LOCUS       NM_000380               1400 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens XPA, DNA damage recognition and repair factor (XPA),
            transcript variant 1, mRNA.
ACCESSION   NM_000380
VERSION     NM_000380.4
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 1400)
  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   2  (bases 1 to 1400)
  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   3  (bases 1 to 1400)
  AUTHORS   van den Heuvel,D., Kim,M., Wondergem,A.P., van der Meer,P.J.,
            Witkamp,M., Lambregtse,F., Kim,H.S., Kan,F., Apelt,K., Kragten,A.,
            Gonzalez-Prieto,R., Vertegaal,A.C.O., Yeo,J.E., Kim,B.G., van
            Doorn,R., Scharer,O.D. and Luijsterburg,M.S.
  TITLE     A disease-associated XPA allele interferes with TFIIH binding and
            primarily affects transcription-coupled nucleotide excision repair
  JOURNAL   Proc Natl Acad Sci U S A 120 (11), e2208860120 (2023)
   PUBMED   36893274
  REMARK    GeneRIF: A disease-associated XPA allele interferes with TFIIH
            binding and primarily affects transcription-coupled nucleotide
            excision repair.
REFERENCE   4  (bases 1 to 1400)
  AUTHORS   Banicka,V., Martens,M.C., Panzer,R., Schrama,D., Emmert,S.,
            Boeckmann,L. and Thiem,A.
  TITLE     Homozygous CRISPR/Cas9 Knockout Generated a Novel Functionally
            Active Exon 1 Skipping XPA Variant in Melanoma Cells
  JOURNAL   Int J Mol Sci 23 (19), 11649 (2022)
   PUBMED   36232946
  REMARK    GeneRIF: Homozygous CRISPR/Cas9 Knockout Generated a Novel
            Functionally Active Exon 1 Skipping XPA Variant in Melanoma Cells.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1400)
  AUTHORS   Sugitani,N., Sivley,R.M., Perry,K.E., Capra,J.A. and Chazin,W.J.
  TITLE     XPA: A key scaffold for human nucleotide excision repair
  JOURNAL   DNA Repair (Amst) 44, 123-135 (2016)
   PUBMED   27247238
  REMARK    GeneRIF: XPA is a key scaffold protein for human nucleotide
            excision repair. (Review)
            Review article
REFERENCE   6  (bases 1 to 1400)
  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   7  (bases 1 to 1400)
  AUTHORS   Miyamoto,I., Miura,N., Niwa,H., Miyazaki,J. and Tanaka,K.
  TITLE     Mutational analysis of the structure and function of the xeroderma
            pigmentosum group A complementing protein. Identification of
            essential domains for nuclear localization and DNA excision repair
  JOURNAL   J Biol Chem 267 (17), 12182-12187 (1992)
   PUBMED   1601884
REFERENCE   8  (bases 1 to 1400)
  AUTHORS   Satokata,I., Tanaka,K., Yuba,S. and Okada,Y.
  TITLE     Identification of splicing mutations of the last nucleotides of
            exons, a nonsense mutation, and a missense mutation of the XPAC
            gene as causes of group A xeroderma pigmentosum
  JOURNAL   Mutat Res 273 (2), 203-212 (1992)
   PUBMED   1372103
REFERENCE   9  (bases 1 to 1400)
  AUTHORS   Satokata,I., Tanaka,K. and Okada,Y.
  TITLE     Molecular basis of group A xeroderma pigmentosum: a missense
            mutation and two deletions located in a zinc finger consensus
            sequence of the XPAC gene
  JOURNAL   Hum Genet 88 (6), 603-607 (1992)
   PUBMED   1339397
REFERENCE   10 (bases 1 to 1400)
  AUTHORS   Satokata,I., Tanaka,K., Miura,N., Miyamoto,I., Satoh,Y., Kondo,S.
            and Okada,Y.
  TITLE     Characterization of a splicing mutation in group A xeroderma
            pigmentosum
  JOURNAL   Proc Natl Acad Sci U S A 87 (24), 9908-9912 (1990)
   PUBMED   1702221
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CB155090.1 and BC014965.1.
            
            On Nov 30, 2019 this sequence version replaced NM_000380.3.
            
            Summary: This gene encodes a zinc finger protein plays a central
            role in nucleotide excision repair (NER), a specialized type of DNA
            repair. NER is responsible for repair of UV radiation-induced
            photoproducts and DNA adducts induced by chemical carcinogens and
            chemotherapeutic drugs. The encoded protein interacts with DNA and
            several NER proteins, acting as a scaffold to assemble the NER
            incision complex at sites of DNA damage. Mutations in this gene
            cause Xeroderma pigmentosum complementation group A (XP-A), an
            autosomal recessive skin disorder featuring hypersensitivity to
            sunlight and increased risk for skin cancer. [provided by RefSeq,
            Aug 2017].
            
            Transcript Variant: This variant (1) 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 :: BC014965.1, D14533.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000375128.5/ ENSP00000364270.5
            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
            1-45                CB155090.1         70-114
            46-1400             BC014965.1         63-1417
FEATURES             Location/Qualifiers
     source          1..1400
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q22.33"
     gene            1..1400
                     /gene="XPA"
                     /gene_synonym="XP1; XPAC"
                     /note="XPA, DNA damage recognition and repair factor"
                     /db_xref="GeneID:7507"
                     /db_xref="HGNC:HGNC:12814"
                     /db_xref="MIM:611153"
     exon            1..220
                     /gene="XPA"
                     /gene_synonym="XP1; XPAC"
                     /inference="alignment:Splign:2.1.0"
     CDS             49..870
                     /gene="XPA"
                     /gene_synonym="XP1; XPAC"
                     /note="isoform 1 is encoded by transcript variant 1; DNA
                     repair protein complementing XP-A cells; xeroderma
                     pigmentosum group A-complementing protein; xeroderma
                     pigmentosum, complementation group A"
                     /codon_start=1
                     /product="DNA repair protein complementing XP-A cells
                     isoform 1"
                     /protein_id="NP_000371.1"
                     /db_xref="CCDS:CCDS6729.1"
                     /db_xref="GeneID:7507"
                     /db_xref="HGNC:HGNC:12814"
                     /db_xref="MIM:611153"
                     /translation="MAAADGALPEAAALEQPAELPASVRASIERKRQRALMLRQARLA
                     ARPYSATAAAATGGMANVKAAPKIIDTGGGFILEEEEEEEQKIGKVVHQPGPVMEFDY
                     VICEECGKEFMDSYLMNHFDLPTCDNCRDADDKHKLITKTEAKQEYLLKDCDLEKREP
                     PLKFIVKKNPHHSQWGDMKLYLKLQIVKRSLEVWGSQEALEEAKEVRQENREKMKQKK
                     FDKKVKELRRAVRSSVWKRETIVHQHEYGPEENLEDDMYRKTCTMCGHELTYEKM"
     exon            221..331
                     /gene="XPA"
                     /gene_synonym="XP1; XPAC"
                     /inference="alignment:Splign:2.1.0"
     exon            332..437
                     /gene="XPA"
                     /gene_synonym="XP1; XPAC"
                     /inference="alignment:Splign:2.1.0"
     exon            438..603
                     /gene="XPA"
                     /gene_synonym="XP1; XPAC"
                     /inference="alignment:Splign:2.1.0"
     exon            604..721
                     /gene="XPA"
                     /gene_synonym="XP1; XPAC"
                     /inference="alignment:Splign:2.1.0"
     exon            722..1400
                     /gene="XPA"
                     /gene_synonym="XP1; XPAC"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1374..1379
                     /regulatory_class="polyA_signal_sequence"
                     /gene="XPA"
                     /gene_synonym="XP1; XPAC"
                     /note="hexamer: AATAAA"
     polyA_site      1400
                     /gene="XPA"
                     /gene_synonym="XP1; XPAC"
                     /note="major polyA site"
ORIGIN      
        1 agtgcgcgtg cgtggagctg ggagctaggt cctcggagtg ggccagagat ggcggcggcc
       61 gacggggctt tgccggaggc ggcggcttta gagcaacccg cggagctgcc tgcctcggtg
      121 cgggcgagta tcgagcggaa gcggcagcgg gcactgatgc tgcgccaggc ccggctggct
      181 gcccggccct actcggcgac ggcggctgcg gctactggag gcatggctaa tgtaaaagca
      241 gccccaaaga taattgacac aggaggaggc ttcattttag aagaggaaga agaagaagaa
      301 cagaaaattg gaaaagttgt tcatcaacca ggacctgtta tggaatttga ttatgtaata
      361 tgcgaagaat gtgggaaaga atttatggat tcttatctta tgaaccactt tgatttgcca
      421 acttgtgata actgcagaga tgctgatgat aaacacaagc ttataaccaa aacagaggca
      481 aaacaagaat atcttctgaa agactgtgat ttagaaaaaa gagagccacc tcttaaattt
      541 attgtgaaga agaatccaca tcattcacaa tggggtgata tgaaactcta cttaaagtta
      601 cagattgtga agaggtctct tgaagtttgg ggtagtcaag aagcattaga agaagcaaag
      661 gaagtccgac aggaaaaccg agaaaaaatg aaacagaaga aatttgataa aaaagtaaaa
      721 gaattgcggc gagcagtaag aagcagcgtg tggaaaaggg agacgattgt tcatcaacat
      781 gagtatggac cagaagaaaa cctagaagat gacatgtacc gtaagacttg tactatgtgt
      841 ggccatgaac tgacatatga aaaaatgtga ttttttagtt cagtgacctg ttttatagaa
      901 ttttatattt aaataaagga aatttagatt ggtccttttc aaaattcaaa aaaaaaagca
      961 acatcttcat agatgaatga aacccttgta taagtaatac ttcagtaata attatgtatg
     1021 ttatggctta aaagcaagtt tcagtgaagg tcacctggcc tggttgtgtg cacaatgtca
     1081 tgtctgtgat tgccttctta caacagagat gggagctgag tgctagagta ggtgcagaag
     1141 tggtaggtca gctacaaatt tgaggacaag ataccaaggc aaaccctaga ttggggtaga
     1201 gggaaaaggg ttcaacaaag gctgaactgg attcttaacc aagaaacaaa taatagcaat
     1261 ggtggtgcac cactgtaccc caggttctag tcatgtgttt tttaggacga tttctgtctc
     1321 cacgatggtg gaaacagtgg ggaactactg ctggaaaaag ccctaatagc agaaataaac
     1381 attgagttgt acgagtctga
//
