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


Clone ID RefSeq Accession Definition Vector Stock Status *Turnaround time Price Order
OHu28487 NM_003126 Homo sapiens spectrin, alpha, erythrocytic 1 (SPTA1), mRNA. pcDNA3.1+-DYK On-demand 35 $3749.00
OHu28487C NM_003126 Homo sapiens spectrin, alpha, erythrocytic 1 (SPTA1), mRNA. Customized vector On-demand 35 $3749.00

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Gene Symbol SPTA1
Entrez Gene ID 6708
Full Name spectrin, alpha, erythrocytic 1
Synonyms EL2, HPP, HS3, SPH3, SPTA
General protein information
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 ORF Sequence $3500.00
Reactome
REACT_18266Axon guidance
REACT_18334NCAM signaling for neurite out-growth
REACT_22205L1CAM interactions
REACT_22266Interaction between L1 and Ankyrins
REACT_111045Developmental Biology
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)Spta1NP_035595.2
Rattus norvegicus (Norway rat)Spta1NP_001011908.2
Process
IDNameEvidence
GO:0002260lymphocyte homeostasisIEA
GO:0006779porphyrin-containing compound biosynthetic processIEA
GO:0007009plasma membrane organizationIEA
GO:0007015actin filament organizationTAS
GO:0007411axon guidanceTAS
GO:0008360regulation of cell shapeIEA
GO:0030097hemopoiesisIEA
GO:0032092positive regulation of protein bindingIEA
GO:0042102positive regulation of T cell proliferationIEA
GO:0051693actin filament cappingIEA
Component
IDNameEvidence
GO:0005829cytosolTAS
GO:0008091spectrinTAS
GO:0014731spectrin-associated cytoskeletonIDA
GO:0015629actin cytoskeletonTAS
GO:0031235intrinsic component of the cytoplasmic side of the plasma membraneTAS
GO:0032437cuticular plateIEA
Function
IDNameEvidence
GO:0005200structural constituent of cytoskeletonTAS
GO:0005509calcium ion bindingIEA
GO:0005515protein bindingIPI
GO:0046982protein heterodimerization activityIEA
GO:0051015actin filament bindingTAS
GeneCards SPTA1
UniProt P02549
Vega OTTHUMG00000019636
MIM 182860
Ensembl ENSG00000163554
HGNC 11272
HPRD 01685

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

Interactant

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