ATP5O ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit [Homo sapiens] - Gene

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Summary

Official Symbol: ATP5Oprovided by HGNC
Official Full Name: ATP synthase, H+ transporting, mitochondrial F1 complex, O subunitprovided by HGNC
Primary source: HGNC:850
See related: Ensembl:ENSG00000241837; HPRD:02899; MIM:600828; Vega:OTTHUMG00000065186
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: ATPO; OSCP
Summary: The protein encoded by this gene is a component of the F-type ATPase found in the mitochondrial matrix. F-type ATPases are composed of a catalytic core and a membrane proton channel. The encoded protein appears to be part of the connector linking these two components and may be involved in transmission of conformational changes or proton conductance. [provided by RefSeq, Jul 2008]

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Genomic context

Location :: 21q22.11

Sequence :: Chromosome: 21; NC_000021.8 (35275757..35288158, complement)

See ATP5O in Epigenomics, MapViewer

Chromosome 21 - NC_000021.8 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?

Genetic variation and age are associated with skeletal muscle ATP5O mRNA expression and glucose disposal rate, suggesting that combinations of genetic and non-genetic factors may cause the reduced expression of ATP5O in type 2 diabetes muscle
Title: Genetic variation in ATP5O is associated with skeletal muscle ATP50 mRNA expression and glucose uptake in young twins.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Human mitochondrial F(1)F(0) ATP synthase was isolated with a one-step immunological approach.
Title: A functionally active human F1F0 ATPase can be purified by immunocapture from heart tissue and fibroblast cell lines. Subunit structure and activity studies.

Submit: New GeneRIF Correction

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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
NP_001688.1			BIND	PubMed	ATP50 (OSCP) interacts with Bz-423.
BioGRID:107021	BioGRID:122599	BRCC3	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107021	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
contributes_to ATPase activity	IDA Inferred from Direct Assay more info	PubMed
drug binding	IDA Inferred from Direct Assay more info	PubMed
hydrogen ion transporting ATP synthase activity, rotational mechanism	IEA Inferred from Electronic Annotation more info
transmembrane transporter activity	IC Inferred by Curator more info	PubMed
transporter activity	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
ATP biosynthetic process	NAS Non-traceable Author Statement more info	PubMed
ATP catabolic process	IDA Inferred from Direct Assay more info	PubMed
ion transport	IEA Inferred from Electronic Annotation more info
mitochondrial ATP synthesis coupled proton transport	IMP Inferred from Mutant Phenotype more info	PubMed
mitochondrial ATP synthesis coupled proton transport	TAS Traceable Author Statement more info
proton transport	NAS Non-traceable Author Statement more info	PubMed
respiratory electron transport chain	TAS Traceable Author Statement more info
small molecule metabolic process	TAS Traceable Author Statement more info
transmembrane transport	IC Inferred by Curator more info	PubMed

Component	Evidence Code	Pubs
mitochondrial inner membrane	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	NAS Non-traceable Author Statement more info	PubMed
mitochondrion	IDA Inferred from Direct Assay more info	PubMed
mitochondrion	IMP Inferred from Mutant Phenotype more info	PubMed
plasma membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

Preferred Names: ATP synthase subunit O, mitochondrial

Names: ATP synthase subunit O, mitochondrial; human ATP synthase OSCP subunit; oligomycin sensitivity conferral protein; oligomycin sensitivity conferring protein

NP_001688.1

EC 3.6.3.14

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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_001697.2 → NP_001688.1 ATP synthase subunit O, mitochondrial precursor

Status: REVIEWED

Source sequence(s)

AF088071, AV734214, AW518473, CD174837

Consensus CDS

CCDS13634.1

UniProtKB/Swiss-Prot

P48047

Related

ENSP00000290299, OTTHUMP00000067745, ENST00000290299, OTTHUMT00000139907

Conserved Domains (2) summary

pfam00213
Location:37 – 209
Blast Score: 420

OSCP; ATP synthase delta (OSCP) subunit

cl07975
Location:34 – 209
Blast Score: 326

ATP-synt_B; ATP synthase B/B' CF(0)

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_000021.8 Reference GRCh37.p5 Primary Assembly

Range

35275757..35288158, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000153.1 Alternate HuRef

Range

20753820..20766232, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AP000313.1 (58253..70654)	None
genomic	CH471079.2	EAX09802.1
		EAX09803.1
		EAX09804.1
mRNA	AF088071.1	None
mRNA	AK093795.1	None
mRNA	AK124187.1	None
mRNA	AK222608.1	BAD96328.1
mRNA	AK222962.1	BAD96682.1
mRNA	AK311796.1	BAG34739.1
mRNA	AV734214.1	None
mRNA	AW518473.1	None
mRNA	BC021233.2	AAH21233.1
mRNA	BC022865.1	AAH22865.1
mRNA	BT019836.1	AAV38639.1
mRNA	CD174837.1	None
mRNA	CR456822.1	CAG33103.1
mRNA	X83218.1	CAA58219.1
other-genetic	JF432864.1	ADZ16081.1