Stomatin

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STOM
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases STOM, BND7, EPB7, EPB72, stomatin
External IDs MGI: 95403 HomoloGene: 81681 GeneCards: STOM
RNA expression pattern
PBB GE STOM 201061 s at fs.png

PBB GE STOM 201060 x at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
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_038543.1
NP_038543

Location (UCSC) Chr 9: 121.34 – 121.37 Mb Chr 2: 35.31 – 35.34 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Stomatin also known as human erythrocyte integral membrane protein band 7 is a protein that in humans is encoded by the STOM gene.[3][4]

Clinical significance[edit]

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.[4]

Function[edit]

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.[4]

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.

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ Hiebl-Dirschmied CM, Entler B, Glotzmann C, Maurer-Fogy I, Stratowa C, Prohaska R (Oct 1991). "Cloning and nucleotide sequence of cDNA encoding human erythrocyte band 7 integral membrane protein". Biochim Biophys Acta. 1090 (1): 123–4. doi:10.1016/0167-4781(91)90047-P. PMID 1883838. 
  4. ^ a b c "Entrez Gene: STOM stomatin". 

Further reading[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.