Spectrin, alpha 1

Spectrin alpha chain, erythrocyte is a protein that in humans is encoded by the SPTA1 gene.^[5]

PDBOrtholog search: PDBe RCSB

AliasesSPTA1, EL2, HPP, HS3, SPH3, SPTA, Spectrin, alpha 1, spectrin alpha, erythrocytic 1

External IDsOMIM: 182860; MGI: 98385; HomoloGene: 74460; GeneCards: SPTA1; OMA:SPTA1 - orthologs

Chr.Chromosome 1 (human)^[1]

Quick facts SPTA1, Available structures ...

SPTA1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1OWA, 3LBX
Identifiers
Aliases	SPTA1, EL2, HPP, HS3, SPH3, SPTA, Spectrin, alpha 1, spectrin alpha, erythrocytic 1
External IDs	OMIM: 182860; MGI: 98385; HomoloGene: 74460; GeneCards: SPTA1; OMA:SPTA1 - orthologs
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1q23.1 Start 158,610,704 bp[1] End 158,686,715 bp[1]
Gene location (Mouse) Chr. Chromosome 1 (mouse)[2] Band 1 H3|1 80.97 cM Start 174,000,342 bp[2] End 174,076,016 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in trabecular bone bone marrow bone marrow cell testicle gonad monocyte blood right testis left testis spleen Top expressed in fetal liver hematopoietic progenitor cell blood tibiofemoral joint human fetus right lobe of liver body of femur epithelium of lens spleen right ventricle bone marrow More reference expression data BioGPS More reference expression data
Gene ontology Molecular function calcium ion binding metal ion binding actin filament binding structural constituent of cytoskeleton protein binding actin binding protein heterodimerization activity Cellular component cytoplasm cytosol intrinsic component of the cytoplasmic side of the plasma membrane cell cortex actin cytoskeleton cytoskeleton spectrin spectrin-associated cytoskeleton cytoplasmic side of plasma membrane membrane axon cortical cytoskeleton cuticular plate Biological process actin filament organization MAPK cascade axon guidance endoplasmic reticulum to Golgi vesicle-mediated transport actin filament capping regulation of cell shape lymphocyte homeostasis porphyrin-containing compound biosynthetic process plasma membrane organization actin cytoskeleton organization hemopoiesis positive regulation of protein binding positive regulation of T cell proliferation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 6708 20739 Ensembl ENSG00000163554 ENSMUSG00000026532 UniProt P02549 P08032 RefSeq (mRNA) NM_003126 NM_011465 RefSeq (protein) NP_003117 NP_035595 Location (UCSC) Chr 1: 158.61 – 158.69 Mb Chr 1: 174 – 174.08 Mb PubMed search [3] [4]
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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.^[5]