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

    Gene ID: 64756, updated on 2-Nov-2024

    Summary

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    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 MIM:608917; AllianceGenome:HGNC:18803
    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]
    Expression
    Ubiquitous expression in heart (RPKM 65.7), adrenal (RPKM 34.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ATPAF1 in Genome Data Viewer
    Location:
    1p33
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (46632737..46668557, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (46509960..46545797, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (47098409..47134229, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:47078933-47079556 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1005 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 849 Neighboring gene MOB kinase activator 3C Neighboring gene uncharacterized LOC105378697 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1006 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:47131482-47132011 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:47132012-47132540 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:47133653-47133823 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1007 Neighboring gene neudesin neurotrophic factor pseudogene 1 Neighboring gene EFCAB14 antisense RNA 1 Neighboring gene testis expressed 38 Neighboring gene EF-hand calcium binding domain 14 Neighboring gene uncharacterized LOC105378698

    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 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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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Asthma was found to be associated with a cluster of SNPs and SNP haplotypes containing the ATPAF1 gene
      Title: Identification of ATPAF1 as a novel candidate gene for asthma in children.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    3. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    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 Variation Viewer (GRCh37.p13)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ22351, FLJ55378, FLJ60653, MGC88060

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein-containing complex stabilizing activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in mitochondrial proton-transporting ATP synthase complex assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitochondrial proton-transporting ATP synthase complex assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in mitochondrial inner membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    ATP synthase mitochondrial F1 complex assembly factor 1
    Names
    homolog of yeast ATP11

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

      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
      Related
      ENSP00000330685.4, ENST00000329231.8
      Conserved Domains (1) summary
      pfam06644
      Location:83 → 264
      ATP11; ATP11 protein

    2. NM_001243728.1 → NP_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
      Related
      ENSP00000435732.1, ENST00000532925.5
      Conserved Domains (1) summary
      pfam06644
      Location:36 → 221
      ATP11; ATP11 protein

    3. NM_001256418.1 → NP_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
      UniProtKB/TrEMBL
      H0YD21
      Related
      ENSP00000432771.1, ENST00000534216.5
      Conserved Domains (1) summary
      pfam06644
      Location:2 → 156
      ATP11; ATP11 protein

    4. NM_001394565.1 → NP_001381494.1  ATP synthase mitochondrial F1 complex assembly factor 1 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AL136373, AL593856
      Consensus CDS
      CCDS90944.1
      UniProtKB/Swiss-Prot
      B1AQW7, B7Z7D6, B7Z7I6, Q5TC12, Q9H6E3
      Related
      ENSP00000459167.2, ENST00000574428.6
      Conserved Domains (1) summary
      pfam06644
      Location:60 → 307
      ATP11; ATP11 protein

    5. NM_022745.6 → NP_073582.3  ATP synthase mitochondrial F1 complex assembly factor 1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AL136373, AL593856
      Consensus CDS
      CCDS541.2
      UniProtKB/TrEMBL
      I3L448
      Related
      ENSP00000460964.1, ENST00000576409.5
      Conserved Domains (1) summary
      pfam06644
      Location:83 → 332
      ATP11; ATP11 protein

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      46632737..46668557 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      46509960..46545797 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5TC12.1 GenPept UniProtKB/Swiss-Prot:Q5TC12

    Gene LinkOut

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

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