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FLASH GENE
Symbol XPA contributors: mct/npt/pgu - updated : 21-06-2015
HGNC name xeroderma pigmentosum, complementation group A
HGNC id 12814
Corresponding disease
XPA xeroderma pigmentosum, complementation group A
Location 9q22.33      Physical location : 100.437.191 - 100.459.691
Synonym name
  • fast kinetic complementation DNA repair in xeroderma pigmentosum, group A
  • complementing repair defect in UV irradiated xeroderma pigmentation group A cells
  • excision repair-controlling
  • Synonym symbol(s) XPAC, XP1
    DNA
    TYPE functioning gene
    STRUCTURE 22.50 kb     6 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Map cen - D9S12 ,D9S151 - D9S197 - D9S196 - FANCC FANCC - D9S280 - XPA XPA - D9S180 - D9S1711 - D9S272 - ALDOB ALDOB - D9S22 ,D9S6 - D9S176 ,D9S173 - D9S109 - D9S127 ,D9S53- qter
    Physical map
    HSD17B3 9q22.3 hydroxysteroid (17-beta) dehydrogenase 3 SLC35D2 9q22.33 solute carrier family 35, member D2 ZNF367 9q22 zinc finger protein 367 HABP4 9q22.3-q31 hyaluronan binding protein 4 CDC14B 9q22.32 CDC14 cell division cycle 14 homolog B (S. cerevisiae) C9orf21 9q22.32 chromosome 9 open reading frame 21 LOC286355 9q22.33 similar to hypothetical protein ZNF510 9q22.33 zinc finger protein 510 LOC158431 9q22.33 similar to zinc finger protein 11b (KOX 2) LOC347262 9q22.33 similar to hypothetical protein FLJ40432 LOC392369 9 similar to hypothetical protein HIATL2 9q22.33 hippocampus abundant gene transcript-like 2 CTSL2 9q22.2 cathepsin L2 TCEA1P 9q22.33 transcription elongation factor A (SII), 1 pseudogene LOC340508 9q22.33 hypothetical protein LOC340508 LOC389776 9 similar to RIKEN cDNA 2810453I06 LOC392370 9 similar to SNAG1 KIAA1529 9q22.33 KIAA1529 LOC389777 9 LOC389777 LOC286359 9q22.33 hypothetical protein LOC286359 PCTAIRE2BP 9q22.33 tudor repeat associator with PCTAIRE 2 TMOD1 9q22.32-q22.33 tropomodulin 1 LOC158427 9q22.33 PP4189 NCBP1 9q34.1 nuclear cap binding protein subunit 1, 80kDa XPA 9q22.32 xeroderma pigmentosum, complementation group A LOC392371 9 similar to Keratin, type I cytoskeletal 18 (Cytokeratin 18) (K18) (CK 18) FOXE1 9q22.3 forkhead box E1 (thyroid transcription factor 2) NAP1 19q13.33 pronapsin A HEMGN 9q22.33 hemogen ANP32B 9q22.32 acidic (leucine-rich) nuclear phosphoprotein 32 family, member B NANS 9p24.1-p23 N-acetylneuraminic acid synthase (sialic acid synthase) TRIM14 9q22.32 tripartite motif-containing 14 CORO2A 9q22.3 coronin, actin binding protein, 2A TBC1D2 9q22.33 TBC1 domain family, member 2 GPR51 9q22.1 G protein-coupled receptor 51 SAMD6 9q31.1 sterile alpha motif domain containing 6 GALNT12 9q22.33 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12) LOC392372 9 similar to Nucleoside diphosphate kinase B (NDK B) (NDP kinase B) (P18) COL15A1 9q22.32-q22.33 collagen, type XV, alpha 1 TGFBR1 9q22 transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kDa)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    6 - 1491 31 273 - 2012 23152873
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinesmall intestine  highly
     mouthtongue  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow  highly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Lymphoid/ImmuneB cell
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a nuclear localization signal
  • a AlkB homolog 2 PCNA interacting motif (APIM)
  • mono polymer dimer
    HOMOLOGY
    interspecies homolog to yeast RAD14
    homolog to murine Xpa
    homolog to rattus LOC298074
    Homologene
    FAMILY
  • XPA family
  • CATEGORY DNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm
    intracellular,nucleus,chromatin/chromosome
    text
  • colocalizes with PCNA in replication foci and is loaded on newly synthesized DNA in undamaged cells
  • basic FUNCTION
  • binding photoproduct (damage recognition in the process of nucleotide excision repair)
  • monitoring DNA binding and unwinding and exercizing an architectural function in DNA repair
  • transcription-coupled repair (TCR) of oxidative lesions
  • critical role of XPA as a scaffold might explain why XP-A patients or XPA-deficient cells exhibit the most severe phenotypes among seven complementation groups of NER-defective XP
  • possible key role of XPA orientation in conjunction with RPA1 binding to undamaged strand for the positioning of the NER (nucleotide excision repair) preincision complex
  • proper orientation of XPA and RPA1 in the stage of preincision was achieved in the absence of ERCC3 and XPG
  • central but somewhat elusive role in nucleotide excision repair
  • its phosphorylation enhanced the chromatin retention of XPA, the interaction with its binding partners following DNA damage
  • essential protein in the nucleotide excision repair (NER) pathway, in charge of recruiting the ERCC1-XPF endonuclease complex to the DNA damage site
  • CELLULAR PROCESS nucleotide, repair, nucleotide excision repair
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    nucleotide-excision repair
    a component
  • complexing with ERCC1 (complex essential for nucleotide excision repair activity)
  • INTERACTION
    DNA damaged DNA binding
    RNA
    small molecule metal binding,
  • Zn2+
  • protein
  • associating with RPA,subunits 1 and 2
  • interacting with XAB1
  • interacting with DDB1, DDB2 (directly mainly through DDB2 subunit and the amino-acid residues between 185 and 226 in XPA are important for the interaction)(Wakasugi 2009)
  • SIRT1 interacts with XPA, and the interaction is enhanced after UV irradiation
  • nucleotide excision repair (NER) is regulated by the ATR/TP53 checkpoint via modulation of XPA nuclear import and this regulation occurs in a cell cycle-dependent manner
  • interaction between ERCC1 and XPA is essential for a successful NER function
  • GTF2H5 recruits XPA through its first 15 amino acids
  • XPA requires RASSF1 to exert full repair activity, and RASSF1-deficient cells exhibit an impaired ability to repair DNA
  • cell & other
    REGULATION
    Phosphorylated by ATR (for NER activation, ATR phosphorylates XPA, the rate-limiting factor in the NER pathway)
    ASSOCIATED DISORDERS
    corresponding disease(s) XPA
    Susceptibility gastric carcinoma (GCA)
    Variant & Polymorphism other A23G polymorphisms may be useful markers for identifying individuals at risk of developing GCA in China
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Xpa deficiency substantially reduces the age-dependent CAG repeat instability at the mouse Sca1 locus in several tissues of the brain, but does not affect instability in the kidney or liver