InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: ATP2A1

Summary

InnateDB Gene

IDBG-23611.6

Last Modified

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

Gene Symbol

ATP2A1

Gene Name

ATPase, Ca++ transporting, cardiac muscle, fast twitch 1

Synonyms

ATP2A; SERCA1

Species

Homo sapiens

Ensembl Gene

ENSG00000196296

Encoded Proteins

IDBP-23613

ATPase, Ca++ transporting, cardiac muscle, fast twitch 1

IDBP-239385

ATPase, Ca++ transporting, cardiac muscle, fast twitch 1

IDBP-604253

ATPase, Ca++ transporting, cardiac muscle, fast twitch 1

IDBP-746542

IDBP-750362

IDBP-749496

IDBP-752582

IDBP-751155

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of muscle cells. This enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen, and is involved in muscular excitation and contraction. Mutations in this gene cause some autosomal recessive forms of Brody disease, characterized by increasing impairment of muscular relaxation during exercise. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of muscle cells. This enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen, and is involved in muscular excitation and contraction. Mutations in this gene cause some autosomal recessive forms of Brody disease, characterized by increasing impairment of muscular relaxation during exercise. Alternative splicing results in three transcript variants encoding different isoforms. [provided by RefSeq, Oct 2013]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 16:28878405-28904509

Strand

Forward strand

Band

p11.2

Transcripts

ENST00000357084	ENSP00000349595
ENST00000395503	ENSP00000378879
ENST00000536376	ENSP00000443101
ENST00000564112	ENSP00000457793
ENST00000565042
ENST00000562185	ENSP00000457798
ENST00000564732	ENSP00000457357
ENST00000563975	ENSP00000458035
ENST00000564470	ENSP00000457148

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 9 experimentally validated interaction(s) in this database.

Experimentally validated
Total	9 [view]
Protein-Protein	9 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000166	nucleotide binding
GO:0005388	calcium-transporting ATPase activity
GO:0005509	calcium ion binding
GO:0005515	protein binding
GO:0005524	ATP binding
GO:0019829	cation-transporting ATPase activity
GO:0042803	protein homodimerization activity
GO:0046872	metal ion binding

Biological Process

GO:0006200	ATP catabolic process
GO:0006812	cation transport
GO:0006816	calcium ion transport
GO:0006942	regulation of striated muscle contraction
GO:0007596	blood coagulation
GO:0008152	metabolic process
GO:0008637	apoptotic mitochondrial changes
GO:0031448	positive regulation of fast-twitch skeletal muscle fiber contraction
GO:0032470	positive regulation of endoplasmic reticulum calcium ion concentration
GO:0032471	negative regulation of endoplasmic reticulum calcium ion concentration
GO:0034220	ion transmembrane transport
GO:0034976	response to endoplasmic reticulum stress
GO:0045988	negative regulation of striated muscle contraction
GO:0051561	positive regulation of mitochondrial calcium ion concentration
GO:0051659	maintenance of mitochondrion location
GO:0055085	transmembrane transport
GO:0070059	intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress
GO:0070509	calcium ion import
GO:0070588	calcium ion transmembrane transport
GO:0090076	relaxation of skeletal muscle

Cellular Component

GO:0005789	endoplasmic reticulum membrane
GO:0005793	endoplasmic reticulum-Golgi intermediate compartment
GO:0016020	membrane
GO:0016021	integral component of membrane
GO:0016529	sarcoplasmic reticulum
GO:0031095	platelet dense tubular network membrane
GO:0031673	H zone
GO:0031674	I band
GO:0033017	sarcoplasmic reticulum membrane
GO:0034704	calcium channel complex
GO:0048471	perinuclear region of cytoplasm