Display Settings:

Format

Send to:

Choose Destination
    • Showing Current items.

    ATPAF1 ATP synthase mitochondrial F1 complex assembly factor 1 [ Homo sapiens (human) ]

    Gene ID: 64756, updated on 26-Jun-2015
    Official Symbol
    ATPAF1provided by HGNC
    Official Full Name
    ATP synthase mitochondrial F1 complex assembly factor 1provided by HGNC
    Primary source
    HGNC:HGNC:18803
    See related
    Ensembl:ENSG00000123472; HPRD:12332; MIM:608917; Vega:OTTHUMG00000007988
    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
    ATP11; ATP11p
    Summary
    This gene encodes an assembly factor for the F(1) component of the mitochondrial ATP synthase. This protein binds specifically to the F1 beta subunit and is thought to prevent this subunit from forming nonproductive homooligomers during enzyme assembly. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Aug 2011]
    Orthologs
    See ATPAF1 in Epigenomics, MapViewer
    Location:
    1p33
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 1 NC_000001.11 (46635039..46668427, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (47100711..47134099, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene MOB kinase activator 3C Neighboring gene uncharacterized LOC105378697 Neighboring gene EFCAB14 antisense RNA 1 Neighboring gene testis expressed 38 Neighboring gene EF-hand calcium binding domain 14 Neighboring gene uncharacterized LOC105378698

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ22351, FLJ55378, FLJ60653, MGC88060

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    protein complex assembly IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    mitochondrion IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    ATP synthase mitochondrial F1 complex assembly factor 1
    Names
    ATP synthase mitochondrial F1 complex assembly factor 1
    homolog of yeast ATP11

    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_001042546.2NP_001036011.2  ATP synthase mitochondrial F1 complex assembly factor 1 isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks two alternate in-frame exons in the 3' coding region, compared to variant 1, resulting in a shorter isoform (2), compared to isoform 1.
      Source sequence(s)
      AI188403, BC071731, DA244814, DB483450
      Consensus CDS
      CCDS41327.2
      UniProtKB/TrEMBL
      A8MRA7
      UniProtKB/Swiss-Prot
      Q5TC12
      Conserved Domains (1) summary
      pfam06644
      Location:100265
      ATP11; ATP11 protein
    2. NM_001243728.1NP_001230657.1  ATP synthase mitochondrial F1 complex assembly factor 1 isoform 3

      See identical proteins and their annotated locations for NP_001230657.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (3) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AK302090, AL136373, BC071731, DB448244
      Consensus CDS
      CCDS57998.1
      UniProtKB/Swiss-Prot
      Q5TC12
      Conserved Domains (1) summary
      pfam06644
      Location:1222
      ATP11; ATP11 protein
    3. NM_001256418.1NP_001243347.1  ATP synthase mitochondrial F1 complex assembly factor 1 isoform 4

      See identical proteins and their annotated locations for NP_001243347.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses a downstream in-frame start codon, compared to variant 1. The encoded isoform (4) is shorter at the N-terminus, compared to isoform 1.
      Source sequence(s)
      AI188403, AK301874, BC071731, DB448244
      Consensus CDS
      CCDS57997.1
      UniProtKB/Swiss-Prot
      Q5TC12
      Related
      ENSP00000443588, ENST00000542495
      Conserved Domains (1) summary
      pfam06644
      Location:1159
      ATP11; ATP11 protein
    4. NM_022745.4NP_073582.3  ATP synthase mitochondrial F1 complex assembly factor 1 isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AI188403, BC071731, DA244814, DB483450
      Consensus CDS
      CCDS541.2
      UniProtKB/TrEMBL
      I3L448
      UniProtKB/Swiss-Prot
      Q5TC12
      Related
      ENSP00000361005, ENST00000371937
      Conserved Domains (1) summary
      pfam06644
      Location:100333
      ATP11; ATP11 protein

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p2 Primary Assembly

      Range
      46635039..46668427
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018912.2 Alternate CHM1_1.1

      Range
      47217704..47251103
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)