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

    Gene ID: 80067, updated on 10-Dec-2024

    Summary

    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; AllianceGenome:HGNC:25784
    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]
    Expression
    Ubiquitous expression in thyroid (RPKM 5.0), testis (RPKM 3.3) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See DCAF17 in Genome Data Viewer
    Location:
    2q31.1
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (171434226..171485052)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (171911366..171962182)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (172290736..172341562)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373737 Neighboring gene small integral membrane protein 26-like Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:172172370-172173192 Neighboring gene Sharpr-MPRA regulatory region 707 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16746 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:172174870-172175072 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16747 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:172175660-172176482 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16748 Neighboring gene Sharpr-MPRA regulatory region 8774 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16749 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16750 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:172183340-172183864 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12100 Neighboring gene methyltransferase 8, tRNA N3-cytidine Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16751 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:172242874-172243458 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:172243459-172244043 Neighboring gene ribosomal protein S26 pseudogene 20 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12101 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16752 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16753 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16754 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16755 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16756 Neighboring gene OCT4-H3K27ac hESC enhancer GRCh37_chr2:172289881-172290441 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:172291003-172291562 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:172303768-172303972 Neighboring gene CRISPRi-validated cis-regulatory element chr2.5458 Neighboring gene death associated protein 3 pseudogene 2 Neighboring gene ribosomal protein S15 pseudogene 4

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ13096, FLJ44210, DKFZp781C2086

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    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 IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     

    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.

    Genomic

    1. NG_013038.2 RefSeqGene

      Range
      4976..55802
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001164821.2NP_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_025000.4NP_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
      B2RTW5, Q53TN3, Q5H9S7, Q9H908
      Related
      ENSP00000364404.3, ENST00000375255.8
      Conserved Domains (1) summary
      pfam15802
      Location:31505
      DCAF17; DDB1- and CUL4-associated factor 17

    RNA

    1. NR_028482.2 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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      171434226..171485052
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011511881.2XP_011510183.1  DDB1- and CUL4-associated factor 17 isoform X1

      Conserved Domains (1) summary
      pfam15802
      Location:31494
      DCAF17; DDB1- and CUL4-associated factor 17
    2. XM_047445911.1XP_047301867.1  DDB1- and CUL4-associated factor 17 isoform X3

    3. XM_011511882.2XP_011510184.1  DDB1- and CUL4-associated factor 17 isoform X2

      Conserved Domains (1) summary
      pfam15802
      Location:31484
      DCAF17; DDB1- and CUL4-associated factor 17
    4. XM_047445912.1XP_047301868.1  DDB1- and CUL4-associated factor 17 isoform X5

    5. XM_047445913.1XP_047301869.1  DDB1- and CUL4-associated factor 17 isoform X7

    6. XM_017004999.2XP_016860488.1  DDB1- and CUL4-associated factor 17 isoform X7

      Conserved Domains (1) summary
      pfam15802
      Location:31244
      DCAF17; DDB1- and CUL4-associated factor 17
    7. XM_017004996.2XP_016860485.1  DDB1- and CUL4-associated factor 17 isoform X6

    8. XM_017005001.3XP_016860490.1  DDB1- and CUL4-associated factor 17 isoform X7

      Conserved Domains (1) summary
      pfam15802
      Location:31244
      DCAF17; DDB1- and CUL4-associated factor 17
    9. XM_006712768.2XP_006712831.1  DDB1- and CUL4-associated factor 17 isoform X4

      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_007082530.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      171911366..171962182
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054344014.1XP_054199989.1  DDB1- and CUL4-associated factor 17 isoform X1

    2. XM_054344016.1XP_054199991.1  DDB1- and CUL4-associated factor 17 isoform X3

    3. XM_054344015.1XP_054199990.1  DDB1- and CUL4-associated factor 17 isoform X2

    4. XM_054344018.1XP_054199993.1  DDB1- and CUL4-associated factor 17 isoform X5

    5. XM_054344022.1XP_054199997.1  DDB1- and CUL4-associated factor 17 isoform X7

    6. XM_054344023.1XP_054199998.1  DDB1- and CUL4-associated factor 17 isoform X7

    7. XM_054344019.1XP_054199994.1  DDB1- and CUL4-associated factor 17 isoform X6

    8. XM_054344024.1XP_054199999.1  DDB1- and CUL4-associated factor 17 isoform X7

    9. XM_054344017.1XP_054199992.1  DDB1- and CUL4-associated factor 17 isoform X4

    10. XM_054344020.1XP_054199995.1  DDB1- and CUL4-associated factor 17 isoform X8

      UniProtKB/TrEMBL
      H0Y2X0
    11. XM_054344021.1XP_054199996.1  DDB1- and CUL4-associated factor 17 isoform X8

      UniProtKB/TrEMBL
      H0Y2X0

    RNA

    1. XR_008486529.1 RNA Sequence