Stomatin

"STOM" redirects here. For Ship-to-objective maneuver, see Expeditionary maneuver warfare.

Stomatin also known as human erythrocyte integral membrane protein band 7 is a protein that in humans is encoded by the STOM gene.^[5][6]

STOM
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 4FVF, 4FVG, 4FVJ
Identifiers
Aliases	STOM, BND7, EPB7, EPB72, stomatin
External IDs	OMIM: 133090; MGI: 95403; HomoloGene: 81681; GeneCards: STOM; OMA:STOM - orthologs
Gene location (Human) Chr. Chromosome 9 (human)[1] Band 9q33.2 Start 121,338,987 bp[1] End 121,370,304 bp[1]
Gene location (Mouse) Chr. Chromosome 2 (mouse)[2] Band 2 B|2 23.53 cM Start 35,203,998 bp[2] End 35,226,988 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in visceral pleura pericardium vena cava trabecular bone saphenous vein right lung palpebral conjunctiva lower lobe of lung parietal pleura epithelium of colon Top expressed in olfactory epithelium spermatocyte fetal liver hematopoietic progenitor cell blood tibiofemoral joint secondary oocyte zygote brown adipose tissue right ventricle ankle More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein homodimerization activity protein binding RNA polymerase binding identical protein binding Cellular component vesicle blood microparticle membrane melanosome integral component of plasma membrane endoplasmic reticulum mitochondrion perinuclear region of cytoplasm membrane raft extracellular exosome cytoskeleton cytoplasmic vesicle extracellular space cytoplasm cytosol plasma membrane azurophil granule membrane specific granule membrane tertiary granule membrane integral component of membrane Biological process regulation of ion transmembrane transport positive regulation by host of viral genome replication regulation of acid-sensing ion channel activity protein homooligomerization positive regulation of viral process positive regulation of protein targeting to membrane neutrophil degranulation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 2040 13830 Ensembl ENSG00000148175 ENSMUSG00000026880 UniProt P27105 P54116 RefSeq (mRNA) NM_001270526 NM_001270527 NM_004099 NM_198194 NM_013515 RefSeq (protein) NP_001257455 NP_001257456 NP_004090 NP_937837 NP_004090.4 NP_038543 Location (UCSC) Chr 9: 121.34 – 121.37 Mb Chr 2: 35.2 – 35.23 Mb PubMed search [3] [4]
Wikidata
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Clinical significance

Stomatin is a 31 kDa integral membrane protein, named after the rare human haemolytic anaemia hereditary stomatocytosis. This gene encodes a member of a highly conserved family of integral membrane proteins. The encoded protein localizes to the cell membrane of red blood cells and other cell types, where it may regulate ion channels and transporters. Loss of localization of the encoded protein is associated with hereditary stomatocytosis, a form of hemolytic anemia.^[6]

Function

This gene encodes a member of a highly conserved family of integral membrane proteins. The encoded protein localizes to the cell membrane of red blood cells and other cell types, where it may regulate ion channels and transporters. Loss of localization of the encoded protein is associated with hereditary stomatocytosis, a form of hemolytic anemia.^[6]

Although the wide distribution of stomatin and its constitutive expression suggest an important role for this protein in cell biology, perhaps as a “house-keeping” component, its function remains undetermined. The massive presence of stomatin in membrane-protruding folds and extensions suggests a possible structural role for this protein in the formation of these structures and/or the anchorage to the actin cytoskeleton.