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ATP5MC3 ATP synthase membrane subunit c locus 3 [ Homo sapiens (human) ]

Gene ID: 518, updated on 17-Jun-2019

Summary

Official Symbol
ATP5MC3provided by HGNC
Official Full Name
ATP synthase membrane subunit c locus 3provided by HGNC
Primary source
HGNC:HGNC:843
See related
Ensembl:ENSG00000154518 MIM:602736
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
P3; ATP5G3
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 is one of three genes that encode subunit c of the proton channel. Each of the three genes have distinct mitochondrial import sequences but encode the identical mature protein. Alternatively spliced transcript variants encoding different proteins have been identified. [provided by RefSeq, Jun 2010]
Expression
Ubiquitous expression in heart (RPKM 80.5), duodenum (RPKM 51.7) and 24 other tissues See more
Orthologs

Genomic context

See ATP5MC3 in Genome Data Viewer
Location:
2q31.1
Exon count:
4
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (175176258..175181710, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (176040986..176046490, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein L21 pseudogene 31 Neighboring gene activating transcription factor 2 Neighboring gene ribosomal protein S15a pseudogene 14 Neighboring gene microRNA 933 Neighboring gene uncharacterized LOC105373752

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC125738

Gene Ontology Provided by GOA

Function Evidence Code Pubs
lipid binding IEA
Inferred from Electronic Annotation
more info
 
proton-transporting ATP synthase activity, rotational mechanism IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
ATP biosynthetic process TAS
Traceable Author Statement
more info
 
ATP synthesis coupled proton transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cristae formation TAS
Traceable Author Statement
more info
 
mitochondrial ATP synthesis coupled proton transport TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrial outer membrane TAS
Traceable Author Statement
more info
 
mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
proton-transporting ATP synthase complex, coupling factor F(o) IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
ATP synthase F(0) complex subunit C3, mitochondrial
Names
ATP synthase lipid-binding protein, mitochondrial
ATP synthase proteolipid P3
ATP synthase proton-transporting mitochondrial F(0) complex subunit C3
ATP synthase subunit 9
ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C3 (subunit 9)
ATP synthase, H+ transporting, mitochondrial Fo complex subunit C3 (subunit 9)
ATP synthase, mitochondrial, C subunit-3
ATPase protein 9
ATPase subunit C

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)

  1. NM_001002258.5NP_001002258.1  ATP synthase F(0) complex subunit C3, mitochondrial isoform A precursor

    See identical proteins and their annotated locations for NP_001002258.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) has multiple differences in the presence and absence of intron sequences at the 5' and 3' ends, compared to variant 4. These differences result in a protein (isoform A) with a longer C-terminus, compared to isoform B. Variants 2 and 3 encode the same protein.
    Source sequence(s)
    AC096649, AW025164, U09813
    Consensus CDS
    CCDS2263.1
    UniProtKB/Swiss-Prot
    P48201
    Related
    ENSP00000376324.3, ENST00000392541.3
    Conserved Domains (1) summary
    MTH00222
    Location:68142
    ATP9; ATP synthase F0 subunit 9; Provisional
  2. NM_001190329.2NP_001177258.1  ATP synthase F(0) complex subunit C3, mitochondrial isoform B precursor

    See identical proteins and their annotated locations for NP_001177258.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) represents the longest transcript but encodes a shorter protein (isoform B), compared to isoform A. Isoform B is predicted to lack a complete ATP synthase subunit C domain.
    Source sequence(s)
    AC096649, AW025164, BF210704, BI765737
    Conserved Domains (1) summary
    cl00466
    Location:68105
    ATP-synt_C; ATP synthase subunit C
  3. NM_001689.5NP_001680.1  ATP synthase F(0) complex subunit C3, mitochondrial isoform A precursor

    See identical proteins and their annotated locations for NP_001680.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has an additional intron sequence in its 3' end, compared to variant 4. This difference results in a protein (isoform A) with a longer C-terminus, compared to isoform B. Variants 2 and 3 encode the same protein.
    Source sequence(s)
    AC096649, AW025164, BC106881, BF210704, BI756002
    Consensus CDS
    CCDS2263.1
    UniProtKB/Swiss-Prot
    P48201
    Related
    ENSP00000284727.4, ENST00000284727.8
    Conserved Domains (1) summary
    MTH00222
    Location:68142
    ATP9; ATP synthase F0 subunit 9; Provisional

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    175176258..175181710 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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