Stomatin also known as human erythrocyte integral membrane protein band 7 is a protein that in humans is encoded by the STOMgene.[5][6]
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.
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^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. PMID1883838.
Salzer U, Ahorn H, Prohaska R (1993). "Identification of the phosphorylation site on human erythrocyte band 7 integral membrane protein: implications for a monotopic protein structure". Biochim. Biophys. Acta. 1151 (2): 149–52. doi:10.1016/0005-2736(93)90098-K. PMID8373790.
Westberg JA, Entler B, Prohaska R, Schröder JP (1993). "The gene coding for erythrocyte protein band 7.2b (EPB72) is located in band q34.1 of human chromosome 9". Cytogenet. Cell Genet. 63 (4): 241–3. doi:10.1159/000133542. PMID8500356.
Unfried I, Entler B, Prohaska R (1997). "The organization of the gene (EPB72) encoding the human erythrocyte band 7 integral membrane protein (protein 7.2b)". Genomics. 30 (3): 521–8. doi:10.1006/geno.1995.1273. PMID8825639.
Snyers L, Thinès-Sempoux D, Prohaska R (1997). "Colocalization of stomatin (band 7.2b) and actin microfilaments in UAC epithelial cells". Eur. J. Cell Biol. 73 (3): 281–5. PMID9243190.
Mayer H, Salzer U, Breuss J, et al. (1998). "Isolation, molecular characterization, and tissue-specific expression of a novel putative G protein-coupled receptor". Biochim. Biophys. Acta. 1395 (3): 301–8. doi:10.1016/s0167-4781(97)00178-4. PMID9512664.
Basrur V, Yang F, Kushimoto T, et al. (2003). "Proteomic analysis of early melanosomes: identification of novel melanosomal proteins". J. Proteome Res. 2 (1): 69–79. doi:10.1021/pr025562r. PMID12643545.
Overview of all the structural information available in the PDB for UniProt: P54116 (Mouse Erythrocyte band 7 integral membrane protein) at the PDBe-KB.
