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    ATP5PB ATP synthase peripheral stalk-membrane subunit b [ Homo sapiens (human) ]

    Gene ID: 515, updated on 7-Apr-2024

    Summary

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    Official Symbol
    ATP5PBprovided by HGNC
    Official Full Name
    ATP synthase peripheral stalk-membrane subunit bprovided by HGNC
    Primary source
    HGNC:HGNC:840
    See related
    Ensembl:ENSG00000116459 MIM:603270; AllianceGenome:HGNC:840
    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
    PIG47; ATP5F1
    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 encodes the b subunit of the proton channel. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in heart (RPKM 107.3), colon (RPKM 76.0) and 25 other tissues See more
    Orthologs
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    Genomic context

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    Location:
    1p13.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (111449464..111462773)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (111464148..111477456)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (111992086..112005395)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene UBE2F pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1495 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1496 Neighboring gene WD repeat domain 77 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1497 Neighboring gene chromosome 1 open reading frame 162 Neighboring gene transmembrane and immunoglobulin domain containing 3 Neighboring gene RNA, U6 small nuclear 792, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Down-regulation of mitochondrial ATPase by hypermethylation mechanism in chronic myeloid leukemia is associated with multidrug resistance. Li RJ, et al. Ann Oncol, 2010 Jul. PMID 20038517
    2. Nitration of tyrosine residues 368 and 345 in the beta-subunit elicits FoF1-ATPase activity loss. Fujisawa Y, et al. Biochem J, 2009 Sep 25. PMID 19650768
    3. Molecular cloning of cDNA for the import precursor of human subunit B of H(+)-ATP synthase in mitochondria. Higuti T, et al. Biochem Biophys Res Commun, 1991 Aug 15. PMID 1831354
    4. The expression of subunit c correlates with and thus may limit the biosynthesis of the mitochondrial F0F1-ATPase in brown adipose tissue. Houstĕk J, et al. J Biol Chem, 1995 Mar 31. PMID 7706317
    5. Two genes encoding the bovine mitochondrial ATP synthase proteolipid specify precursors with different import sequences and are expressed in a tissue-specific manner. Gay NJ, et al. EMBO J, 1985 Dec 16. PMID 2868890, Free PMC Article

    See all (110) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Down-regulation of mitochondrial ATPase by hypermethylation mechanism in chronic myeloid leukemia is associated with multidrug resistance.
      Title: Down-regulation of mitochondrial ATPase by hypermethylation mechanism in chronic myeloid leukemia is associated with multidrug resistance.
    2. Nitration of tyrosine residues 368 and 345 in the beta-subunit elicits FoF1-ATPase activity loss.
      Title: Nitration of tyrosine residues 368 and 345 in the beta-subunit elicits FoF1-ATPase activity loss.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Vpr vpr A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies downregulation of ATP synthase, mitochondrial Fo complex, subunit B1 (ATP5F1) expression by HIV-1 Vpr in Vpr transduced macrophages PubMed
    Vpu vpu HIV-1 Vpu is identified to have a physical interaction with ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1 (ATP5F1) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC24431

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    contributes_to proton-transporting ATP synthase activity, rotational mechanism IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    contributes_to proton-transporting ATP synthase activity, rotational mechanism IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in proton motive force-driven ATP synthesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in proton motive force-driven ATP synthesis NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in proton motive force-driven mitochondrial ATP synthesis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in proton transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in substantia nigra development HEP PubMed 
    Component Evidence Code Pubs
    located_in membrane HDA PubMed 
    located_in mitochondrial inner membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrial matrix NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    part_of mitochondrial proton-transporting ATP synthase complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of mitochondrial proton-transporting ATP synthase complex NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    part_of mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion HDA PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleus HDA PubMed 

    General protein information

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    Preferred Names
    ATP synthase F(0) complex subunit B1, mitochondrial
    Names
    ATP synthase B chain, mitochondrial
    ATP synthase proton-transporting mitochondrial F(0) complex subunit B1
    ATP synthase subunit b, mitochondrial
    ATP synthase, H+ transporting, mitochondrial F0 complex, subunit B1
    ATP synthase, H+ transporting, mitochondrial F0 complex, subunit b
    ATP synthase, H+ transporting, mitochondrial Fo complex subunit B1
    ATPase subunit b
    H+-ATP synthase subunit b
    cell proliferation-inducing protein 47

    NCBI Reference Sequences (RefSeq)

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    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_001688.5 → NP_001679.2  ATP synthase F(0) complex subunit B1, mitochondrial precursor

      See identical proteins and their annotated locations for NP_001679.2

      Status: REVIEWED

      Source sequence(s)
      AI754631, AL390195, AW778751, BF237506
      Consensus CDS
      CCDS836.1
      UniProtKB/Swiss-Prot
      P24539, Q9BQ68, Q9BRU8
      UniProtKB/TrEMBL
      A0A024R0E1, A8K4W2, Q08ET0, Q53GB3
      Related
      ENSP00000358737.3, ENST00000369722.8
      Conserved Domains (1) summary
      pfam05405
      Location:83 → 244
      Mt_ATP-synt_B; Mitochondrial ATP synthase B chain precursor (ATP-synt_B)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      111449464..111462773
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      111464148..111477456
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001002014.1: Suppressed sequence

      Description
      NM_001002014.1: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.

    2. NM_001002015.1: Suppressed sequence

      Description
      NM_001002015.1: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P24539.2 GenPept UniProtKB/Swiss-Prot:P24539

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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