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

Gene ID: 75763, updated on 5-Mar-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
Predicted to be involved in protein ubiquitination. 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, Apr 2022]
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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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

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. 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
  2. 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
  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)
  • Targeted (2)  1 citation
  • 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 molecular_function ND
No biological Data available
more info
  
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
  
involved_in protein ubiquitination IEA
Inferred from Electronic Annotation
more info
  
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
  
located_in cytosol ISO
Inferred from Sequence Orthology
more info
  
located_in membrane IEA
Inferred from Electronic Annotation
more info
  
located_in nucleoplasm ISO
Inferred from Sequence Orthology
more info
  
located_in nucleus IEA
Inferred from Electronic Annotation
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

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