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DCAF5 DDB1 and CUL4 associated factor 5 [ Homo sapiens (human) ]

Gene ID: 8816, updated on 5-Mar-2024

Summary

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Official Symbol
DCAF5provided by HGNC
Official Full Name
DDB1 and CUL4 associated factor 5provided by HGNC
Primary source
HGNC:HGNC:20224
See related
Ensembl:ENSG00000139990 MIM:603812; AllianceGenome:HGNC:20224
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
BCRG2; BCRP2; WDR22; D14S1461E
Summary
Predicted to be involved in protein ubiquitination. Part of Cul4-RING E3 ubiquitin ligase complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in testis (RPKM 20.5), thyroid (RPKM 9.2) and 25 other tissues See more
Orthologs
mouse all
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Genomic context

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Location:
14q24.1
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (69050881..69153197, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (63263958..63366302, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (69517598..69619914, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:69445887-69446885 Neighboring gene ACTN1 divergent transcript Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:69471586-69472785 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:69480951-69481913 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:69504114-69504810 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:69504811-69505508 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:69515530-69516030 Neighboring gene ribosomal protein S29 pseudogene 1 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr14:69521614-69522813 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr14:69522944-69523511 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8632 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8633 Neighboring gene Sharpr-MPRA regulatory region 2739 Neighboring gene DEAD-box helicase 18 pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 12367 Neighboring gene Sharpr-MPRA regulatory region 6895 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5876 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5877 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5878 Neighboring gene GALNT16 and EXD2 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5879 Neighboring gene exonuclease 3'-5' domain containing 2 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr14:69705439-69706063 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5880 Neighboring gene polypeptide N-acetylgalactosaminyltransferase 16 Neighboring gene uncharacterized LOC105370549

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. A high-resolution metric HAPPY map of human chromosome 14. Dear PH, et al. Genomics, 1998 Mar 1. PMID 9521877
  2. Genomic and functional map of the chromosome 14 t(12;14) breakpoint cluster region in uterine leiomyoma. Lynch RA, et al. Genomics, 1998 Aug 15. PMID 9740667
  3. SIRT7 deacetylates DDB1 and suppresses the activity of the CRL4 E3 ligase complexes. Mo Y, et al. FEBS J, 2017 Nov. PMID 28886238
  4. Methylated DNMT1 and E2F1 are targeted for proteolysis by L3MBTL3 and CRL4(DCAF5) ubiquitin ligase. Leng F, et al. Nat Commun, 2018 Apr 24. PMID 29691401, Free PMC Article
  5. Proteolysis of methylated SOX2 protein is regulated by L3MBTL3 and CRL4(DCAF5) ubiquitin ligase. Zhang C, et al. J Biol Chem, 2019 Jan 11. PMID 30442713, Free PMC Article

See all (46) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
  2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • KIAA1824, DKFZp434A035

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 negative regulation of fatty acid biosynthetic process IBA
Inferred from Biological aspect of Ancestor
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 IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
DDB1- and CUL4-associated factor 5
Names
WD repeat-containing protein 22
breakpoint cluster region protein, uterine leiomyoma, 2

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_001284206.1 → NP_001271135.1  DDB1- and CUL4-associated factor 5 isoform 2

    See identical proteins and their annotated locations for NP_001271135.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AK094283, BC013239, BC136632, BM681039, BX648006
    Consensus CDS
    CCDS61481.1
    UniProtKB/Swiss-Prot
    Q96JK2
    Related
    ENSP00000451845.1, ENST00000557386.5
    Conserved Domains (3) summary
    COG2319
    Location:16 → 360
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:105 → 139
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:49 → 360
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

  2. NM_001284207.1 → NP_001271136.1  DDB1- and CUL4-associated factor 5 isoform 3

    See identical proteins and their annotated locations for NP_001271136.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus than isoform 1.
    Source sequence(s)
    AB058727, AL831932, BC013239, BC136632, BM681039, BX648006
    Consensus CDS
    CCDS61480.1
    UniProtKB/Swiss-Prot
    Q96JK2
    Related
    ENSP00000451551.1, ENST00000554215.5
    Conserved Domains (3) summary
    COG2319
    Location:7 → 279
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:22 → 58
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:13 → 317
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

  3. NM_001284208.2 → NP_001271137.1  DDB1- and CUL4-associated factor 5 isoform 4

    See identical proteins and their annotated locations for NP_001271137.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) lacks multiple 3' exons and contains an alternate 3' exon, resulting in a distinct 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (4) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AK094283, BC022967, DB507867
    Consensus CDS
    CCDS73646.1
    UniProtKB/TrEMBL
    Q8TBB7
    Related
    ENSP00000374647.6, ENST00000389997.10
    Conserved Domains (2) summary
    sd00039
    Location:57 → 98
    7WD40; WD40 repeat [structural motif]
    cl29593
    Location:49 → 248
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

  4. NM_003861.3 → NP_003852.1  DDB1- and CUL4-associated factor 5 isoform 1

    See identical proteins and their annotated locations for NP_003852.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AB058727, AL391262, BC013239, BC136632, BX648006, DA058347, R41943
    Consensus CDS
    CCDS32106.1
    UniProtKB/Swiss-Prot
    B2RN31, G3V4J7, O60559, Q8N3V3, Q8N3V5, Q96JK2
    Related
    ENSP00000341351.5, ENST00000341516.10
    Conserved Domains (3) summary
    COG2319
    Location:16 → 361
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:57 → 98
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:49 → 361
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    69050881..69153197 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006720298.3 → XP_006720361.1  DDB1- and CUL4-associated factor 5 isoform X2

    Conserved Domains (3) summary
    COG2319
    Location:16 → 395
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:57 → 98
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:49 → 395
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

  2. XM_006720297.3 → XP_006720360.1  DDB1- and CUL4-associated factor 5 isoform X1

    Conserved Domains (3) summary
    COG2319
    Location:16 → 396
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:57 → 98
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:49 → 396
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

  3. XM_011537278.2 → XP_011535580.1  DDB1- and CUL4-associated factor 5 isoform X3

    See identical proteins and their annotated locations for XP_011535580.1

    Conserved Domains (3) summary
    COG2319
    Location:18 → 319
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:22 → 58
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:13 → 356
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

  4. XM_006720299.4 → XP_006720362.1  DDB1- and CUL4-associated factor 5 isoform X3

    See identical proteins and their annotated locations for XP_006720362.1

    Conserved Domains (3) summary
    COG2319
    Location:18 → 319
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:22 → 58
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:13 → 356
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

  5. XM_017021733.2 → XP_016877222.1  DDB1- and CUL4-associated factor 5 isoform X3

    Conserved Domains (3) summary
    COG2319
    Location:18 → 319
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:22 → 58
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:13 → 356
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

  6. XM_047431847.1 → XP_047287803.1  DDB1- and CUL4-associated factor 5 isoform X3

  7. XM_011537279.3 → XP_011535581.1  DDB1- and CUL4-associated factor 5 isoform X3

    See identical proteins and their annotated locations for XP_011535581.1

    Conserved Domains (3) summary
    COG2319
    Location:18 → 319
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:22 → 58
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:13 → 356
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

  8. XM_047431846.1 → XP_047287802.1  DDB1- and CUL4-associated factor 5 isoform X3

  9. XM_017021737.2 → XP_016877226.1  DDB1- and CUL4-associated factor 5 isoform X5

  10. XM_011537280.4 → XP_011535582.1  DDB1- and CUL4-associated factor 5 isoform X4

    Conserved Domains (1) summary
    cl02567
    Location:107 → 217
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    63263958..63366302 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054376868.1 → XP_054232843.1  DDB1- and CUL4-associated factor 5 isoform X2

  2. XM_054376867.1 → XP_054232842.1  DDB1- and CUL4-associated factor 5 isoform X1

  3. XM_054376873.1 → XP_054232848.1  DDB1- and CUL4-associated factor 5 isoform X3

  4. XM_054376869.1 → XP_054232844.1  DDB1- and CUL4-associated factor 5 isoform X3

  5. XM_054376870.1 → XP_054232845.1  DDB1- and CUL4-associated factor 5 isoform X3

  6. XM_054376872.1 → XP_054232847.1  DDB1- and CUL4-associated factor 5 isoform X3

  7. XM_054376871.1 → XP_054232846.1  DDB1- and CUL4-associated factor 5 isoform X3

  8. XM_054376874.1 → XP_054232849.1  DDB1- and CUL4-associated factor 5 isoform X3

  9. XM_054376876.1 → XP_054232851.1  DDB1- and CUL4-associated factor 5 isoform X5

  10. XM_054376875.1 → XP_054232850.1  DDB1- and CUL4-associated factor 5 isoform X4

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96JK2.2 GenPept UniProtKB/Swiss-Prot:Q96JK2

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