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

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

    Summary

    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
    NEW
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    Try the new Transcript table

    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

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

    Interactions

    General gene information

    Gene Ontology Provided by MGI

    Component Evidence Code Pubs
    part_of Cul4-RING E3 ubiquitin ligase complex  
    part_of Cul4-RING E3 ubiquitin ligase complex  
    part_of Cul4-RING E3 ubiquitin ligase complex  
    located_in cytosol  
    located_in cytosol  
    located_in membrane  
    located_in nucleolus  
    located_in nucleoplasm  
    located_in nucleoplasm  

    General protein information

    Preferred Names
    DDB1- and CUL4-associated factor 17

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001165980.1NP_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:31504
      DCAF17; DDB1- and CUL4-associated factor 17
    2. NM_001165981.1NP_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:31504
      DCAF17; DDB1- and CUL4-associated factor 17
    3. NM_001165982.1NP_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:31244
      DCAF17; DDB1- and CUL4-associated factor 17
    4. NM_198005.2NP_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:31473
      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_030252168.1XP_030108028.1  DDB1- and CUL4-associated factor 17 isoform X2

      Conserved Domains (1) summary
      pfam15802
      Location:1278
      DCAF17; DDB1- and CUL4-associated factor 17
    2. XM_036162652.1XP_036018545.1  DDB1- and CUL4-associated factor 17 isoform X1

      UniProtKB/Swiss-Prot
      A2AUU6, Q3TUL7, Q8C002, Q8K0F5
      Conserved Domains (1) summary
      pfam15802
      Location:31504
      DCAF17; DDB1- and CUL4-associated factor 17
    3. XM_006500339.5XP_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:31504
      DCAF17; DDB1- and CUL4-associated factor 17
    4. XM_036162651.1XP_036018544.1  DDB1- and CUL4-associated factor 17 isoform X1

      UniProtKB/Swiss-Prot
      A2AUU6, Q3TUL7, Q8C002, Q8K0F5
      Conserved Domains (1) summary
      pfam15802
      Location:31504
      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

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