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

Gene ID: 91647, updated on 5-Aug-2018

Summary

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; Vega:OTTHUMG00000059354
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

Genomic context

See ATPAF2 in Genome Data Viewer
Location:
17p11.2
Exon count:
11
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (18015059..18039168, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (17921334..17942483, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984989 Neighboring gene dynein regulatory complex subunit 3 Neighboring gene brain protein I3 pseudogene 3 Neighboring gene ribosomal protein S2 pseudogene Neighboring gene GID complex subunit 4 homolog Neighboring gene uncharacterized LOC105371566 Neighboring gene developmentally regulated GTP binding protein 2

Genomic regions, transcripts, and products

Expression

  • 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC29736

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
proton-transporting ATP synthase complex assembly NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
 
mitochondrion IEA
Inferred from Electronic Annotation
more info
 
nuclear speck IDA
Inferred from Direct Assay
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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
    5001..26147
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_145691.3NP_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, AI857387, BC004114
    Consensus CDS
    CCDS32585.1
    UniProtKB/Swiss-Prot
    Q8N5M1
    Related
    ENSP00000417190.2, OTTHUMP00000065658, ENST00000474627.7, OTTHUMT00000131934
    Conserved Domains (1) summary
    pfam07542
    Location:48166
    ATP12; ATP12 chaperone protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p12 Primary Assembly

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

mRNA and Protein(s)

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

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

    Conserved Domains (1) summary
    pfam07542
    Location:48168
    ATP12; ATP12 chaperone protein
  3. XM_017025302.1XP_016880791.1  ATP synthase mitochondrial F1 complex assembly factor 2 isoform X3

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

    Conserved Domains (1) summary
    pfam07542
    Location:48168
    ATP12; ATP12 chaperone protein

RNA

  1. XR_001752677.2 RNA Sequence

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