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ATP5MC1 ATP synthase membrane subunit c locus 1 [ Homo sapiens (human) ]

Gene ID: 516, updated on 11-Sep-2019

Summary

Official Symbol
ATP5MC1provided by HGNC
Official Full Name
ATP synthase membrane subunit c locus 1provided by HGNC
Primary source
HGNC:HGNC:841
See related
Ensembl:ENSG00000159199 MIM:603192
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
ATP5A; ATP5G; ATP5G1
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 the same protein have been identified. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in heart (RPKM 134.4), colon (RPKM 81.3) and 24 other tissues See more
Orthologs

Genomic context

See ATP5MC1 in Genome Data Viewer
Location:
17q21.32
Exon count:
5
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (48892787..48895871)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (46970148..46973233)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene calcium binding and coiled-coil domain 2 Neighboring gene uncharacterized LOC105371814 Neighboring gene SUMO2 pseudogene 17 Neighboring gene ribosomal protein L37 pseudogene Neighboring gene ubiquitin conjugating enzyme E2 Z

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

Phenotypes

NHGRI GWAS Catalog

Description
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.
NHGRI GWA Catalog

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
lipid binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
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 inner membrane TAS
Traceable Author Statement
more info
 
mitochondrial proton-transporting ATP synthase complex ISS
Inferred from Sequence or Structural Similarity
more info
 
mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
 
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 C1, mitochondrial
Names
ATP synthase lipid-binding protein, mitochondrial
ATP synthase proteolipid P1
ATP synthase proton-transporting mitochondrial F(0) complex subunit C1
ATP synthase subunit 9
ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C1 (subunit 9)
ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9), isoform 1
ATP synthase, H+ transporting, mitochondrial Fo complex subunit C1 (subunit 9)
ATPase protein 9
ATPase subunit 9
ATPase subunit C
mitochondrial ATP synthase, subunit 9, isoform 1
mitochondrial ATP synthase, subunit C, isoform 1

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_001002027.2NP_001002027.1  ATP synthase F(0) complex subunit C1, mitochondrial precursor

    See identical proteins and their annotated locations for NP_001002027.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC091133
    Consensus CDS
    CCDS11539.1
    UniProtKB/Swiss-Prot
    P05496
    UniProtKB/TrEMBL
    Q6FIH7
    Related
    ENSP00000348205.5, ENST00000355938.9
    Conserved Domains (1) summary
    MTH00222
    Location:62136
    ATP9; ATP synthase F0 subunit 9; Provisional
  2. NM_005175.3NP_005166.1  ATP synthase F(0) complex subunit C1, mitochondrial precursor

    See identical proteins and their annotated locations for NP_005166.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC091133
    Consensus CDS
    CCDS11539.1
    UniProtKB/Swiss-Prot
    P05496
    UniProtKB/TrEMBL
    Q6FIH7
    Related
    ENSP00000377033.2, ENST00000393366.7
    Conserved Domains (1) summary
    MTH00222
    Location:62136
    ATP9; ATP synthase F0 subunit 9; Provisional

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    48892787..48895871
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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