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

    Gene ID: 8816, updated on 2-Nov-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 negative regulation of fatty acid biosynthetic process. Part of Cul4-RING E3 ubiquitin ligase complex. [provided by Alliance of Genome Resources, Nov 2024]
    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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    See DCAF5 in Genome Data Viewer
    Location:
    14q24.1
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (69050881..69153197, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (63263958..63366302, complement)
    RS_2024_09 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 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. Targeting DCAF5 suppresses SMARCB1-mutant cancer by stabilizing SWI/SNF. Radko-Juettner S, et al. Nature, 2024 Apr. PMID 38538798,
    3. 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
    4. A promiscuous alpha-helical motif anchors viral hijackers and substrate receptors to the CUL4-DDB1 ubiquitin ligase machinery. Li T, et al. Nat Struct Mol Biol, 2010 Jan. PMID 19966799, Free PMC Article
    5. SIRT7 deacetylates DDB1 and suppresses the activity of the CRL4 E3 ligase complexes. Mo Y, et al. FEBS J, 2017 Nov. PMID 28886238

    See all (52) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Targeting DCAF5 suppresses SMARCB1-mutant cancer by stabilizing SWI/SNF.
      Title: Targeting DCAF5 suppresses SMARCB1-mutant cancer by stabilizing SWI/SNF.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    3. 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 Variation Viewer (GRCh37.p13)

    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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    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.

    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_2024_08

    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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