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

    Gene ID: 516, updated on 9-Dec-2024

    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; AllianceGenome:HGNC:841
    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
    NEW
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    Try the new Transcript table

    Genomic context

    See ATP5MC1 in Genome Data Viewer
    Location:
    17q21.32
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (48892787..48895871)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (49756527..49759610)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (46970149..46973233)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371814 Neighboring gene SUMO2 pseudogene 17 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12341 Neighboring gene small nucleolar RNA SNORA68 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:46968965-46969944 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12343 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12344 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12345 Neighboring gene ribosomal protein L37 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8662 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8663 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12346 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12347 Neighboring gene ubiquitin conjugating enzyme E2 Z Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12348

    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 Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    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)
    ATP synthase, H+ transporting, mitochondrial Fo complex subunit C1 (subunit 9)
    ATPase protein 9
    ATPase subunit 9
    ATPase subunit C
    dicyclohexylcarbodiimide (DCCD)-reactive proteolipid subunit
    mitochondrial ATP synthase, subunit 9
    mitochondrial ATP synthase, subunit C

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      E7EPU7, 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
      E7EPU7, Q6FIH7
      Related
      ENSP00000377033.2, ENST00000393366.7
      Conserved Domains (1) summary
      MTH00222
      Location:62136
      ATP9; ATP synthase F0 subunit 9; Provisional

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      49756527..49759610
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)