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

    Gene ID: 80067, updated on 27-Nov-2024

    Summary

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    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
    mouse all
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    Genomic context

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    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

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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. C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients. Alazami AM, et al. Clin Genet, 2010 Dec. PMID 20507343
    2. A novel splice site mutation in gene C2orf37 underlying Woodhouse-Sakati syndrome (WSS) in a consanguineous family of Pakistani origin. Habib R, et al. Gene, 2011 Dec 15. PMID 21963443
    3. Phenotypic heterogeneity in Woodhouse-Sakati syndrome: two new families with a mutation in the C2orf37 gene. Ben-Omran T, et al. Am J Med Genet A, 2011 Nov. PMID 21964978, Free PMC Article
    4. Alopecia and hypotrichosis as characteristic findings in Woodhouse-Sakati syndrome: report of a family with mutation in the C2orf37 gene. Nanda A, et al. Pediatr Dermatol, 2014 Jan-Feb. PMID 24015686
    5. Woodhouse-Sakati syndrome in an Israeli-Arab family presenting with youth-onset diabetes mellitus and delayed puberty. Rachmiel M, et al. Horm Res Paediatr, 2011. PMID 21304230

    See all (34) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Novel splicing-site mutation in DCAF17 gene causing Woodhouse-Sakati syndrome in a large consanguineous family.
      Title: Novel splicing-site mutation in DCAF17 gene causing Woodhouse-Sakati syndrome in a large consanguineous family.
    2. Woodhouse-Sakati syndrome (WSS): A case report of 3 Saudi sisters with urogenital anomalies.
      Title: Woodhouse-Sakati syndrome (WSS): A case report of 3 Saudi sisters with urogenital anomalies.
    3. Analysis of the exome data revealed a start loss sequence variant (c.1A>G, p.M1?) in DCAF17 in a Pakastani family with Woodhouse-Sakati syndrome. This variant is predicted to abolish translation of the DCAF17 polypeptide. To our knowledge, this is the first start loss variant identified in the DCAF17.
      Title: Woodhouse-Sakati syndrome in a family is associated with a homozygous start loss mutation in the DCAF17 gene.
    4. Exome sequencing in 5 women with syndromic hypergonadotropic hypogonadism from 2 unrelated families revealed novel pathogenic variants in the DCAF17 gene. DCAF17 exon 2 (c.127-1G > C) novel homozygous variants were discovered in 4 Turkish siblings, while 1 American was compound heterozygous for 1-stop gain variant in exon 5 (c.C535T; p.Gln179*) and previously described stop gain variant in exon 9 (c.G906A; p.Trp302*).
      Title: Novel inactivating mutations of the DCAF17 gene in American and Turkish families cause male infertility and female subfertility in the mouse model.
    5. The phenotypic variability of Woodhouse-Sakati syndrome due to c.436delC founder DCAF17 mutation may have a wider range than previously recognized.
      Title: Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome.
    6. This signifies the vital yet unexplored role of DCAF17 both in development and maintenance of adult tissues homeostasis.
      Title: Exome sequencing revealed a novel biallelic deletion in the DCAF17 gene underlying Woodhouse Sakati syndrome.
    7. two novel frameshift mutations in C2orf37 present in the compound heterozygous state in an Indian family with Woodhouse-Sakati syndrome, is reported.
      Title: Novel compound heterozygous frameshift mutations of C2orf37 in a familial Indian case of Woodhouse-Sakati syndrome.
    8. Direct sequencing of the C2orf37 gene revealed that the c.436delC (p.Ala147Hisfs*9) mutation was present in a homozygous state in all affected siblings and in a heterozygous state in the parents and a healthy sister.
      Title: Alopecia and hypotrichosis as characteristic findings in Woodhouse-Sakati syndrome: report of a family with mutation in the C2orf37 gene.
    9. The results of this study demonistrated that the syndrome of deafness-dystonia is cause by mutation of DCAF17.
      Title: The syndrome of deafness-dystonia: clinical and genetic heterogeneity.
    10. Pakistani family with clinical manifestations of Woodhouse-Sakati Syndrome; DNA sequence analysis revealed a novel splice site mutation (c.321 + 1 G > A) in the gene C2orf37, mapped on chromosomes 2q22.3-2q35
      Title: A novel splice site mutation in gene C2orf37 underlying Woodhouse-Sakati syndrome (WSS) in a consanguineous family of Pakistani origin.
    Submit: New GeneRIF Correction See all GeneRIFs (14)

    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)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    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
    		  
    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

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    Preferred Names
    DDB1- and CUL4-associated factor 17

    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.

    Genomic

    1. NG_013038.2 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_001164821.2 → NP_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:31 → 438
      DCAF17; DDB1- and CUL4-associated factor 17

    2. NM_025000.4 → NP_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:31 → 505
      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_011511881.2 → XP_011510183.1  DDB1- and CUL4-associated factor 17 isoform X1

      Conserved Domains (1) summary
      pfam15802
      Location:31 → 494
      DCAF17; DDB1- and CUL4-associated factor 17

    2. XM_047445911.1 → XP_047301867.1  DDB1- and CUL4-associated factor 17 isoform X3

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

      Conserved Domains (1) summary
      pfam15802
      Location:31 → 484
      DCAF17; DDB1- and CUL4-associated factor 17

    4. XM_047445912.1 → XP_047301868.1  DDB1- and CUL4-associated factor 17 isoform X5

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

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

      Conserved Domains (1) summary
      pfam15802
      Location:31 → 244
      DCAF17; DDB1- and CUL4-associated factor 17

    7. XM_017004996.2 → XP_016860485.1  DDB1- and CUL4-associated factor 17 isoform X6

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

      Conserved Domains (1) summary
      pfam15802
      Location:31 → 244
      DCAF17; DDB1- and CUL4-associated factor 17

    9. XM_006712768.2 → XP_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:1 → 418
      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_054344014.1 → XP_054199989.1  DDB1- and CUL4-associated factor 17 isoform X1

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

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

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

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

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

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

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

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

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

    11. XM_054344021.1 → XP_054199996.1  DDB1- and CUL4-associated factor 17 isoform X8

    RNA

    1. XR_008486529.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5H9S7.1 GenPept UniProtKB/Swiss-Prot:Q5H9S7

    Gene LinkOut

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

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