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Atpaf2 ATP synthase mitochondrial F1 complex assembly factor 2 [ Mus musculus (house mouse) ]

Gene ID: 246782, updated on 27-Nov-2024

Summary

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Official Symbol
Atpaf2provided by MGI
Official Full Name
ATP synthase mitochondrial F1 complex assembly factor 2provided by MGI
Primary source
MGI:MGI:2180561
See related
Ensembl:ENSMUSG00000042709 AllianceGenome:MGI:2180561
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
ATP12; ATP12p
Summary
Predicted to be involved in mitochondrial proton-transporting ATP synthase complex assembly. Located in mitochondrion. Human ortholog(s) of this gene implicated in mitochondrial complex V (ATP synthase) deficiency nuclear type 1. Orthologous to human ATPAF2 (ATP synthase mitochondrial F1 complex assembly factor 2). [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in testis adult (RPKM 21.6), subcutaneous fat pad adult (RPKM 17.6) and 28 other tissues See more
Orthologs
human all
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Genomic context

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See Atpaf2 in Genome Data Viewer
Location:
11 B2; 11 37.81 cM
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (60291450..60309427, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (60400624..60420479, complement)

Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene target of myb1-like 2 (chicken) Neighboring gene STARR-positive B cell enhancer ABC_E77 Neighboring gene glyceraldehyde-3-phosphate dehydrogenase pseudogene Neighboring gene STARR-seq mESC enhancer starr_29650 Neighboring gene dynein regulatory complex subunit 3 Neighboring gene STARR-positive B cell enhancer ABC_E1139 Neighboring gene STARR-seq mESC enhancer starr_29653 Neighboring gene GID complex subunit 4, VID24 homolog Neighboring gene STARR-seq mESC enhancer starr_29654 Neighboring gene predicted gene 12268 Neighboring gene ribosomal protein S4, X-linked pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Conserved role of ATP synthase in mammalian cilia. Lin W, et al. Exp Cell Res, 2021 Apr 1. PMID 33639177
  2. Phenotypic consequences of copy number variation: insights from Smith-Magenis and Potocki-Lupski syndrome mouse models. Ricard G, et al. PLoS Biol, 2010 Nov 23. PMID 21124890, Free PMC Article
  3. The human (PEDB) and mouse (mPEDB) Prostate Expression Databases. Nelson PS, et al. Nucleic Acids Res, 2002 Jan 1. PMID 11752298, Free PMC Article
  4. Impaired OTUD7A-dependent Ankyrin regulation mediates neuronal dysfunction in mouse and human models of the 15q13.3 microdeletion syndrome. Unda BK, et al. Mol Psychiatry, 2023 Apr. PMID 36604605, Free PMC Article
  5. Mouse screen reveals multiple new genes underlying mouse and human hearing loss. Ingham NJ, et al. PLoS Biol, 2019 Apr. PMID 30973865, Free PMC Article

See all (21) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Conserved role of ATP synthase in mammalian cilia.
    Title: Conserved role of ATP synthase in mammalian cilia.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (2) 
  • Targeted (1) 

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
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 ISO
Inferred from Sequence Orthology
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 cytosol IEA
Inferred from Electronic Annotation
more info
  
located_in cytosol ISO
Inferred from Sequence Orthology
more info
  
is_active_in mitochondrial inner membrane ISO
Inferred from Sequence Orthology
more info
  
is_active_in mitochondrial inner membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in mitochondrion HDA PubMed 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nuclear speck IEA
Inferred from Electronic Annotation
more info
  
located_in nuclear speck ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
ATP synthase mitochondrial F1 complex assembly factor 2

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_001364117.2 → NP_001351046.1  ATP synthase mitochondrial F1 complex assembly factor 2 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AL596090
    Conserved Domains (1) summary
    cl02228
    Location:1 → 163
    ATP12; ATP12 chaperone protein

  2. NM_001364118.2 → NP_001351047.1  ATP synthase mitochondrial F1 complex assembly factor 2 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AL596090
    Conserved Domains (1) summary
    cl02228
    Location:1 → 163
    ATP12; ATP12 chaperone protein

  3. NM_001408878.1 → NP_001395807.1  ATP synthase mitochondrial F1 complex assembly factor 2 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AL596090

  4. NM_001408879.1 → NP_001395808.1  ATP synthase mitochondrial F1 complex assembly factor 2 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AL596090

  5. NM_001408880.1 → NP_001395809.1  ATP synthase mitochondrial F1 complex assembly factor 2 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AL596090

  6. NM_001408881.1 → NP_001395810.1  ATP synthase mitochondrial F1 complex assembly factor 2 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AL596090

  7. NM_001408882.1 → NP_001395811.1  ATP synthase mitochondrial F1 complex assembly factor 2 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AL596090

  8. NM_001408883.1 → NP_001395812.1  ATP synthase mitochondrial F1 complex assembly factor 2 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AL596090

  9. NM_001408884.1 → NP_001395813.1  ATP synthase mitochondrial F1 complex assembly factor 2 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AL596090

  10. NM_001408885.1 → NP_001395814.1  ATP synthase mitochondrial F1 complex assembly factor 2 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AL596090

  11. NM_001408886.1 → NP_001395815.1  ATP synthase mitochondrial F1 complex assembly factor 2 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AL596090

  12. NM_001408887.1 → NP_001395816.1  ATP synthase mitochondrial F1 complex assembly factor 2 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AL596090

  13. NM_001408888.1 → NP_001395817.1  ATP synthase mitochondrial F1 complex assembly factor 2 isoform 6

    Status: VALIDATED

    Source sequence(s)
    AL596090

  14. NM_001408889.1 → NP_001395818.1  ATP synthase mitochondrial F1 complex assembly factor 2 isoform 7

    Status: VALIDATED

    Source sequence(s)
    AL596090

  15. NM_001408890.1 → NP_001395819.1  ATP synthase mitochondrial F1 complex assembly factor 2 isoform 8

    Status: VALIDATED

    Source sequence(s)
    AL596090

  16. NM_145427.4 → NP_663402.3  ATP synthase mitochondrial F1 complex assembly factor 2 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AL596090
    Consensus CDS
    CCDS24789.2
    UniProtKB/Swiss-Prot
    Q8BP08, Q91YY4
    Related
    ENSMUSP00000104361.3, ENSMUST00000108721.9

RNA

  1. NR_157083.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL596090

  2. NR_176807.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL596090

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000077.7 Reference GRCm39 C57BL/6J

    Range
    60291450..60309427 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q91YY4.1 GenPept UniProtKB/Swiss-Prot:Q91YY4

Gene LinkOut

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

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