Stom stomatin [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Stomprovided by MGI
Official Full Name: stomatinprovided by MGI
Primary source: MGI:MGI:95403
See related: Ensembl:ENSMUSG00000026880 AllianceGenome:MGI:95403
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Epb7.2
Summary: Enables protein homodimerization activity. Involved in several processes, including positive regulation by host of viral genome replication; positive regulation of protein targeting to membrane; and regulation of acid-sensing ion channel activity. Located in mitochondrion and perinuclear region of cytoplasm. Is integral component of plasma membrane. Is expressed in bladder; gut; and liver lobe. Orthologous to human STOM (stomatin). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in large intestine adult (RPKM 56.5), liver E14.5 (RPKM 49.9) and 27 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 B; 2 23.53 cM

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (35204002..35227021, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (35313990..35337009, complement)

Chromosome 2 - NC_000068.8 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?

Stomatin promotes neutrophil degranulation and vascular leakage in the early stage after severe burn via enhancement of the intracellular binding of neutrophil primary granules to F-actin.
Title: Stomatin promotes neutrophil degranulation and vascular leakage in the early stage after severe burn via enhancement of the intracellular binding of neutrophil primary granules to F-actin.
Regulation of ASIC channels by a stomatin/STOML3 complex located in a mobile vesicle pool in sensory neurons.
Title: Regulation of ASIC channels by a stomatin/STOML3 complex located in a mobile vesicle pool in sensory neurons.
Dimerization of stomatin is crucial for the repression of acid-sensing ion channel 3 (ASIC3) activity.
Title: A stomatin dimer modulates the activity of acid-sensing ion channels.
These observations suggest that stomatin may play important roles in astrocytes and other cells by interacting with Panx1 carboxyl terminal to limit channel opening.
Title: Stomatin inhibits pannexin-1-mediated whole-cell currents by interacting with its carboxyl terminal.
Provides evidence for a new structural form of stomatin.
Title: A single conserved proline residue determines the membrane topology of stomatin.
stomatin is required for normal mechanotransduction in a subpopulation of vertebrate sensory neurons
Title: Stomatin and sensory neuron mechanotransduction.
stomatin binds to and alters the gating of acid-sensing ion channels
Title: Stomatin modulates gating of acid-sensing ion channels.

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Variation

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Alleles

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

Targeted (1) 1 citation
Endonuclease-mediated (5)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables RNA polymerase binding	ISO Inferred from Sequence Orthology more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables ion channel inhibitor activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in positive regulation by host of viral genome replication	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of protein targeting to membrane	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of viral process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of monoatomic ion transmembrane transport	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasmic vesicle	IEA Inferred from Electronic Annotation more info
located_in cytoskeleton	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in membrane raft	ISO Inferred from Sequence Orthology more info
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	ISO Inferred from Sequence Orthology more info
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: stomatin

Names: erythrocyte band 7 integral membrane protein; erythrocyte membrane protein band 7.2; erythrocyte protein band 7.2; erythrocyte protein band 7.2; protein 7.2b; protein 7.2b

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_013515.2 → NP_038543.1 stomatin

See identical proteins and their annotated locations for NP_038543.1

Status: PROVISIONAL

Source sequence(s)

AL773523

Consensus CDS

CCDS15961.1

UniProtKB/Swiss-Prot

O88988, P54116, Q3UP81, Q60744, Q62455

UniProtKB/TrEMBL

Q8BPA1

Related

ENSMUSP00000028241.7, ENSMUST00000028241.7

Conserved Domains (2) summary

smart00244
Location:53 → 204

PHB; prohibitin homologues

cd03403
Location:73 → 274

SPFH_stomatin; Stomatin, a subgroup of the stomatin-like proteins (slipins) family; belonging to the SPFH (stomatin, prohibitin, flotillin, and HflK/C) superfamily