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

Gene ID: 23345, updated on 8-Jul-2018
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; Vega:OTTHUMG00000015841
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; 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
See SYNE1 in Genome Data Viewer
Location:
6q25.2
Exon count:
154
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 6 NC_000006.12 (152121684..152637399, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (152442819..152958534, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986529 Neighboring gene estrogen receptor 1 Neighboring gene Sharpr-MPRA regulatory regions 5277 and 6602 Neighboring gene SYNE1 antisense RNA 1 Neighboring gene RNA, 5S ribosomal pseudogene 223 Neighboring gene Nanog homeobox pseudogene 11 Neighboring gene uncharacterized LOC105378061 Neighboring gene heat shock protein family D (Hsp60) member 1 pseudogene 16 Neighboring gene MYC target 1

  • Project title: 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder.
NHGRI GWA Catalog
Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness.
NHGRI GWA Catalog
Genome-wide association of bipolar disorder suggests an enrichment of replicable associations in regions near genes.
NHGRI GWA Catalog
Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.
NHGRI GWA Catalog
Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.
NHGRI GWA Catalog
Meta-analysis of genome-wide association data of bipolar disorder and major depressive disorder.
NHGRI GWA Catalog
  • Cell Cycle, organism-specific biosystem (from REACTOME)
    Cell Cycle, organism-specific biosystem
    Cell Cycle
  • Meiosis, organism-specific biosystem (from REACTOME)
    Meiosis, organism-specific biosystemDuring meiosis the replicated chromosomes of a single diploid cell are segregated into 4 haploid daughter cells by two successive divisions, meiosis I and meiosis II. In meiosis I, the distinguishing...
  • Meiotic synapsis, organism-specific biosystem (from REACTOME)
    Meiotic synapsis, organism-specific biosystemMeiotic synapsis is the stable physical pairing of homologous chromosomes that begins in leptonema of prophase I and lasts until anaphase of prophase I. First, short segments of axial elements form a...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding HDA PubMed 
actin binding IDA
Inferred from Direct Assay
more info
PubMed 
actin filament binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enzyme binding IPI
Inferred from Physical Interaction
more info
PubMed 
lamin binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
Golgi organization IDA
Inferred from Direct Assay
more info
PubMed 
cytoskeletal anchoring at nuclear membrane IDA
Inferred from Direct Assay
more info
PubMed 
muscle cell differentiation IDA
Inferred from Direct Assay
more info
PubMed 
nuclear matrix anchoring at nuclear membrane IDA
Inferred from Direct Assay
more info
PubMed 
nucleus organization NAS
Non-traceable Author Statement
more info
PubMed 
spermatogenesis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
P-body IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IDA
Inferred from Direct Assay
more info
PubMed 
meiotic nuclear membrane microtubule tethering complex IDA
Inferred from Direct Assay
more info
PubMed 
nuclear envelope IDA
Inferred from Direct Assay
more info
PubMed 
nuclear membrane IDA
Inferred from Direct Assay
more info
 
nuclear outer membrane IEA
Inferred from Electronic Annotation
more info
 
nucleolus IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus HDA PubMed 
postsynaptic membrane IDA
Inferred from Direct Assay
more info
PubMed 
sarcomere IDA
Inferred from Direct Assay
more info
PubMed 
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

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_012855.1 RefSeqGene

    Range
    5001..520716
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001347701.1NP_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, AL450401, CD370334
    UniProtKB/TrEMBL
    B4E3R1, B7Z9Y6
  2. NM_001347702.1NP_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, CD370334
    Consensus CDS
    CCDS87458.1
    UniProtKB/Swiss-Prot
    Q8NF91
    UniProtKB/TrEMBL
    F8WAI0
    Related
    ENSP00000346701.4, ENST00000354674.4
  3. NM_033071.3NP_149062.1  nesprin-1 isoform 2

    See identical proteins and their annotated locations for NP_149062.1

    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)
    AF535142, AL078582
    Consensus CDS
    CCDS5235.1
    UniProtKB/Swiss-Prot
    Q8NF91
    UniProtKB/TrEMBL
    A0A0C4DG40
    Related
    ENSP00000396024.1, OTTHUMP00000017440, ENST00000423061.5, OTTHUMT00000042732
    Conserved Domains (6) summary
    COG1196
    Location:58636643
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    cd00014
    Location:28141
    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:79298139
    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:187285
    CH; Calponin homology (CH) domain
    pfam10541
    Location:87178748
    KASH; Nuclear envelope localization domain
    cl02488
    Location:70907278
    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_182961.3NP_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
    Q8NF91
    Related
    ENSP00000356224.5, OTTHUMP00000205471, ENST00000367255.9, OTTHUMT00000334755
    Conserved Domains (7) summary
    COG1511
    Location:64176939
    YhgE; Uncharacterized membrane protein YhgE, phage infection protein (PIP) family [Function unknown]
    cd00014
    Location:28134
    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:80008210
    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:23333116
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam00307
    Location:180278
    CH; Calponin homology (CH) domain
    pfam10541
    Location:87658796
    KASH; Nuclear envelope localization domain
    cl02488
    Location:71617349
    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: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p12 Primary Assembly

    Range
    152121684..152637399 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017010608.1XP_016866097.1  nesprin-1 isoform X1

    Conserved Domains (6) summary
    cd00014
    Location:28141
    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:80128222
    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:59446730
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam00307
    Location:187285
    CH; Calponin homology (CH) domain
    pfam10541
    Location:88148845
    KASH; Nuclear envelope localization domain
    cl02488
    Location:71737361
    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; ...
  2. XM_017010610.1XP_016866099.1  nesprin-1 isoform X5

    Conserved Domains (6) summary
    cd00014
    Location:28134
    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:80058215
    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:59376723
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam00307
    Location:180278
    CH; Calponin homology (CH) domain
    pfam10541
    Location:88078838
    KASH; Nuclear envelope localization domain
    cl02488
    Location:71667354
    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_017010609.1XP_016866098.1  nesprin-1 isoform X1

    Conserved Domains (6) summary
    cd00014
    Location:28141
    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:80128222
    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:59446730
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam00307
    Location:187285
    CH; Calponin homology (CH) domain
    pfam10541
    Location:88148845
    KASH; Nuclear envelope localization domain
    cl02488
    Location:71737361
    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_006715421.2XP_006715484.1  nesprin-1 isoform X19

    Conserved Domains (6) summary
    cd00014
    Location:28141
    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:79608170
    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:58926678
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam00307
    Location:187285
    CH; Calponin homology (CH) domain
    pfam10541
    Location:87628793
    KASH; Nuclear envelope localization domain
    cl02488
    Location:71217309
    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; ...
  5. XM_017010615.1XP_016866104.1  nesprin-1 isoform X23

  6. XM_017010614.1XP_016866103.1  nesprin-1 isoform X18

  7. XM_006715420.2XP_006715483.1  nesprin-1 isoform X17

    Conserved Domains (6) summary
    cd00014
    Location:28141
    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:79618171
    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:23403123
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam00307
    Location:187285
    CH; Calponin homology (CH) domain
    pfam10541
    Location:87638794
    KASH; Nuclear envelope localization domain
    cl02488
    Location:71227310
    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_006715417.2XP_006715480.1  nesprin-1 isoform X16

    Conserved Domains (7) summary
    COG1511
    Location:63826904
    YhgE; Uncharacterized membrane protein YhgE, phage infection protein (PIP) family [Function unknown]
    cd00014
    Location:28141
    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:79658175
    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:23403123
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam00307
    Location:187285
    CH; Calponin homology (CH) domain
    pfam10541
    Location:87678798
    KASH; Nuclear envelope localization domain
    cl02488
    Location:71267314
    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; ...
  9. XM_017010618.1XP_016866107.1  nesprin-1 isoform X28

  10. XM_006715416.2XP_006715479.1  nesprin-1 isoform X15

    Conserved Domains (7) summary
    COG1511
    Location:64246946
    YhgE; Uncharacterized membrane protein YhgE, phage infection protein (PIP) family [Function unknown]
    cd00014
    Location:28141
    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:80078217
    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:23403123
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam00307
    Location:187285
    CH; Calponin homology (CH) domain
    pfam10541
    Location:87728803
    KASH; Nuclear envelope localization domain
    cl02488
    Location:71687356
    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; ...
  11. XM_006715412.2XP_006715475.1  nesprin-1 isoform X8

    Conserved Domains (6) summary
    COG1196
    Location:59416721
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    cd00014
    Location:28141
    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:80078217
    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:187285
    CH; Calponin homology (CH) domain
    pfam10541
    Location:87958826
    KASH; Nuclear envelope localization domain
    cl02488
    Location:71687356
    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_011535642.2XP_011533944.1  nesprin-1 isoform X4

    Conserved Domains (6) summary
    COG1196
    Location:59416721
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    cd00014
    Location:28141
    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:80078217
    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:187285
    CH; Calponin homology (CH) domain
    pfam10541
    Location:88098840
    KASH; Nuclear envelope localization domain
    cl02488
    Location:71687356
    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_006715408.2XP_006715471.1  nesprin-1 isoform X3

    Conserved Domains (6) summary
    cd00014
    Location:28141
    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:80088218
    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:59466726
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam00307
    Location:187285
    CH; Calponin homology (CH) domain
    pfam10541
    Location:88108841
    KASH; Nuclear envelope localization domain
    cl02488
    Location:71697357
    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_017010617.1XP_016866106.1  nesprin-1 isoform X27

  15. XM_017010613.1XP_016866102.1  nesprin-1 isoform X14

  16. XM_011535641.2XP_011533943.1  nesprin-1 isoform X2

    Conserved Domains (6) summary
    cd00014
    Location:28141
    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:80118221
    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:59446729
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam00307
    Location:187285
    CH; Calponin homology (CH) domain
    pfam10541
    Location:88138844
    KASH; Nuclear envelope localization domain
    cl02488
    Location:71727360
    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; ...
  17. XM_006715425.2XP_006715488.1  nesprin-1 isoform X26

    Conserved Domains (5) summary
    cd00014
    Location:28141
    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:80128222
    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:23403123
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam00307
    Location:187285
    CH; Calponin homology (CH) domain
    cl02488
    Location:74697680
    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; ...
  18. XM_006715415.2XP_006715478.1  nesprin-1 isoform X13

    Conserved Domains (6) summary
    cd00014
    Location:28141
    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:80128222
    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:23403123
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam00307
    Location:187285
    CH; Calponin homology (CH) domain
    pfam10541
    Location:87778808
    KASH; Nuclear envelope localization domain
    cl02488
    Location:71737361
    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; ...
  19. XM_017010616.1XP_016866105.1  nesprin-1 isoform X25

  20. XM_006715413.2XP_006715476.1  nesprin-1 isoform X10

    Conserved Domains (6) summary
    cd00014
    Location:28141
    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:80128222
    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:59446730
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam00307
    Location:187285
    CH; Calponin homology (CH) domain
    pfam10541
    Location:87918822
    KASH; Nuclear envelope localization domain
    cl02488
    Location:71737361
    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_006715424.2XP_006715487.1  nesprin-1 isoform X24

    Conserved Domains (5) summary
    cd00014
    Location:28141
    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:80128222
    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:23403123
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam00307
    Location:187285
    CH; Calponin homology (CH) domain
    cl02488
    Location:74697680
    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; ...
  22. XM_006715410.2XP_006715473.1  nesprin-1 isoform X6

    Conserved Domains (6) summary
    cd00014
    Location:28141
    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:80128222
    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:59446730
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam00307
    Location:187285
    CH; Calponin homology (CH) domain
    pfam10541
    Location:88008831
    KASH; Nuclear envelope localization domain
    cl02488
    Location:71737361
    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; ...
  23. XM_006715423.2XP_006715486.1  nesprin-1 isoform X22

    Conserved Domains (5) summary
    cd00014
    Location:28141
    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:80128222
    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:23403123
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam00307
    Location:187285
    CH; Calponin homology (CH) domain
    cl02488
    Location:71737361
    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_006715414.1XP_006715477.1  nesprin-1 isoform X11

    Conserved Domains (6) summary
    cd00014
    Location:28134
    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:79888198
    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:23163099
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam00307
    Location:180278
    CH; Calponin homology (CH) domain
    pfam10541
    Location:87908821
    KASH; Nuclear envelope localization domain
    cl02488
    Location:71497337
    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; ...
  25. XM_006715409.1XP_006715472.1  nesprin-1 isoform X5

    Conserved Domains (6) summary
    cd00014
    Location:28134
    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:80058215
    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:59376723
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam00307
    Location:180278
    CH; Calponin homology (CH) domain
    pfam10541
    Location:88078838
    KASH; Nuclear envelope localization domain
    cl02488
    Location:71667354
    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_006715411.1XP_006715474.1  nesprin-1 isoform X7

    Conserved Domains (6) summary
    cd00014
    Location:28141
    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:79958205
    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:59276713
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam00307
    Location:187285
    CH; Calponin homology (CH) domain
    pfam10541
    Location:87978828
    KASH; Nuclear envelope localization domain
    cl02488
    Location:71567344
    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; ...
  27. XM_011535643.1XP_011533945.1  nesprin-1 isoform X21

    Conserved Domains (6) summary
    cd00014
    Location:28141
    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:79578167
    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:58896675
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam00307
    Location:187285
    CH; Calponin homology (CH) domain
    pfam10541
    Location:87598790
    KASH; Nuclear envelope localization domain
    cl02488
    Location:71187306
    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_006715422.1XP_006715485.1  nesprin-1 isoform X20

    Conserved Domains (6) summary
    cd00014
    Location:28141
    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:79598169
    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:58916677
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam00307
    Location:187285
    CH; Calponin homology (CH) domain
    pfam10541
    Location:87618792
    KASH; Nuclear envelope localization domain
    cl02488
    Location:71207308
    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_006715407.1XP_006715470.1  nesprin-1 isoform X1

    Conserved Domains (6) summary
    cd00014
    Location:28141
    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:80128222
    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:59446730
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam00307
    Location:187285
    CH; Calponin homology (CH) domain
    pfam10541
    Location:88148845
    KASH; Nuclear envelope localization domain
    cl02488
    Location:71737361
    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_017010611.2XP_016866100.1  nesprin-1 isoform X9

  31. XM_017010612.1XP_016866101.1  nesprin-1 isoform X12

  32. XM_017010619.1XP_016866108.1  nesprin-1 isoform X29

    Conserved Domains (4) summary
    cd00176
    Location:74377647
    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:17652548
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam10541
    Location:82398270
    KASH; Nuclear envelope localization domain
    cl02488
    Location:19482164
    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; ...
  33. XM_011535644.1XP_011533946.1  nesprin-1 isoform X29

    Conserved Domains (4) summary
    cd00176
    Location:74377647
    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:17652548
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam10541
    Location:82398270
    KASH; Nuclear envelope localization domain
    cl02488
    Location:19482164
    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_011535645.2XP_011533947.1  nesprin-1 isoform X30

    Conserved Domains (4) summary
    cd00176
    Location:72687478
    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:15962379
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam10541
    Location:80708101
    KASH; Nuclear envelope localization domain
    cl02488
    Location:17791995
    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; ...

RNA

  1. XR_001743287.1 RNA Sequence

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.
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