InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: SPTA1

Summary

InnateDB Gene

IDBG-103806.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SPTA1

Gene Name

spectrin, alpha, erythrocytic 1 (elliptocytosis 2)

Synonyms

EL2; HPP; HS3; SPH3; SPTA

Species

Homo sapiens

Ensembl Gene

ENSG00000163554

Encoded Proteins

IDBP-103810

spectrin, alpha, erythrocytic 1 (elliptocytosis 2)

IDBP-811748

spectrin, alpha, erythrocytic 1

IDBP-811750

spectrin, alpha, erythrocytic 1

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

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]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 1:158610706-158686698

Strand

Reverse strand

Band

q23.1

Transcripts

ENST00000368147	ENSP00000357129
ENST00000485680
ENST00000481212
ENST00000498708
ENST00000492934
ENST00000484520
ENST00000461624
ENST00000465741
ENST00000467387	ENSP00000476485
ENST00000614909	ENSP00000482595

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 30 experimentally validated interaction(s) in this database.
They are also associated with 4 interaction(s) predicted by orthology.

Experimentally validated
Total	30 [view]
Protein-Protein	30 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	4 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005200	structural constituent of cytoskeleton
GO:0005509	calcium ion binding
GO:0005515	protein binding
GO:0046982	protein heterodimerization activity
GO:0051015	actin filament binding

Biological Process

GO:0002260	lymphocyte homeostasis
GO:0006779	porphyrin-containing compound biosynthetic process
GO:0007009	plasma membrane organization
GO:0007015	actin filament organization
GO:0007411	axon guidance
GO:0008360	regulation of cell shape
GO:0030036	actin cytoskeleton organization
GO:0030097	hemopoiesis
GO:0032092	positive regulation of protein binding
GO:0042102	positive regulation of T cell proliferation
GO:0051693	actin filament capping

Cellular Component

GO:0005829	cytosol
GO:0008091	spectrin
GO:0014731	spectrin-associated cytoskeleton
GO:0015629	actin cytoskeleton
GO:0016020	membrane
GO:0030863	cortical cytoskeleton
GO:0031235	intrinsic component of the cytoplasmic side of the plasma membrane
GO:0032437	cuticular plate

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000026532

View Gene Order

ENSBTAG00000000888

Not yet available

Pathways

NETPATH

REACTOME

REACT_22266

Interaction between L1 and Ankyrins pathway

REACT_22205

L1CAM interactions pathway

REACT_18334

NCAM signaling for neurite out-growth pathway

REACT_111045

Developmental Biology pathway

REACT_18266

Axon guidance pathway

KEGG

INOH

PID NCI

Cross-References

SwissProt

TrEMBL

UniProt Splice Variant

Entrez Gene

UniGene

Hs.119825

RefSeq

NM_003126

HUGO

OMIM

CCDS

CCDS41423

HPRD

01685

IMGT

EMBL

GenPept

RNA Seq Atlas