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    Dcaf17 DDB1 and CUL4 associated factor 17 [ Mus musculus (house mouse) ]

    Gene ID: 75763, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Dcaf17provided by MGI
    Official Full Name
    DDB1 and CUL4 associated factor 17provided by MGI
    Primary source
    MGI:MGI:1923013
    See related
    Ensembl:ENSMUSG00000041966 AllianceGenome:MGI:1923013
    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
    2810055O12Rik; 4833418A01Rik; A030004A10Rik; A930009G19Rik
    Summary
    Acts upstream of or within acrosome assembly and cell morphogenesis. Predicted to be located in cytosol and nucleoplasm. Predicted to be part of Cul4-RING E3 ubiquitin ligase complex. Is expressed in several structures, including gut; lower urinary tract; nasal cavity epithelium; submandibular gland primordium; and ventral grey horn. Human ortholog(s) of this gene implicated in Woodhouse-Sakati syndrome. Orthologous to human DCAF17 (DDB1 and CUL4 associated factor 17). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in CNS E18 (RPKM 1.5), CNS E14 (RPKM 1.4) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Dcaf17 in Genome Data Viewer
    Location:
    2 C2; 2 42.38 cM
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (70886086..70946796)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (71055742..71116412)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene predicted gene, 54159 Neighboring gene CapStarr-seq enhancer MGSCv37_chr2:70768788-70768989 Neighboring gene STARR-positive B cell enhancer ABC_E5929 Neighboring gene STARR-positive B cell enhancer ABC_E5930 Neighboring gene predicted gene, 39843 Neighboring gene STARR-positive B cell enhancer ABC_E11137 Neighboring gene methyltransferase 8, methylcytidine Neighboring gene CapStarr-seq enhancer MGSCv37_chr2:70885116-70885299 Neighboring gene STARR-positive B cell enhancer ABC_E509 Neighboring gene STARR-positive B cell enhancer ABC_E4465 Neighboring gene cytochrome b reductase 1 Neighboring gene predicted gene, 39576

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Deletion of DDB1- and CUL4- associated factor-17 (Dcaf17) gene causes spermatogenesis defects and male infertility in mice. Ali A, et al. Sci Rep, 2018 Jun 15. PMID 29907856, Free PMC Article
    2. Disruption of male fertility-critical Dcaf17 dysregulates mouse testis transcriptome. Abu-Dawud R, et al. Sci Rep, 2022 Dec 12. PMID 36509865, Free PMC Article
    3. Novel inactivating mutations of the DCAF17 gene in American and Turkish families cause male infertility and female subfertility in the mouse model. Gurbuz F, et al. Clin Genet, 2018 Apr. PMID 29178422
    4. DCAF13 promotes pluripotency by negatively regulating SUV39H1 stability during early embryonic development. Zhang YL, et al. EMBO J, 2018 Sep 14. PMID 30111536, Free PMC Article
    5. DDB1 binds histone reader BRWD3 to activate the transcriptional cascade in adipogenesis and promote onset of obesity. Wang X, et al. Cell Rep, 2021 Jun 22. PMID 34161765

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Disruption of male fertility-critical Dcaf17 dysregulates mouse testis transcriptome.
      Title: Disruption of male fertility-critical Dcaf17 dysregulates mouse testis transcriptome.
    2. Disruption of Dcaf17 caused asymmetric acrosome capping, impaired nuclear compaction and abnormal round spermatid to elongated spermatid transition. For the first time, these data indicate that DCAF17 is essential for spermiogenesis.
      Title: Deletion of DDB1- and CUL4- associated factor-17 (Dcaf17) gene causes spermatogenesis defects and male infertility in mice.
    3. A mouse model mimicking loss of function in exon 2 of Dcaf17 was generated using CRISPR/Cas9 and showed female subfertility and male infertility.
      Title: Novel inactivating mutations of the DCAF17 gene in American and Turkish families cause male infertility and female subfertility in the mouse model.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

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

    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 molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within acrosome assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    acts_upstream_of_or_within cell morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein ubiquitination IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within sperm motility IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within spermatogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of Cul4-RING E3 ubiquitin ligase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of Cul4-RING E3 ubiquitin ligase complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of Cul4-RING E3 ubiquitin ligase complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleolus IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    DDB1- and CUL4-associated factor 17

    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_001165980.1 → NP_001159452.1  DDB1- and CUL4-associated factor 17 isoform a

      See identical proteins and their annotated locations for NP_001159452.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a). Variants 1 and 2 both encode isoform a.
      Source sequence(s)
      AK081839, AK160679, AL929228
      Consensus CDS
      CCDS50601.1
      UniProtKB/Swiss-Prot
      A2AUU6, Q3TUL7, Q8C002, Q8K0F5
      Related
      ENSMUSP00000120016.2, ENSMUST00000154704.8
      Conserved Domains (1) summary
      pfam15802
      Location:31 → 504
      DCAF17; DDB1- and CUL4-associated factor 17

    2. NM_001165981.1 → NP_001159453.1  DDB1- and CUL4-associated factor 17 isoform a

      See identical proteins and their annotated locations for NP_001159453.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR compared to variant 1. Variants 1 and 2 both encode isoform a.
      Source sequence(s)
      AK014717, AK081839, BB772704
      Consensus CDS
      CCDS50601.1
      UniProtKB/Swiss-Prot
      A2AUU6, Q3TUL7, Q8C002, Q8K0F5
      Related
      ENSMUSP00000065624.6, ENSMUST00000064141.12
      Conserved Domains (1) summary
      pfam15802
      Location:31 → 504
      DCAF17; DDB1- and CUL4-associated factor 17

    3. NM_001165982.1 → NP_001159454.1  DDB1- and CUL4-associated factor 17 isoform c

      See identical proteins and their annotated locations for NP_001159454.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 3' UTR and coding sequence and lacks an alternate coding exon compared to variant 1, that causes a frameshift. The resulting isoform (c) has a shorter and distinct C-terminus compared to isoform a.
      Source sequence(s)
      AK032671, AK081839
      Consensus CDS
      CCDS50602.1
      UniProtKB/Swiss-Prot
      Q3TUL7
      Related
      ENSMUSP00000107785.3, ENSMUST00000112159.9
      Conserved Domains (1) summary
      pfam15802
      Location:31 → 244
      DCAF17; DDB1- and CUL4-associated factor 17

    4. NM_198005.2 → NP_932122.2  DDB1- and CUL4-associated factor 17 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (b) has a shorter and distinct C-terminus compared to isoform a.
      Source sequence(s)
      AK081839, AK160679, AL929228
      Consensus CDS
      CCDS16111.1
      UniProtKB/TrEMBL
      Z4YK64
      Related
      ENSMUSP00000099762.4, ENSMUST00000102701.5
      Conserved Domains (1) summary
      pfam15802
      Location:31 → 473
      DCAF17; DDB1- and CUL4-associated factor 17

    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_000068.8 Reference GRCm39 C57BL/6J

      Range
      70886086..70946796
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030252168.1 → XP_030108028.1  DDB1- and CUL4-associated factor 17 isoform X2

      Conserved Domains (1) summary
      pfam15802
      Location:1 → 278
      DCAF17; DDB1- and CUL4-associated factor 17

    2. XM_036162652.1 → XP_036018545.1  DDB1- and CUL4-associated factor 17 isoform X1

      UniProtKB/Swiss-Prot
      A2AUU6, Q3TUL7, Q8C002, Q8K0F5
      Conserved Domains (1) summary
      pfam15802
      Location:31 → 504
      DCAF17; DDB1- and CUL4-associated factor 17

    3. XM_006500339.5 → XP_006500402.1  DDB1- and CUL4-associated factor 17 isoform X1

      See identical proteins and their annotated locations for XP_006500402.1

      UniProtKB/Swiss-Prot
      A2AUU6, Q3TUL7, Q8C002, Q8K0F5
      Conserved Domains (1) summary
      pfam15802
      Location:31 → 504
      DCAF17; DDB1- and CUL4-associated factor 17

    4. XM_036162651.1 → XP_036018544.1  DDB1- and CUL4-associated factor 17 isoform X1

      UniProtKB/Swiss-Prot
      A2AUU6, Q3TUL7, Q8C002, Q8K0F5
      Conserved Domains (1) summary
      pfam15802
      Location:31 → 504
      DCAF17; DDB1- and CUL4-associated factor 17

    RNA

    1. XR_004940761.1 RNA Sequence

    2. XR_001783197.3 RNA Sequence

    3. XR_004940764.1 RNA Sequence

    4. XR_004940763.1 RNA Sequence

    5. XR_004940762.1 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q3TUL7.1 GenPept UniProtKB/Swiss-Prot:Q3TUL7

    Gene LinkOut

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

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