ATP5A1 ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle [Homo sapiens] - Gene

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Summary

Official Symbol: ATP5A1provided by HGNC
Official Full Name: ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscleprovided by HGNC
Primary source: HGNC:823
See related: Ensembl:ENSG00000152234; HPRD:01258; MIM:164360; Vega:OTTHUMG00000132637
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: OMR; ORM; ATPM; MOM2; ATP5A; hATP1; ATP5AL2
Summary: This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, using an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the alpha subunit of the catalytic core. Alternatively spliced transcript variants encoding the different isoforms have been identified. Pseudogenes of this gene are located on chromosomes 9, 2, and 16. [provided by RefSeq, Mar 2012]

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Genomic context

Location :: 18q21

Sequence :: Chromosome: 18; NC_000018.9 (43664110..43684199, complement)

See ATP5A1 in Epigenomics, MapViewer

Chromosome 18 - NC_000018.9 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Antibodies to the beta- and gamma-subunits of F(1)-ATPase are further antimitochondrial antibodies in primary biliary cirrhosis.
Title: Relevance of the inner mitochondrial membrane enzyme F1F0-ATPase as an autoantigen in autoimmune liver disorders.
A selective Cys in ATP synthase alpha subunit is targeted by multiple oxidative posttranslational modifications suggesting that this Cys residue may act as a redox sensor modulating ATP synthase function.
Title: Redox regulation of mitochondrial ATP synthase: implications for cardiac resynchronization therapy.
Data suggest that F1-ATPase catalytic site show the correlation between the phosphate binding and the tightening of the alphabeta-interface.
Title: Structural comparison of F1-ATPase: interplay among enzyme structures, catalysis, and rotations.
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
Title: MicroRNA-related genetic variations as predictors for risk of second primary tumor and/or recurrence in patients with early-stage head and neck cancer.
This protein has been found differentially expressed in the anterior cingulate cortex in men patients with schizophrenia.
Title: Sex-specific proteome differences in the anterior cingulate cortex of schizophrenia.
These data show that an linoleic acid-phospholipid induced stimulation in hepatic HDL secretion is related to the expression and function of membrane ATP metabolizing proteins.
Title: An induction in hepatic HDL secretion associated with reduced ATPase expression.
Higher levels of ATP5a1 expression are associated with certain Single Nucleotide Polymorphisms and with TP53 mutation.
Title: The putative tumour modifier gene ATP5A1 is not mutated in human colorectal cancer cell lines but expression levels correlate with TP53 mutations and chromosomal instability.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
This protein has been found differentially expressed in the Wernicke's Area from patients with schizophrenia.
Title: Proteome analysis of schizophrenia patients Wernicke's area reveals an energy metabolism dysregulation.
This protein has been found differentially expressed in the dorsolateral prefrontal cortex from patients with schizophrenia.
Title: Proteomic analysis of dorsolateral prefrontal cortex indicates the involvement of cytoskeleton, oligodendrocyte, energy metabolism and new potential markers in schizophrenia.

Submit: New GeneRIF Correction See all (13)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Products	Interactant	Other Gene	Source	Pubs	Description
P25705	Q12904	AIMP1	HPRD	PubMed
P25705	P36542	ATP5C1	HPRD	PubMed
P25705	Q8N5M1	ATPAF2	HPRD	PubMed
P25705	P04278	SHBG	HPRD	PubMed
P25705	P31946	YWHAB	HPRD	PubMed
P25705	P61981	YWHAG	HPRD	PubMed
P25705	P63104	YWHAZ	HPRD	PubMed
BioGRID:106987	BioGRID:122270	ATPAF1	BioGRID	PubMed	Two-hybrid
BioGRID:106987	BioGRID:107358	CD4	BioGRID	PubMed	Affinity Capture-MS
BioGRID:106987	BioGRID:971788	EBNA-LP	BioGRID	PubMed	Affinity Capture-MS
BioGRID:106987	BioGRID:115331	HDAC5	BioGRID	PubMed	Affinity Capture-MS
BioGRID:106987	BioGRID:109622	ICT1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:106987	BioGRID:110438	MLH1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:106987	BioGRID:204968	Mapk13	BioGRID	PubMed	Affinity Capture-MS
BioGRID:106987	BioGRID:111683	PSMD4	BioGRID	PubMed	Affinity Capture-MS
BioGRID:106987	BioGRID:123598	RNF146	BioGRID	PubMed	Affinity Capture-MS
BioGRID:106987	BioGRID:116982	SIRT3	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western
BioGRID:106987	BioGRID:113188	SUMO1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:106987	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS; Co-purification
BioGRID:106987	BioGRID:113361	YWHAB	BioGRID	PubMed	Affinity Capture-MS
BioGRID:106987	BioGRID:113364	YWHAG	BioGRID	PubMed	Affinity Capture-MS
BioGRID:106987	BioGRID:116168	YWHAQ	BioGRID	PubMed	Affinity Capture-MS
BioGRID:106987	BioGRID:113366	YWHAZ	BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
ADP binding	IEA Inferred from Electronic Annotation more info
ATP binding	ISS Inferred from Sequence or Structural Similarity more info
contributes_to ATPase activity	IDA Inferred from Direct Assay more info	PubMed
MHC class I protein binding	IDA Inferred from Direct Assay more info	PubMed
eukaryotic cell surface binding	IDA Inferred from Direct Assay more info	PubMed
hydrogen ion transporting ATP synthase activity, rotational mechanism	ISS Inferred from Sequence or Structural Similarity more info
hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances	IEA Inferred from Electronic Annotation more info
nucleotide binding	IEA Inferred from Electronic Annotation more info
protein binding	IPI Inferred from Physical Interaction more info	PubMed
proton-transporting ATPase activity, rotational mechanism	IEA Inferred from Electronic Annotation more info
transmembrane transporter activity	IC Inferred by Curator more info	PubMed

Process	Evidence Code	Pubs
ADP biosynthetic process	IEA Inferred from Electronic Annotation more info
ATP biosynthetic process	IC Inferred by Curator more info	PubMed
ATP biosynthetic process	NAS Non-traceable Author Statement more info	PubMed
ATP catabolic process	IDA Inferred from Direct Assay more info	PubMed
ATP hydrolysis coupled proton transport	IEA Inferred from Electronic Annotation more info
embryo development	ISS Inferred from Sequence or Structural Similarity more info
ion transmembrane transport	IEA Inferred from Electronic Annotation more info
lipid metabolic process	ISS Inferred from Sequence or Structural Similarity more info
mitochondrial ATP synthesis coupled proton transport	IC Inferred by Curator more info	PubMed
mitochondrial ATP synthesis coupled proton transport	TAS Traceable Author Statement more info
negative regulation of endothelial cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
proton transport	IEA Inferred from Electronic Annotation more info
respiratory electron transport chain	TAS Traceable Author Statement more info
small molecule metabolic process	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
mitochondrial inner membrane	IDA Inferred from Direct Assay more info	PubMed
mitochondrial matrix	TAS Traceable Author Statement more info
mitochondrial proton-transporting ATP synthase complex	IDA Inferred from Direct Assay more info	PubMed
mitochondrial proton-transporting ATP synthase complex, catalytic core F(1)	IEA Inferred from Electronic Annotation more info
mitochondrion	IC Inferred by Curator more info	PubMed
mitochondrion	NAS Non-traceable Author Statement more info	PubMed
plasma membrane	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with signalosome	IDA Inferred from Direct Assay more info	PubMed

General protein information

Preferred Names: ATP synthase subunit alpha, mitochondrial

Names: ATP synthase subunit alpha, mitochondrial; ATP sythase (F1-ATPase) alpha subunit; ATP synthase alpha chain, mitochondrial; mitochondrial ATP synthetase, oligomycin-resistant; ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 1, cardiac muscle; ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 2, non-cardiac muscle-like 2

NP_001001937.1

EC 3.6.1.14

NP_004037.1

EC 3.6.1.14

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NCBI Reference Sequences (RefSeq)

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_001001935.2 → NP_001001935.1 ATP synthase subunit alpha, mitochondrial isoform c

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR and uses an alternate splice junction at the 3' end of an exon compared to variant 1, that causes a frameshift. The resulting isoform (c) is shorter at the N-terminus compared to isoform a. Variants 4 and 5 both encode the same isoform (c).

Source sequence(s)

AK092735, AW207528, CK002707

UniProtKB/TrEMBL

A8K092

Conserved Domains (4) summary

cd01132
Location:87 – 368
Blast Score: 1375

F1_ATPase_alpha; F1 ATP synthase alpha, central domain. The F-ATPase is found in bacterial plasma membranes, mitochondrial inner membranes and in chloroplast thylakoid membranes. It has also been found in the archaea Methanosarcina barkeri. It uses a proton gradient to ...

pfam00306
Location:377 – 464
Blast Score: 250

ATP-synt_ab_C; ATP synthase alpha/beta chain, C terminal domain

PRK09281
Location:2 – 503
Blast Score: 2532

PRK09281; F0F1 ATP synthase subunit alpha; Validated

cl15275
Location:19 – 85
Blast Score: 183

ATP-synt_ab_N; ATP synthase alpha/beta family, beta-barrel domain
NM_001001937.1 → NP_001001937.1 ATP synthase subunit alpha, mitochondrial isoform a precursor

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (a). Variants 1 and 2 both encode the same isoform (a).

Source sequence(s)

AK129900, AU143001, AW205533, CD244623

Consensus CDS

CCDS11927.1

UniProtKB/Swiss-Prot

P25705

Related

ENSP00000282050, ENST00000282050

Conserved Domains (4) summary

cd01132
Location:137 – 418
Blast Score: 1382

F1_ATPase_alpha; F1 ATP synthase alpha, central domain. The F-ATPase is found in bacterial plasma membranes, mitochondrial inner membranes and in chloroplast thylakoid membranes. It has also been found in the archaea Methanosarcina barkeri. It uses a proton gradient to ...

pfam00306
Location:427 – 514
Blast Score: 252

ATP-synt_ab_C; ATP synthase alpha/beta chain, C terminal domain

PRK09281
Location:49 – 553
Blast Score: 2549

PRK09281; F0F1 ATP synthase subunit alpha; Validated

cl15275
Location:69 – 135
Blast Score: 186

ATP-synt_ab_N; ATP synthase alpha/beta family, beta-barrel domain
NM_001257334.1 → NP_001244263.1 ATP synthase subunit alpha, mitochondrial isoform b precursor

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and uses an alternate in-frame splice junction at the 3' end of an exon compared to variant 1. The resulting isoform (b) lacks an alternate internal segment compared to isoform a.

Source sequence(s)

AK302272, AW207528, CK002707, D14710

Conserved Domains (4) summary

cd01132
Location:128 – 396
Blast Score: 1270

F1_ATPase_alpha; F1 ATP synthase alpha, central domain. The F-ATPase is found in bacterial plasma membranes, mitochondrial inner membranes and in chloroplast thylakoid membranes. It has also been found in the archaea Methanosarcina barkeri. It uses a proton gradient to ...

pfam00306
Location:405 – 492
Blast Score: 252

ATP-synt_ab_C; ATP synthase alpha/beta chain, C terminal domain

PRK09281
Location:49 – 531
Blast Score: 2391

PRK09281; F0F1 ATP synthase subunit alpha; Validated

cl15275
Location:69 – 135
Blast Score: 188

ATP-synt_ab_N; ATP synthase alpha/beta family, beta-barrel domain
NM_001257335.1 → NP_001244264.1 ATP synthase subunit alpha, mitochondrial isoform c

Status: REVIEWED

Description

Transcript Variant: This variant (5) differs in the 5' UTR and uses an alternate splice junction at the 3' end of an exon compared to variant 1, that causes a frameshift. The resulting isoform (c) is shorter at the N-terminus compared to isoform a. Variants 4 and 5 both encode the same isoform (c).

Source sequence(s)

AK289457, AW207528, CK002707

UniProtKB/TrEMBL

A8K092

Conserved Domains (4) summary

cd01132
Location:87 – 368
Blast Score: 1375

F1_ATPase_alpha; F1 ATP synthase alpha, central domain. The F-ATPase is found in bacterial plasma membranes, mitochondrial inner membranes and in chloroplast thylakoid membranes. It has also been found in the archaea Methanosarcina barkeri. It uses a proton gradient to ...

pfam00306
Location:377 – 464
Blast Score: 250

ATP-synt_ab_C; ATP synthase alpha/beta chain, C terminal domain

PRK09281
Location:2 – 503
Blast Score: 2532

PRK09281; F0F1 ATP synthase subunit alpha; Validated

cl15275
Location:19 – 85
Blast Score: 183

ATP-synt_ab_N; ATP synthase alpha/beta family, beta-barrel domain
NM_004046.5 → NP_004037.1 ATP synthase subunit alpha, mitochondrial isoform a precursor

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1 and 2 both encode the same isoform (a).

Source sequence(s)

AW207528, CK002707, D14710

Consensus CDS

CCDS11927.1

UniProtKB/Swiss-Prot

P25705

Related

ENSP00000381736, OTTHUMP00000163475, ENST00000398752, OTTHUMT00000255884

Conserved Domains (4) summary

cd01132
Location:137 – 418
Blast Score: 1382

F1_ATPase_alpha; F1 ATP synthase alpha, central domain. The F-ATPase is found in bacterial plasma membranes, mitochondrial inner membranes and in chloroplast thylakoid membranes. It has also been found in the archaea Methanosarcina barkeri. It uses a proton gradient to ...

pfam00306
Location:427 – 514
Blast Score: 252

ATP-synt_ab_C; ATP synthase alpha/beta chain, C terminal domain

PRK09281
Location:49 – 553
Blast Score: 2549

PRK09281; F0F1 ATP synthase subunit alpha; Validated

cl15275
Location:69 – 135
Blast Score: 186

ATP-synt_ab_N; ATP synthase alpha/beta family, beta-barrel domain

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000018.9 Reference GRCh37.p5 Primary Assembly

Range

43664110..43684199, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000150.1 Alternate HuRef

Range

40521726..40541788, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC012569.18 (46750..66839)	None
genomic	CH471088.1	EAX01471.1
genomic	D28126.1	BAA05672.1
mRNA	AK092735.1	BAG52604.1
mRNA	AK098765.1	None
mRNA	AK129739.1	None
mRNA	AK129804.1	None
mRNA	AK129900.1	None
mRNA	AK289457.1	BAF82146.1
mRNA	AK294804.1	BAG57924.1
mRNA	AK302272.1	BAG63618.1
mRNA	AK310051.1	None
mRNA	AU120644.1	None
mRNA	AU143001.1	None
mRNA	AW205533.1	None
mRNA	AW207528.1	None
mRNA	BC003119.1	AAH03119.1
mRNA	BC007299.1	AAH07299.1
mRNA	BC008028.2	AAH08028.2
mRNA	BC011384.1	AAH11384.1
mRNA	BC016046.1	AAH16046.1
mRNA	BC019310.1	AAH19310.1
mRNA	BC028335.1	None
mRNA	BC035703.1	None
mRNA	BC039135.1	AAH39135.2
mRNA	BC042694.1	None
mRNA	BC064562.1	AAH64562.1
mRNA	BC067385.1	AAH67385.1
mRNA	BT007209.1	AAP35873.1
mRNA	CD244623.1	None
mRNA	CK002707.1	None
mRNA	D14710.1	BAA03531.1
mRNA	X59066.1	CAA41789.1
mRNA	X65460.1	CAA46452.1
other-genetic	BT008250.1	AAP36942.1
other-genetic	DQ890557.2	ABM92174.1
other-genetic	DQ894210.2	ABM85136.1