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SYNE1 spectrin repeat containing nuclear envelope protein 1 [ Homo sapiens (human) ]

Gene ID: 23345, updated on 3-Nov-2024

Summary

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Official Symbol
SYNE1provided by HGNC
Official Full Name
spectrin repeat containing nuclear envelope protein 1provided by HGNC
Primary source
HGNC:HGNC:17089
See related
Ensembl:ENSG00000131018 MIM:608441; AllianceGenome:HGNC:17089
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
8B; AMC3; AMCM; CPG2; ARCA1; EDMD4; KASH1; MYNE1; Nesp1; SCAR8; C6orf98; dJ45H2.2
Summary
This gene encodes a spectrin repeat containing protein expressed in skeletal and smooth muscle, and peripheral blood lymphocytes, that localizes to the nuclear membrane. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia 8, also referred to as autosomal recessive cerebellar ataxia type 1 or recessive ataxia of Beauce. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in ovary (RPKM 11.9), bone marrow (RPKM 8.2) and 24 other tissues See more
Orthologs
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Genomic context

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See SYNE1 in Genome Data Viewer
Location:
6q25.2
Exon count:
153
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (152121687..152637362, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (153322984..153838674, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (152442822..152958497, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901435 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:151969745-151970311 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25284 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:152017738-152017865 Neighboring gene uncharacterized LOC107986529 Neighboring gene estrogen receptor 1 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr6:152154278-152154778 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:152221566-152222765 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:152375213-152376412 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:152414054-152414235 Neighboring gene Sharpr-MPRA regulatory regions 5277 and 6602 Neighboring gene OCT4 hESC enhancer GRCh37_chr6:152419735-152420236 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25285 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17689 Neighboring gene MPRA-validated peak6220 silencer Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:152542272-152543471 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25286 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25287 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25288 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr6:152630775-152631974 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17690 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:152706655-152707854 Neighboring gene uncharacterized LOC124901437 Neighboring gene SYNE1 antisense RNA 1 Neighboring gene RNA, 5S ribosomal pseudogene 223 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:152811684-152812883 Neighboring gene NANOG hESC enhancer GRCh37_chr6:152893840-152894402 Neighboring gene Nanog homeobox pseudogene 11 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25289 Neighboring gene uncharacterized LOC105378061 Neighboring gene heat shock protein family D (Hsp60) member 1 pseudogene 16 Neighboring gene MYC target 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Mechanostimulation Promotes Nuclear and Epigenetic Changes in Oligodendrocytes. Hernandez M, et al. J Neurosci, 2016 Jan 20. PMID 26791211, Free PMC Article
  2. Autosomal Recessive Cerebellar Ataxia Type 1: Phenotypic and Genetic Correlation in a Cohort of Chinese Patients with SYNE1 Variants. Duan X, et al. Cerebellum, 2021 Feb. PMID 32889669
  3. Association of SYNE1 locus with bipolar disorder in Chinese population. Li W, et al. Hereditas, 2019. PMID 31236099, Free PMC Article
  4. Cognitive and Psychiatric Evaluation in SYNE1 Ataxia. Gama MTD, et al. Cerebellum, 2019 Aug. PMID 31049853
  5. Genetic variants in the bipolar disorder risk locus SYNE1 that affect CPG2 expression and protein function. Rathje M, et al. Mol Psychiatry, 2021 Feb. PMID 30610203, Free PMC Article

See all (155) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Exome sequencing implicates ancestry-related Mendelian variation at SYNE1 in childhood-onset essential hypertension.
    Title: Exome sequencing implicates ancestry-related Mendelian variation at SYNE1 in childhood-onset essential hypertension.
  2. SYNE1 Mutation Is Associated with Increased Tumor Mutation Burden and Immune Cell Infiltration in Ovarian Cancer.
    Title: SYNE1 Mutation Is Associated with Increased Tumor Mutation Burden and Immune Cell Infiltration in Ovarian Cancer.
  3. Structures of FHOD1-Nesprin1/2 complexes reveal alternate binding modes for the FH3 domain of formins.
    Title: Structures of FHOD1-Nesprin1/2 complexes reveal alternate binding modes for the FH3 domain of formins.
  4. Autosomal Recessive Cerebellar Ataxia Type 1: Phenotypic and Genetic Correlation in a Cohort of Chinese Patients with SYNE1 Variants.
    Title: Autosomal Recessive Cerebellar Ataxia Type 1: Phenotypic and Genetic Correlation in a Cohort of Chinese Patients with SYNE1 Variants.
  5. Genetic variants in the bipolar disorder risk locus SYNE1 that affect CPG2 expression and protein function.
    Title: Genetic variants in the bipolar disorder risk locus SYNE1 that affect CPG2 expression and protein function.
  6. SYNE1-QK1 SNPs, G x G and G x E interactions on the risk of hyperlipidaemia.
    Title: SYNE1-QK1 SNPs, G × G and G × E interactions on the risk of hyperlipidaemia.
  7. Nesprin-1-alpha2 associates with kinesin at myotube outer nuclear membranes, but is restricted to neuromuscular junction nuclei in adult muscle.
    Title: Nesprin-1-alpha2 associates with kinesin at myotube outer nuclear membranes, but is restricted to neuromuscular junction nuclei in adult muscle.
  8. Three novel mutations are described in SYNE1-ataxia patients.
    Title: SYNE1-ataxia: Novel genotypic and phenotypic findings.
  9. SYNE1 gene mutations were identified as a cause of late-onset pure cerebellar syndrome
    Title: Cognitive and Psychiatric Evaluation in SYNE1 Ataxia.
  10. Our explorative analyses of the biological impact of rs9371601 suggested that this SNP was significantly associated with the methylation of a CpG site (cg01844274, p = 5.0510(- 6)) within SYNE1 in human dorsal lateral prefrontal cortex (DLPFC) tissues. CONCLUSIONS: Our data confirms the association between rs9371601 and BPD
    Title: Association of SYNE1 locus with bipolar disorder in Chinese population.
Submit: New GeneRIF Correction See all GeneRIFs (59)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder.
EBI GWAS Catalog
Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness.
EBI GWAS Catalog
Genome-wide association of bipolar disorder suggests an enrichment of replicable associations in regions near genes.
EBI GWAS Catalog
Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.
EBI GWAS Catalog
Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.
EBI GWAS Catalog
Meta-analysis of genome-wide association data of bipolar disorder and major depressive disorder.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ30878, FLJ41140, KIAA0796, KIAA1262, KIAA1756, DKFZp781J13156

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA binding HDA PubMed 
enables actin binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables actin filament binding ISS
Inferred from Sequence or Structural Similarity
more info
  
enables cytoskeleton-nuclear membrane anchor activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables enzyme binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables lamin binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein homodimerization activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables signaling receptor binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in Golgi organization IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in cardiac muscle cell differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in muscle cell differentiation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of mesenchymal cell apoptotic process IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of mini excitatory postsynaptic potential IEA
Inferred from Electronic Annotation
more info
  
involved_in nuclear matrix anchoring at nuclear membrane IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in nucleus organization NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in positive regulation of mesenchymal cell proliferation IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of receptor-mediated endocytosis IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of dendrite morphogenesis IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of nucleus organization IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of postsynaptic neurotransmitter receptor internalization IEA
Inferred from Electronic Annotation
more info
  
involved_in response to light stimulus IEA
Inferred from Electronic Annotation
more info
  
involved_in spermatogenesis IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in P-body IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in dendritic spine head IEA
Inferred from Electronic Annotation
more info
  
located_in glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
  
part_of meiotic nuclear membrane microtubule tethering complex IDA
Inferred from Direct Assay
more info
 PubMed 
located_in membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in midbody IEA
Inferred from Electronic Annotation
more info
  
located_in nuclear envelope IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nuclear membrane IDA
Inferred from Direct Assay
more info
  
located_in nuclear outer membrane IEA
Inferred from Electronic Annotation
more info
  
located_in nucleolus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in nucleus HDA PubMed 
located_in perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in postsynaptic actin cytoskeleton IEA
Inferred from Electronic Annotation
more info
  
located_in postsynaptic endocytic zone IEA
Inferred from Electronic Annotation
more info
  
located_in postsynaptic membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in sarcomere IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
nesprin-1
Names
CPG2 full length
KASH domain-containing protein 1
enaptin
myocyte nuclear envelope protein 1
nesprin 1
spectrin repeat containing, nuclear envelope 1
synaptic nuclear envelope protein 1
synaptic nuclei expressed gene 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012855.2 RefSeqGene

    Range
    5038..520716
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_427

mRNA and Protein(s)

  1. NM_001347701.2 → NP_001334630.1  nesprin-1 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains a distinct 5' UTR and lacks a significant portion of the 5' coding region, compared to variant 1. The resulting isoform (3) has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AK304825, AL078582, AL138832, AL450401
    Consensus CDS
    CCDS94022.1
    UniProtKB/TrEMBL
    B4E3R1, B7Z9Y6
    Related
    ENSP00000516090.1, ENST00000536990.5

  2. NM_001347702.2 → NP_001334631.1  nesprin-1 isoform 4 (nesprin-1 alpha 2)

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) contains a distinct exon in the 5' UTR and 5' coding region and lacks a significant portion of the 5' coding region, compared to variant 1. The resulting isoform (2, also known as nesprin-1 alpha 2) has a shorter and distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AL078582, AL138832, AY184203, BX501371
    Consensus CDS
    CCDS87458.1
    UniProtKB/TrEMBL
    F8WAI0, Q5JV20
    Related
    ENSP00000346701.4, ENST00000354674.5

  3. NM_033071.5 → NP_149062.2  nesprin-1 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and has multiple differences in the coding region but maintains the reading frame, compared to variant 1. This variant encodes isoform 2, which is shorter than isoform 1.
    Source sequence(s)
    AL049548, AL078582, AL136079, AL138832, AL357081, AL450401, AL589963, AL591507
    UniProtKB/TrEMBL
    A0A0C4DG40
    Related
    ENSP00000396024.1, ENST00000423061.6
    Conserved Domains (7) summary
    COG1196
    Location:1423 → 2152
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    cd00176
    Location:7929 → 8139
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    TIGR02168
    Location:4892 → 5727
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam10541
    Location:8717 → 8748
    KASH; Nuclear envelope localization domain
    cd21241
    Location:24 → 143
    CH_SYNE1_rpt1; first calponin homology (CH) domain found in synaptic nuclear envelope protein 1 and similar proteins
    cd21243
    Location:182 → 290
    CH_SYNE1_rpt2; second calponin homology (CH) domain found in synaptic nuclear envelope protein 1 (SYNE-1) and similar proteins
    cl02488
    Location:7090 → 7278
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

  4. NM_182961.4 → NP_892006.3  nesprin-1 isoform 1 (nesprin-1 giant or enaptin)

    See identical proteins and their annotated locations for NP_892006.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest protein (isoform 1, also know as nesprin-1 giant or enaptin).
    Source sequence(s)
    AF495910, AL078582, AL136079, AL138832, AL357081, AL589963
    Consensus CDS
    CCDS5236.2
    UniProtKB/Swiss-Prot
    B3W695, E7EQI5, H0Y4C0, O94890, Q3ZCV0, Q5JV19, Q5JV22, Q8N9P7, Q8NF91, Q8TCP1, Q8WWW6, Q8WWW7, Q8WXF6, Q96N17, Q9C0A7, Q9H525, Q9H526, Q9NS36, Q9NU50, Q9UJ06, Q9UJ07, Q9ULF8
    UniProtKB/TrEMBL
    A0A0C4DG40
    Related
    ENSP00000356224.5, ENST00000367255.10
    Conserved Domains (7) summary
    COG1511
    Location:6417 → 6939
    YhgE; Uncharacterized membrane protein YhgE, phage infection protein (PIP) family [Function unknown]
    cd00014
    Location:28 → 134
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
    cd00176
    Location:8000 → 8210
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    TIGR02168
    Location:2333 → 3116
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam00307
    Location:180 → 278
    CH; Calponin homology (CH) domain
    pfam10541
    Location:8765 → 8796
    KASH; Nuclear envelope localization domain
    cl02488
    Location:7161 → 7349
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    152121687..152637362 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047418508.1 → XP_047274464.1  nesprin-1 isoform X25

  2. XM_017010610.2 → XP_016866099.1  nesprin-1 isoform X5

    UniProtKB/TrEMBL
    A0A0C4DG40
    Conserved Domains (6) summary
    cd00014
    Location:28 → 134
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
    cd00176
    Location:8005 → 8215
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    TIGR02168
    Location:5937 → 6723
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam00307
    Location:180 → 278
    CH; Calponin homology (CH) domain
    pfam10541
    Location:8807 → 8838
    KASH; Nuclear envelope localization domain
    cl02488
    Location:7166 → 7354
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

  3. XM_017010609.2 → XP_016866098.1  nesprin-1 isoform X1

    UniProtKB/TrEMBL
    A0A0C4DG40
    Conserved Domains (6) summary
    cd00014
    Location:28 → 141
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
    cd00176
    Location:8012 → 8222
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    TIGR02168
    Location:5944 → 6730
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam00307
    Location:187 → 285
    CH; Calponin homology (CH) domain
    pfam10541
    Location:8814 → 8845
    KASH; Nuclear envelope localization domain
    cl02488
    Location:7173 → 7361
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

  4. XM_047418504.1 → XP_047274460.1  nesprin-1 isoform X12

  5. XM_047418501.1 → XP_047274457.1  nesprin-1 isoform X5

  6. XM_047418503.1 → XP_047274459.1  nesprin-1 isoform X9

  7. XM_017010608.2 → XP_016866097.1  nesprin-1 isoform X1

    UniProtKB/TrEMBL
    A0A0C4DG40
    Conserved Domains (6) summary
    cd00014
    Location:28 → 141
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
    cd00176
    Location:8012 → 8222
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    TIGR02168
    Location:5944 → 6730
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam00307
    Location:187 → 285
    CH; Calponin homology (CH) domain
    pfam10541
    Location:8814 → 8845
    KASH; Nuclear envelope localization domain
    cl02488
    Location:7173 → 7361
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

  8. XM_047418510.1 → XP_047274466.1  nesprin-1 isoform X27

  9. XM_006715414.2 → XP_006715477.1  nesprin-1 isoform X12

    UniProtKB/TrEMBL
    A0A0C4DG40
    Conserved Domains (6) summary
    cd00014
    Location:28 → 134
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
    cd00176
    Location:7988 → 8198
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    TIGR02168
    Location:2316 → 3099
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam00307
    Location:180 → 278
    CH; Calponin homology (CH) domain
    pfam10541
    Location:8790 → 8821
    KASH; Nuclear envelope localization domain
    cl02488
    Location:7149 → 7337
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

  10. XM_047418507.1 → XP_047274463.1  nesprin-1 isoform X25

  11. XM_006715409.2 → XP_006715472.1  nesprin-1 isoform X5

    UniProtKB/TrEMBL
    A0A0C4DG40
    Conserved Domains (6) summary
    cd00014
    Location:28 → 134
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
    cd00176
    Location:8005 → 8215
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    TIGR02168
    Location:5937 → 6723
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam00307
    Location:180 → 278
    CH; Calponin homology (CH) domain
    pfam10541
    Location:8807 → 8838
    KASH; Nuclear envelope localization domain
    cl02488
    Location:7166 → 7354
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

  12. XM_006715411.2 → XP_006715474.1  nesprin-1 isoform X9

    UniProtKB/TrEMBL
    A0A0C4DG40
    Conserved Domains (6) summary
    cd00014
    Location:28 → 141
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
    cd00176
    Location:7995 → 8205
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    TIGR02168
    Location:5927 → 6713
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam00307
    Location:187 → 285
    CH; Calponin homology (CH) domain
    pfam10541
    Location:8797 → 8828
    KASH; Nuclear envelope localization domain
    cl02488
    Location:7156 → 7344
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

  13. XM_011535643.2 → XP_011533945.1  nesprin-1 isoform X24

    UniProtKB/TrEMBL
    A0A0C4DG40
    Conserved Domains (6) summary
    cd00014
    Location:28 → 141
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
    cd00176
    Location:7957 → 8167
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    TIGR02168
    Location:5889 → 6675
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam00307
    Location:187 → 285
    CH; Calponin homology (CH) domain
    pfam10541
    Location:8759 → 8790
    KASH; Nuclear envelope localization domain
    cl02488
    Location:7118 → 7306
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

  14. XM_006715422.2 → XP_006715485.1  nesprin-1 isoform X23

    UniProtKB/TrEMBL
    A0A0C4DG40
    Conserved Domains (6) summary
    cd00014
    Location:28 → 141
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
    cd00176
    Location:7959 → 8169
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    TIGR02168
    Location:5891 → 6677
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam00307
    Location:187 → 285
    CH; Calponin homology (CH) domain
    pfam10541
    Location:8761 → 8792
    KASH; Nuclear envelope localization domain
    cl02488
    Location:7120 → 7308
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

  15. XM_006715421.3 → XP_006715484.1  nesprin-1 isoform X22

    UniProtKB/TrEMBL
    A0A0C4DG40
    Conserved Domains (6) summary
    cd00014
    Location:28 → 141
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
    cd00176
    Location:7960 → 8170
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    TIGR02168
    Location:5892 → 6678
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam00307
    Location:187 → 285
    CH; Calponin homology (CH) domain
    pfam10541
    Location:8762 → 8793
    KASH; Nuclear envelope localization domain
    cl02488
    Location:7121 → 7309
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

  16. XM_017010615.2 → XP_016866104.1  nesprin-1 isoform X30

    UniProtKB/TrEMBL
    A0A0C4DG40

  17. XM_017010614.2 → XP_016866103.1  nesprin-1 isoform X21

    UniProtKB/TrEMBL
    A0A0C4DG40

  18. XM_047418511.1 → XP_047274467.1  nesprin-1 isoform X28

  19. XM_047418509.1 → XP_047274465.1  nesprin-1 isoform X26

  20. XM_006715420.3 → XP_006715483.1  nesprin-1 isoform X20

    UniProtKB/TrEMBL
    A0A0C4DG40
    Conserved Domains (6) summary
    cd00014
    Location:28 → 141
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
    cd00176
    Location:7961 → 8171
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    TIGR02168
    Location:2340 → 3123
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam00307
    Location:187 → 285
    CH; Calponin homology (CH) domain
    pfam10541
    Location:8763 → 8794
    KASH; Nuclear envelope localization domain
    cl02488
    Location:7122 → 7310
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

  21. XM_047418512.1 → XP_047274468.1  nesprin-1 isoform X36

  22. XM_047418506.1 → XP_047274462.1  nesprin-1 isoform X19

  23. XM_006715417.3 → XP_006715480.1  nesprin-1 isoform X18

    UniProtKB/TrEMBL
    A0A0C4DG40
    Conserved Domains (7) summary
    COG1511
    Location:6382 → 6904
    YhgE; Uncharacterized membrane protein YhgE, phage infection protein (PIP) family [Function unknown]
    cd00014
    Location:28 → 141
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
    cd00176
    Location:7965 → 8175
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    TIGR02168
    Location:2340 → 3123
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam00307
    Location:187 → 285
    CH; Calponin homology (CH) domain
    pfam10541
    Location:8767 → 8798
    KASH; Nuclear envelope localization domain
    cl02488
    Location:7126 → 7314
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

  24. XM_017010618.2 → XP_016866107.1  nesprin-1 isoform X35

    UniProtKB/TrEMBL
    A0A0C4DG40

  25. XM_006715416.3 → XP_006715479.1  nesprin-1 isoform X17

    UniProtKB/TrEMBL
    A0A0C4DG40
    Conserved Domains (7) summary
    COG1511
    Location:6424 → 6946
    YhgE; Uncharacterized membrane protein YhgE, phage infection protein (PIP) family [Function unknown]
    cd00014
    Location:28 → 141
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
    cd00176
    Location:8007 → 8217
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    TIGR02168
    Location:2340 → 3123
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam00307
    Location:187 → 285
    CH; Calponin homology (CH) domain
    pfam10541
    Location:8772 → 8803
    KASH; Nuclear envelope localization domain
    cl02488
    Location:7168 → 7356
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

  26. XM_047418505.1 → XP_047274461.1  nesprin-1 isoform X13

  27. XM_006715412.3 → XP_006715475.1  nesprin-1 isoform X10

    UniProtKB/TrEMBL
    A0A0C4DG40
    Conserved Domains (6) summary
    COG1196
    Location:5941 → 6721
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    cd00014
    Location:28 → 141
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
    cd00176
    Location:8007 → 8217
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    pfam00307
    Location:187 → 285
    CH; Calponin homology (CH) domain
    pfam10541
    Location:8795 → 8826
    KASH; Nuclear envelope localization domain
    cl02488
    Location:7168 → 7356
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

  28. XM_011535642.3 → XP_011533944.1  nesprin-1 isoform X4

    UniProtKB/TrEMBL
    A0A0C4DG40
    Conserved Domains (6) summary
    COG1196
    Location:5941 → 6721
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    cd00014
    Location:28 → 141
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
    cd00176
    Location:8007 → 8217
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    pfam00307
    Location:187 → 285
    CH; Calponin homology (CH) domain
    pfam10541
    Location:8809 → 8840
    KASH; Nuclear envelope localization domain
    cl02488
    Location:7168 → 7356
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

  29. XM_006715408.3 → XP_006715471.1  nesprin-1 isoform X3

    UniProtKB/TrEMBL
    A0A0C4DG40
    Conserved Domains (6) summary
    cd00014
    Location:28 → 141
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
    cd00176
    Location:8008 → 8218
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    TIGR02168
    Location:5946 → 6726
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam00307
    Location:187 → 285
    CH; Calponin homology (CH) domain
    pfam10541
    Location:8810 → 8841
    KASH; Nuclear envelope localization domain
    cl02488
    Location:7169 → 7357
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

  30. XM_017010617.2 → XP_016866106.1  nesprin-1 isoform X34

    UniProtKB/TrEMBL
    A0A0C4DG40

  31. XM_017010613.2 → XP_016866102.1  nesprin-1 isoform X16

    UniProtKB/TrEMBL
    A0A0C4DG40

  32. XM_047418502.1 → XP_047274458.1  nesprin-1 isoform X8

  33. XM_011535641.3 → XP_011533943.1  nesprin-1 isoform X2

    UniProtKB/TrEMBL
    A0A0C4DG40
    Conserved Domains (6) summary
    cd00014
    Location:28 → 141
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
    cd00176
    Location:8011 → 8221
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    TIGR02168
    Location:5944 → 6729
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam00307
    Location:187 → 285
    CH; Calponin homology (CH) domain
    pfam10541
    Location:8813 → 8844
    KASH; Nuclear envelope localization domain
    cl02488
    Location:7172 → 7360
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

  34. XM_006715425.3 → XP_006715488.1  nesprin-1 isoform X33

    UniProtKB/TrEMBL
    A0A0C4DG40
    Conserved Domains (5) summary
    cd00014
    Location:28 → 141
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
    cd00176
    Location:8012 → 8222
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    TIGR02168
    Location:2340 → 3123
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam00307
    Location:187 → 285
    CH; Calponin homology (CH) domain
    cl02488
    Location:7469 → 7680
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

  35. XM_006715415.3 → XP_006715478.1  nesprin-1 isoform X15

    UniProtKB/TrEMBL
    A0A0C4DG40
    Conserved Domains (6) summary
    cd00014
    Location:28 → 141
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
    cd00176
    Location:8012 → 8222
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    TIGR02168
    Location:2340 → 3123
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam00307
    Location:187 → 285
    CH; Calponin homology (CH) domain
    pfam10541
    Location:8777 → 8808
    KASH; Nuclear envelope localization domain
    cl02488
    Location:7173 → 7361
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

  36. XM_017010616.2 → XP_016866105.1  nesprin-1 isoform X32

    UniProtKB/TrEMBL
    A0A0C4DG40

  37. XM_006715413.3 → XP_006715476.1  nesprin-1 isoform X11

    UniProtKB/TrEMBL
    A0A0C4DG40
    Conserved Domains (6) summary
    cd00014
    Location:28 → 141
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
    cd00176
    Location:8012 → 8222
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    TIGR02168
    Location:5944 → 6730
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam00307
    Location:187 → 285
    CH; Calponin homology (CH) domain
    pfam10541
    Location:8791 → 8822
    KASH; Nuclear envelope localization domain
    cl02488
    Location:7173 → 7361
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

  38. XM_006715424.3 → XP_006715487.1  nesprin-1 isoform X31

    UniProtKB/TrEMBL
    A0A0C4DG40
    Conserved Domains (5) summary
    cd00014
    Location:28 → 141
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
    cd00176
    Location:8012 → 8222
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    TIGR02168
    Location:2340 → 3123
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam00307
    Location:187 → 285
    CH; Calponin homology (CH) domain
    cl02488
    Location:7469 → 7680
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

  39. XM_006715410.3 → XP_006715473.1  nesprin-1 isoform X7

    UniProtKB/TrEMBL
    A0A0C4DG40
    Conserved Domains (6) summary
    cd00014
    Location:28 → 141
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
    cd00176
    Location:8012 → 8222
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    TIGR02168
    Location:5944 → 6730
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam00307
    Location:187 → 285
    CH; Calponin homology (CH) domain
    pfam10541
    Location:8800 → 8831
    KASH; Nuclear envelope localization domain
    cl02488
    Location:7173 → 7361
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

  40. XM_006715423.3 → XP_006715486.1  nesprin-1 isoform X29

    UniProtKB/TrEMBL
    A0A0C4DG40
    Conserved Domains (5) summary
    cd00014
    Location:28 → 141
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
    cd00176
    Location:8012 → 8222
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    TIGR02168
    Location:2340 → 3123
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam00307
    Location:187 → 285
    CH; Calponin homology (CH) domain
    cl02488
    Location:7173 → 7361
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

  41. XM_006715407.2 → XP_006715470.1  nesprin-1 isoform X1

    UniProtKB/TrEMBL
    A0A0C4DG40
    Conserved Domains (6) summary
    cd00014
    Location:28 → 141
    CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...
    cd00176
    Location:8012 → 8222
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    TIGR02168
    Location:5944 → 6730
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam00307
    Location:187 → 285
    CH; Calponin homology (CH) domain
    pfam10541
    Location:8814 → 8845
    KASH; Nuclear envelope localization domain
    cl02488
    Location:7173 → 7361
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

  42. XM_017010612.2 → XP_016866101.1  nesprin-1 isoform X14

    UniProtKB/TrEMBL
    A0A0C4DG40

  43. XM_017010611.3 → XP_016866100.1  nesprin-1 isoform X6

    UniProtKB/TrEMBL
    A0A0C4DG40

  44. XM_017010619.2 → XP_016866108.1  nesprin-1 isoform X37

    UniProtKB/TrEMBL
    A0A0C4DG40
    Conserved Domains (4) summary
    cd00176
    Location:7437 → 7647
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    TIGR02168
    Location:1765 → 2548
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam10541
    Location:8239 → 8270
    KASH; Nuclear envelope localization domain
    cl02488
    Location:1948 → 2164
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

  45. XM_011535644.2 → XP_011533946.1  nesprin-1 isoform X37

    UniProtKB/TrEMBL
    A0A0C4DG40
    Conserved Domains (4) summary
    cd00176
    Location:7437 → 7647
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    TIGR02168
    Location:1765 → 2548
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam10541
    Location:8239 → 8270
    KASH; Nuclear envelope localization domain
    cl02488
    Location:1948 → 2164
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

  46. XM_011535645.3 → XP_011533947.1  nesprin-1 isoform X38

    UniProtKB/TrEMBL
    A0A0C4DG40
    Conserved Domains (4) summary
    cd00176
    Location:7268 → 7478
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    TIGR02168
    Location:1596 → 2379
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam10541
    Location:8070 → 8101
    KASH; Nuclear envelope localization domain
    cl02488
    Location:1779 → 1995
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

  47. XM_047418513.1 → XP_047274469.1  nesprin-1 isoform X39

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    153322984..153838674 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054354908.1 → XP_054210883.1  nesprin-1 isoform X25

  2. XM_054354886.1 → XP_054210861.1  nesprin-1 isoform X5

  3. XM_054354880.1 → XP_054210855.1  nesprin-1 isoform X1

  4. XM_054354894.1 → XP_054210869.1  nesprin-1 isoform X12

  5. XM_054354884.1 → XP_054210859.1  nesprin-1 isoform X5

  6. XM_054354891.1 → XP_054210866.1  nesprin-1 isoform X9

  7. XM_054354879.1 → XP_054210854.1  nesprin-1 isoform X1

  8. XM_054354910.1 → XP_054210885.1  nesprin-1 isoform X27

  9. XM_054354907.1 → XP_054210882.1  nesprin-1 isoform X25

  10. XM_054354885.1 → XP_054210860.1  nesprin-1 isoform X5

  11. XM_054354890.1 → XP_054210865.1  nesprin-1 isoform X9

  12. XM_054354906.1 → XP_054210881.1  nesprin-1 isoform X24

  13. XM_054354905.1 → XP_054210880.1  nesprin-1 isoform X23

  14. XM_054354904.1 → XP_054210879.1  nesprin-1 isoform X22

  15. XM_054354913.1 → XP_054210888.1  nesprin-1 isoform X30

  16. XM_054354903.1 → XP_054210878.1  nesprin-1 isoform X21

  17. XM_054354911.1 → XP_054210886.1  nesprin-1 isoform X28

  18. XM_054354909.1 → XP_054210884.1  nesprin-1 isoform X26

  19. XM_054354902.1 → XP_054210877.1  nesprin-1 isoform X20

  20. XM_054354919.1 → XP_054210894.1  nesprin-1 isoform X36

  21. XM_054354901.1 → XP_054210876.1  nesprin-1 isoform X19

  22. XM_054354900.1 → XP_054210875.1  nesprin-1 isoform X18

  23. XM_054354918.1 → XP_054210893.1  nesprin-1 isoform X35

  24. XM_054354899.1 → XP_054210874.1  nesprin-1 isoform X17

  25. XM_054354895.1 → XP_054210870.1  nesprin-1 isoform X13

  26. XM_054354892.1 → XP_054210867.1  nesprin-1 isoform X10

  27. XM_054354883.1 → XP_054210858.1  nesprin-1 isoform X4

  28. XM_054354882.1 → XP_054210857.1  nesprin-1 isoform X3

  29. XM_054354917.1 → XP_054210892.1  nesprin-1 isoform X34

  30. XM_054354898.1 → XP_054210873.1  nesprin-1 isoform X16

  31. XM_054354889.1 → XP_054210864.1  nesprin-1 isoform X8

  32. XM_054354881.1 → XP_054210856.1  nesprin-1 isoform X2

  33. XM_054354916.1 → XP_054210891.1  nesprin-1 isoform X33

  34. XM_054354897.1 → XP_054210872.1  nesprin-1 isoform X15

  35. XM_054354915.1 → XP_054210890.1  nesprin-1 isoform X32

  36. XM_054354893.1 → XP_054210868.1  nesprin-1 isoform X11

  37. XM_054354914.1 → XP_054210889.1  nesprin-1 isoform X31

  38. XM_054354888.1 → XP_054210863.1  nesprin-1 isoform X7

  39. XM_054354912.1 → XP_054210887.1  nesprin-1 isoform X29

  40. XM_054354878.1 → XP_054210853.1  nesprin-1 isoform X1

  41. XM_054354887.1 → XP_054210862.1  nesprin-1 isoform X6

  42. XM_054354896.1 → XP_054210871.1  nesprin-1 isoform X14

  43. XM_054354920.1 → XP_054210895.1  nesprin-1 isoform X37

  44. XM_054354921.1 → XP_054210896.1  nesprin-1 isoform X37

  45. XM_054354922.1 → XP_054210897.1  nesprin-1 isoform X38

  46. XM_054354923.1 → XP_054210898.1  nesprin-1 isoform X39

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001099267.1: Suppressed sequence

    Description
    NM_001099267.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.

  2. NM_001134379.1: Suppressed sequence

    Description
    NM_001134379.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.

  3. NM_015293.2: Suppressed sequence

    Description
    NM_015293.2: This RefSeq was permanently suppressed because currently there is support for the transcript but not for the protein.

  4. NM_133650.2: Suppressed sequence

    Description
    NM_133650.2: This RefSeq was permanently suppressed because currently there is support for the transcript but not for the protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8NF91.4 GenPept UniProtKB/Swiss-Prot:Q8NF91

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