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    DCAF17 DDB1 and CUL4 associated factor 17 [ Homo sapiens (human) ]

    Gene ID: 80067, updated on 8-Oct-2017
    Official Symbol
    DCAF17provided by HGNC
    Official Full Name
    DDB1 and CUL4 associated factor 17provided by HGNC
    Primary source
    HGNC:HGNC:25784
    See related
    Ensembl:ENSG00000115827 MIM:612515; Vega:OTTHUMG00000132259
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    C2orf37; C20orf37
    Summary
    This gene encodes a nuclear transmembrane protein that associates with cullin 4A/damaged DNA binding protein 1 ubiquitin ligase complex. Mutations in this gene are associated with Woodhouse-Sakati syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
    Orthologs
    Location:
    2q31.1
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 2 NC_000002.12 (171434166..171491029)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (172290761..172341562)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373737 Neighboring gene methyltransferase like 8 Neighboring gene ribosomal protein S26 pseudogene 20 Neighboring gene death associated protein 3 pseudogene 2 Neighboring gene ribosomal protein S15 pseudogene 4

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ13096, FLJ44210, DKFZp781C2086

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    post-translational protein modification TAS
    Traceable Author Statement
    more info
     
    protein ubiquitination IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    Cul4-RING E3 ubiquitin ligase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    nucleolus IEA
    Inferred from Electronic Annotation
    more info
     
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    DDB1- and CUL4-associated factor 17

    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.

    Genomic

    1. NG_013038.1 RefSeqGene

      Range
      5001..55802
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001164821.1NP_001158293.1  DDB1- and CUL4-associated factor 17 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks two exons in the coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.
      Source sequence(s)
      AC007969, AK307877, BM676973
      Consensus CDS
      CCDS54419.1
      UniProtKB/TrEMBL
      F5H7W1
      Related
      ENSP00000442238.1, ENST00000539783.5
      Conserved Domains (1) summary
      pfam15802
      Location:31438
      DCAF17; DDB1- and CUL4-associated factor 17
    2. NM_025000.3NP_079276.2  DDB1- and CUL4-associated factor 17 isoform 1

      See identical proteins and their annotated locations for NP_079276.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC007969, AK307877, BC140843, BM676973
      Consensus CDS
      CCDS2243.2
      UniProtKB/Swiss-Prot
      Q5H9S7
      Related
      ENSP00000364404.3, OTTHUMP00000163091, ENST00000375255.7, OTTHUMT00000255342
      Conserved Domains (1) summary
      pfam15802
      Location:31505
      DCAF17; DDB1- and CUL4-associated factor 17

    RNA

    1. NR_028482.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC007969, AK307877, BC144653, BM676973

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p7 Primary Assembly

      Range
      171434166..171491029
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017004998.1XP_016860487.1  DDB1- and CUL4-associated factor 17 isoform X7

      Conserved Domains (1) summary
      pfam15802
      Location:1279
      DCAF17; DDB1- and CUL4-associated factor 17
    2. XM_017005002.1XP_016860491.1  DDB1- and CUL4-associated factor 17 isoform X9

      Related
      ENSP00000477604.1, ENST00000611110.4
    3. XM_006712767.1XP_006712830.1  DDB1- and CUL4-associated factor 17 isoform X3

      See identical proteins and their annotated locations for XP_006712830.1

      Conserved Domains (1) summary
      pfam15802
      Location:1418
      DCAF17; DDB1- and CUL4-associated factor 17
    4. XM_017004995.1XP_016860484.1  DDB1- and CUL4-associated factor 17 isoform X4

    5. XM_011511881.1XP_011510183.1  DDB1- and CUL4-associated factor 17 isoform X1

      Conserved Domains (1) summary
      pfam15802
      Location:31494
      DCAF17; DDB1- and CUL4-associated factor 17
    6. XM_011511882.1XP_011510184.1  DDB1- and CUL4-associated factor 17 isoform X2

      Conserved Domains (1) summary
      pfam15802
      Location:31484
      DCAF17; DDB1- and CUL4-associated factor 17
    7. XM_017004997.1XP_016860486.1  DDB1- and CUL4-associated factor 17 isoform X6

    8. XM_017004999.1XP_016860488.1  DDB1- and CUL4-associated factor 17 isoform X8

      Conserved Domains (1) summary
      pfam15802
      Location:31244
      DCAF17; DDB1- and CUL4-associated factor 17
    9. XM_017005000.1XP_016860489.1  DDB1- and CUL4-associated factor 17 isoform X8

      Conserved Domains (1) summary
      pfam15802
      Location:31244
      DCAF17; DDB1- and CUL4-associated factor 17
    10. XM_017004996.1XP_016860485.1  DDB1- and CUL4-associated factor 17 isoform X5

    11. XM_017005001.1XP_016860490.1  DDB1- and CUL4-associated factor 17 isoform X8

      Conserved Domains (1) summary
      pfam15802
      Location:31244
      DCAF17; DDB1- and CUL4-associated factor 17
    12. XM_006712768.1XP_006712831.1  DDB1- and CUL4-associated factor 17 isoform X3

      See identical proteins and their annotated locations for XP_006712831.1

      Conserved Domains (1) summary
      pfam15802
      Location:1418
      DCAF17; DDB1- and CUL4-associated factor 17

    RNA

    1. XR_001738961.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018913.2 Alternate CHM1_1.1

      Range
      172297542..172348338
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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