SSPN sarcospan [Homo sapiens] - Gene

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Summary

Official Symbol: SSPNprovided by HGNC
Official Full Name: sarcospanprovided by HGNC
Primary source: HGNC:11322
See related: Ensembl:ENSG00000123096; HPRD:03359; MIM:601599; Vega:OTTHUMG00000169167
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]

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Genomic context

Location :: 12p11.2

Sequence :: Chromosome: 12; NC_000012.11 (26348269..26387710)

See SSPN in Epigenomics, MapViewer

Chromosome 12 - NC_000012.11 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
decreased expression of sarcospan at the Fukuyama congenital muscular dystrophy myofiber surfaces.
Title: Reduced expression of sarcospan in muscles of Fukuyama congenital muscular dystrophy.
Human SSPN in transgegnic mice directly interacts with utrophin-glycoprotein comlpex and functions to stabilize utrophin protein without increasing utrophin transcription.
Title: Sarcospan reduces dystrophic pathology: stabilization of the utrophin-glycoprotein complex.
Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator)
Title: Risk for K-ras gene mutations in smoking-induced lung cancer is associated with cytochrome P4501A1 and glutathione S-transferase micro1 polymorphisms.
Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: K-ras mutation in helicobacter pylori-associated chronic gastritis in patients with and without gastric cancer.
crystal structure of Imp beta (127-876) in complex SPN1 (1-65) at 2.8-A resolution reveals that Imp beta adopts an open conformation, which is unique for a functional Imp beta/cargo complex, and resembles the conformation of the Imp beta/RanGTP complex
Title: Structural basis for RanGTP independent entry of spliceosomal U snRNPs into the nucleus.
Sarcospan plays an important mechanical role in stabilizing the dystrophin-glycoprotein complex.
Title: Disrupted mechanical stability of the dystrophin-glycoprotein complex causes severe muscular dystrophy in sarcospan transgenic mice.
Frequent polymorphism of peroxisome proliferator activated receptor gamma gene in colorectal cancer containing wild-type K-ras gene.
Title: Frequent polymorphism of peroxisome proliferator activated receptor gamma gene in colorectal cancer containing wild-type K-ras gene.

Submit: New GeneRIF Correction See all (11)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description
Q14714	Q13326	SGCG		HPRD	PubMed
BioGRID:113755	BioGRID:203576	Supt6h		BioGRID	PubMed	Reconstituted Complex

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	TAS Traceable Author Statement more info	PubMed
integral to plasma membrane	TAS Traceable Author Statement more info	PubMed
postsynaptic membrane	IEA Inferred from Electronic Annotation more info
sarcolemma	IEA Inferred from Electronic Annotation more info
synapse	IEA Inferred from Electronic Annotation more info
transport vesicle	IDA Inferred from Direct Assay more info	PubMed

General protein information

Preferred Names: sarcospan

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

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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

NG_012011.2 RefSeqGene

Range

78346..117787

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001135823.1 → NP_001129295.1 sarcospan isoform 2

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/TrEMBL

B3KS67

Related

ENSP00000396087, OTTHUMP00000240278, ENST00000422622, OTTHUMT00000402653

Conserved Domains (1) summary

pfam04103
Location:15 – 107
Blast Score: 93

CD20; CD20-like family
NM_005086.4 → NP_005077.2 sarcospan isoform 1

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, OTTHUMP00000240279, ENST00000242729, OTTHUMT00000402654

Conserved Domains (1) summary

pfam04103
Location:64 – 210
Blast Score: 163

CD20; CD20-like family

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000012.11 Reference GRCh37.p5 Primary Assembly

Range

26348269..26387710

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000144.1 Alternate HuRef

Range

26118209..26157841

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC022509.21 (117405..156460)	None
genomic	CH471094.1	EAW96532.1
mRNA	AF016028.2	AAC61660.2
mRNA	AK092925.1	BAG52629.1
mRNA	AK304667.1	BAG65442.1
mRNA	AK314353.1	BAG36988.1
mRNA	AL136756.1	CAB66690.1
mRNA	BC062299.1	AAH62299.1
mRNA	BP341300.1	None
mRNA	CA419006.1	None
mRNA	DA073350.1	None
mRNA	DQ897666.1	ABI78937.1
mRNA	EU433933.1	ACA09756.1
mRNA	X89105.1	CAA61479.1
other-genetic	AM392675.1	CAL37553.1
other-genetic	AM392714.1	CAL37592.1