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Spectrin Beta, Erythrocytic (SPTb)

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HSpTB1; Spherocytosis,Clinical Type I

Spectrin Beta, Erythrocytic (SPTb)
CCC F947
HGNC 11274
MGI 98387
PubMed 24124195
RGD 1303243
UniProt P11277
Wiki SPTB
SPTb encodes a member of the spectrin gene family. Spectrin proteins, along with ankyrin, play a role in cell membrane organization and stability. The protein encoded by this locus functions in stability of erythrocyte membranes, and mutations in this gene have been associated with spherocytosis type 2, hereditary elliptocytosis, and neonatal hemolytic anemia. The sequence encodes a 2,137-amino acid, 246-kD protein, consisting of 3 domains: domain I, at the N-terminus, is a 272-amino acid region lacking resemblance to the spectrin repetitive motif but showing striking homology at both nucleotide and amino acid levels to the N-terminal 'actin-binding' domains of alpha-actinin and dystrophin; domain II consists of 17 spectrin repeats; and domain III, 52 amino acid residues at the C terminus, does not adhere to the spectrin repeat motif.

Organism species: Homo sapiens (Human)

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

Organism species: Mus musculus (Mouse)

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

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Spectrin Beta, Erythrocytic (SPTb) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Spectrin Beta, Erythrocytic (SPTb) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Spectrin Beta, Erythrocytic (SPTb) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Spectrin Beta, Erythrocytic (SPTb) CLIA Kit Customized Service Offer
n/a ELISA Kit for Spectrin Beta, Erythrocytic (SPTb) ELISA Kit Customized Service Offer
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  2. "The DNA sequence and analysis of human chromosome 14." Nature 421:601-607(2003) [PubMed] [Europe PMC] [Abstract]
  3. "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. 88:76-81(1991) [PubMed] [Europe PMC] [Abstract]
  4. "Beta spectrin in human skeletal muscle. Tissue-specific differential processing of 3' beta spectrin pre-mRNA generates a beta spectrin isoform with a unique carboxyl terminus."J. Biol. Chem. 265:20449-20454(1990) [PubMed] [Europe PMC] [Abstract]
  5. "A splice site mutation of the beta-spectrin gene causing exon skipping in hereditary elliptocytosis associated with a truncated beta-spectrin chain."J. Biol. Chem. 266:15154-15159(1991) [PubMed] [Europe PMC] [Abstract]
  6. "Identification of an unusual deletion within homologous repeats of human reticulocyte beta-spectrin and probable peptide polymorphism."Gene 91:297-302(1990) [PubMed] [Europe PMC] [Abstract]
  7. "Molecular cloning of the cDNA for human erythrocyte beta-spectrin."Blood 72:328-334(1988) [PubMed] [Europe PMC] [Abstract]
  8. "Isolation and characterization of cDNA clones for human erythrocyte beta-spectrin."Proc. Natl. Acad. Sci. U.S.A. 84:7468-7472(1987) [PubMed] [Europe PMC] [Abstract]
  9. "Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides."Nat. Biotechnol. 21:566-569(2003) [PubMed] [Europe PMC] [Abstract]
  10. "Erythrocyte spectrin is comprised of many homologous triple helical segments."Nature 311:177-180(1984) [PubMed] [Europe PMC] [Abstract]
  11. "In vivo phosphorylation of human erythrocyte spectrin occurs in a sequential manner."Biochemistry 43:4251-4262(2004) [PubMed] [Europe PMC] [Abstract]
  12. "Initial characterization of the human central proteome."BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
  13. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
  14. "Structural insights into the stability and flexibility of unusual erythroid spectrin repeats."Structure 12:645-656(2004) [PubMed] [Europe PMC] [Abstract]
  15. "Spectrin mutations in hereditary elliptocytosis and hereditary spherocytosis."Hum. Mutat. 8:97-107(1996) [PubMed] [Europe PMC] [Abstract]
  16. "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]
  17. "Beta spectrin Kissimmee: a spectrin variant associated with autosomal dominant hereditary spherocytosis and defective binding to protein 4.1."J. Clin. Invest. 92:612-616(1993) [PubMed] [Europe PMC] [Abstract]
  18. "Recurrent fatal hydrops fetalis associated with a nucleotide substitution in the erythrocyte beta-spectrin gene."J. Clin. Invest. 95:1174-1182(1995) [PubMed] [Europe PMC] [Abstract]
  19. "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]
  20. "Point mutation in the beta-spectrin gene associated with alpha I/74 hereditary elliptocytosis. Implications for the mechanism of spectrin dimer self-association."J. Clin. Invest. 86:909-916(1990) [PubMed] [Europe PMC] [Abstract]