Spectrin, alpha, erythrocytic 1 (elliptocytosis 2) File:PBB Protein SPTA1 image.jpg PDB rendering based on 1owa. | Available structures PDB | Ortholog search: Template:Homologene2PDBe PDBe, Template:Homologene2uniprot RCSB | List of PDB id codes 1owa​ Identifiers Symbols| SPTA1 ; EL2; SPTA External IDs| Template:OMIM5 Template:MGI HomoloGene: 74460 | Gene ontology Molecular function | Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Cellular component | Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Biological process | Template:GNF GO Template:GNF GO Template:GNF GO RNA expression pattern File:PBB GE SPTA1 206937 at tn.png More reference expression data Orthologs Template:GNF Ortholog box Species| Human| Mouse Entrez| n/a| n/a Ensembl| n/a| n/a UniProt| n/a| n/a RefSeq (mRNA)| n/a| n/a RefSeq (protein)| n/a| n/a Location (UCSC)| n/a| n/a PubMed search| n/a| n/a Spectrin, alpha, erythrocytic 1 (elliptocytosis 2), also known as SPTA1, is a human gene.[1] Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. It is a tetramer made up of alpha-beta dimers linked in a head-to-head arrangement. This gene is one member of a family of alpha-spectrin genes. The encoded protein is primarily composed of 22 spectrin repeats which are involved in dimer formation. It forms weaker tetramer interactions than non-erythrocytic alpha spectrin, which may increase the plasma membrane elasticity and deformability of red blood cells. Mutations in this gene result in a variety of hereditary red blood cell disorders, including elliptocytosis type 2, pyropoikilocytosis, and spherocytic hemolytic anemia.[1] ## References[edit | edit source] 1. ↑ 1.0 1.1 "Entrez Gene: SPTA1 spectrin, alpha, erythrocytic 1 (elliptocytosis 2)". ## Further reading[edit | edit source] * Gallagher PG, Forget BG (1993). "Spectrin genes in health and disease". Semin. Hematol. 30 (1): 4–20. PMID 8094577. * Delaunay J, Dhermy D (1993). "Mutations involving the spectrin heterodimer contact site: clinical expression and alterations in specific function". Semin. Hematol. 30 (1): 21–33. PMID 8434258. * Snásel J, Pichová I (1997). "The cleavage of host cell proteins by HIV-1 protease". Folia Biol. (Praha). 42 (5): 227–30. PMID 8997639. * Iolascon A, Miraglia del Giudice E, Perrotta S; et al. (1998). "Hereditary spherocytosis: from clinical to molecular defects". Haematologica. 83 (3): 240–57. PMID 9573679.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link) * De Matteis MA, Morrow JS (2000). "Spectrin tethers and mesh in the biosynthetic pathway". J. Cell. Sci. 113 ( Pt 13): 2331–43. PMID 10852813. * Delaunay J (2003). "Molecular basis of red cell membrane disorders". Acta Haematol. 108 (4): 210–8. PMID 12432217. * Dhermy D, Schrével J, Lecomte MC (2007). "Spectrin-based skeleton in red blood cells and malaria". Curr. Opin. Hematol. 14 (3): 198–202. doi:10.1097/MOH.0b013e3280d21afd. PMID 17414207.CS1 maint: Multiple names: authors list (link) * Hentati A, Hu P, Asgharzadeh S, Siddique T (1993). "Dinucleotide repeat polymorphism at the human erythroid alpha spectrin (SPTA1) locus". Hum. Mol. Genet. 1 (3): 218. PMID 1339473.CS1 maint: Multiple names: authors list (link) * Kanzaki A, Rabodonirina M, Yawata Y; et al. (1992). "A deletional frameshift mutation of the beta-spectrin gene associated with elliptocytosis in spectrin Tokyo (beta 220/216)". Blood. 80 (8): 2115–21. PMID 1391962.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link) * Gallagher PG, Tse WT, Coetzer T; et al. (1992). "A common type of the spectrin alpha I 46-50a-kD peptide abnormality in hereditary elliptocytosis and pyropoikilocytosis is associated with a mutation distant from the proteolytic cleavage site. Evidence for the functional importance of the triple helical model of spectrin". J. Clin. Invest. 89 (3): 892–8. PMID 1541680.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link) * Speicher DW, Weglarz L, DeSilva TM (1992). "Properties of human red cell spectrin heterodimer (side-to-side) assembly and identification of an essential nucleation site". J. Biol. Chem. 267 (21): 14775–82. PMID 1634521.CS1 maint: Multiple names: authors list (link) * Alloisio N, Wilmotte R, Morlé L; et al. (1992). "Spectrin Jendouba: an alpha II/31 spectrin variant that is associated with elliptocytosis and carries a mutation distant from the dimer self-association site". Blood. 80 (3): 809–15. PMID 1638030.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link) * Kotula L, Laury-Kleintop LD, Showe L; et al. (1991). "The exon-intron organization of the human erythrocyte alpha-spectrin gene". Genomics. 9 (1): 131–40. PMID 1672285.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link) * Coetzer TL, Sahr K, Prchal J; et al. (1991). "Four different mutations in codon 28 of alpha spectrin are associated with structurally and functionally abnormal spectrin alpha I/74 in hereditary elliptocytosis". J. Clin. Invest. 88 (3): 743–9. PMID 1679439.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link) * Sahr KE, Laurila P, Kotula L; et al. (1990). "The complete cDNA and polypeptide sequences of human erythroid alpha-spectrin". J. Biol. Chem. 265 (8): 4434–43. PMID 1689726.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link) * Gallagher PG, Tse WT, Marchesi SL; et al. (1993). "A defect in alpha-spectrin mRNA accumulation in hereditary pyropoikilocytosis". Trans. Assoc. Am. Physicians. 104: 32–9. PMID 1845156.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link) * Floyd PB, Gallagher PG, Valentino LA; et al. (1991). "Heterogeneity of the molecular basis of hereditary pyropoikilocytosis and hereditary elliptocytosis associated with increased levels of the spectrin alpha I/74-kilodalton tryptic peptide". Blood. 78 (5): 1364–72. PMID 1878597.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link) * Shoeman RL, Kesselmier C, Mothes E; et al. (1991). "Non-viral cellular substrates for human immunodeficiency virus type 1 protease". FEBS Lett. 278 (2): 199–203. PMID 1991513.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link) * Garbarz M, Tse WT, Gallagher PG; et al. (1991). "Spectrin Rouen (beta 220-218), a novel shortened beta-chain variant in a kindred with hereditary elliptocytosis. Characterization of the molecular defect as exon skipping due to a splice site mutation". J. Clin. Invest. 88 (1): 76–81. PMID 2056132.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link) * Tse WT, Gallagher PG, Pothier B; et al. (1991). "An insertional frameshift mutation of the beta-spectrin gene associated with elliptocytosis in spectrin nice (beta 220/216)". Blood. 78 (2): 517–23. PMID 2070088.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link) | This protein-related article is a stub. You can help Wikipedia by expanding it. * v * t * e | Template:WikiDoc Sources *[v]: View this template *[t]: Discuss this template *[e]: Edit this template