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

Gene ID: 80067, updated on 8-Jul-2021

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
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
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Genomic context

See DCAF17 in Genome Data Viewer
Location:
2q31.1
Exon count:
18
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (171434166..171491029)
105.20201022 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 methyltransferase 8, methylcytidine Neighboring gene ribosomal protein S26 pseudogene 20 Neighboring gene CRISPRi-validated cis-regulatory element chr2.5458 Neighboring gene death associated protein 3 pseudogene 2

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?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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
PubMed 
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 integral component of 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
    Q5H9S7
    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: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 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_017005001.2XP_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

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