Stomatin

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Stomatin
Identifiers
Symbols STOM ; BND7; EPB7; EPB72
External IDs OMIM133090 MGI95403 HomoloGene81681 GeneCards: STOM Gene
RNA expression pattern
PBB GE STOM 201060 x at tn.png
PBB GE STOM 201061 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 2040 13830
Ensembl ENSG00000148175 ENSMUSG00000026880
UniProt P27105 P54116
RefSeq (mRNA) NM_001270526 NM_013515
RefSeq (protein) NP_001257455 NP_038543
Location (UCSC) Chr 9:
121.34 – 121.37 Mb
Chr 2:
35.31 – 35.34 Mb
PubMed search [1] [2]

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[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.[2]

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.[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

References[edit]

  1. ^ 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. 
  2. ^ a b c "Entrez Gene: STOM stomatin". 

Further reading[edit]

  • Stewart GW (1997). "Stomatin.". Int. J. Biochem. Cell Biol. 29 (2): 271–4. doi:10.1016/S1357-2725(96)00072-6. PMID 9147127. 
  • Stewart GW, Hepworth-Jones BE, Keen JN et al. (1992). "Isolation of cDNA coding for an ubiquitous membrane protein deficient in high Na+, low K+ stomatocytic erythrocytes.". Blood 79 (6): 1593–601. PMID 1547348. 
  • Gallagher PG, Forget BG (1995). "Structure, organization, and expression of the human band 7.2b gene, a candidate gene for hereditary hydrocytosis.". J. Biol. Chem. 270 (44): 26358–63. doi:10.1074/jbc.270.44.26358. PMID 7592848. 
  • 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. PMID 8373790. 
  • 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. PMID 8500356. 
  • 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. PMID 8825639. 
  • 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. PMID 9243190. 
  • 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. PMID 9512664. 
  • Snyers L, Umlauf E, Prohaska R (1998). "Oligomeric nature of the integral membrane protein stomatin.". J. Biol. Chem. 273 (27): 17221–6. doi:10.1074/jbc.273.27.17221. PMID 9642292. 
  • Snyers L, Umlauf E, Prohaska R (1999). "Cysteine 29 is the major palmitoylation site on stomatin.". FEBS Lett. 449 (2–3): 101–4. doi:10.1016/S0014-5793(99)00417-2. PMID 10338112. 
  • Zhang JZ, Hayashi H, Ebina Y et al. (1999). "Association of stomatin (band 7.2b) with Glut1 glucose transporter". Arch. Biochem. Biophys. 372 (1): 173–8. doi:10.1006/abbi.1999.1489. PMID 10562431. 
  • Mairhofer M, Steiner M, Mosgoeller W et al. (2002). "Stomatin is a major lipid-raft component of platelet alpha granules". Blood 100 (3): 897–904. doi:10.1182/blood.V100.3.897. PMID 12130500. 
  • Feuk-Lagerstedt E, Samuelsson M, Mosgoeller W et al. (2002). "The presence of stomatin in detergent-insoluble domains of neutrophil granule membranes". J. Leukoc. Biol. 72 (5): 970–7. PMID 12429719. 
  • Strausberg RL, Feingold EA, Grouse LH et al. (2003). "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. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932. 
  • 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. PMID 12643545. 
  • Fricke B, Argent AC, Chetty MC et al. (2003). "The "stomatin" gene and protein in overhydrated hereditary stomatocytosis". Blood 102 (6): 2268–77. doi:10.1182/blood-2002-06-1705. PMID 12750157. 
  • Green JB, Fricke B, Chetty MC et al. (2005). "Eukaryotic and prokaryotic stomatins: the proteolytic link". Blood Cells Mol. Dis. 32 (3): 411–22. doi:10.1016/j.bcmd.2004.01.016. PMID 15121101. 
  • Humphray SJ, Oliver K, Hunt AR et al. (2004). "DNA sequence and analysis of human chromosome 9". Nature 429 (6990): 369–74. doi:10.1038/nature02465. PMC 2734081. PMID 15164053. 


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