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Spectrin Alpha 1, Erythrocytic (SPTa1)

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SPT-A1; EL2; Elliptocytosis 2; Erythroid alpha-spectrin

Spectrin Alpha 1, Erythrocytic (SPTa1)
CCC C893
HGNC 11272
MGI 98385
PubMed 1339473
RGD 1305194
UniProt P02549
Wiki SPTA1
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. Spectrin alpha chain, erythrocyte 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.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Spectrin Alpha 1, Erythrocytic (SPTa1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Spectrin Alpha 1, Erythrocytic (SPTa1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Spectrin Alpha 1, Erythrocytic (SPTa1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Spectrin Alpha 1, Erythrocytic (SPTa1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Spectrin Alpha 1, Erythrocytic (SPTa1) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Spectrin Alpha 1, Erythrocytic (SPTa1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Spectrin Alpha 1, Erythrocytic (SPTa1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Spectrin Alpha 1, Erythrocytic (SPTa1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Spectrin Alpha 1, Erythrocytic (SPTa1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Spectrin Alpha 1, Erythrocytic (SPTa1) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Spectrin Alpha 1, Erythrocytic (SPTa1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Spectrin Alpha 1, Erythrocytic (SPTa1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Spectrin Alpha 1, Erythrocytic (SPTa1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Spectrin Alpha 1, Erythrocytic (SPTa1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Spectrin Alpha 1, Erythrocytic (SPTa1) ELISA Kit Customized Service Offer
  1. "The complete cDNA and polypeptide sequences of human erythroid alpha-spectrin."J. Biol. Chem. 265:4434-4443(1990) [PubMed] [Europe PMC] [Abstract]
  2. "The DNA sequence and biological annotation of human chromosome 1." Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
  3. "Sequence and exon-intron organization of the DNA encoding the alpha I domain of human spectrin. Application to the study of mutations causing hereditary elliptocytosis."J. Clin. Invest. 84:1243-1252(1989) [PubMed] [Europe PMC] [Abstract]
  4. "Structure of human erythrocyte spectrin. II. The sequence of the alpha-I domain."J. Biol. Chem. 258:14938-14947(1983) [PubMed] [Europe PMC] [Abstract]
  5. "Structure of human erythrocyte spectrin. I. Isolation of the alpha-I domain and its cyanogen bromide peptides."J. Biol. Chem. 258:14931-14937(1983) [PubMed] [Europe PMC] [Abstract]
  6. "Cloning of a portion of the chromosomal gene for human erythrocyte alpha-spectrin by using a synthetic gene fragment."Proc. Natl. Acad. Sci. U.S.A. 83:2397-2401(1986) [PubMed] [Europe PMC] [Abstract]
  7. "Sequence comparison of human and murine erythrocyte alpha-spectrin cDNA."Gene 36:357-362(1985) [PubMed] [Europe PMC] [Abstract]
  8. "Erythrocyte spectrin is comprised of many homologous triple helical segments."Nature 311:177-180(1984) [PubMed] [Europe PMC] [Abstract]
  9. "Properties of human red cell spectrin heterodimer (side-to-side) assembly and identification of an essential nucleation site."J. Biol. Chem. 267:14775-14782(1992) [PubMed] [Europe PMC] [Abstract]
  10. "The first human alpha-spectrin structural domain begins with serine."J. Biol. Chem. 269:25955-25958(1994) [PubMed] [Europe PMC] [Abstract]
  11. Unpublished observations (MAR-1995)
  12. "Identification of SH3 domain interaction partners of human FasL (CD178) by phage display screening."BMC Immunol. 10:53-53(2009) [PubMed] [Europe PMC] [Abstract]
  13. "Initial characterization of the human central proteome."BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
  14. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
  15. "Solution structural studies on human erythrocyte alpha-spectrin tetramerization site."J. Biol. Chem. 278:21837-21844(2003) [PubMed] [Europe PMC] [Abstract]
  16. "Spectrin mutations in hereditary elliptocytosis and hereditary spherocytosis."Hum. Mutat. 8:97-107(1996) [PubMed] [Europe PMC] [Abstract]
  17. "Identification of three novel spectrin alpha I/74 mutations in hereditary elliptocytosis: further support for a triple-stranded folding unit model of the spectrin heterodimer contact site."Blood 84:303-308(1994) [PubMed] [Europe PMC] [Abstract]
  18. "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. 88:743-749(1991) [PubMed] [Europe PMC] [Abstract]
  19. "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 78:1364-1372(1991) [PubMed] [Europe PMC] [Abstract]
  20. "Sp alpha I/78: a mutation of the alpha I spectrin domain in a white kindred with HE and HPP phenotypes."Blood 74:1126-1133(1989) [PubMed] [Europe PMC] [Abstract]
  21. "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. 89:892-898(1992) [PubMed] [Europe PMC] [Abstract]
  22. "Low expression allele alpha LELY of red cell spectrin is associated with mutations in exon 40 (alpha V/41 polymorphism) and intron 45 and with partial skipping of exon 46."J. Clin. Invest. 91:2091-2096(1993) [PubMed] [Europe PMC] [Abstract]
  23. "Elliptopoikilocytosis associated with the alpha 469 His-->Pro mutation in spectrin Barcelona (alpha I/50-46b)."Blood 82:1661-1665(1993) [PubMed] [Europe PMC] [Abstract]
  24. "Spectrin Cagliari: an Ala-->Gly substitution in helix 1 of beta spectrin repeat 17 that severely disrupts the structure and self-association of the erythrocyte spectrin heterodimer."J. Biol. Chem. 268:22656-22662(1993) [PubMed] [Europe PMC] [Abstract]
  25. "Two elliptocytogenic alpha I/74 variants of the spectrin alpha I domain. Spectrin Culoz (GGT-->GTT; alpha I 40 Gly-->Val) and spectrin Lyon (CTT-->TTT; alpha I 43 Leu-->Phe)."J. Clin. Invest. 86:548-554(1990) [PubMed] [Europe PMC] [Abstract]
  26. "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 80:809-815(1992) [PubMed] [Europe PMC] [Abstract]
  27. "Spectrin Tunis (Sp alpha I/78), an elliptocytogenic variant, is due to the CGG-->TGG codon change (Arg-->Trp) at position 35 of the alpha I domain."Blood 74:828-832(1989) [PubMed] [Europe PMC] [Abstract]
  28. "Mild elliptocytosis associated with the alpha 34 Arg-->Trp mutation in spectrin Genova (alpha I/74)."Blood 83:3346-3349(1994) [PubMed] [Europe PMC] [Abstract]
  29. "Spectrin Anastasia (alpha I/78): a new spectrin variant (alpha 45 Arg-->Thr) with moderate elliptocytogenic potential."Br. J. Haematol. 89:933-936(1995) [PubMed] [Europe PMC] [Abstract]