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

Gene ID: 91647, updated on 2-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 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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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
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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

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