ATP2A1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 [Bos taurus (domestic cattle)] - Gene

Summary

Official Symbol: ATP2A1provided by VGNC
Official Full Name: ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1provided by VGNC
Primary source: VGNC:VGNC:26290
See related: EnsemblRapid:ENSBTAG00070020229
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Bos taurus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Laurasiatheria; Artiodactyla; Ruminantia; Pecora; Bovidae; Bovinae; Bos
Also known as: SERCA1
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 25

Exon count:: 23

Annotation release	Status	Assembly	Chr	Location
RS_2024_12	current	ARS-UCD2.0 (GCF_002263795.3)	25	NC_037352.1 (25929252..25946606, complement)

Chromosome 25 - NC_037352.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:: NC_037352.1 Chromosome 25 Reference ARS-UCD2.0 Primary Assembly

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Dominette sequence data
BioProject: PRJNA294306
Analysis date: Tue Dec 17 08:57:05 2024

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Results demonstrate that a cattle congenital pseudomyotonia is caused by a SERCA1 deficiency, resulting from a defect in the ATP2A1 gene
Title: Fast-twitch skeletal muscle fiber adaptation to SERCA1 deficiency in a Dutch Improved Red and White calf pseudomyotonia case.
Rescue of mutated SERCA1 to sarcoplasmic reticulum membrane can re-establish resting cytosolic Ca(2+) concentration and prevent the appearance of pathological signs of cattle pseudomyotonia
Title: Inhibition of ubiquitin proteasome system rescues the defective sarco(endo)plasmic reticulum Ca2+-ATPase (SERCA1) protein causing Chianina cattle pseudomyotonia.
crystal structure of SERCA, crystallized in the E1 conformation and determined at 2.9A resolution
Title: Crystal structure of sarcoplasmic reticulum Ca2+-ATPase (SERCA) from bovine muscle.
In this study, we provide biochemical evidence for a selective deficiency in SERCA1 protein levels in sarcoplasmic reticulum membranes from Chianina cattle with congenital pseudomyotonia
Title: A defective SERCA1 protein is responsible for congenital pseudomyotonia in Chianina cattle.
study reports the identification of a missense mutation in ATP2A1 in congential pseudomytonia of Chianina cattle; mutation analysis of ATP2A1 exons revealed a perfectly associated missense mutation in exon 6 (c.491G>A) leading to p.Arg164His substitution
Title: Identification of a missense mutation in the bovine ATP2A1 gene in congenital pseudomyotonia of Chianina cattle: an animal model of human Brody disease.
Mutation in ATP2A1 is associated with congenital muscular dystony type 1
Title: Highly effective SNP-based association mapping and management of recessive defects in livestock.

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General gene information

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Gene Ontology Provided by RefSeq

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info	PubMed
enables ATP hydrolysis activity	IEA Inferred from Electronic Annotation more info	PubMed
enables P-type calcium transporter activity	IEA Inferred from Electronic Annotation more info	PubMed

Process	Evidence Code	Pubs
involved_in calcium ion transmembrane transport	IEA Inferred from Electronic Annotation more info	PubMed
involved_in intracellular calcium ion homeostasis	IEA Inferred from Electronic Annotation more info	PubMed

Component	Evidence Code	Pubs
located_in membrane	IEA Inferred from Electronic Annotation more info	PubMed

General protein information

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Preferred Names: sarcoplasmic/endoplasmic reticulum calcium ATPase 1

Names: ATPase, Ca++ transporting, fast twitch 1; SR Ca(2+)-ATPase 1; calcium pump 1; endoplasmic reticulum class 1/2 Ca(2+) ATPase

NP_001069235.1

EC 7.2.2.10

XP_024840649.1

EC 7.2.2.10

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001075767.1 → NP_001069235.1 sarcoplasmic/endoplasmic reticulum calcium ATPase 1

See identical proteins and their annotated locations for NP_001069235.1

Status: PROVISIONAL

Source sequence(s)

BC119938

UniProtKB/Swiss-Prot

Q0VCY0

UniProtKB/TrEMBL

A0AAA9TF47

Related

ENSBTAP00070027409.1, ENSBTAT00070045719.1

Conserved Domains (1) summary

cd02083
Location:5 → 988

P-type_ATPase_SERCA; sarco/endoplasmic reticulum Ca(2+)-ATPase (SERCA), similar to mammalian ATP2A1-3/SERCA1-3

RefSeqs of Annotated Genomes: GCF_002263795.3-RS_2024_12

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference ARS-UCD2.0 Primary Assembly

Genomic

NC_037352.1 Reference ARS-UCD2.0 Primary Assembly

Range

25929252..25946606 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_024984881.2 → XP_024840649.1 sarcoplasmic/endoplasmic reticulum calcium ATPase 1 isoform X1

UniProtKB/TrEMBL

A0AAA9SEQ7, A0AAA9TF47

Related

ENSBTAP00070027419.1, ENSBTAT00070045740.1

Conserved Domains (1) summary

cd02083
Location:5 → 988

P-type_ATPase_SERCA; sarco/endoplasmic reticulum Ca(2+)-ATPase (SERCA), similar to mammalian ATP2A1-3/SERCA1-3