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

    Gene ID: 91647, updated on 27-Nov-2024

    Summary

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    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; AllianceGenome:HGNC:18802
    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
    mouse all
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    Genomic context

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    See ATPAF2 in Genome Data Viewer
    Location:
    17p11.2
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (18015059..18039168, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (17961855..17985971, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (17921335..17942482, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984989 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:17884370-17884870 Neighboring gene dynein regulatory complex subunit 3 Neighboring gene brain protein I3 pseudogene 3 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:17898150-17898316 Neighboring gene ribosomal protein S2 pseudogene Neighboring gene Sharpr-MPRA regulatory region 6800 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:17925691-17925854 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11822 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11821 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11820 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8264 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8265 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11823 Neighboring gene GID complex subunit 4 homolog Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11824 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:17991145-17991646 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:17991647-17992146 Neighboring gene developmentally regulated GTP binding protein 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:18010366-18011013 Neighboring gene uncharacterized LOC105371566

    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. Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12. De Meirleir L, et al. J Med Genet, 2004 Feb. PMID 14757859, Free PMC Article
    2. CLIC, a tool for expanding biological pathways based on co-expression across thousands of datasets. Li Y, et al. PLoS Comput Biol, 2017 Jul. PMID 28719601, Free PMC Article
    3. Defining the pathogenesis of the human Atp12p W94R mutation using a Saccharomyces cerevisiae yeast model. Meulemans A, et al. J Biol Chem, 2010 Feb 5. PMID 19933271, Free PMC Article
    4. Atp11p and Atp12p are assembly factors for the F(1)-ATPase in human mitochondria. Wang ZG, et al. J Biol Chem, 2001 Aug 17. PMID 11410595
    5. Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse. Bi W, et al. Genome Res, 2002 May. PMID 11997338, Free PMC Article

    See all (42) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Two possible dementia susceptibility genes including ATPAF2 and TOM1L2 near SREBF1 locus were identified.
      Title: Analysis of lipid pathway genes indicates association of sequence variation near SREBF1/TOM1L2/ATPAF2 with dementia risk.
    2. Data show that wild type human Atp12p rescues the respiratory defect of a yeast ATP12 deletion mutant (Deltaatp12).
      Title: Defining the pathogenesis of the human Atp12p W94R mutation using a Saccharomyces cerevisiae yeast model.
    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

    Associated conditions

    Description Tests
    Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
    MedGen: C3276276 OMIM: 604273 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    Biological insights from 108 schizophrenia-associated genetic loci.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC29736

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    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 IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in proton-transporting ATP synthase complex assembly NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in mitochondrial inner membrane IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nuclear speck IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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

    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.

    Genomic

    1. NG_012824.1 RefSeqGene

      Range
      4999..26146
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_145691.4 → NP_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
      A6NDE5, A8K2J2, Q6XYC7, Q8N5M1
      Related
      ENSP00000417190.2, ENST00000474627.8
      Conserved Domains (1) summary
      pfam07542
      Location:48 → 166
      ATP12; ATP12 chaperone 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_000017.11 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

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

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

      Conserved Domains (1) summary
      pfam07542
      Location:48 → 168
      ATP12; ATP12 chaperone protein

    3. XM_017025302.2 → XP_016880791.1  ATP synthase mitochondrial F1 complex assembly factor 2 isoform X3

    4. XM_005256848.5 → XP_005256905.1  ATP synthase mitochondrial F1 complex assembly factor 2 isoform X2

      UniProtKB/TrEMBL
      C9J2Q2
      Conserved Domains (1) summary
      pfam07542
      Location:48 → 168
      ATP12; ATP12 chaperone protein

    RNA

    1. XR_007065531.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      17961855..17985971 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054317768.1 → XP_054173743.1  ATP synthase mitochondrial F1 complex assembly factor 2 isoform X4

    2. XM_054317765.1 → XP_054173740.1  ATP synthase mitochondrial F1 complex assembly factor 2 isoform X1

    3. XM_054317767.1 → XP_054173742.1  ATP synthase mitochondrial F1 complex assembly factor 2 isoform X3

    4. XM_054317766.1 → XP_054173741.1  ATP synthase mitochondrial F1 complex assembly factor 2 isoform X2

    RNA

    1. XR_008484963.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N5M1.1 GenPept UniProtKB/Swiss-Prot:Q8N5M1

    Gene LinkOut

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

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