Spectrin, alpha 1

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SPTA1
Protein SPTA1 PDB 1owa.png
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases SPTA1, EL2, HPP, HS3, SPH3, SPTA, Spectrin, alpha 1, spectrin alpha, erythrocytic 1
External IDs MGI: 98385 HomoloGene: 74460 GeneCards: SPTA1
RNA expression pattern
PBB GE SPTA1 206937 at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_003126

NM_011465

RefSeq (protein)

NP_003117

NP_035595.2
NP_035595

Location (UCSC) Chr 1: 158.61 – 158.69 Mb Chr 1: 174.17 – 174.25 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Spectrin alpha chain, erythrocyte is a protein that in humans is encoded by the SPTA1 gene.[3]

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.[3]

Interactions[edit]

Spectrin, alpha 1 has been shown to interact with Abl gene.[4]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ a b "Entrez Gene: SPTA1 spectrin, alpha, erythrocytic 1 (elliptocytosis 2)". 
  4. ^ Ziemnicka-Kotula, D; Xu J; Gu H; Potempska A; Kim K S; Jenkins E C; Trenkner E; Kotula L (May 1998). "Identification of a candidate human spectrin Src homology 3 domain-binding protein suggests a general mechanism of association of tyrosine kinases with the spectrin-based membrane skeleton". J. Biol. Chem. UNITED STATES. 273 (22): 13681–92. doi:10.1074/jbc.273.22.13681. ISSN 0021-9258. PMID 9593709. 

Further reading[edit]