LOCUS       NM_025000               5853 bp    mRNA    linear   PRI 04-OCT-2024
DEFINITION  Homo sapiens DDB1 and CUL4 associated factor 17 (DCAF17),
            transcript variant 1, mRNA.
ACCESSION   NM_025000
VERSION     NM_025000.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5853)
  AUTHORS   Fozia,F., Shah,K., Nazli,R., Khan,S.A., Ahmad,I., Mohammad,N.,
            Khan,S. and Alotaibi,A.
  TITLE     Novel splicing-site mutation in DCAF17 gene causing
            Woodhouse-Sakati syndrome in a large consanguineous family
  JOURNAL   J Clin Lab Anal 36 (1), e24127 (2022)
   PUBMED   34877714
  REMARK    GeneRIF: Novel splicing-site mutation in DCAF17 gene causing
            Woodhouse-Sakati syndrome in a large consanguineous family.
REFERENCE   2  (bases 1 to 5853)
  AUTHORS   Alharbi,M.S.
  TITLE     Woodhouse-Sakati syndrome (WSS): A case report of 3 Saudi sisters
            with urogenital anomalies
  JOURNAL   Saudi Med J 42 (11), 1237-1242 (2021)
   PUBMED   34732557
  REMARK    GeneRIF: Woodhouse-Sakati syndrome (WSS): A case report of 3 Saudi
            sisters with urogenital anomalies.
REFERENCE   3  (bases 1 to 5853)
  AUTHORS   Shah,K., Jan,A., Ahmad,F., Basit,S., Ramzan,K. and Ahmad,W.
  TITLE     Woodhouse-Sakati syndrome in a family is associated with a
            homozygous start loss mutation in the DCAF17 gene
  JOURNAL   Clin Exp Dermatol 45 (2), 159-164 (2020)
   PUBMED   31323129
  REMARK    GeneRIF: 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.
REFERENCE   4  (bases 1 to 5853)
  AUTHORS   Almeqdadi,M., Kemppainen,J.L., Pichurin,P.N. and Gavrilova,R.H.
  TITLE     Phenotypic Variability of c.436delC DCAF17 Gene Mutation in
            Woodhouse-Sakati Syndrome
  JOURNAL   Am J Case Rep 19, 347-353 (2018)
   PUBMED   29574468
  REMARK    GeneRIF: The phenotypic variability of Woodhouse-Sakati syndrome
            due to c.436delC founder DCAF17 mutation may have a wider range
            than previously recognized.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 5853)
  AUTHORS   Alazami,A.M., Al-Saif,A., Al-Semari,A., Bohlega,S., Zlitni,S.,
            Alzahrani,F., Bavi,P., Kaya,N., Colak,D., Khalak,H., Baltus,A.,
            Peterlin,B., Danda,S., Bhatia,K.P., Schneider,S.A., Sakati,N.,
            Walsh,C.A., Al-Mohanna,F., Meyer,B. and Alkuraya,F.S.
  TITLE     Mutations in C2orf37, encoding a nucleolar protein, cause
            hypogonadism, alopecia, diabetes mellitus, mental retardation, and
            extrapyramidal syndrome
  JOURNAL   Am J Hum Genet 83 (6), 684-691 (2008)
   PUBMED   19026396
  REMARK    GeneRIF: Mutations in C2orf37, encoding a nucleolar protein, cause
            hypogonadism, alopecia, diabetes mellitus, mental retardation, and
            extrapyramidal syndrome.
REFERENCE   6  (bases 1 to 5853)
  AUTHORS   Lee,J. and Zhou,P.
  TITLE     DCAFs, the missing link of the CUL4-DDB1 ubiquitin ligase
  JOURNAL   Mol Cell 26 (6), 775-780 (2007)
   PUBMED   17588513
  REMARK    Review article
REFERENCE   7  (bases 1 to 5853)
  AUTHORS   Jin,J., Arias,E.E., Chen,J., Harper,J.W. and Walter,J.C.
  TITLE     A family of diverse Cul4-Ddb1-interacting proteins includes Cdt2,
            which is required for S phase destruction of the replication factor
            Cdt1
  JOURNAL   Mol Cell 23 (5), 709-721 (2006)
   PUBMED   16949367
REFERENCE   8  (bases 1 to 5853)
  AUTHORS   Bohlega,S.A. and Abusrair,A.
  TITLE     Woodhouse-Sakati Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   27489925
REFERENCE   9  (bases 1 to 5853)
  AUTHORS   Gregory,A. and Hayflick,S.
  TITLE     Neurodegeneration with Brain Iron Accumulation Disorders Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   23447832
REFERENCE   10 (bases 1 to 5853)
  AUTHORS   Klein,C., Lohmann,K., Marras,C. and Munchau,A.
  TITLE     Hereditary Dystonia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301334
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC007969.3, AK307877.1,
            BC140843.1 and BM676973.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_025000.3.
            
            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].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longer isoform (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: CR933646.1, SRR1660809.254534.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000375255.8/ ENSP00000364404.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-25                AC007969.3         137565-137589       c
            26-245              AK307877.1         1-220
            246-1369            BC140843.1         1-1124
            1370-1370           AC007969.3         97913-97913         c
            1371-2247           BC140843.1         1126-2002
            2248-5213           AC007969.3         87403-90368         c
            5214-5853           BM676973.1         15-654              c
FEATURES             Location/Qualifiers
     source          1..5853
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q31.1"
     gene            1..5853
                     /gene="DCAF17"
                     /gene_synonym="C20orf37; C2orf37"
                     /note="DDB1 and CUL4 associated factor 17"
                     /db_xref="GeneID:80067"
                     /db_xref="HGNC:HGNC:25784"
                     /db_xref="MIM:612515"
     exon            1..478
                     /gene="DCAF17"
                     /gene_synonym="C20orf37; C2orf37"
                     /inference="alignment:Splign:2.1.0"
     CDS             353..1915
                     /gene="DCAF17"
                     /gene_synonym="C20orf37; C2orf37"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /codon_start=1
                     /product="DDB1- and CUL4-associated factor 17 isoform 1"
                     /protein_id="NP_079276.2"
                     /db_xref="CCDS:CCDS2243.2"
                     /db_xref="GeneID:80067"
                     /db_xref="HGNC:HGNC:25784"
                     /db_xref="MIM:612515"
                     /translation="MGPTRKPNVCSRLSRRALGCFSRDAGVVQRTNLGILRALVCQES
                     TKFKNVWTTHSRSPIAYERGRIYFDNYRRCVSSVASEPRKLYEMPKCSKSEKIEDALL
                     WECPVGDILPNSSDYKSSLIALTAHNWLLRISATTGKILEKIYLAPYCKFRYLSWDTP
                     QEVIAVKSAQNRGSAVARQAGIQQHVLLYLAVFRVLPFSLVGILEINKKIFGNVTDAT
                     LSHGILIVMYSSGLVRLYSFQTIAEQFMQQKLDLGCACRWGGTTGTVGEAPFGIPCNI
                     KITDMPPLLFEVSSLENAFQIGGHPWHYIVTPNKKKQKGVFHICALKDNSLAKNGIQE
                     MDCCSLESDWIYFHPDASGRIIHVGPNQVKVLKLTEIENNSSQHQISEDFVILANREN
                     HKNENVLTVTASGRVVKKSFNLLDDDPEQETFKIVDYEDELDLLSVVAVTQIDAEGKA
                     HLDFHCNEYGTLLKSIPLVESWDVTYSHEVYFDRDLVLHIEQKPNRVFSCYVYQMICD
                     TGEEEETINRSC"
     exon            479..582
                     /gene="DCAF17"
                     /gene_synonym="C20orf37; C2orf37"
                     /inference="alignment:Splign:2.1.0"
     exon            583..673
                     /gene="DCAF17"
                     /gene_synonym="C20orf37; C2orf37"
                     /inference="alignment:Splign:2.1.0"
     exon            674..810
                     /gene="DCAF17"
                     /gene_synonym="C20orf37; C2orf37"
                     /inference="alignment:Splign:2.1.0"
     exon            811..889
                     /gene="DCAF17"
                     /gene_synonym="C20orf37; C2orf37"
                     /inference="alignment:Splign:2.1.0"
     exon            890..979
                     /gene="DCAF17"
                     /gene_synonym="C20orf37; C2orf37"
                     /inference="alignment:Splign:2.1.0"
     exon            980..1084
                     /gene="DCAF17"
                     /gene_synonym="C20orf37; C2orf37"
                     /inference="alignment:Splign:2.1.0"
     exon            1085..1190
                     /gene="DCAF17"
                     /gene_synonym="C20orf37; C2orf37"
                     /inference="alignment:Splign:2.1.0"
     exon            1191..1333
                     /gene="DCAF17"
                     /gene_synonym="C20orf37; C2orf37"
                     /inference="alignment:Splign:2.1.0"
     exon            1334..1443
                     /gene="DCAF17"
                     /gene_synonym="C20orf37; C2orf37"
                     /inference="alignment:Splign:2.1.0"
     exon            1444..1534
                     /gene="DCAF17"
                     /gene_synonym="C20orf37; C2orf37"
                     /inference="alignment:Splign:2.1.0"
     exon            1535..1618
                     /gene="DCAF17"
                     /gene_synonym="C20orf37; C2orf37"
                     /inference="alignment:Splign:2.1.0"
     exon            1619..1774
                     /gene="DCAF17"
                     /gene_synonym="C20orf37; C2orf37"
                     /inference="alignment:Splign:2.1.0"
     exon            1775..5853
                     /gene="DCAF17"
                     /gene_synonym="C20orf37; C2orf37"
                     /inference="alignment:Splign:2.1.0"
     regulatory      5824..5829
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DCAF17"
                     /gene_synonym="C20orf37; C2orf37"
                     /note="hexamer: AATAAA"
     polyA_site      5853
                     /gene="DCAF17"
                     /gene_synonym="C20orf37; C2orf37"
                     /note="major polyA site"
ORIGIN      
        1 gagaagccgg gctgcctcac gaggcactag gaactacatt tcccggtgag agagcggctc
       61 cggccggccg cgcggtaccg gagcgtcgca ctgtcagcgg ccagagagcc tggggcagat
      121 cgaaaaggga gtgcttcttc ccttctctcc gcgctctggc ggtgcaagcg gctctgcttt
      181 ccctcgcccc gccgtcgggt gctccctgcc cgcctccccg tgtcagcttt ccctgggccc
      241 cgccgggaaa gtctgggcct cgaaattcga aggcagcggc ggctgcccag cacgggagtg
      301 tggggcgcgc cactcggcgg cccagcctac ccagggcccg gcccgcgcct ccatgggccc
      361 gacccggaag cccaacgtgt gcagccggct gagtcgccgg gcgctgggct gcttctcgcg
      421 cgacgcaggc gtggtgcaga ggaccaacct gggcatcctg cgggcgctgg tgtgccagga
      481 aagtactaaa tttaagaatg tctggacaac tcattccagg tcacctatag cctatgagag
      541 aggaagaata tattttgaca attatcggcg ctgtgtcagc agtgttgcat ctgagccaag
      601 aaaactttat gaaatgccaa aatgttccaa atcagaaaaa atagaggatg ctttattatg
      661 ggaatgccca gtgggagata tacttcccaa ttcatcagat tataagtcct cactcatagc
      721 actgactgct cataattggc tacttcgtat atcagcaact acgggaaaaa tccttgagaa
      781 aatatatctt gcaccttatt gcaaattcag atacttgagc tgggacactc ctcaagaagt
      841 cattgcagtt aagtcagctc agaacagagg ctcagcagtg gcccggcagg caggcattca
      901 acaacatgtt ttgctgtacc ttgcagtgtt ccgagttcta cctttttcac ttgtagggat
      961 tctagagatc aacaaaaaga tttttgggaa cgttacagat gctaccttgt ctcatggaat
     1021 actgattgtg atgtacagct caggactggt cagactctat agcttccaaa ccatcgctga
     1081 acagttcatg caacagaaac ttgacttagg gtgtgcatgc agatggggtg ggactactgg
     1141 aactgtagga gaggctcctt ttggcattcc ttgtaatatt aaaatcacag acatgccacc
     1201 actgctcttt gaggtgtcat ccctggagaa tgcttttcag attggaggcc atccttggca
     1261 ctacatcgtc acacctaata agaagaaaca gaaaggagtt ttccatattt gtgccctaaa
     1321 agacaattcc ctggcaaaaa atgggatcca agaaatggat tgttgttctc tagaatctga
     1381 ctggatctat ttccatcctg atgcttctgg tagaataata catgttggtc caaatcaagt
     1441 caaagttttg aagctaactg aaatagaaaa taatagttct cagcatcaga tctctgaaga
     1501 ttttgtcatt ttggccaaca gggagaacca taaaaatgaa aatgtactca ctgttacagc
     1561 ttctggacgg gtggtaaaaa aaagttttaa ccttctggat gatgacccag aacaagagac
     1621 tttcaaaatt gtggactatg aagatgagtt agatttgctt tctgtggtag ctgttactca
     1681 aatagatgct gaaggaaaag ctcacctgga tttccactgt aatgaatatg gaactttact
     1741 taaaagcatt ccactagtgg agtcatggga tgtgacatat agccatgaag tctactttga
     1801 cagagacttg gtgctacaca tagagcagaa acccaacaga gtcttcagct gctatgttta
     1861 ccagatgata tgtgacactg gggaagaaga agaaaccata aacagaagct gttaaaaaga
     1921 gtgagataat tgtaacctaa gagactttta gccaaacacc ccagcagctg cgtccaatcc
     1981 attttattat ctgcatggca cattctccag tattttccaa aaaagtcttg tgttgacttc
     2041 agatgactat gacttctttt ttaaactctt gctgtaaaag atggtgagga cttcattttt
     2101 tttaaaggtt ttttagaata ctgttccaag aagtttagtg ttttgcagct ttgagctagg
     2161 tggtaatgca aatataaaat gctgggaaca gaaaaggaca ggttaattcc aattgttgag
     2221 gagttaagtc attgatgggg tgggtcattg atgagttctt aaaggatggt atggaatttt
     2281 gtttgttaag gctaggaaag acagggagag acaaaagtaa acatgcagaa agaaatctta
     2341 tatcctctat accaaacttt gcttaaggat gagaaatgag atgtgttatg tgagaacatt
     2401 attttgagcc caaaatgtgt catcacagtt tttaaaaatc ttatatatgt atttatatgt
     2461 gtttcgtatt tgtatatagt atcaggaatt ggttctagtt cccaaattat cttttcttcc
     2521 ttggttttgt tctcttggct tgatgttcac attgaatatt tgtgtttcta tataggctaa
     2581 tgtaaaagat tccaagcaaa ccttaagtga aattgttttc tgatttgcat cctgtttagc
     2641 tcttaatgta tctaaggatg ttctcatctc accattctac tcatttagtg agttttctga
     2701 tcttgtttag gcaatatttg catacttatg caataagata aaggtaccct tgcctgcagt
     2761 agttctgttt cctgtagaaa agtggataaa gagtcccaga agaagttctt actagcttgg
     2821 gagttacctg attaaccaga gaaaattttt ggcttactta tggaacaagc attatttctt
     2881 ctttgttagg aaagatctaa atatggtcct tgacttttaa taatcattct ttagaatgtt
     2941 aaataaaggc aacccaagta aagggagaaa atgtttcttt gtgcttcctg tttgagaaat
     3001 tcagttgctt ccatttcgca tgttctgcac atttatccga tgtaacctca aaagaataac
     3061 tggtaataag ggaaggaaac agcagcaaca atcattgctg attcaagttt aaggttaaaa
     3121 tatggaattt ttagcttgga tgatttatat taaaatcttt ccattttttt tttcagtttt
     3181 ggcttgatgc catgttaaga atgatgtgaa ttcttcccag ttctgccctg gtgctagaca
     3241 ttgccccata ctttcaatta gacactagct gtatctaaat agtcccactc agtaaactta
     3301 catcttgaaa aacaagacca gtaagaggcc agtgaaagta ctaaagaaag aaaccaatgt
     3361 tgtgtgagtt tcaaagcagc tgcaatgctg tgtaaaagta gagtgttcat tctccatttc
     3421 caagagtgtt tcagaatagg atgtcttaag acttcagtca tgtcagagat tttttttttt
     3481 aggtgattat tgagtttctc cttctccttt aagtcatcac cttcctttta tgaaatgata
     3541 gtaaggaact cgtctattct gaaaggcatt tgagaaatag ctgaattcct ggctgctttt
     3601 ttgctggggg tagatggtgg aatacttctg gtctagatat aacttaccac taagaaaccc
     3661 ccagtatgtc accactgcct aaatctaact agaccagggt ccaaatgcca tccaggccag
     3721 gcaggaaata tacctcatgt gaaagacagt aaggagttgt gggcagtgta acaaacagga
     3781 gagctatgcc ccaactaaaa ggagcagctg ctactgctta gtttcagcca gttgcaacag
     3841 tatgtgggaa tgtaggctgc atggttgtta acaagataga tggtaaaaag atgccagaag
     3901 atacagaaga tagcaaagaa tgtggggaat ttggatacca cacatagcga gagacaatga
     3961 agcatgcttc ccagctcgcc agagtgtcac acagctgctc attctgccac ctgccagaca
     4021 ttaatgtctt cctgccctac ctaaaccccc tctttacctg atattttaat tcgagactct
     4081 agctacatgc ccacctactt aacaggtact agtgacaggt acaaaacatt atgggtaaca
     4141 attctgagtg tttaatgcaa gcccaggtga agcagggtag cttccatcag caggtacaga
     4201 cgttacgctg aaaagaggtg cattctgcat tgcactcctg gatctaagtt tctgcattct
     4261 cagagcatca atgcagcaag cttattgttc ctcaattttt tacaatattt atcacaactc
     4321 tgggagaaaa caaaacaaat cctatcctat ttactatttg tgctacctag tgaggagata
     4381 ccgctctgtt tagacaaatt aaggcacttc acattcttcc accaattgaa agttttgtat
     4441 cttacagttc tttttttaaa taatatattt attgagcact ttctatctac tagtcactgt
     4501 gatacagtat aagtaaagtg ggttgtctca tttaatattc agaataacca catgaagtat
     4561 gaactgccat tatctttccc ctttgtacaa atgaggaaag tgaggctcac agaagttaat
     4621 tggcccaggg tcccacaact agtcagtgca gaggtgggaa acataaccag atttgttcgg
     4681 catgaacttg tgccaaattt cctccaaagt tctcaaaagg caaggcatgt tattttatcc
     4741 caatttagca taccaacaac tataatacta gatatgtagg aaagtgctta ataatcgttt
     4801 tttactgatg attcagtgtc taaattttga acaaatttgg gtaagataca agtcacacat
     4861 aaattgacag aaaatgtagt tcttcattca atggttagca gtcattaaaa ggtactttcc
     4921 ctttgtttgt ggtgataatc agtattagta gttttcatat tatttggctt ccatattaat
     4981 catttttata ttttcttctc cttcttacca tgtttactta tatcatccat cttttagaat
     5041 cccagggagc taatttctgg tccctgtgtt gctatcaaat ctgtatcttg cagaaagaat
     5101 aatttatttc aaacaaggga catacaatag aaagataaga cctactgagg tctttttccc
     5161 atcattttat tatgaaaaat gttcaaacat acagtaaaat tgaaagaatt ttatagtaaa
     5221 tactgaccac ggggattcta catcttactc tacttgtttt attattttcc tatccagcgt
     5281 actttttgat ggatttcaaa ataaattgca gttgctgata tacttccccc tagtacttca
     5341 actgcagatt attaactaga gtttagtatt tatttagttt ttaaattttt ttgatttaag
     5401 atttacctgc aataaaatgt acaaatctta agtataaatt tactgagttc ttgcagacat
     5461 atacacctgt gtaacccaaa ccctttccaa aatttagacc attgcaatca tcttcagaaa
     5521 gtttcctaaa tccctctccc agtctatccc ctccccaccc ctcaggtata actactgttc
     5581 tcattctttt atatcaaagg ttaaatttac ctgttctaaa cttcatatga gtgaaattat
     5641 acaaaatgta atgcttcttt cacttagcat aatgtttttg agatttattc atgttgttgc
     5701 atgtgtcagt gattcatttc tttttattgc tgagtattct ttcgtatgaa tatatcacag
     5761 tttgtttttt tatctttctg ttgatggaca ctgggctctt tctgcttgtt ttttactgtt
     5821 atgaataaag ctgctatgaa cattcttaga caa
//
