Atp2a1
Gene Detail

Symbol Name ID

Atp2a1 ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 MGI:105058

Synonyms

SERCA1

Feature Type

protein coding gene

Genetic Map

Chromosome 7

69.04 cM
Detailed Genetic Map ± 1 cM


Mapping data(1)

Sequence Map

Chr7:126445858-126463108 bp, - strand From VEGA annotation of GRCm38   17251 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:7635  Vertebrate Homology Class
1 human; 1 mouse; 1 chimpanzee; 1 cattle; 1 dog; 2 zebrafish

Protein SuperFamily: Na(+)/K(+)-transporting ATPase alpha chain
Gene Tree: Atp2a1

Human homologs

Human Homolog		ATP2A1, ATPase, Ca++ transporting, cardiac muscle, fast twitch 1
NCBI Gene ID		487
neXtProt AC		NX_O14983
Human Synonyms		ATP2A, SERCA1
Human Chr (Location)		16p12.1; chr16:28889809-28915830 (+)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human ATP2A1

Alleles and phenotypes

All alleles(4) : Targeted(3) Gene trapped(1)
 

Homozygous mutation of this gene results in perinatal lethality. Mutant neonates display respiratory distress, progressive cyanosis, and die within 30 minutes-2 hours after birth. Lung tissues and the diaphragm muscle show aberrant morphology.

 
Phenotype Images(3)

Gene Ontology (GO) classifications

All GO classifications: (37 annotations)

Process	apoptotic mitochondrial changes, ATP catabolic process, ...
Component	endoplasmic reticulum, endoplasmic reticulum membrane, ...
Function	calcium ion binding, calcium-transporting ATPase activity, ...

This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase

Expression

Literature Summary: (21 records)
Data Summary: Results (101)    Tissues (13)    Images (24)
Theiler Stages: 23, 26, 28

Assay Type	Results
RNA in situ	88
Western blot	13

cDNA source data(78)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(78) cDNA(78)
Microarray probesets(3)

Other database links

VEGA Gene Model	OTTMUSG00000025329 (Evidence)
Ensembl Gene Model	ENSMUSG00000030730 (Evidence)
Entrez Gene	11937 (Evidence)
UniGene	35134
DFCI	TC1576946
DoTS	DT.94292914
NIA Mouse Gene Index	U029244
EC	3.6.3.8
Consensus CDS Project	CCDS40125.1
International Mouse Knockout Project Status	Atp2a1

Sequences

Length	Strain/Species
genomic	OTTMUSG00000025329	VEGA Gene Model | MGI Sequence Detail	17251	C57BL/6J
transcript	OTTMUST00000062344	VEGA | MGI Sequence Detail	3477	Not Applicable
polypeptide	OTTMUSP00000030719	VEGA | MGI Sequence Detail	994	Not Applicable

All sequences(28) RefSeq(2) UniProt(5)

Polymorphisms

RFLP(1) : SNPs(104 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR023306	ATPase, cation-transporting, domain N
InterPro	IPR008250	ATPase, P-type, ATPase-associated domain
InterPro	IPR005782	ATPase, P-type, calcium-transporting
InterPro	IPR006068	ATPase, P-type cation-transporter, C-terminal
InterPro	IPR004014	ATPase, P-type cation-transporter, N-terminal
InterPro	IPR023299	ATPase, P-type, cytoplasmic domain N
InterPro	IPR023300	ATPase, P-type, cytoplasmic transduction domain A
InterPro	IPR000695	ATPase, P-type, H+ transporting proton pump
InterPro	IPR001757	ATPase, P-type, K/Mg/Cd/Cu/Zn/Na/Ca/Na/H-transporter
InterPro	IPR018303	ATPase, P-type phosphorylation site
InterPro	IPR023298	ATPase, P-type, transmembrane domain
InterPro	IPR023214	HAD-like domain
InterPro	IPR005834	Haloacid dehalogenase-like hydrolase
Protein Ontology	PR:000004442	sarcoplasmic/endoplasmic reticulum calcium ATPase 1

References

(Earliest) J:19385 Schleef M, et al., Subtractive cDNA cloning as a tool to analyse secondary effects of a muscle disease. Characterization of affected genes in the myotonic ADR mouse. Neuromuscul Disord. 1994 May;4(3):205-17
(Latest) J:187997 Chamberlain CM, et al., Mouse model of muscleblind-like 1 overexpression: skeletal muscle effects and therapeutic promise. Hum Mol Genet. 2012 Nov 1;21(21):4645-54
All references(57)

Other accession IDs

MGD-MRK-32097