Sspn sarcospan [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Sspnprovided by MGI
Official Full Name: sarcospanprovided by MGI
Primary source: MGI:MGI:1353511
See related: Ensembl:ENSMUSG00000030255 AllianceGenome:MGI:1353511
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Krag; Gm32675
Summary: Located in sarcolemma. Is expressed in early conceptus; secondary oocyte; and skin. Orthologous to human SSPN (sarcospan). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in heart adult (RPKM 26.2), bladder adult (RPKM 15.9) and 13 other tissues See more
Orthologs: human all
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Genomic context

Location:: 6 G3; 6 77.7 cM

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	6	NC_000072.7 (145860423..145910951)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	6	NC_000072.6 (145931873..145965225)

Chromosome 6 - NC_000072.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Sarcospan Deficiency Increases Oxidative Stress and Arrhythmias in Hearts after Acute Ischemia-Reperfusion Injury.
Title: Sarcospan Deficiency Increases Oxidative Stress and Arrhythmias in Hearts after Acute Ischemia-Reperfusion Injury.
Loss of sarcospan exacerbates pathology in mdx mice, but does not affect utrophin amelioration of disease.
Title: Loss of sarcospan exacerbates pathology in mdx mice, but does not affect utrophin amelioration of disease.
An alternatively spliced isoform of sarcospan localizes to the sarcoplasmic reticulum in skeletal muscle. It is absent in Sgcd-/- skeletal muscle, a murine model for limb girdle muscular dystrophy 2F.
Title: Nanospan, an alternatively spliced isoform of sarcospan, localizes to the sarcoplasmic reticulum in skeletal muscle and is absent in limb girdle muscular dystrophy 2F.
these results demonstrate that SSPN overexpression is well tolerated in mdx mice and improves sarcolemma defects that underlie skeletal muscle and pulmonary dysfunction in Duchenne muscular dystrophy
Title: High levels of sarcospan are well tolerated and act as a sarcolemmal stabilizer to address skeletal muscle and pulmonary dysfunction in DMD.
regulates cardiac isoproterenol response and prevents Duchenne muscular dystrophy-associated cardiomyopathy
Title: Sarcospan Regulates Cardiac Isoproterenol Response and Prevents Duchenne Muscular Dystrophy-Associated Cardiomyopathy.
Sarcospan-mediated amelioration of muscular dystrophy in mouse model is dependent on the presence of both utrophin and alpha7beta1 integrin.
Title: Sarcospan integration into laminin-binding adhesion complexes that ameliorate muscular dystrophy requires utrophin and α7 integrin.
SSPN is a necessary component of dystrophin and Utr function and that SSPN modulation of integrin signaling is required for extracellular matrix attachment and muscle force development.
Title: Dystrophin and utrophin expression require sarcospan: loss of α7 integrin exacerbates a newly discovered muscle phenotype in sarcospan-null mice.
Sarcospan-null mice displayed delayed differentiation after cardiotoxin injury caused by loss of utrophin and Akt signaling
Title: Sarcospan-dependent Akt activation is required for utrophin expression and muscle regeneration.
Sspn is downregulated in brain during hypoxia. Knockdown of Sspn increased cultured cell death under hypoxia.
Title: Gene expression in mouse brain following chronic hypoxia: role of sarcospan in glial cell death.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Gene trapped (1)
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PMC29083P2 (e-PCR)
- UniSTS:272428

PMC85350P1 (e-PCR)
- UniSTS:273470

U02487 (e-PCR)
- UniSTS:159588

UniSTS:498280 (e-PCR)
- UniSTS:498280

Sspn (e-PCR), detects polymorphism
- UniSTS:498280

Sspn (e-PCR), detects polymorphism
- UniSTS:143723

Sspn (e-PCR), detects polymorphism
- UniSTS:143724

D6Mit200 (e-PCR), detects polymorphism
- UniSTS:130743

RH137524 (e-PCR)
- UniSTS:219612

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables protein-containing complex binding	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
part_of dystrophin-associated glycoprotein complex	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in postsynaptic membrane	IEA Inferred from Electronic Annotation more info
is_active_in sarcolemma	IBA Inferred from Biological aspect of Ancestor more info
located_in sarcolemma	IDA Inferred from Direct Assay more info	PubMed
located_in transport vesicle	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: sarcospan

Names: K-ras oncogene-associated protein; Kras oncogene-associated; kirsten-Ras-associated protein

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.

mRNA and Protein(s)

NM_001310837.1 → NP_001297766.1 sarcospan isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream start codon, compared to variant 1. It encodes isoform 2, which has a shorter N-terminus, compared to isoform 1.

Source sequence(s)

AC144936, AK164529, CA558278, CF915662, CK333705

Consensus CDS

CCDS80637.1

UniProtKB/TrEMBL

E9Q8Y7

Related

ENSMUSP00000107331.2, ENSMUST00000111702.8

Conserved Domains (1) summary

pfam04103
Location:9 → 107

CD20; CD20-like family
NM_010656.3 → NP_034786.1 sarcospan isoform 1

See identical proteins and their annotated locations for NP_034786.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC144936

Consensus CDS

CCDS20698.1

UniProtKB/Swiss-Prot

Q60594, Q62147

UniProtKB/TrEMBL

Q3TPB3, Q3TRE0

Related

ENSMUSP00000032383.8, ENSMUST00000032383.14

Conserved Domains (1) summary

pfam04103
Location:37 → 183

CD20; CD20-like family

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000072.7 Reference GRCm39 C57BL/6J

Range

145860423..145910951

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036165893.1 → XP_036021786.1 sarcospan isoform X2

UniProtKB/TrEMBL

E9Q8Y7

Conserved Domains (1) summary

pfam04103
Location:9 → 107

CD20; CD20-like family
XM_006506916.5 → XP_006506979.1 sarcospan isoform X1

Conserved Domains (1) summary

pfam04103
Location:4 → 120

CD20; CD20-like family