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Afg2a AFG2 AAA ATPase homolog A [ Mus musculus (house mouse) ]

Gene ID: 57815, updated on 11-Apr-2024

Summary

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Official Symbol
Afg2aprovided by MGI
Official Full Name
AFG2 AAA ATPase homolog Aprovided by MGI
Primary source
MGI:MGI:1927170
See related
Ensembl:ENSMUSG00000027722 AllianceGenome:MGI:1927170
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
Spaf; Spata5; 2510048F20Rik
Summary
Predicted to enable ATP hydrolysis activity. Predicted to be involved in brain development. Predicted to act upstream of or within cell differentiation and spermatogenesis. Predicted to be located in spindle. Predicted to be active in cytoplasm. Is expressed in several structures, including cartilage; endocrine gland; genitourinary system; nervous system; and trachea. Orthologous to human SPATA5 (spermatogenesis associated 5). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in CNS E11.5 (RPKM 3.8), placenta adult (RPKM 3.4) and 25 other tissues See more
Orthologs
human all
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Genomic context

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See Afg2a in Genome Data Viewer
Location:
3 B; 3 18.46 cM
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 3 NC_000069.7 (37474052..37633245)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 3 NC_000069.6 (37419903..37579096)

Chromosome 3 - NC_000069.7Genomic Context describing neighboring genes Neighboring gene Bardet-Biedl syndrome 12 Neighboring gene 28S ribosomal protein S33, mitochondrial pseudogene Neighboring gene fibroblast growth factor 2, opposite strand Neighboring gene fibroblast growth factor 2 Neighboring gene STARR-positive B cell enhancer ABC_E1616 Neighboring gene nudix hydrolase 6 Neighboring gene predicted gene, 36412 Neighboring gene RIKEN cDNA 4930594O21 gene Neighboring gene PRELI domain containing 1 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. SPAF, a new AAA-protein specific to early spermatogenesis and malignant conversion. Liu Y, et al. Oncogene, 2000 Mar 16. PMID 10734318
  2. Identification of candidate alkylator-induced cancer susceptibility genes by whole genome scanning in mice. Fenske TS, et al. Cancer Res, 2006 May 15. PMID 16707424
  3. The E3 ubiquitin ligases, HUWE1 and NEDD4-1, are involved in the post-translational regulation of the ABCG1 and ABCG4 lipid transporters. Aleidi SM, et al. J Biol Chem, 2015 Oct 2. PMID 26296893, Free PMC Article
  4. A Comprehensive Analysis of Fibroblast Growth Factor Receptor 2b Signaling on Epithelial Tip Progenitor Cells During Early Mouse Lung Branching Morphogenesis. Jones MR, et al. Front Genet, 2018. PMID 30728831, Free PMC Article
  5. New roles for the de-ubiquitylating enzyme OTUD4 in an RNA-protein network and RNA granules. Das R, et al. J Cell Sci, 2019 Jun 17. PMID 31138677, Free PMC Article

See all (23) citations in PubMed

GeneRIFs: Gene References Into Functions

Variation

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Alleles

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

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables ATP hydrolysis activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables hydrolase activity IEA
Inferred from Electronic Annotation
more info
  
enables nucleotide binding IEA
Inferred from Electronic Annotation
more info
  
enables preribosome binding ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
involved_in brain development ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within cell differentiation IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within multicellular organism development IEA
Inferred from Electronic Annotation
more info
  
involved_in ribosomal large subunit biogenesis ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within ribosome biogenesis IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within spermatogenesis IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
  
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
  
located_in mitochondrion IEA
Inferred from Electronic Annotation
more info
  
located_in spindle ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
ATPase family gene 2 protein homolog A
Names
ATPase family protein 2 homolog
ribosome biogenesis protein SPATA5
spermatogenesis associated 5
spermatogenesis-associated factor protein
spermatogenesis-associated protein 5
NP_001156983.1
NP_001297402.1
NP_067318.2
XP_017175162.1
XP_030108596.1
XP_036019090.1

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_001163511.2 → NP_001156983.1  ATPase family gene 2 protein homolog A isoform 1

    See identical proteins and their annotated locations for NP_001156983.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AK011111, AL669927, BY106106, CO043526
    Consensus CDS
    CCDS50895.1
    UniProtKB/Swiss-Prot
    A2ACU2, A3KG23, A3KG24, Q3UMC0, Q9CXZ7, Q9Z2K7
    UniProtKB/TrEMBL
    B7ZNK9
    Related
    ENSMUSP00000103747.4, ENSMUST00000108112.10
    Conserved Domains (3) summary
    COG0464
    Location:370 → 882
    SpoVK; AAA+-type ATPase, SpoVK/Ycf46/Vps4 family [Cell wall/membrane/envelope biogenesis, Cell cycle control, cell division, chromosome partitioning, Signal transduction mechanisms]
    pfam00004
    Location:664 → 796
    AAA; ATPase family associated with various cellular activities (AAA)
    cl21693
    Location:64 → 132
    CDC48_N; Cell division protein 48 (CDC48), N-terminal domain

  2. NM_001310473.1 → NP_001297402.1  ATPase family gene 2 protein homolog A isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) contains an alternate internal exon, resulting in a frameshift and an early stop codon compared to variant 1. The encoded isoform (3) has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AK011111, AL669927, BY106106, CO043526, DN175568
    Consensus CDS
    CCDS79900.1
    UniProtKB/TrEMBL
    A0A0G2JFY0, B7ZNK9
    Related
    ENSMUSP00000143349.2, ENSMUST00000198968.2
    Conserved Domains (3) summary
    COG0464
    Location:370 → 835
    SpoVK; AAA+-type ATPase, SpoVK/Ycf46/Vps4 family [Cell wall/membrane/envelope biogenesis, Cell cycle control, cell division, chromosome partitioning, Signal transduction mechanisms]
    pfam00004
    Location:664 → 796
    AAA; ATPase family associated with various cellular activities (AAA)
    cl21693
    Location:64 → 132
    CDC48_N; Cell division protein 48 (CDC48), N-terminal domain

  3. NM_021343.3 → NP_067318.2  ATPase family gene 2 protein homolog A isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice junction at the 5' end of an exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is 1 aa shorter compared to isoform 1.
    Source sequence(s)
    AK011111, AL669927, BY106106, CO043526
    Consensus CDS
    CCDS17321.1
    UniProtKB/TrEMBL
    A0A0A0MQ80, B7ZNK9
    Related
    ENSMUSP00000029277.9, ENSMUST00000029277.13
    Conserved Domains (3) summary
    COG0464
    Location:369 → 881
    SpoVK; AAA+-type ATPase, SpoVK/Ycf46/Vps4 family [Cell wall/membrane/envelope biogenesis, Cell cycle control, cell division, chromosome partitioning, Signal transduction mechanisms]
    pfam00004
    Location:663 → 795
    AAA; ATPase family associated with various cellular activities (AAA)
    cl21693
    Location:63 → 131
    CDC48_N; Cell division protein 48 (CDC48), N-terminal domain

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_000069.7 Reference GRCm39 C57BL/6J

    Range
    37474052..37633245
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_030252736.1 → XP_030108596.1  ATPase family gene 2 protein homolog A isoform X2

    UniProtKB/TrEMBL
    B7ZNK9
    Conserved Domains (2) summary
    TIGR01243
    Location:322 → 834
    CDC48; AAA family ATPase, CDC48 subfamily
    cl21693
    Location:63 → 131
    CDC48_N; Cell division protein 48 (CDC48), N-terminal domain

  2. XM_036163197.1 → XP_036019090.1  ATPase family gene 2 protein homolog A isoform X1

    UniProtKB/TrEMBL
    B7ZNK9
    Conserved Domains (2) summary
    TIGR01243
    Location:323 → 835
    CDC48; AAA family ATPase, CDC48 subfamily
    cl21693
    Location:64 → 132
    CDC48_N; Cell division protein 48 (CDC48), N-terminal domain

  3. XM_017319673.1 → XP_017175162.1  ATPase family gene 2 protein homolog A isoform X3

    Conserved Domains (1) summary
    TIGR01243
    Location:1 → 466
    CDC48; AAA family ATPase, CDC48 subfamily
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q3UMC0.2 GenPept UniProtKB/Swiss-Prot:Q3UMC0

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