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    ATP5S ATP synthase, H+ transporting, mitochondrial Fo complex subunit s (factor B) [ Homo sapiens (human) ]

    Gene ID: 27109, updated on 9-Apr-2018
    Official Symbol
    ATP5Sprovided by HGNC
    Official Full Name
    ATP synthase, H+ transporting, mitochondrial Fo complex subunit s (factor B)provided by HGNC
    Primary source
    HGNC:HGNC:18799
    See related
    Ensembl:ENSG00000125375 Vega:OTTHUMG00000170866
    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
    FB; ATPW; HSU79253
    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. This gene encodes the subunit s, also known as factor B, of the proton channel. This subunit is necessary for the energy transduction activity of the ATP synthase complexes. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in thyroid (RPKM 3.9), kidney (RPKM 3.3) and 25 other tissues See more
    Orthologs
    Location:
    14q21.3
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 14 NC_000014.9 (50311521..50326715)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (50778256..50802359)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene SOS Ras/Rho guanine nucleotide exchange factor 2 Neighboring gene L-2-hydroxyglutarate dehydrogenase Neighboring gene microRNA 4504 Neighboring gene cyclin dependent kinase like 1 Neighboring gene mitogen-activated protein kinase kinase kinase kinase 5 Neighboring gene zinc finger protein 678 pseudogene

    • 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 Jun 15 11:32:44 2016

    Related articles in PubMed

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Genome-wide association study of periodontal health measured by probing depth in adults ages 18-49 years.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    proton transmembrane transporter activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    ATP biosynthetic process TAS
    Traceable Author Statement
    more info
     
    cristae formation TAS
    Traceable Author Statement
    more info
     
    mitochondrial ATP synthesis coupled proton transport TAS
    Traceable Author Statement
    more info
     
    proton transmembrane transport NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
     
    proton-transporting ATP synthase complex, coupling factor F(o) IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    ATP synthase subunit s, mitochondrial
    Names
    ATP synthase coupling factor B, mitochondrial
    ATP synthase coupling factor B-like 1
    ATP synthase, H+ transporting, mitochondrial F0 complex, subunit s (factor B)
    ATP synthase-coupling factor B
    mitochondrial ATP synthase regulatory component factor B
    NP_001003803.1
    NP_001003805.1
    NP_056499.2
    XP_005267594.1
    XP_011534951.1
    XP_011534952.1
    XP_011534953.1
    XP_011534954.1
    XP_011534955.1
    XP_011534956.1
    XP_011534957.1
    XP_011534958.1
    XP_011534959.1
    XP_016876709.1
    XP_024305308.1

    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_001003803.2NP_001003803.1  ATP synthase subunit s, mitochondrial isoform a precursor

      See identical proteins and their annotated locations for NP_001003803.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest protein-coding transcript, and encodes the longest isoform (a).
      Source sequence(s)
      AK290008, BC011549, CD517203, DA033027
      Consensus CDS
      CCDS32075.1
      UniProtKB/Swiss-Prot
      Q99766
      Related
      ENSP00000308334.7, OTTHUMP00000244614, ENST00000311459.11, OTTHUMT00000410761
      Conserved Domains (1) summary
      sd00034
      Location:126150
      LRR_AMN1; leucine-rich repeat [structural motif]
    2. NM_001003805.2NP_001003805.1  ATP synthase subunit s, mitochondrial isoform b precursor

      See identical proteins and their annotated locations for NP_001003805.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks a segment in the coding region which leads to a frameshift, compared to variant 1. The resulting isoform (b) contains a shorter and distinct C-terminus compared to isoform a.
      Source sequence(s)
      BC011549, BU189283, DA033027
      Consensus CDS
      CCDS32076.1
      UniProtKB/Swiss-Prot
      Q99766
      Related
      ENSP00000245448.6, OTTHUMP00000244611, ENST00000245448.10, OTTHUMT00000410756
    3. NM_015684.3NP_056499.2  ATP synthase subunit s, mitochondrial isoform c precursor

      See identical proteins and their annotated locations for NP_056499.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 3' UTR and the 3' coding region, compared to variant 1. The resulting isoform (c) contains a distinct C-terminus, compared to isoform a.
      Source sequence(s)
      AF052186, BI755956, BU189283, DA033027
      Consensus CDS
      CCDS45102.1
      UniProtKB/Swiss-Prot
      Q99766
      Related
      ENSP00000389246.2, OTTHUMP00000244612, ENST00000426751.6, OTTHUMT00000410759

    RNA

    1. NR_033761.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) includes an alternate exon in the coding region, compared to variant 1, which results in a frameshift and early stop codon. The transcript is sufficiently abundant to represent as a RefSeq record; however, the predicted protein is not represented because the product is significantly truncated and the transcript is a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      BC011549, BU189283, DA033027

    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.p12 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p12 Primary Assembly

      Range
      50311521..50326715
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017021220.2XP_016876709.1  ATP synthase subunit s, mitochondrial isoform X5

      Conserved Domains (1) summary
      sd00034
      Location:111135
      LRR_AMN1; leucine-rich repeat [structural motif]
    2. XM_011536653.3XP_011534955.1  ATP synthase subunit s, mitochondrial isoform X5

      See identical proteins and their annotated locations for XP_011534955.1

      Conserved Domains (1) summary
      sd00034
      Location:111135
      LRR_AMN1; leucine-rich repeat [structural motif]
    3. XM_024449540.1XP_024305308.1  ATP synthase subunit s, mitochondrial isoform X6

    4. XM_011536656.3XP_011534958.1  ATP synthase subunit s, mitochondrial isoform X8

      See identical proteins and their annotated locations for XP_011534958.1

      UniProtKB/Swiss-Prot
      Q99766
    5. XM_011536655.3XP_011534957.1  ATP synthase subunit s, mitochondrial isoform X7

      See identical proteins and their annotated locations for XP_011534957.1

    6. XM_011536654.3XP_011534956.1  ATP synthase subunit s, mitochondrial isoform X7

      See identical proteins and their annotated locations for XP_011534956.1

    7. XM_011536650.3XP_011534952.1  ATP synthase subunit s, mitochondrial isoform X2

    8. XM_011536651.3XP_011534953.1  ATP synthase subunit s, mitochondrial isoform X3

    9. XM_011536649.2XP_011534951.1  ATP synthase subunit s, mitochondrial isoform X1

      Conserved Domains (1) summary
      sd00034
      Location:155179
      LRR_AMN1; leucine-rich repeat [structural motif]
    10. XM_011536652.1XP_011534954.1  ATP synthase subunit s, mitochondrial isoform X4

      Conserved Domains (1) summary
      sd00034
      Location:116140
      LRR_AMN1; leucine-rich repeat [structural motif]
    11. XM_011536657.3XP_011534959.1  ATP synthase subunit s, mitochondrial isoform X9

    12. XM_005267537.4XP_005267594.1  ATP synthase subunit s, mitochondrial isoform X5

      See identical proteins and their annotated locations for XP_005267594.1

      Related
      ENSP00000494641.1, ENST00000554951.5
      Conserved Domains (1) summary
      sd00034
      Location:111135
      LRR_AMN1; leucine-rich repeat [structural motif]

    RNA

    1. XR_943415.3 RNA Sequence

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