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

    Gene ID: 57815, updated on 7-May-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)
    • Endonuclease-mediated (1) 
    • Targeted (2) 

    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

    Gene LinkOut

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