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SPTA1 spectrin, alpha, erythrocytic 1 (elliptocytosis 2) [Homo sapiens (human)]


RefSeq Accession Definition Services Price Order
NM_003126 Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA. ORF Sequence $3267.00
Peptide Services
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Gene Symbol SPTA1
Entrez Gene ID 6708
Full Name spectrin, alpha, erythrocytic 1 (elliptocytosis 2)
Synonyms EL2, HPP, HS3, SPH3, SPTA
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

1

1q21

Summary 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. [provided by RefSeq, Jul 2008].
Disorder

MIM: 182860

Elliptocytosis-2, 130600 (3); Pyropoikilocytosis, 266140 (3);

mRNA Protein Product Sequence Price Select
NM_003126, 115298658 NP_003117, 115298659 spectrin alpha chain, erythrocytic 1 Full Length $0.00
ORF Sequence $3267.00
Reactome
REACT_22205L1CAM interactions
REACT_22266Interaction between L1 and Ankyrins
REACT_111045Developmental Biology
REACT_18266Axon guidance
REACT_18334NCAM signaling for neurite out-growth
Homo sapiens (human)SPTA1NP_003117.2
Pan troglodytes (chimpanzee)SPTA1XP_001169940.1
Macaca mulatta (Rhesus monkey)SPTA1XP_001117115.1
Canis lupus familiaris (dog)SPTA1XP_545733.3
Bos taurus (cattle)SPTA1NP_001193517.1
Mus musculus (house mouse)Spna1NP_035595.2
Rattus norvegicus (Norway rat)Spta1NP_001011908.2
GeneCards SPTA1
PDB 3LBX, 1OWA
UniProt P02549
MIM 182860
Ensembl ENSG00000163554
HGNC 11272
HPRD 01685

GeneRIFs: Gene References Into Functions What's a GeneRIF?

General protein information

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