ATP5PF ATP synthase peripheral stalk subunit F6 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ATP5PFprovided by HGNC
Official Full Name: ATP synthase peripheral stalk subunit F6provided by HGNC
Primary source: HGNC:HGNC:847
See related: Ensembl:ENSG00000154723 MIM:603152; AllianceGenome:HGNC:847
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: F6; CF6; ATP5; ATPM; ATP5A; ATP5J
Summary: Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, which comprises the proton channel. The F1 complex consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled in a ratio of 3 alpha, 3 beta, and a single representative of the other 3. The Fo complex has nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the F6 subunit of the Fo complex. The F6 subunit is required for F1 and Fo interactions. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. This gene has 1 or more pseudogenes. [provided by RefSeq, Feb 2016]
Expression: Ubiquitous expression in heart (RPKM 71.0), kidney (RPKM 49.2) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 21q21.3

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	21	NC_000021.9 (25724500..25735653, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	21	NC_060945.1 (24082042..24093216, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	21	NC_000021.8 (27096811..27107964, complement)

Chromosome 21 - NC_000021.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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?

AKT2 and XIST expression was identified as a potential biomarker participating in the effect of ATP5J in colorectal cancer
Title: Identification of candidate genes and long non-coding RNAs associated with the effect of ATP5J in colorectal cancer.
CF6-induced increase in apoptotic cells was blocked by immature or mature IF1, being accompanied by protein kinase B (PKB) phosphorylation. IF1 antagonizes the pro-apoptotic action of CF6 by relief of intracellular acidification and resultant phosphorylation of PKB.
Title: Mitochondrial Inhibitory Factor Protein 1 Functions as an Endogenous Inhibitor for Coupling Factor 6.
Over-expression of the ATP5J gene correlates with cell migration and 5-fluorouracil sensitivity in colorectal cancer.
Title: Over-expression of the ATP5J gene correlates with cell migration and 5-fluorouracil sensitivity in colorectal cancer.
CF6 plays a crucial role in the development of insulin resistance and hypertension
Title: Coupling factor 6-induced activation of ecto-F1F(o) complex induces insulin resistance, mild glucose intolerance and elevated blood pressure in mice.
The phenotypic range of retinal, peripheral and central nervous system disease expression is characterized in a single family with NARP syndrome from the ATPase 6 m.8993T>C mtDNA point mutation.
Title: Heterogeneous patterns of tissue injury in NARP syndrome.
coupling factor 6 induces the development of systolic dysfunction and upregulation of nicotinamide adenine dinucleotide phosphate oxidase in the heart under the high-salt diet
Title: Overexpression of coupling factor 6 causes cardiac dysfunction under high-salt diet in mice.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Coupling factor 6 enhances Src-mediated responsiveness to angiotensin II in resistance arterioles and cells.
Title: Coupling factor 6 enhances Src-mediated responsiveness to angiotensin II in resistance arterioles and cells.
T8993G allele causes severe extrapyramidal dysfunction and Leigh disease but there is no correlation between the degree of enzyme deficiency and the severity of the phenotype.
Title: Clinical and biochemical characteristics in patients with a high mutant load of the mitochondrial T8993G/C mutations.
in vascular endothelial cells both CF6 (coupling factor 6) and Angiotensin II downregulate PECAM-1 (platelet/endothelial cell adhesion molecule) expression via activation of c-Src kinase
Title: Coupling factor 6 downregulates platelet endothelial cell adhesion molecule-1 via c-Src activation and acts as a proatherogenic molecule.

Submit: New GeneRIF Correction See all GeneRIFs (15)

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

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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Protein interactions

Protein	Gene	Interaction	Pubs
Vpu	vpu	HIV-1 Vpu is identified to have a physical interaction with ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F6 (ATP5J) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
contributes_to proton-transporting ATP synthase activity, rotational mechanism	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
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 substantia nigra development	HEP more info	PubMed

Component	Evidence Code	Pubs
located_in mitochondrial inner membrane	NAS Non-traceable Author Statement more info	PubMed
located_in mitochondrial inner membrane	TAS Traceable Author Statement more info
located_in mitochondrion	HDA more info	PubMed
located_in mitochondrion	HTP more info	PubMed
located_in mitochondrion	IC Inferred by Curator more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info
part_of proton-transporting ATP synthase complex	IBA Inferred from Biological aspect of Ancestor more info
part_of proton-transporting ATP synthase complex	IDA Inferred from Direct Assay more info	PubMed
part_of proton-transporting ATP synthase complex, coupling factor F(o)	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: ATP synthase-coupling factor 6, mitochondrial

Names: ATP synthase subunit h; ATP synthase, H+ transporting, mitochondrial F0 complex, subunit F6; ATP synthase, H+ transporting, mitochondrial Fo complex subunit F6; ATPase subunit F6; coupling factor 6; mitochondrial ATP synthase, coupling factor 6; mitochondrial ATP synthase, subunit F6; mitochondrial ATPase coupling factor 6; proliferation-inducing protein 36

NP_001003696.1

EC 3.6.1.14

NP_001003697.1

EC 3.6.1.14

NP_001003701.1

EC 3.6.1.14

NP_001003703.1

EC 3.6.1.14

NP_001307195.1

EC 3.6.1.14

NP_001307196.1

EC 3.6.1.14

NP_001676.2

EC 3.6.1.14

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_001003696.2 → NP_001003696.1 ATP synthase-coupling factor 6, mitochondrial isoform a precursor

See identical proteins and their annotated locations for NP_001003696.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Variants 1, 2, 3, 4, 6 and 7 encode the same isoform (a).

Source sequence(s)

AI085837, BC001178, BC066310, BU174560

Consensus CDS

CCDS13574.1

UniProtKB/Swiss-Prot

J3KQ83, P18859

UniProtKB/TrEMBL

Q6IB54, Q6NZ59

Related

ENSP00000382959.3, ENST00000400087.7

Conserved Domains (1) summary

pfam05511
Location:1 → 96

ATP-synt_F6; Mitochondrial ATP synthase coupling factor 6
NM_001003697.2 → NP_001003697.1 ATP synthase-coupling factor 6, mitochondrial isoform a precursor

See identical proteins and their annotated locations for NP_001003697.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR, compared to variant 1. Variants 1, 2, 3, 4, 6 and 7 encode the same isoform (a).

Source sequence(s)

AI085837, BC001178, BC066310, BG938438

Consensus CDS

CCDS13574.1

UniProtKB/Swiss-Prot

J3KQ83, P18859

UniProtKB/TrEMBL

Q6IB54, Q6NZ59

Related

ENSP00000382962.3, ENST00000400090.7

Conserved Domains (1) summary

pfam05511
Location:1 → 96

ATP-synt_F6; Mitochondrial ATP synthase coupling factor 6
NM_001003701.2 → NP_001003701.1 ATP synthase-coupling factor 6, mitochondrial isoform b precursor

Status: REVIEWED

Description

Transcript Variant: This variant (5) differs in the 5' UTR and the 5' coding region, compared to variant 1. The predicted isoform (b) is longer, and it contains a distinct N-terminus, compared to isoform a. The translation initiation site for this transcript is inferred.

Source sequence(s)

AI085837, BC001178, BC066310, BI093033

Consensus CDS

CCDS46637.1

UniProtKB/TrEMBL

Q6NZ59

Related

ENSP00000389649.2, ENST00000457143.6

Conserved Domains (1) summary

pfam05511
Location:9 → 104

ATP-synt_F6; Mitochondrial ATP synthase coupling factor 6
NM_001003703.2 → NP_001003703.1 ATP synthase-coupling factor 6, mitochondrial isoform a precursor

See identical proteins and their annotated locations for NP_001003703.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2, 3, 4, 6 and 7 encode the same isoform (a).

Source sequence(s)

AI085837, BC001178, BC066310, BQ268216

Consensus CDS

CCDS13574.1

UniProtKB/Swiss-Prot

J3KQ83, P18859

UniProtKB/TrEMBL

Q6IB54, Q6NZ59

Related

ENSP00000284971.3, ENST00000284971.8

Conserved Domains (1) summary

pfam05511
Location:1 → 96

ATP-synt_F6; Mitochondrial ATP synthase coupling factor 6
NM_001320266.2 → NP_001307195.1 ATP synthase-coupling factor 6, mitochondrial isoform a precursor

Status: REVIEWED

Description

Transcript Variant: This variant (6) differs in the 5' UTR, compared to variant 1. Variants 1, 2, 3, 4, 6 and 7 encode the same isoform (a).

Source sequence(s)

AA364611, AI085837, BQ268216, HY146471

Consensus CDS

CCDS13574.1

UniProtKB/Swiss-Prot

J3KQ83, P18859

UniProtKB/TrEMBL

Q6IB54, Q6NZ59

Related

ENSP00000382966.1, ENST00000400094.5

Conserved Domains (1) summary

pfam05511
Location:1 → 96

ATP-synt_F6; Mitochondrial ATP synthase coupling factor 6
NM_001320267.2 → NP_001307196.1 ATP synthase-coupling factor 6, mitochondrial isoform a precursor

Status: REVIEWED

Description

Transcript Variant: This variant (7) differs in the 5' UTR, compared to variant 1. Variants 1, 2, 3, 4, 6 and 7 encode the same isoform (a).

Source sequence(s)

AI085837, BQ268216, CN260182, HY146471

Consensus CDS

CCDS13574.1

UniProtKB/Swiss-Prot

J3KQ83, P18859

UniProtKB/TrEMBL

Q6IB54, Q6NZ59

Conserved Domains (1) summary

pfam05511
Location:1 → 96

ATP-synt_F6; Mitochondrial ATP synthase coupling factor 6
NM_001685.5 → NP_001676.2 ATP synthase-coupling factor 6, mitochondrial isoform a precursor

See identical proteins and their annotated locations for NP_001676.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1, 2, 3, 4, 6 and 7 encode the same isoform (a).

Source sequence(s)

AI085837, BC001178, BC066310

Consensus CDS

CCDS13574.1

UniProtKB/Swiss-Prot

J3KQ83, P18859

UniProtKB/TrEMBL

Q6IB54, Q6NZ59

Related

ENSP00000382965.3, ENST00000400093.3

Conserved Domains (1) summary

pfam05511
Location:1 → 96

ATP-synt_F6; Mitochondrial ATP synthase coupling factor 6