LOCUS       NM_004628               3650 bp    mRNA    linear   PRI 12-FEB-2025
DEFINITION  Homo sapiens XPC complex subunit, DNA damage recognition and repair
            factor (XPC), transcript variant 1, mRNA.
ACCESSION   NM_004628
VERSION     NM_004628.5
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 3650)
  AUTHORS   Imani,M.M., Akbari,S., Shalchi,M., Sadeghi,E. and Sadeghi,M.
  TITLE     Relationship between ERCC1 and XPC polymorphisms and the
            susceptibility to head and neck carcinoma: A systematic review,
            meta-analysis, and trial sequential analysis
  JOURNAL   Arch Oral Biol 162, 105955 (2024)
   PUBMED   38479279
  REMARK    GeneRIF: Relationship between ERCC1 and XPC polymorphisms and the
            susceptibility to head and neck carcinoma: A systematic review,
            meta-analysis, and trial sequential analysis.
            Review article
REFERENCE   2  (bases 1 to 3650)
  AUTHORS   Gudur,A.K., Kale,S.R., Gudur,R.A., Bhosale,S.J. and Datkhile,K.D.
  TITLE     Genetic Polymorphisms of XPC, XPD, XPG Genes and their Association
            with Radiotherapy Induced Toxicity among Head and Neck Cancer
            Patients: A Hospital Based Study from Maharashtra
  JOURNAL   Asian Pac J Cancer Prev 25 (1), 191-199 (2024)
   PUBMED   38285784
  REMARK    GeneRIF: Genetic Polymorphisms of XPC, XPD, XPG Genes and their
            Association with Radiotherapy Induced Toxicity among Head and Neck
            Cancer Patients: A Hospital Based Study from Maharashtra.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3650)
  AUTHORS   Almushawwah,S., Almutairi,M.H., Alamri,A.M. and Semlali,A.
  TITLE     A Significant Increasing Risk Association between Cigarette Smoking
            and XPA and XPC Genes Polymorphisms
  JOURNAL   Genes (Basel) 14 (7), 1349 (2023)
   PUBMED   37510255
  REMARK    GeneRIF: A Significant Increasing Risk Association between
            Cigarette Smoking and XPA and XPC Genes Polymorphisms.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3650)
  AUTHORS   Kim,J., Li,C.L., Chen,X., Cui,Y., Golebiowski,F.M., Wang,H.,
            Hanaoka,F., Sugasawa,K. and Yang,W.
  TITLE     Lesion recognition by XPC, TFIIH and XPA in DNA excision repair
  JOURNAL   Nature 617 (7959), 170-175 (2023)
   PUBMED   37076618
  REMARK    GeneRIF: Lesion recognition by XPC, TFIIH and XPA in DNA excision
            repair.
REFERENCE   5  (bases 1 to 3650)
  AUTHORS   Shivji,M.K., Eker,A.P. and Wood,R.D.
  TITLE     DNA repair defect in xeroderma pigmentosum group C and
            complementing factor from HeLa cells
  JOURNAL   J Biol Chem 269 (36), 22749-22757 (1994)
   PUBMED   8077226
REFERENCE   6  (bases 1 to 3650)
  AUTHORS   Legerski,R.J., Liu,P., Li,L., Peterson,C.A., Zhao,Y., Leach,R.J.,
            Naylor,S.L. and Siciliano,M.J.
  TITLE     Assignment of xeroderma pigmentosum group C (XPC) gene to
            chromosome 3p25
  JOURNAL   Genomics 21 (1), 266-269 (1994)
   PUBMED   8088800
REFERENCE   7  (bases 1 to 3650)
  AUTHORS   Masutani,C., Sugasawa,K., Yanagisawa,J., Sonoyama,T., Ui,M.,
            Enomoto,T., Takio,K., Tanaka,K., van der Spek,P.J., Bootsma,D. et
            al.
  TITLE     Purification and cloning of a nucleotide excision repair complex
            involving the xeroderma pigmentosum group C protein and a human
            homologue of yeast RAD23
  JOURNAL   EMBO J 13 (8), 1831-1843 (1994)
   PUBMED   8168482
REFERENCE   8  (bases 1 to 3650)
  AUTHORS   Kraemer,K.H., DiGiovanna,J.J. and Tamura,D.
  TITLE     Xeroderma Pigmentosum
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301571
REFERENCE   9  (bases 1 to 3650)
  AUTHORS   Legerski,R. and Peterson,C.
  TITLE     Expression cloning of a human DNA repair gene involved in xeroderma
            pigmentosum group C
  JOURNAL   Nature 360 (6404), 610 (1992)
   PUBMED   1461286
  REMARK    Correction to:[Nature. 1992 Sep 3;359(6390):70-3. doi:
            10.1038/359070a0.. PMID: 1522891]
REFERENCE   10 (bases 1 to 3650)
  AUTHORS   Legerski,R. and Peterson,C.
  TITLE     Expression cloning of a human DNA repair gene involved in xeroderma
            pigmentosum group C
  JOURNAL   Nature 359 (6390), 70-73 (1992)
   PUBMED   1522891
  REMARK    Erratum:[Nature. 1992 Dec 10;360(6404):610. doi: 10.1038/360610b0..
            PMID: 1461286]
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC093495.2, FJ695192.1 and
            FJ695191.1.
            
            On Nov 30, 2019 this sequence version replaced NM_004628.4.
            
            Summary: The protein encoded by this gene is a key component of the
            XPC complex, which plays an important role in the early steps of
            global genome nucleotide excision repair (NER). The encoded protein
            is important for damage sensing and DNA binding, and shows a
            preference for single-stranded DNA. Mutations in this gene or some
            other NER components can result in Xeroderma pigmentosum, a rare
            autosomal recessive disorder characterized by increased sensitivity
            to sunlight with the development of carcinomas at an early age.
            Alternatively spliced transcript variants have been found for this
            gene. [provided by RefSeq, Aug 2017].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            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 :: BC016620.1, D21089.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000285021.12/ ENSP00000285021.8
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-136               AC093495.2         81540-81675
            137-332             AC093495.2         87079-87274
            333-445             AC093495.2         89591-89703
            446-569             AC093495.2         91761-91884
            570-654             AC093495.2         92888-92972
            655-812             AC093495.2         94556-94713
            813-933             AC093495.2         95208-95328
            934-1023            AC093495.2         100311-100400
            1024-1348           AC093495.2         101249-101573
            1349-1631           FJ695192.1         1-283               c
            1632-1905           AC093495.2         101859-102132
            1906-2066           FJ695191.1         84-244              c
            2067-2148           AC093495.2         107728-107809
            2149-2283           AC093495.2         111196-111330
            2284-2453           AC093495.2         111413-111582
            2454-2547           AC093495.2         112143-112236
            2548-2637           AC093495.2         112765-112854
            2638-3650           AC093495.2         113985-114997
FEATURES             Location/Qualifiers
     source          1..3650
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p25.1"
     gene            1..3650
                     /gene="XPC"
                     /gene_synonym="p125; RAD4; XP3; XPCC"
                     /note="XPC complex subunit, DNA damage recognition and
                     repair factor"
                     /db_xref="GeneID:7508"
                     /db_xref="HGNC:HGNC:12816"
                     /db_xref="MIM:613208"
     exon            1..136
                     /gene="XPC"
                     /gene_synonym="p125; RAD4; XP3; XPCC"
                     /inference="alignment:Splign:2.1.0"
     CDS             34..2856
                     /gene="XPC"
                     /gene_synonym="p125; RAD4; XP3; XPCC"
                     /note="isoform 1 is encoded by transcript variant 1; DNA
                     repair protein complementing XP-C cells; mutant xeroderma
                     pigmentosum group C; xeroderma pigmentosum,
                     complementation group C"
                     /codon_start=1
                     /product="DNA repair protein complementing XP-C cells
                     isoform 1"
                     /protein_id="NP_004619.3"
                     /db_xref="CCDS:CCDS46763.1"
                     /db_xref="GeneID:7508"
                     /db_xref="HGNC:HGNC:12816"
                     /db_xref="MIM:613208"
                     /translation="MARKRAAGGEPRGRELRSQKSKAKSKARREEEEEDAFEDEKPPK
                     KSLLSKVSQGKRKRGCSHPGGSADGPAKKKVAKVTVKSENLKVIKDEALSDGDDLRDF
                     PSDLKKAHHLKRGATMNEDSNEEEEESENDWEEVEELSEPVLGDVRESTAFSRSLLPV
                     KPVEIEIETPEQAKTRERSEKIKLEFETYLRRAMKRFNKGVHEDTHKVHLLCLLANGF
                     YRNNICSQPDLHAIGLSIIPARFTRVLPRDVDTYYLSNLVKWFIGTFTVNAELSASEQ
                     DNLQTTLERRFAIYSARDDEELVHIFLLILRALQLLTRLVLSLQPIPLKSATAKGKKP
                     SKERLTADPGGSSETSSQVLENHTKPKTSKGTKQEETFAKGTCRPSAKGKRNKGGRKK
                     RSKPSSSEEDEGPGDKQEKATQRRPHGRERRVASRVSYKEESGSDEAGSGSDFELSSG
                     EASDPSDEDSEPGPPKQRKAPAPQRTKAGSKSASRTHRGSHRKDPSLPAASSSSSSSK
                     RGKKMCSDGEKAEKRSIAGIDQWLEVFCEQEEKWVCVDCVHGVVGQPLTCYKYATKPM
                     TYVVGIDSDGWVRDVTQRYDPVWMTVTRKCRVDAEWWAETLRPYQSPFMDREKKEDLE
                     FQAKHMDQPLPTAIGLYKNHPLYALKRHLLKYEAIYPETAAILGYCRGEAVYSRDCVH
                     TLHSRDTWLKKARVVRLGEVPYKMVKGFSNRARKARLAEPQLREENDLGLFGYWQTEE
                     YQPPVAVDGKVPRNEFGNVYLFLPSMMPIGCVQLNLPNLHRVARKLDIDCVQAITGFD
                     FHGGYSHPVTDGYIVCEEFKDVLLTAWENEQAVIERKEKEKKEKRALGNWKLLAKGLL
                     IRERLKRRYGPKSEAAAPHTDAGGGLSSDEEEGTSSQAEAARILAASWPQNREDEEKQ
                     KLKGGPKKTKREKKAAASHLFPFEQL"
     exon            137..332
                     /gene="XPC"
                     /gene_synonym="p125; RAD4; XP3; XPCC"
                     /inference="alignment:Splign:2.1.0"
     exon            333..445
                     /gene="XPC"
                     /gene_synonym="p125; RAD4; XP3; XPCC"
                     /inference="alignment:Splign:2.1.0"
     exon            446..569
                     /gene="XPC"
                     /gene_synonym="p125; RAD4; XP3; XPCC"
                     /inference="alignment:Splign:2.1.0"
     exon            570..654
                     /gene="XPC"
                     /gene_synonym="p125; RAD4; XP3; XPCC"
                     /inference="alignment:Splign:2.1.0"
     exon            655..812
                     /gene="XPC"
                     /gene_synonym="p125; RAD4; XP3; XPCC"
                     /inference="alignment:Splign:2.1.0"
     exon            813..933
                     /gene="XPC"
                     /gene_synonym="p125; RAD4; XP3; XPCC"
                     /inference="alignment:Splign:2.1.0"
     exon            934..1023
                     /gene="XPC"
                     /gene_synonym="p125; RAD4; XP3; XPCC"
                     /inference="alignment:Splign:2.1.0"
     exon            1024..1905
                     /gene="XPC"
                     /gene_synonym="p125; RAD4; XP3; XPCC"
                     /inference="alignment:Splign:2.1.0"
     exon            1906..2066
                     /gene="XPC"
                     /gene_synonym="p125; RAD4; XP3; XPCC"
                     /inference="alignment:Splign:2.1.0"
     exon            2067..2148
                     /gene="XPC"
                     /gene_synonym="p125; RAD4; XP3; XPCC"
                     /inference="alignment:Splign:2.1.0"
     exon            2149..2283
                     /gene="XPC"
                     /gene_synonym="p125; RAD4; XP3; XPCC"
                     /inference="alignment:Splign:2.1.0"
     exon            2284..2453
                     /gene="XPC"
                     /gene_synonym="p125; RAD4; XP3; XPCC"
                     /inference="alignment:Splign:2.1.0"
     exon            2454..2547
                     /gene="XPC"
                     /gene_synonym="p125; RAD4; XP3; XPCC"
                     /inference="alignment:Splign:2.1.0"
     exon            2548..2637
                     /gene="XPC"
                     /gene_synonym="p125; RAD4; XP3; XPCC"
                     /inference="alignment:Splign:2.1.0"
     exon            2638..3650
                     /gene="XPC"
                     /gene_synonym="p125; RAD4; XP3; XPCC"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3632..3637
                     /regulatory_class="polyA_signal_sequence"
                     /gene="XPC"
                     /gene_synonym="p125; RAD4; XP3; XPCC"
                     /note="hexamer: AATAAA"
     polyA_site      3650
                     /gene="XPC"
                     /gene_synonym="p125; RAD4; XP3; XPCC"
                     /note="major polyA site"
ORIGIN      
        1 actcgcgaag tggaatttgc ccagacaagc aacatggctc ggaaacgcgc ggccggcggg
       61 gagccgcggg gacgcgaact gcgcagccag aaatccaagg ccaagagcaa ggcccggcgt
      121 gaggaggagg aggaggatgc ctttgaagat gagaaacccc caaagaagag ccttctctcc
      181 aaagtttcac aaggaaagag gaaaagaggc tgcagtcatc ctgggggttc agcagatggt
      241 ccagcaaaaa agaaagtggc caaggtgact gttaaatctg aaaacctcaa ggttataaag
      301 gatgaagccc tcagcgatgg ggatgacctc agggactttc caagtgacct caagaaggca
      361 caccatctga agagaggggc taccatgaat gaagacagca atgaagaaga ggaagaaagt
      421 gaaaatgatt gggaagaggt tgaagaactt agtgagcctg tgctgggtga cgtgagagaa
      481 agtacagcct tctctcgatc tcttctgcct gtgaagccag tggagataga gattgaaacg
      541 ccagagcagg cgaagacaag agaaagaagt gaaaagataa aactggagtt tgagacatat
      601 cttcggaggg cgatgaaacg tttcaataaa ggggtccatg aggacacaca caaggttcac
      661 cttctctgcc tgctagcaaa tggcttctat cgaaataaca tctgcagcca gccagatctg
      721 catgctattg gcctgtccat catcccagcc cgctttacca gagtgctgcc tcgagatgtg
      781 gacacctact acctctcaaa cctggtgaag tggttcattg gaacatttac agttaatgca
      841 gaactttcag ccagtgaaca agataacctg cagactacat tggaaaggag atttgctatt
      901 tactctgctc gagatgatga ggaattggtc catatattct tactgattct ccgggctctg
      961 cagctcttga cccggctggt attgtctcta cagccaattc ctctgaagtc agcaacagca
     1021 aagggaaaga aaccttccaa ggaaagattg actgcggatc caggaggctc ctcagaaact
     1081 tccagccaag ttctagaaaa ccacaccaaa ccaaagacca gcaaaggaac caaacaagag
     1141 gaaacctttg ctaagggcac ctgcaggcca agtgccaaag ggaagaggaa caagggaggc
     1201 agaaagaaac ggagcaagcc ctcctccagc gaggaagatg agggcccagg agacaagcag
     1261 gagaaggcaa cccagcgacg tccgcatggc cgggagcggc gggtggcctc cagggtgtct
     1321 tataaagagg agagtgggag tgatgaggct ggcagcggct ctgattttga gctctccagt
     1381 ggagaagcct ctgatccctc tgatgaggat tccgaacctg gccctccaaa gcagaggaaa
     1441 gcccccgctc ctcagaggac aaaggctggg tccaagagtg cctccaggac ccatcgtggg
     1501 agccatcgta aggacccaag cttgccagcg gcatcctcaa gctcttcaag cagtaaaaga
     1561 ggcaagaaaa tgtgcagcga tggtgagaag gcagaaaaaa gaagcatagc tggtatagac
     1621 cagtggctag aggtgttctg tgagcaggag gaaaagtggg tatgtgtaga ctgtgtgcac
     1681 ggtgtggtgg gccagcctct gacctgttac aagtacgcca ccaagcccat gacctatgtg
     1741 gtgggcattg acagtgacgg ctgggtccga gatgtcacac agaggtacga cccagtctgg
     1801 atgacagtga cccgcaagtg ccgggttgat gctgagtggt gggccgagac cttgagacca
     1861 taccagagcc catttatgga cagggagaag aaagaagact tggagtttca ggctaaacac
     1921 atggaccagc ctttgcccac tgccattggc ttatataaga accaccctct gtatgccctg
     1981 aagcggcatc tcctgaaata tgaggccatc tatcccgaga cagctgccat ccttgggtat
     2041 tgtcgtggag aagcggtcta ctccagggat tgtgtgcaca ctctgcattc cagggacacg
     2101 tggctgaaga aagcaagagt ggtgaggctt ggagaagtac cctacaagat ggtgaaaggc
     2161 ttttctaacc gtgctcggaa agcccgactt gctgagcccc agctgcggga agaaaatgac
     2221 ctgggcctgt ttggctactg gcagacagag gagtatcagc ccccagtggc cgtggacggg
     2281 aaggtgcccc ggaacgagtt tgggaatgtg tacctcttcc tgcccagcat gatgcctatt
     2341 ggctgtgtcc agctgaacct gcccaatcta caccgcgtgg cccgcaagct ggacatcgac
     2401 tgtgtccagg ccatcactgg ctttgatttc catggcggct actcccatcc cgtgactgat
     2461 ggatacatcg tctgcgagga attcaaagac gtgctcctga ctgcctggga aaatgagcag
     2521 gcagtcattg aaaggaagga gaaggagaaa aaggagaagc gggctctagg gaactggaag
     2581 ttgctggcca aaggtctgct catcagggag aggctgaagc gtcgctacgg gcccaagagt
     2641 gaggcagcag ctccccacac agatgcagga ggtggactct cttctgatga agaggagggg
     2701 accagctctc aagcagaagc ggccaggata ctggctgcct cctggcctca aaaccgagaa
     2761 gatgaagaaa agcagaagct gaagggtggg cccaagaaga ccaaaaggga aaagaaagca
     2821 gcagcttccc acctgttccc atttgagcag ctgtgagctg agcgcccact agaggggcac
     2881 ccaccagttg ctgctgcccc actacaggcc ccacacctgc cctgggcatg cccagcccct
     2941 ggtggtgggg gcttctctgc tgagaaggca aactgaggca gcatgcacgg aggcggggtc
     3001 aggggagacg aggccaagct gaggaggtgc tgcaggtccc gtctggctcc agcccttgtc
     3061 agattcaccc agggtgaagc cttcaaagct ttttgctacc aaagcccact caccctttga
     3121 gctacagaac actttgctag gagatactct tctgcctcct agacctgttc tttccatctt
     3181 tagaaacatc agtttttgta tggaagccac cgggagattt ctggatggtg gtgcatccgt
     3241 gaatgcgctg atcgtttctt ccagttagag tcttcatctg tccgacaagt tcactcgcct
     3301 cggttgcgga cctaggacca tttctctgca ggccacttac cttcccctga gtcaggctta
     3361 ctaatgctgc cctcactgcc tctttgcagt aggggagaga gcagagaagt acaggtcatc
     3421 tgctgggatc tagttttcca agtaacattt tgtggtgaca gaagcctaaa aaaagctaaa
     3481 atcaggaaag aaaaggaaaa atacgaattg aaaattaagg aaatgttagt aaaatagatg
     3541 agtgttaaac tagattgtat tcattactag ataaaatgta taaagctctc tgtactaagg
     3601 agaaatgact tttataacat tttgagaaaa taataaagca tttatctaaa
//
