ATP5C1 ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1 [Homo sapiens] - Gene

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Summary

Official Symbol: ATP5C1provided by HGNC
Official Full Name: ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1provided by HGNC
Primary source: HGNC:833
Locus tag: RP11-401E9.1
See related: Ensembl:ENSG00000165629; HPRD:00156; MIM:108729; Vega:OTTHUMG00000017639
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: ATP5C; ATP5CL1
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 consists of three main subunits (a, b, c). This gene encodes the gamma subunit of the catalytic core. Alternatively spliced transcript variants encoding different isoforms have been identified. This gene also has a pseudogene on chromosome 14. [provided by RefSeq, Jul 2008]

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Genomic context

Location :: 10p15.1

Sequence :: Chromosome: 10; NC_000010.10 (7830093..7849764)

See ATP5C1 in Epigenomics, MapViewer

Chromosome 10 - NC_000010.10 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?

Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
A report on the mechanism of exon skipping regulated by Fox-1, using the hF1gamma gene as a model system.
Title: Tissue-specific splicing regulator Fox-1 induces exon skipping by interfering E complex formation on the downstream intron of human F1gamma gene.
These results demonstrated that the 5'-AGUUCCA-3' immediately downstream from ESE is a muscle-specific exonic splicing silencer (MS-ESS) responsible for exclusion of exon 9 in vivo and in vitro
Title: Muscle-specific exonic splicing silencer for exon exclusion in human ATP synthase gamma-subunit pre-mRNA.

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
P36542	P25705	ATP5A1	HPRD	PubMed
P36542	P06576	ATP5B	HPRD	PubMed
P36542	O43570	CA12	HPRD	PubMed
P36542	P30281	CCND3	HPRD	PubMed
P36542	Q99832	CCT7	HPRD	PubMed
P36542	Q9UQN3	CHMP2B	HPRD	PubMed
P36542	Q9NY33	DPP3	HPRD	PubMed
P36542	P00533	EGFR	HPRD	PubMed
P36542	P60002	ELOF1	HPRD	PubMed
P36542	Q9HCC8	GDPD2	HPRD	PubMed
P36542	P19823	ITIH2	HPRD	PubMed
P36542	Q96RN5	MED15	HPRD	PubMed
P36542	Q00013	MPP1	HPRD	PubMed
P36542	O43676	NDUFB3	HPRD	PubMed
P36542	Q8N5V2	NGEF	HPRD	PubMed
P36542	Q96IZ0	PAWR	HPRD	PubMed
P36542	Q8NG27	PJA1	HPRD	PubMed
P36542	Q9NRX1	PNO1	HPRD	PubMed
P36542	Q14181	POLA2	HPRD	PubMed
P36542	P21246	PTN	HPRD	PubMed
P36542	Q9Y3M9	ZNF337	HPRD	PubMed
BioGRID:106997	BioGRID:107225	CA12	BioGRID	PubMed	Two-hybrid
BioGRID:106997	BioGRID:107336	CCND3	BioGRID	PubMed	Two-hybrid
BioGRID:106997	BioGRID:115825	CCT7	BioGRID	PubMed	Two-hybrid
BioGRID:106997	BioGRID:117462	CHMP2B	BioGRID	PubMed	Two-hybrid
BioGRID:106997	BioGRID:115383	DPP3	BioGRID	PubMed	Two-hybrid
BioGRID:106997	BioGRID:108276	EGFR	BioGRID	PubMed	Affinity Capture-MS; Two-hybrid
BioGRID:106997	BioGRID:128178	EIF2C4	BioGRID	PubMed	Affinity Capture-MS
BioGRID:106997	BioGRID:124061	ELOF1	BioGRID	PubMed	Two-hybrid
BioGRID:106997	BioGRID:120207	GDPD2	BioGRID	PubMed	Two-hybrid
BioGRID:106997	BioGRID:109622	ICT1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:106997	BioGRID:109904	ITIH2	BioGRID	PubMed	Two-hybrid
BioGRID:106997	BioGRID:119623	MED15	BioGRID	PubMed	Two-hybrid
BioGRID:106997	BioGRID:110494	MPP1	BioGRID	PubMed	Two-hybrid
BioGRID:106997	BioGRID:110694	MYC	BioGRID	PubMed	Affinity Capture-MS
BioGRID:106997	BioGRID:110789	NDUFB3	BioGRID	PubMed	Two-hybrid
BioGRID:106997	BioGRID:117324	NGEF	BioGRID	PubMed	Two-hybrid
BioGRID:106997	BioGRID:122109	PJA1	BioGRID	PubMed	Two-hybrid
BioGRID:106997	BioGRID:121232	PNO1	BioGRID	PubMed	Two-hybrid
BioGRID:106997	BioGRID:117176	POLA2	BioGRID	PubMed	Two-hybrid
BioGRID:106997	BioGRID:111731	PTN	BioGRID	PubMed	Two-hybrid
BioGRID:106997	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
contributes_to ATPase activity	IDA Inferred from Direct Assay more info	PubMed
contributes_to ATPase activity	NAS Non-traceable Author Statement more info	PubMed
hydrogen ion transporting ATP synthase activity, rotational mechanism	IEA Inferred from Electronic Annotation more info
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
ATP biosynthetic process	NAS Non-traceable Author Statement more info	PubMed
ATP catabolic process	IDA Inferred from Direct Assay more info	PubMed
ATP catabolic process	NAS Non-traceable Author Statement more info	PubMed
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
oxidative phosphorylation	NAS Non-traceable Author Statement 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
membrane	IEA Inferred from Electronic Annotation more info
mitochondrial inner membrane	ISS Inferred from Sequence or Structural Similarity more info
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)	NAS Non-traceable Author Statement more info	PubMed
mitochondrion	IC Inferred by Curator more info	PubMed
mitochondrion	ISS Inferred from Sequence or Structural Similarity more info
mitochondrion	NAS Non-traceable Author Statement more info	PubMed

General protein information

Preferred Names: ATP synthase subunit gamma, mitochondrial

Names: ATP synthase subunit gamma, mitochondrial; F-ATPase gamma subunit; ATP synthase gamma chain, mitochondrial; mitochondrial ATP synthase, gamma subunit 1

NP_001001973.1

EC 3.6.1.14

NP_005165.1

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_001001973.1 → NP_001001973.1 ATP synthase subunit gamma, mitochondrial isoform L (liver) precursor

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript, and encodes the longer isoform (L), also known as a liver type isoform.

Source sequence(s)

BC026049, BQ893894, D16562

Consensus CDS

CCDS31142.1

UniProtKB/Swiss-Prot

P36542

UniProtKB/TrEMBL

Q6I9V2

UniProtKB/TrEMBL

Q8TAS0

Related

ENSP00000349142, OTTHUMP00000019068, ENST00000356708, OTTHUMT00000046708

Conserved Domains (2) summary

PRK13422
Location:25 – 297
Blast Score: 241

PRK13422; F0F1 ATP synthase subunit gamma; Provisional

cl00365
Location:26 – 297
Blast Score: 878

ATP-synt; ATP synthase
NM_005174.2 → NP_005165.1 ATP synthase subunit gamma, mitochondrial isoform H (heart) precursor

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks a segment in the coding region compared to variant 1. The resulting isoform (H), also known as a heart type isoform, contains a shorter and distinct C-terminus compared to isoform L.

Source sequence(s)

BC026049, BQ893894, D16563

Consensus CDS

CCDS7081.1

UniProtKB/Swiss-Prot

P36542

UniProtKB/TrEMBL

Q8TAS0

Related

ENSP00000338568, OTTHUMP00000019069, ENST00000335698, OTTHUMT00000046709

Conserved Domains (2) summary

PRK13422
Location:25 – 297
Blast Score: 241

PRK13422; F0F1 ATP synthase subunit gamma; Provisional

cl00365
Location:26 – 297
Blast Score: 878

ATP-synt; ATP synthase

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_000010.10 Reference GRCh37.p5 Primary Assembly

Range

7830093..7849764

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000142.1 Alternate HuRef

Range

7748461..7768132

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AL158044.17	CAI12960.1
		CAI12961.1
genomic	AL353754.10	CAH73453.1
		CAH73454.1
genomic	CH471072.2	EAW86372.1
		EAW86373.1
genomic	D16561.1	BAA03994.1
		BAA03995.1
mRNA	AK292896.1	BAF85585.1
mRNA	AK294061.1	BAG57407.1
mRNA	AK296803.1	BAG59376.1
mRNA	BC000470.2	AAH00470.1
mRNA	BC000931.3	AAH00931.1
mRNA	BC010380.1	None
mRNA	BC013394.2	AAH13394.1
mRNA	BC013865.1	None
mRNA	BC016812.1	AAH16812.1
mRNA	BC020824.1	AAH20824.1
mRNA	BC026049.1	AAH26049.1
mRNA	BQ893894.1	None
mRNA	CR457403.1	CAG33684.1
mRNA	D16562.1	BAA03996.1
mRNA	D16563.1	BAA03997.1
other-genetic	HQ448142.1	ADQ32623.1

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
P36542.1	GenPept	UniProtKB/Swiss-Prot:P36542
Q6I9V2	GenPept	UniProtKB/TrEMBL:Q6I9V2
Q8TAS0	GenPept	UniProtKB/TrEMBL:Q8TAS0