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    DCAF15 DDB1 and CUL4 associated factor 15 [ Homo sapiens (human) ]

    Gene ID: 90379, updated on 27-Nov-2024

    Summary

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    Official Symbol
    DCAF15provided by HGNC
    Official Full Name
    DDB1 and CUL4 associated factor 15provided by HGNC
    Primary source
    HGNC:HGNC:25095
    See related
    Ensembl:ENSG00000132017 MIM:620109; AllianceGenome:HGNC:25095
    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
    C19orf72
    Summary
    Enables small molecule binding activity. Involved in protein polyubiquitination and regulation of natural killer cell activation. Part of Cul4-RING E3 ubiquitin ligase complex. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in testis (RPKM 20.9), bone marrow (RPKM 11.3) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DCAF15 in Genome Data Viewer
    Location:
    19p13.12
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (13952509..13961449)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (14078793..14087733)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (14063321..14072261)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:13993737-13994582 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:14000391-14000892 Neighboring gene break repair meiotic recombinase recruitment factor 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10218 Neighboring gene coiled-coil and C2 domain containing 1A Neighboring gene MPRA-validated peak3378 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:14046993-14047750 Neighboring gene podocan like 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14150 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10219 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:14069830-14070403 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:14070404-14070976 Neighboring gene regulatory factor X1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:14090312-14090838 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:14090839-14091365 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:14091366-14091891 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:14093768-14094294 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:14096053-14096944 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14151 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:14097836-14098726 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:14116358-14116886 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:14116887-14117414 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:14117415-14117942 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:14134324-14134824 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:14134825-14135325 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14152 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10222 Neighboring gene relaxin 3

    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. DCAF15 control of cohesin dynamics sustains acute myeloid leukemia. Grothusen GP, et al. Nat Commun, 2024 Jul 3. PMID 38961054, Free PMC Article
    2. In vivo target protein degradation induced by PROTACs based on E3 ligase DCAF15. Li L, et al. Signal Transduct Target Ther, 2020 Jul 27. PMID 32713946, Free PMC Article
    3. pSILAC method coupled with two complementary digestion approaches reveals PRPF39 as a new E7070-dependent DCAF15 substrate. Jia X, et al. J Proteomics, 2020 Jan 6. PMID 31626998
    4. The aryl sulfonamide indisulam inhibits gastric cancer cell migration by promoting the ubiquitination and degradation of the transcription factor ZEB1. Lu J, et al. J Biol Chem, 2023 Apr. PMID 36805336, Free PMC Article
    5. Structural basis of indisulam-mediated RBM39 recruitment to DCAF15 E3 ligase complex. Bussiere DE, et al. Nat Chem Biol, 2020 Jan. PMID 31819272

    See all (31) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. DCAF15 control of cohesin dynamics sustains acute myeloid leukemia.
      Title: DCAF15 control of cohesin dynamics sustains acute myeloid leukemia.
    2. In vivo target protein degradation induced by PROTACs based on E3 ligase DCAF15.
      Title: In vivo target protein degradation induced by PROTACs based on E3 ligase DCAF15.
    3. Targeting the E3 ubiquitin ligases DCAF15 and cereblon for cancer therapy.
      Title: Targeting the E3 ubiquitin ligases DCAF15 and cereblon for cancer therapy.
    4. Tumor suppressor DCAF15 inhibits epithelial-mesenchymal transition by targeting ZEB1 for proteasomal degradation in hepatocellular carcinoma.
      Title: Tumor suppressor DCAF15 inhibits epithelial-mesenchymal transition by targeting ZEB1 for proteasomal degradation in hepatocellular carcinoma.
    5. aryl-sulfonamides neo-functionalize a shallow, non-conserved pocket on DCAF15 to selectively bind and degrade RBM39 and the closely related splicing factor RBM23 without the requirement for a high-affinity ligand
      Title: Structural complementarity facilitates E7820-mediated degradation of RBM39 by DCAF15.
    6. structural and mutational analysis of how indisulam mediates the DCAF15-RBM39 interaction
      Title: Structural basis of indisulam-mediated RBM39 recruitment to DCAF15 E3 ligase complex.
    7. DCAF15 expression may be a useful biomarker to guide clinical trials of splicing inhibitor sulfonamides(SPLAMs).
      Title: Anticancer sulfonamides target splicing by inducing RBM39 degradation via recruitment to DCAF15.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC99481

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables small molecule binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in immune system process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein polyubiquitination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein ubiquitination IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of natural killer cell activation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    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 

    General protein information

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    Preferred Names
    DDB1- and CUL4-associated factor 15

    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_001393637.1 → NP_001380566.1  DDB1- and CUL4-associated factor 15 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC020916
      Conserved Domains (1) summary
      PHA03247
      Location:273 → 380
      PHA03247; large tegument protein UL36; Provisional

    2. NM_001393638.1 → NP_001380567.1  DDB1- and CUL4-associated factor 15 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC020916
      Conserved Domains (1) summary
      PHA03247
      Location:274 → 381
      PHA03247; large tegument protein UL36; Provisional

    3. NM_001393639.1 → NP_001380568.1  DDB1- and CUL4-associated factor 15 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC020916
      Conserved Domains (1) summary
      PHA03247
      Location:274 → 381
      PHA03247; large tegument protein UL36; Provisional

    4. NM_001393640.1 → NP_001380569.1  DDB1- and CUL4-associated factor 15 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC020916
      Conserved Domains (1) summary
      PHA03247
      Location:262 → 369
      PHA03247; large tegument protein UL36; Provisional

    5. NM_001393641.1 → NP_001380570.1  DDB1- and CUL4-associated factor 15 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC020916
      Conserved Domains (1) summary
      PHA03247
      Location:255 → 362
      PHA03247; large tegument protein UL36; Provisional

    6. NM_001393642.1 → NP_001380571.1  DDB1- and CUL4-associated factor 15 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC020916
      Conserved Domains (1) summary
      PHA03247
      Location:274 → 381
      PHA03247; large tegument protein UL36; Provisional

    7. NM_001393643.1 → NP_001380572.1  DDB1- and CUL4-associated factor 15 isoform 8

      Status: VALIDATED

      Source sequence(s)
      AC020916
      Conserved Domains (1) summary
      PHA03247
      Location:164 → 271
      PHA03247; large tegument protein UL36; Provisional

    8. NM_001393644.1 → NP_001380573.1  DDB1- and CUL4-associated factor 15 isoform 9

      Status: VALIDATED

      Source sequence(s)
      AC020916
      Conserved Domains (1) summary
      PHA03247
      Location:158 → 265
      PHA03247; large tegument protein UL36; Provisional

    9. NM_138353.4 → NP_612362.2  DDB1- and CUL4-associated factor 15 isoform 1

      See identical proteins and their annotated locations for NP_612362.2

      Status: VALIDATED

      Source sequence(s)
      AC020916
      Consensus CDS
      CCDS32926.1
      UniProtKB/Swiss-Prot
      B3KS86, Q66K64, Q96DW0, Q9BU31
      Related
      ENSP00000254337.5, ENST00000254337.11
      Conserved Domains (2) summary
      pfam14939
      Location:51 → 259
      DCAF15_WD40; DDB1-and CUL4-substrate receptor 15, WD repeat
      cl26464
      Location:274 → 381
      Atrophin-1; Atrophin-1 family

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      13952509..13961449
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_021160022.1 Reference GRCh38.p14 PATCHES

      Range
      164350..173290
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      14078793..14087733
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q66K64.1 GenPept UniProtKB/Swiss-Prot:Q66K64

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools