Stomatin Explained

Stomatin also known as human erythrocyte integral membrane protein band 7 is a protein that in humans is encoded by the STOM gene.^{[1] [2]}

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.^[2]

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.^[2]

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.

Further reading

• Stewart GW . Stomatin. . Int. J. Biochem. Cell Biol. . 29 . 2 . 271–4 . 1997 . 9147127 . 10.1016/S1357-2725(96)00072-6 .
• Stewart GW, Hepworth-Jones BE, Keen JN, etal . Isolation of cDNA coding for an ubiquitous membrane protein deficient in high Na+, low K+ stomatocytic erythrocytes. . Blood . 79 . 6 . 1593–601 . 1992 . 1547348 . 10.1182/blood.V79.6.1593.1593. free .
• Gallagher PG, Forget BG . Structure, organization, and expression of the human band 7.2b gene, a candidate gene for hereditary hydrocytosis. . J. Biol. Chem. . 270 . 44 . 26358–63 . 1995 . 7592848 . 10.1074/jbc.270.44.26358 . free .
• Salzer U, Ahorn H, Prohaska R . 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 . 1993 . 8373790 . 10.1016/0005-2736(93)90098-K .
• Westberg JA, Entler B, Prohaska R, Schröder JP . 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 . 1993 . 8500356 . 10.1159/000133542 .
• Unfried I, Entler B, Prohaska R . The organization of the gene (EPB72) encoding the human erythrocyte band 7 integral membrane protein (protein 7.2b). . Genomics . 30 . 3 . 521–8 . 1997 . 8825639 . 10.1006/geno.1995.1273 .
• Snyers L, Thinès-Sempoux D, Prohaska R . Colocalization of stomatin (band 7.2b) and actin microfilaments in UAC epithelial cells. . Eur. J. Cell Biol. . 73 . 3 . 281–5 . 1997 . 9243190 .
• Mayer H, Salzer U, Breuss J, etal . Isolation, molecular characterization, and tissue-specific expression of a novel putative G protein-coupled receptor. . Biochim. Biophys. Acta . 1395 . 3 . 301–8 . 1998 . 9512664 . 10.1016/s0167-4781(97)00178-4.
• Snyers L, Umlauf E, Prohaska R . Oligomeric nature of the integral membrane protein stomatin. . J. Biol. Chem. . 273 . 27 . 17221–6 . 1998 . 9642292 . 10.1074/jbc.273.27.17221 . free .
• Snyers L, Umlauf E, Prohaska R . Cysteine 29 is the major palmitoylation site on stomatin. . FEBS Lett. . 449 . 2–3 . 101–4 . 1999 . 10338112 . 10.1016/S0014-5793(99)00417-2 . 19587098 . free .
• Zhang JZ, Hayashi H, Ebina Y, etal . Association of stomatin (band 7.2b) with Glut1 glucose transporter . Arch. Biochem. Biophys. . 372 . 1 . 173–8 . 1999 . 10562431 . 10.1006/abbi.1999.1489 .
• Mairhofer M, Steiner M, Mosgoeller W, etal . Stomatin is a major lipid-raft component of platelet alpha granules . Blood . 100 . 3 . 897–904 . 2002 . 12130500 . 10.1182/blood.V100.3.897 . free .
• Feuk-Lagerstedt E, Samuelsson M, Mosgoeller W, etal . The presence of stomatin in detergent-insoluble domains of neutrophil granule membranes . J. Leukoc. Biol. . 72 . 5 . 970–7 . 2002 . 10.1189/jlb.72.5.970 . 12429719 . 6637319 . free .
• Strausberg RL, Feingold EA, Grouse LH, etal . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences . Proc. Natl. Acad. Sci. U.S.A. . 99 . 26 . 16899–903 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . free . 2002PNAS...9916899M .
• Basrur V, Yang F, Kushimoto T, etal . Proteomic analysis of early melanosomes: identification of novel melanosomal proteins . J. Proteome Res. . 2 . 1 . 69–79 . 2003 . 12643545 . 10.1021/pr025562r .
• Fricke B, Argent AC, Chetty MC, etal . The "stomatin" gene and protein in overhydrated hereditary stomatocytosis . Blood . 102 . 6 . 2268–77 . 2003 . 12750157 . 10.1182/blood-2002-06-1705 . free .
• Green JB, Fricke B, Chetty MC, etal . Eukaryotic and prokaryotic stomatins: the proteolytic link . Blood Cells Mol. Dis. . 32 . 3 . 411–22 . 2005 . 15121101 . 10.1016/j.bcmd.2004.01.016 .
• Humphray SJ, Oliver K, Hunt AR, etal . DNA sequence and analysis of human chromosome 9 . Nature . 429 . 6990 . 369–74 . 2004 . 15164053 . 10.1038/nature02465 . 2734081 . 2004Natur.429..369H .

Notes and References

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