ATP5F1 ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1 [Homo sapiens] - Gene

Help top of page

Summary

Official Symbol: ATP5F1provided by HGNC
Official Full Name: ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1provided by HGNC
Primary source: HGNC:840
Locus tag: RP11-552M11.5
See related: Ensembl:ENSG00000116459; HPRD:04467; MIM:603270; Vega:OTTHUMG00000011745
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: PIG47; MGC24431
Summary: This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing 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 seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the b subunit of the proton channel. [provided by RefSeq, Jul 2008]

Help top of page

Genomic context

Location :: 1p13.2

Sequence :: Chromosome: 1; NC_000001.10 (111991743..112004540)

See ATP5F1 in Epigenomics, MapViewer

Chromosome 1 - NC_000001.10 Genomic Context describing neighboring genes

Help top of page

Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Help top of page

Bibliography

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

Down-regulation of mitochondrial ATPase by hypermethylation mechanism in chronic myeloid leukemia is associated with multidrug resistance.
Title: Down-regulation of mitochondrial ATPase by hypermethylation mechanism in chronic myeloid leukemia is associated with multidrug resistance.
Nitration of tyrosine residues 368 and 345 in the beta-subunit elicits FoF1-ATPase activity loss.
Title: Nitration of tyrosine residues 368 and 345 in the beta-subunit elicits FoF1-ATPase activity loss.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.

Submit: New GeneRIF Correction

Help top of page

Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

Help top of page

Products	Interactant	Other Gene	Source	Pubs	Description
BioGRID:107000	BioGRID:117313	DSTYK	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107000	BioGRID:109622	ICT1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107000	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
contributes_to ATPase activity	IDA Inferred from Direct Assay more info	PubMed
hydrogen ion transmembrane transporter activity	IEA Inferred from Electronic Annotation more info
hydrogen ion transporting ATP synthase activity, rotational mechanism	IBA Inferred from Biological aspect of Ancestor more info
protein binding	IPI Inferred from Physical Interaction more info	PubMed
transmembrane transporter activity	IC Inferred by Curator more info	PubMed

Process	Evidence Code	Pubs
ATP catabolic process	IDA Inferred from Direct Assay more info	PubMed
ATP synthesis coupled proton transport	IBA Inferred from Biological aspect of Ancestor more info
ATP synthesis coupled proton transport	IEA Inferred from Electronic Annotation more info
ion transport	IEA Inferred from Electronic Annotation 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
respiratory electron transport chain	TAS Traceable Author Statement more info
small molecule metabolic process	TAS Traceable Author Statement more info

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

General protein information

Preferred Names: ATP synthase subunit b, mitochondrial

Names: ATP synthase subunit b, mitochondrial; ATPase subunit b; H+-ATP synthase subunit b; ATP synthase B chain, mitochondrial; cell proliferation-inducing protein 47; ATP synthase, H+ transporting, mitochondrial F0 complex, subunit B1; ATP synthase, H+ transporting, mitochondrial F0 complex, subunit b, isoform 1

NP_001679.2

EC 3.6.1.14

Help top of page

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_001688.4 → NP_001679.2 ATP synthase subunit b, mitochondrial precursor

Status: REVIEWED

Source sequence(s)

AI754631, AL390195, AW778751, BF237506

Consensus CDS

CCDS836.1

UniProtKB/Swiss-Prot

P24539

UniProtKB/TrEMBL

Q08ET0

Related

ENSP00000358737, OTTHUMP00000013469, ENST00000369722, OTTHUMT00000032455

Conserved Domains (1) summary

pfam05405
Location:83 – 242
Blast Score: 401

Mt_ATP-synt_B; Mitochondrial ATP synthase B chain precursor (ATP-synt_B)

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_000001.10 Reference GRCh37.p5 Primary Assembly

Range

111991743..112004540

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000133.1 Alternate HuRef

Range

109863192..109875988

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Help top of page

Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AL390195.10	CAC36042.1
		CAI15628.1
genomic	CH471122.1	EAW56495.1
		EAW56496.1
mRNA	AI754631.1	None
mRNA	AK223018.1	BAD96738.1
mRNA	AK291077.1	BAF83766.1
mRNA	AK308266.1	None
mRNA	AK313541.1	BAG36318.1
mRNA	AW385236.1	None
mRNA	AW778751.1	None
mRNA	AY871272.1	AAX11428.1
mRNA	BC005366.1	AAH05366.1
mRNA	BC005960.1	AAH05960.1
mRNA	BC016350.1	AAH16350.1
mRNA	BF237506.1	None
mRNA	D28383.1	BAA05749.1
mRNA	X60221.1	CAA42782.1

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
P24539.2	GenPept	UniProtKB/Swiss-Prot:P24539
Q08ET0	GenPept	UniProtKB/TrEMBL:Q08ET0
Q53GB3	GenPept	UniProtKB/TrEMBL:Q53GB3
Q5QNZ2	GenPept	UniProtKB/TrEMBL:Q5QNZ2