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SSPN sarcospan [ Homo sapiens (human) ]

Gene ID: 8082, updated on 21-Dec-2019

Summary

Official Symbol
SSPNprovided by HGNC
Official Full Name
sarcospanprovided by HGNC
Primary source
HGNC:HGNC:11322
See related
Ensembl:ENSG00000123096 MIM:601599
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
KRAG; NSPN; SPN1; SPN2; DAGA5
Summary
This gene encodes a member of the dystrophin-glycoprotein complex (DGC). The DGC spans the sarcolemma and is comprised of dystrophin, syntrophin, alpha- and beta-dystroglycans and sarcoglycans. The DGC provides a structural link between the subsarcolemmal cytoskeleton and the extracellular matrix of muscle cells. Two alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Oct 2008]
Expression
Ubiquitous expression in heart (RPKM 16.0), ovary (RPKM 15.7) and 22 other tissues See more
Orthologs

Genomic context

See SSPN in Genome Data Viewer
Location:
12p12.1
Exon count:
7
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (26121951..26234777)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (26348032..26387710)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene RASSF8 antisense RNA 1 Neighboring gene Ras association domain family member 8 Neighboring gene uncharacterized LOC107984501 Neighboring gene basic helix-loop-helix family member e41 Neighboring gene uncharacterized LOC101928554 Neighboring gene uncharacterized LOC105369705 Neighboring gene uncharacterized LOC105369704 Neighboring gene uncharacterized LOC107984482

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
Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
cell adhesion TAS
Traceable Author Statement
more info
PubMed 
muscle contraction TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cell junction IEA
Inferred from Electronic Annotation
more info
 
dystrophin-associated glycoprotein complex IEA
Inferred from Electronic Annotation
more info
 
integral component of plasma membrane IEA
Inferred from Electronic Annotation
more info
 
postsynaptic membrane IEA
Inferred from Electronic Annotation
more info
 
sarcolemma IEA
Inferred from Electronic Annotation
more info
 
transport vesicle IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
sarcospan
Names
K-ras oncogene-associated protein
Kras oncogene-associated
kirsten-ras-associated protein
microspan
nanospan
sarcospan (Kras oncogene-associated gene)

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.

Genomic

  1. NG_012011.2 RefSeqGene

    Range
    78346..117787
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_209

mRNA and Protein(s)

  1. NM_001135823.1NP_001129295.1  sarcospan isoform 2

    See identical proteins and their annotated locations for NP_001129295.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses a different segment for its 5' UTR and lacks a 5' coding segment which results in the use of a downstream start codon, compared to variant 1. The resulting protein (isoform 2) is shorter when it is compared to isoform 1.
    Source sequence(s)
    AC022509, AK092925, CA419006, DA073350
    Consensus CDS
    CCDS44850.1
    UniProtKB/Swiss-Prot
    Q14714
    Related
    ENSP00000396087.2, ENST00000422622.3
    Conserved Domains (1) summary
    pfam04103
    Location:9107
    CD20; CD20-like family
  2. NM_005086.4NP_005077.2  sarcospan isoform 1

    See identical proteins and their annotated locations for NP_005077.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and it encodes the longer protein (isoform 1).
    Source sequence(s)
    AC022509, AL136756, BP341300, CA419006
    Consensus CDS
    CCDS8707.1
    UniProtKB/Swiss-Prot
    Q14714
    Related
    ENSP00000242729.2, ENST00000242729.6
    Conserved Domains (1) summary
    pfam04103
    Location:64210
    CD20; CD20-like family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    26121951..26234777
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011520853.3XP_011519155.1  sarcospan isoform X1

    See identical proteins and their annotated locations for XP_011519155.1

    UniProtKB/Swiss-Prot
    Q14714
    Related
    ENSP00000445360.1, ENST00000538142.5
    Conserved Domains (1) summary
    pfam04103
    Location:9107
    CD20; CD20-like family
  2. XM_011520855.2XP_011519157.1  sarcospan isoform X1

    See identical proteins and their annotated locations for XP_011519157.1

    UniProtKB/Swiss-Prot
    Q14714
    Related
    ENSP00000442893.1, ENST00000540266.5
    Conserved Domains (1) summary
    pfam04103
    Location:9107
    CD20; CD20-like family
  3. XM_011520854.2XP_011519156.1  sarcospan isoform X1

    See identical proteins and their annotated locations for XP_011519156.1

    UniProtKB/Swiss-Prot
    Q14714
    Conserved Domains (1) summary
    pfam04103
    Location:9107
    CD20; CD20-like family
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