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SPTA1

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GENERAL INFORMATION

Gene name

 SPTA1

Gene description

 Spectrin, alpha, erythrocytic 1

Protein class

 Disease related genes
Plasma proteins
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 3
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HUMAN PROTEIN ATLAS INFORMATION

Summary

RNA cell category

 Group enriched (K-562, HEL)

Protein evidence

 Evidence at protein level

Main location

 Not available

DATA RELIABILITY

Reliability score

 Pending cell analysis.

ASSAYS
RNA expression

RNA EXPRESSION OVERVIEW
RNA cell line category: Group enriched (K-562, HEL)
Organ
Origin
Category
Expression
Alphabetical
Cell lines sorted after organ of phenotypic resemblance.

GENE INFORMATION

Gene name

 SPTA1 (HGNC Symbol)

Synonyms

 EL2

Description

 Spectrin, alpha, erythrocytic 1 (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)

 158610706 - 158686698

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000163554 (version 83.38)

Entrez gene

 6708

UniProt

 P02549 (UniProt - Evidence at protein level)

neXtProt

 NX_P02549

Antibodypedia

 SPTA1 antibodies

PROTEIN BROWSER
SPTA1-001
SPTA1-003
SPTA1-201

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
SPTA1-001
ENSP00000357129
ENST00000368147
P02549 [Direct mapping]
Spectrin alpha chain, erythrocytic 1
Show all
Predicted intracellular proteins
Plasma proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000165 [MAPK cascade]
GO:0000186 [activation of MAPKK activity]
GO:0002260 [lymphocyte homeostasis]
GO:0005200 [structural constituent of cytoskeleton]
GO:0005509 [calcium ion binding]
GO:0005515 [protein binding]
GO:0005829 [cytosol]
GO:0006779 [porphyrin-containing compound biosynthetic process]
GO:0007009 [plasma membrane organization]
GO:0007015 [actin filament organization]
GO:0007173 [epidermal growth factor receptor signaling pathway]
GO:0007264 [small GTPase mediated signal transduction]
GO:0007265 [Ras protein signal transduction]
GO:0007411 [axon guidance]
GO:0008091 [spectrin]
GO:0008286 [insulin receptor signaling pathway]
GO:0008360 [regulation of cell shape]
GO:0008543 [fibroblast growth factor receptor signaling pathway]
GO:0014731 [spectrin-associated cytoskeleton]
GO:0015629 [actin cytoskeleton]
GO:0016020 [membrane]
GO:0030036 [actin cytoskeleton organization]
GO:0030097 [hemopoiesis]
GO:0030863 [cortical cytoskeleton]
GO:0031235 [intrinsic component of the cytoplasmic side of the plasma membrane]
GO:0032092 [positive regulation of protein binding]
GO:0032437 [cuticular plate]
GO:0038095 [Fc-epsilon receptor signaling pathway]
GO:0042102 [positive regulation of T cell proliferation]
GO:0045087 [innate immune response]
GO:0046982 [protein heterodimerization activity]
GO:0048010 [vascular endothelial growth factor receptor signaling pathway]
GO:0048011 [neurotrophin TRK receptor signaling pathway]
GO:0051015 [actin filament binding]
GO:0051693 [actin filament capping]
Show all
 2419 aa
280 kDa 		No 0
SPTA1-003
ENSP00000476485
ENST00000467387
V9GY79 [Direct mapping]
Spectrin alpha chain, erythrocytic 1
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
Show all
 124 aa
14.4 kDa 		No 0
SPTA1-201
ENSP00000482595
ENST00000614909
A0A087WZE4 [Direct mapping]
Spectrin alpha chain, erythrocytic 1
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005509 [calcium ion binding]
GO:0005515 [protein binding]
Show all
 2430 aa
281.1 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.