ATP5F1A ATP synthase F1 subunit alpha [Homo sapiens (human)] - Gene

Summary

Official Symbol: ATP5F1Aprovided by HGNC
Official Full Name: ATP synthase F1 subunit alphaprovided by HGNC
Primary source: HGNC:HGNC:823
See related: Ensembl:ENSG00000152234 MIM:164360; AllianceGenome:HGNC:823
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; ATP5A1; MC5DN4; ATP5AL2; COXPD22; MC5DN4A; MC5DN4B; HEL-S-123m
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]
Expression: Ubiquitous expression in heart (RPKM 367.9), kidney (RPKM 254.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 18q21.1

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	18	NC_000018.10 (46080248..46104227, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	18	NC_060942.1 (46271209..46295188, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	18	NC_000018.9 (43660214..43684193, complement)

Chromosome 18 - NC_000018.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Proteomic analyses identify HK1 and ATP5A to be overexpressed in distant metastases of lung adenocarcinomas compared to matched primary tumors.
Title: Proteomic analyses identify HK1 and ATP5A to be overexpressed in distant metastases of lung adenocarcinomas compared to matched primary tumors.
Meta-analysis of brain samples of individuals with schizophrenia detects down-regulation of multiple ATP synthase encoding genes in both females and males.
Title: Meta-analysis of brain samples of individuals with schizophrenia detects down-regulation of multiple ATP synthase encoding genes in both females and males.
Growth arrest and DNA damage-inducible alpha regulates muscle repair and fat infiltration through ATP synthase F1 subunit alpha.
Title: Growth arrest and DNA damage-inducible alpha regulates muscle repair and fat infiltration through ATP synthase F1 subunit alpha.
A recurrent de novo ATP5F1A substitution associated with neonatal complex V deficiency.
Title: A recurrent de novo ATP5F1A substitution associated with neonatal complex V deficiency.
ATP5A1 Participates in Transcriptional and Posttranscriptional Regulation of Cancer-Associated Genes by Modulating Their Expression and Alternative Splicing Profiles in HeLa Cells.
Title: ATP5A1 Participates in Transcriptional and Posttranscriptional Regulation of Cancer-Associated Genes by Modulating Their Expression and Alternative Splicing Profiles in HeLa Cells.
Defining the molecular mechanisms of the mitochondrial permeability transition through genetic manipulation of F-ATP synthase.
Title: Defining the molecular mechanisms of the mitochondrial permeability transition through genetic manipulation of F-ATP synthase.
F0F1 ATP synthase regulates extracellular calcium influx in human neutrophils by interacting with Cav2.3 and modulates neutrophil accumulation in the lipopolysaccharide-challenged lung.
Title: F0F1 ATP synthase regulates extracellular calcium influx in human neutrophils by interacting with Ca(v)2.3 and modulates neutrophil accumulation in the lipopolysaccharide-challenged lung.
Poly(GR) bound preferentially to the mitochondrial complex V component ATP5A1 and enhanced its ubiquitination and degradation, consistent with reduced ATP5A1 protein level in both (GR)80 mouse neurons and amyotrophic lateral sclerosis and frontotemporal dementia patient brains
Title: C9ORF72-ALS/FTD-associated poly(GR) binds Atp5a1 and compromises mitochondrial function in vivo.
The study demonstrates a novel role of FANCD2 in governing cellular ATP production via ATP5A, and advances the understanding of how defective Fanconi anemia signaling contributes to aging and cancer at the energy metabolism level.
Title: Involvement of FANCD2 in Energy Metabolism via ATP5α.
17% of prostate carcinomas and 18% of benign prostate tissues showed isolated or combined deficiency of oxidative phosphorylation complexes. ATP5F1A, a complex V protein, was the most frequently affected subunit
Title: Reduced Levels of ATP Synthase Subunit ATP5F1A Correlate with Earlier-Onset Prostate Cancer.

Submit: New GeneRIF Correction See all GeneRIFs (37)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Combined oxidative phosphorylation deficiency 22 MedGen: C4015062 OMIM: 616045 GeneReviews: Not available	Compare labs
Mitochondrial complex V (ATP synthase) deficiency nuclear type 4 MedGen: C3808899 OMIM: 615228 GeneReviews: Not available	Compare labs
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A MedGen: C5830480 OMIM: 620358 GeneReviews: Not available	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle (ATP5A1) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	Tandem affinity purification and mass spectrometry analysis identify ATP synthase alpha subunit 1 of mitochondrial F1 complex (ATP5A1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
Gag-Pol	gag-pol	Tandem affinity purification and mass spectrometry analysis identify ATP synthase alpha subunit 1 of mitochondrial F1 complex (ATP5A1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
Nef	nef	Tandem affinity purification and mass spectrometry analysis identify ATP synthase alpha subunit 1 of mitochondrial F1 complex (ATP5A1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
Pr55(Gag)	gag	Tandem affinity purification and mass spectrometry analysis identify ATP synthase alpha subunit 1 of mitochondrial F1 complex (ATP5A1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
Tat	tat	HIV-1 Tat upregulates the expression of ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle (ATP5A1) in Jurkat cells	PubMed
Vpr	vpr	A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies downregulation of ATP synthase F1 complex, alpha subunit 1 (ATP5A1) expression by HIV-1 Vpr in Vpr transduced macrophages	PubMed
retropepsin	gag-pol	Positional proteomics analysis identifies the cleavage of human ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle (ATP5A1) at amino acid residues 58-59 by the HIV-1 protease	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S2560 (e-PCR)
- UniSTS:37928

STS-AA020987 (e-PCR)
- UniSTS:3377

D8S2279 (e-PCR)
- UniSTS:473907

D16S2555E (e-PCR)
- UniSTS:151643

RH11585 (e-PCR)
- UniSTS:14181

PMC20944P1 (e-PCR)
- UniSTS:271995

RH36905 (e-PCR)
- UniSTS:87932

L18441 (e-PCR)
- UniSTS:71348

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ADP binding	IBA Inferred from Biological aspect of Ancestor more info
enables ATP binding	IBA Inferred from Biological aspect of Ancestor more info
enables ATP binding	ISS Inferred from Sequence or Structural Similarity more info
enables ATP hydrolysis activity	IEA Inferred from Electronic Annotation more info
enables MHC class I protein binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA binding	HDA more info	PubMed
enables angiostatin binding	IPI Inferred from Physical Interaction more info	PubMed
enables protease binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
contributes_to proton-transporting ATP synthase activity, rotational mechanism	IBA Inferred from Biological aspect of Ancestor more info
contributes_to proton-transporting ATP synthase activity, rotational mechanism	IDA Inferred from Direct Assay more info	PubMed
enables proton-transporting ATP synthase activity, rotational mechanism	IMP Inferred from Mutant Phenotype more info	PubMed
enables proton-transporting ATP synthase activity, rotational mechanism	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in ATP biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ATP biosynthetic process	NAS Non-traceable Author Statement more info	PubMed
involved_in cellular response to dexamethasone stimulus	IEA Inferred from Electronic Annotation more info
involved_in cellular response to nitric oxide	IEA Inferred from Electronic Annotation more info
involved_in lipid metabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of endothelial cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of blood vessel endothelial cell migration	IGI Inferred from Genetic Interaction more info	PubMed
involved_in proton motive force-driven ATP synthesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in proton motive force-driven ATP synthesis	NAS Non-traceable Author Statement more info	PubMed
involved_in proton motive force-driven mitochondrial ATP synthesis	IDA Inferred from Direct Assay more info	PubMed
involved_in proton transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in response to ethanol	IEA Inferred from Electronic Annotation more info
involved_in response to muscle activity	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of COP9 signalosome	IDA Inferred from Direct Assay more info	PubMed
located_in cell surface	IEA Inferred from Electronic Annotation more info
located_in extracellular exosome	HDA more info	PubMed
located_in membrane	HDA more info	PubMed
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in membrane raft	IEA Inferred from Electronic Annotation more info
located_in mitochondrial inner membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial inner membrane	NAS Non-traceable Author Statement more info	PubMed
located_in mitochondrial matrix	TAS Traceable Author Statement more info
part_of mitochondrial proton-transporting ATP synthase complex	IDA Inferred from Direct Assay more info	PubMed
part_of mitochondrial proton-transporting ATP synthase complex	NAS Non-traceable Author Statement more info	PubMed
part_of mitochondrial proton-transporting ATP synthase, catalytic core	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	HDA more info	PubMed
located_in mitochondrion	NAS Non-traceable Author Statement more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
part_of proton-transporting ATP synthase complex	IDA Inferred from Direct Assay more info	PubMed
part_of proton-transporting ATP synthase complex, catalytic core F(1)	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: ATP synthase subunit alpha, mitochondrial

Names: ATP synthase alpha chain, mitochondrial; ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle; ATP sythase (F1-ATPase) alpha subunit; epididymis secretory sperm binding protein Li 123m; mitochondrial ATP synthetase, oligomycin-resistant

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.

Genomic

NG_041769.2 RefSeqGene

Range

15938..33986

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001001935.3 → NP_001001935.1 ATP synthase subunit alpha, mitochondrial isoform c

See identical proteins and their annotated locations for NP_001001935.1

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)

AC012569, AK092735, AW207528, CK002707

Consensus CDS

CCDS58620.1

UniProtKB/Swiss-Prot

P25705

Conserved Domains (1) summary

PRK09281
Location:2 → 503

PRK09281; F0F1 ATP synthase subunit alpha; Validated
NM_001001937.2 → NP_001001937.1 ATP synthase subunit alpha, mitochondrial isoform a precursor

See identical proteins and their annotated locations for NP_001001937.1

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)

AC012569, AK129900, AU143001, AW205533

Consensus CDS

CCDS11927.1

UniProtKB/Swiss-Prot

A8K092, B4DY56, K7ENP3, P25705, Q53XX6, Q8IXV2, Q96FB4, Q96HW2, Q96IR6, Q9BTV8

UniProtKB/TrEMBL

V9HW26

Related

ENSP00000282050.2, ENST00000282050.6

Conserved Domains (1) summary

PRK09281
Location:49 → 553

PRK09281; F0F1 ATP synthase subunit alpha; Validated
NM_001257334.2 → 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)

AC012569, AK302272, AW207528, D14710

Consensus CDS

CCDS59315.1

UniProtKB/Swiss-Prot

P25705

Related

ENSP00000467037.1, ENST00000590665.5

Conserved Domains (1) summary

PRK09281
Location:49 → 531

PRK09281; F0F1 ATP synthase subunit alpha; Validated
NM_001257335.2 → NP_001244264.1 ATP synthase subunit alpha, mitochondrial isoform c

See identical proteins and their annotated locations for NP_001244264.1

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)

AC012569, AK289457, AW207528, CK002707

Consensus CDS

CCDS58620.1

UniProtKB/Swiss-Prot

P25705

Related

ENSP00000465477.2, ENST00000593152.6

Conserved Domains (1) summary

PRK09281
Location:2 → 503

PRK09281; F0F1 ATP synthase subunit alpha; Validated
NM_004046.6 → NP_004037.1 ATP synthase subunit alpha, mitochondrial isoform a precursor

See identical proteins and their annotated locations for NP_004037.1

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)

AC012569, AW207528, CK002707, D14710

Consensus CDS

CCDS11927.1

UniProtKB/Swiss-Prot

A8K092, B4DY56, K7ENP3, P25705, Q53XX6, Q8IXV2, Q96FB4, Q96HW2, Q96IR6, Q9BTV8

UniProtKB/TrEMBL

V9HW26

Related

ENSP00000381736.5, ENST00000398752.11

Conserved Domains (1) summary

PRK09281
Location:49 → 553

PRK09281; F0F1 ATP synthase subunit alpha; Validated