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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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Related articles in PubMed

  1. Differential expression of ATPAF1 and ATPAF2 genes encoding F(1)-ATPase assembly proteins in mouse tissues. Picková A, et al. FEBS Lett, 2003 Sep 11. PMID 12965202
  2. Identification of ATPAF1 as a novel candidate gene for asthma in children. Schauberger EM, et al. J Allergy Clin Immunol, 2011 Oct. PMID 21696813, Free PMC Article
  3. OGFOD1, a member of the 2-oxoglutarate and iron dependent dioxygenase family, functions in ischemic signaling. Saito K, et al. FEBS Lett, 2010 Aug 4. PMID 20579638
  4. Atp11p and Atp12p are chaperones for F(1)-ATPase biogenesis in mitochondria. Ackerman SH. Biochim Biophys Acta, 2002 Sep 10. PMID 12206899
  5. Assembly factors of F1FO-ATP synthase across genomes. Pícková A, et al. Proteins, 2005 May 15. PMID 15789402

See all (36) citations in PubMed

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 variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

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.

Chemical Information
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