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    ATPAF2 ATP synthase mitochondrial F1 complex assembly factor 2 [ Homo sapiens (human) ]

    Gene ID: 91647, updated on 15-Apr-2019

    Summary

    Official Symbol
    ATPAF2provided by HGNC
    Official Full Name
    ATP synthase mitochondrial F1 complex assembly factor 2provided by HGNC
    Primary source
    HGNC:HGNC:18802
    See related
    Ensembl:ENSG00000171953 MIM:608918
    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
    ATP12; ATP12p; LP3663; MC5DN1
    Summary
    This gene encodes an assembly factor for the F(1) component of the mitochondrial ATP synthase. This protein binds specifically to the F1 alpha subunit and is thought to prevent this subunit from forming nonproductive homooligomers during enzyme assembly. This gene is located within the Smith-Magenis syndrome region on chromosome 17. An alternatively spliced transcript variant has been described, but its biological validity has not been determined. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in testis (RPKM 3.4), bone marrow (RPKM 2.9) and 25 other tissues See more
    Orthologs

    Genomic context

    See ATPAF2 in Genome Data Viewer
    Location:
    17p11.2
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (18015059..18039168, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (17921334..17942483, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984989 Neighboring gene dynein regulatory complex subunit 3 Neighboring gene brain protein I3 pseudogene 3 Neighboring gene ribosomal protein S2 pseudogene Neighboring gene GID complex subunit 4 homolog Neighboring gene uncharacterized LOC105371566 Neighboring gene developmentally regulated GTP binding protein 2

    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?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC29736

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    proton-transporting ATP synthase complex assembly NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    mitochondrion IEA
    Inferred from Electronic Annotation
    more info
     
    nuclear speck IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    ATP synthase mitochondrial F1 complex assembly factor 2
    Names
    ATP12 homolog

    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.

    Genomic

    1. NG_012824.1 RefSeqGene

      Range
      5001..26147
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_145691.4NP_663729.1  ATP synthase mitochondrial F1 complex assembly factor 2

      See identical proteins and their annotated locations for NP_663729.1

      Status: REVIEWED

      Source sequence(s)
      AA760883, AC087163, AI857387, BC004114
      Consensus CDS
      CCDS32585.1
      UniProtKB/Swiss-Prot
      Q8N5M1
      Related
      ENSP00000417190.2, ENST00000474627.8
      Conserved Domains (1) summary
      pfam07542
      Location:48166
      ATP12; ATP12 chaperone protein

    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.p12 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p12 Primary Assembly

      Range
      18015059..18039168 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017025303.1XP_016880792.1  ATP synthase mitochondrial F1 complex assembly factor 2 isoform X4

    2. XM_011524065.2XP_011522367.1  ATP synthase mitochondrial F1 complex assembly factor 2 isoform X1

      Conserved Domains (1) summary
      pfam07542
      Location:48168
      ATP12; ATP12 chaperone protein
    3. XM_017025302.1XP_016880791.1  ATP synthase mitochondrial F1 complex assembly factor 2 isoform X3

    4. XM_005256848.4XP_005256905.1  ATP synthase mitochondrial F1 complex assembly factor 2 isoform X2

      Conserved Domains (1) summary
      pfam07542
      Location:48168
      ATP12; ATP12 chaperone protein

    RNA

    1. XR_001752677.2 RNA Sequence

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