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SYNE3 spectrin repeat containing nuclear envelope family member 3 [ Homo sapiens (human) ]

Gene ID: 161176, updated on 1-Jun-2020

Summary

Official Symbol
SYNE3provided by HGNC
Official Full Name
spectrin repeat containing nuclear envelope family member 3provided by HGNC
Primary source
HGNC:HGNC:19861
See related
Ensembl:ENSG00000176438 MIM:610861
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
KASH3; NET53; Nesp3; C14orf49; C14orf139; LINC00341; NCRNA00341
Expression
Ubiquitous expression in fat (RPKM 4.3), bone marrow (RPKM 3.9) and 24 other tissues See more
Orthologs

Genomic context

See SYNE3 in Genome Data Viewer
Location:
14q32.13
Exon count:
21
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (95407266..95516693, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (95883831..95983000, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370639 Neighboring gene uncharacterized LOC105370640 Neighboring gene uncharacterized LOC101929107 Neighboring gene uncharacterized LOC112268122 Neighboring gene CRISPRi-validated cis-regulatory element chr14.2067 Neighboring gene small Cajal body-specific RNA 13 Neighboring gene small nucleolar RNA host gene 10

Genomic regions, transcripts, and products

Expression

  • 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
A genome-wide association study of survival in small-cell lung cancer patients treated with irinotecan plus cisplatin chemotherapy.
NHGRI GWA Catalog
Genome-wide association study of sex hormones, gonadotropins and sex hormone-binding protein in Chinese men.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ21276, FLJ25605, MGC75267

Gene Ontology Provided by GOA

Function Evidence Code Pubs
actin filament binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
actin filament binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cytoskeleton organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
establishment of protein localization to membrane IDA
Inferred from Direct Assay
more info
PubMed 
nuclear migration IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus localization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of cell shape IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cell IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
meiotic nuclear membrane microtubule tethering complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
meiotic nuclear membrane microtubule tethering complex IDA
Inferred from Direct Assay
more info
PubMed 
membrane HDA PubMed 
nuclear envelope IDA
Inferred from Direct Assay
more info
PubMed 
nuclear membrane IDA
Inferred from Direct Assay
more info
 
nuclear outer membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
rough endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
nesprin-3
Names
KASH domain-containing protein 3
long intergenic non-protein coding RNA 341
nuclear envelope spectrin repeat protein 3
uncharacterized protein C14orf113

NCBI Reference Sequences (RefSeq)

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.

mRNA and Protein(s)

  1. NM_001363692.1NP_001350621.1  nesprin-3 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AL138539
    Consensus CDS
    CCDS86430.1
    Related
    ENSP00000450562.1, ENST00000557275.5
    Conserved Domains (3) summary
    pfam10541
    Location:941970
    KASH; Nuclear envelope localization domain
    cl02488
    Location:562739
    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; ...
    cl25732
    Location:141760
    SMC_N; RecF/RecN/SMC N terminal domain
  2. NM_152592.5NP_689805.3  nesprin-3 isoform 1

    See identical proteins and their annotated locations for NP_689805.3

    Status: VALIDATED

    Source sequence(s)
    AK098471, AK131436, AL138539, BC008299, BX342493, BX346277
    Consensus CDS
    CCDS9935.1
    UniProtKB/Swiss-Prot
    Q6ZMZ3
    Related
    ENSP00000334308.4, ENST00000334258.9
    Conserved Domains (3) summary
    TIGR02168
    Location:141760
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam10541
    Location:946975
    KASH; Nuclear envelope localization domain
    cl02488
    Location:562739
    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 Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

    Range
    95407266..95516693 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005267377.4XP_005267434.1  nesprin-3 isoform X3

    See identical proteins and their annotated locations for XP_005267434.1

    UniProtKB/Swiss-Prot
    Q6ZMZ3
    Conserved Domains (3) summary
    TIGR02168
    Location:141760
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam10541
    Location:946975
    KASH; Nuclear envelope localization domain
    cl02488
    Location:562739
    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_006720063.4XP_006720126.1  nesprin-3 isoform X3

    See identical proteins and their annotated locations for XP_006720126.1

    UniProtKB/Swiss-Prot
    Q6ZMZ3
    Conserved Domains (3) summary
    TIGR02168
    Location:141760
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam10541
    Location:946975
    KASH; Nuclear envelope localization domain
    cl02488
    Location:562739
    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_011536515.3XP_011534817.1  nesprin-3 isoform X2

    Conserved Domains (3) summary
    TIGR02168
    Location:149768
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam10541
    Location:954983
    KASH; Nuclear envelope localization domain
    cl02488
    Location:570747
    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_017021057.1XP_016876546.1  nesprin-3 isoform X4

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_024633.2: Suppressed sequence

    Description
    NM_024633.2: This RefSeq was permanently suppressed because currently there is support for the transcript but not for the protein.
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