SPTA1

GENE INFORMATION

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Gene name

SPTA1 (HGNC Symbol)

Synonyms

EL2

Description

Spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (HGNC Symbol)

Entrez gene 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]

Chromosome

1

Cytoband

q23.1

Chromosome location (bp)

158580496 - 158656488

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000163554 (version 75.37)

Entrez gene

6708

UniProt

P02549 (UniProt - Evidence at protein level)

neXtProt

NX_P02549

Antibodypedia

SPTA1 antibodies
 

PROTEIN VIEW

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SPTA1-001
 
SPTA1-003
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

SPTA1-001 ENSP00000357129
ENST00000368147
P02549
Show all »
Show » Show » 2419 280 No 0
SPTA1-003 ENSP00000476485
ENST00000467387
Show » Show » 124 14.4 No 0