ENSMUSG00000030094


Mus musculus

Features
Gene ID: ENSMUSG00000030094
  
Biological name :Xpc
  
Synonyms : P51612 / xeroderma pigmentosum, complementation group C / Xpc
  
Possible biological names infered from orthology : Q01831 / XPC complex subunit, DNA damage recognition and repair factor
  
Species: Mus musculus
  
Chr. number: 6
Strand: -1
Band: D1
Gene start: 91489305
Gene end: 91515888
  
Corresponding Affymetrix probe sets: 10546349 (MoGene1.0st)   1422532_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000032182
Ensembl peptide - ENSMUSP00000145777
Ensembl peptide - ENSMUSP00000145683
NCBI entrez gene - 22591     See in Manteia.
MGI - MGI:103557
RefSeq - NM_009531
RefSeq Peptide - NP_033557
swissprot - A0A0U1RP06
swissprot - A0A0U1RNS4
swissprot - P51612
Ensembl - ENSMUSG00000030094
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 xpcENSDARG00000039754Danio rerio
 XPCENSGALG00000006357Gallus gallus
 XPCENSG00000154767Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR004583  DNA repair protein Rad4
 IPR018026  DNA repair protein Rad4, subgroup
 IPR018325  Rad4/PNGase transglutaminase-like fold
 IPR018326  Rad4 beta-hairpin domain 1
 IPR018327  Rad4 beta-hairpin domain 2
 IPR018328  Rad4 beta-hairpin domain 3


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000715 nucleotide-excision repair, DNA damage recognition IEA
 biological_processGO:0006281 DNA repair IMP
 biological_processGO:0006289 nucleotide-excision repair IEA
 biological_processGO:0006298 mismatch repair IBA
 biological_processGO:0006974 cellular response to DNA damage stimulus IMP
 biological_processGO:0010224 response to UV-B IMP
 biological_processGO:0010996 response to auditory stimulus IEA
 biological_processGO:0031573 intra-S DNA damage checkpoint IGI
 biological_processGO:0042493 response to drug IEA
 biological_processGO:0070914 UV-damage excision repair IEA
 biological_processGO:1901990 regulation of mitotic cell cycle phase transition IEA
 cellular_componentGO:0000111 nucleotide-excision repair factor 2 complex IBA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005730 nucleolus IEA
 cellular_componentGO:0005737 cytoplasm IBA
 cellular_componentGO:0005739 mitochondrion IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0043231 intracellular membrane-bounded organelle IEA
 cellular_componentGO:0071942 XPC complex IEA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003684 damaged DNA binding IEA
 molecular_functionGO:0003697 single-stranded DNA binding IEA


Pathways (from Reactome)
Pathway description
SUMOylation of DNA damage response and repair proteins
DNA Damage Recognition in GG-NER
Formation of Incision Complex in GG-NER


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000377 abnormal hair follicle "malformed invagination of the epidermis from which the hair shaft develops" [J:65031]
Show

Allelic Composition: Apobec1tm1Ishi/Apobec1tm1Ishi,Apoetm1Unc/Apoetm1Unc
Genetic Background: involves: 129P2/OlaHsd * 129S7/SvEvBrd * C57BL/6

 MP:0000920 abnormal myelination "atypical or altered myelination in axon sheaths" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Ercc6tm1Gvh/Ercc6tm1Gvh,Xpctm1Brd/Xpctm1Brd
Genetic Background: involves: 129P2/OlaHsd * 129S7/SvEvBrd

 MP:0001203 skin irradiation sensitivity "increased incidence of aberrant or damaged cells due to irradiation induced genotoxic damage" [J:65162]
Show

Allelic Composition: Pax5tm1Mbu/Pax5tm1Mbu
Genetic Background: involves: 129S2/SvPas * C57BL/6

Allelic Composition: Xpctm1Ecf/Xpctm1Ecf
Genetic Background: involves: 129 * SKH1

Allelic Composition: Xpctm1Ecf/Xpc+
Genetic Background: involves: 129 * SKH1

 MP:0001212 skin lesions "focal patches of inflammation on the skin" [J:30162]
Show

Allelic Composition: Mc1re/Mc1re,Xpctm1Brd/Xpctm1Brd,Tg(KRT14-Kitl)1Takk/0
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * SJL

 MP:0001219 thickened epidermis "increase in the width of the epidermal cell layer in the skin" [J:65146]
Show

Allelic Composition: Mc1re/Mc1re,Xpctm1Brd/Xpctm1Brd,Tg(KRT14-Kitl)1Takk/0
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * SJL

 MP:0001222 epidermal hyperplasia "increase in size of the epidermis due to increase in epidermal cell number" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:65146]
Show

Allelic Composition: Apobec1tm1Ishi/Apobec1tm1Ishi,Apoetm1Unc/Apoetm1Unc
Genetic Background: involves: 129P2/OlaHsd * 129S7/SvEvBrd * C57BL/6

 MP:0001263 weight loss "progressive reduction of body weight below normal average for age" [J:45400]
Show

Allelic Composition: Apctm1Hsa/Apc+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0001265 reduced body size "smaller than average body weight, height and/or length of an organism compared to controls" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:23170]
Show

Allelic Composition: Oca2p/Oca2p,Tyrc-i/Tyrc-i
Genetic Background: involves: STOCK Tyrc-r

 MP:0001272 increased metastatic potential 
Show

Allelic Composition: Gadd45atm1Ajf/Gadd45atm1Ajf,Xpctm1Ecf/Xpctm1Ecf
Genetic Background: either: (involves: 129/Sv * 129P2/OlaHsd * C57BL/6) or (involves: 129/Sv * 129X1/SvJ * C57BL/6)

 MP:0001393 ataxia "inability to coordinate voluntary muscular movements" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:67231]
Show

Allelic Composition: Ercc6tm1Gvh/Ercc6tm1Gvh,Xpctm1Brd/Xpctm1Brd
Genetic Background: involves: 129P2/OlaHsd * 129S7/SvEvBrd

 MP:0001405 impaired coordination "reduced ability to execute integrated movements of muscle" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Ercc6tm1Gvh/Ercc6tm1Gvh,Xpctm1Brd/Xpctm1Brd
Genetic Background: involves: 129P2/OlaHsd * 129S7/SvEvBrd

 MP:0001406 abnormal gait "unusual or distinctive way of walking" [J:65038]
Show

Allelic Composition: Ercc6tm1Gvh/Ercc6tm1Gvh,Xpctm1Brd/Xpctm1Brd
Genetic Background: involves: 129P2/OlaHsd * 129S7/SvEvBrd

 MP:0001407 short stride length "reduced average distance between steps" [J:34193]
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Allelic Composition: Ercc6tm1Gvh/Ercc6tm1Gvh,Xpctm1Brd/Xpctm1Brd
Genetic Background: involves: 129P2/OlaHsd * 129S7/SvEvBrd

 MP:0001513 limb grasping "mice clasp front and/or hind feet almost immediately upon being lifted by tail" [cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]
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Allelic Composition: Ercc6tm1Gvh/Ercc6tm1Gvh,Xpctm1Brd/Xpctm1Brd
Genetic Background: involves: 129P2/OlaHsd * 129S7/SvEvBrd

 MP:0001732 postnatal growth retardation "slow or limited development after birth " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Isl2tm3.1(Mnx1-Lhx3)Slp/Isl2+,Tg(Mnx1-GFP)1Slp/?
Genetic Background: Not Specified

Allelic Composition: Ercc6tm1Gvh/Ercc6tm1Gvh,Xpctm1Brd/Xpctm1Brd
Genetic Background: involves: 129P2/OlaHsd * 129S7/SvEvBrd

 MP:0001999 photosensitivity "alterations in the response to sunlight or UV irradiation, especially sensitivity of the eyes" [cwg:Carroll W. Goldsmith, Mouse Genome Informatics Curator, Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Pax5tm1Mbu/Pax5tm1Mbu
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0002020 increased tumor incidence "greater than average number of tumors, usually a specific type" [MGI:cls, J:34193]
Show

Allelic Composition: H2-DMatm1Lkrl/H2-DMatm1Lkrl
Genetic Background: involves: 129P2/OlaHsd

Allelic Composition: Mc1re/Mc1re,Xpctm1Brd/Xpctm1Brd,Tg(KRT14-Kitl)1Takk/0
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * SJL

 MP:0002027 lung adenocarcinoma "malignant neoplasm of epithelial cells in the lung" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:18542]
Show

Allelic Composition: Tyrp1b/Tyrp1b-3CHLe
Genetic Background: involves: 101/Rl * C3H/Rl

Allelic Composition: Gadd45atm1Ajf/Gadd45atm1Ajf,Xpctm1Ecf/Xpctm1Ecf
Genetic Background: either: (involves: 129/Sv * 129P2/OlaHsd * C57BL/6) or (involves: 129/Sv * 129X1/SvJ * C57BL/6)

 MP:0002048 lung adenoma "benign epithelial neoplasm of the lung" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:57631]
Show

Allelic Composition: Tyrp1b/Tyrp1b-3CHLe
Genetic Background: involves: 101/Rl * C3H/Rl

Allelic Composition: Gadd45atm1Ajf/Gadd45atm1Ajf,Xpctm1Ecf/Xpctm1Ecf
Genetic Background: either: (involves: 129/Sv * 129P2/OlaHsd * C57BL/6) or (involves: 129/Sv * 129X1/SvJ * C57BL/6)

 MP:0002083 premature death "death after 3 weeks of age, but before normal life span" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Oca2p/Oca2p,Tyrc-i/Tyrc-i
Genetic Background: involves: STOCK Tyrc-r

Allelic Composition: Gadd45atm1Ajf/Gadd45atm1Ajf,Xpctm1Ecf/Xpctm1Ecf
Genetic Background: either: (involves: 129/Sv * 129P2/OlaHsd * C57BL/6) or (involves: 129/Sv * 129X1/SvJ * C57BL/6)

 MP:0002427 dwarfism "abnormally undersized with disproportionate body parts" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Isl2tm3.1(Mnx1-Lhx3)Slp/Isl2+,Tg(Mnx1-GFP)1Slp/?
Genetic Background: Not Specified

 MP:0003077 abnormal cell cycle "failure to progress or abnormal progression through the stages of of the cell cycle" [smb:Susan M. Bello, Mouse Genome Informatics Curator, J:91266]
Show

Allelic Composition: Apctm1Rak/Apc+,Msh2tm1Rak/Msh2tm1Rak
Genetic Background: involves: 129P2/OlaHsd

 MP:0003674 oxidative stress "condition characterized by an accumulation of free radical groups in the body, which creates a potentially unstable and damaging cellular environment linked to tissue damage, accelerated aging, and degenerative disease; can result from many factors, including exposure to alcohol, medications, poor nutrition, trauma, cold or toxins; may be indicated by low antioxidant levels measured in blood plasma" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Apex1tm1Ecf/Apex1+,Xpctm1Ecf/Xpctm1Ecf
Genetic Background: involves: 129

Allelic Composition: Xpctm1Ecf/Xpctm1Ecf
Genetic Background: involves: 129

 MP:0003871 abnormal myelin sheath morphology "malformation of the insulating envelope that surrounds nerve fibers or axons" [smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Ercc6tm1Gvh/Ercc6tm1Gvh,Xpctm1Brd/Xpctm1Brd
Genetic Background: involves: 129P2/OlaHsd * 129S7/SvEvBrd

 MP:0004207 squamous cell carcinoma "a carcinoma that arises from stratified squamous epithelium that occurs in sites where glandular or columnar epithelium is normally present, such as the skin, esophagus, lungs and cervix" [MGI:rbabiuk "Randall Babiuk, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Mc1re/Mc1re,Xpctm1Brd/Xpctm1Brd,Tg(KRT14-Kitl)1Takk/0
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * SJL

 MP:0004501 increased incidence of UV-induced tumors "higher than normal frequency of tumor incidence induced by exposure to ultraviolet light" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Ercc8tm1Jhjh/Ercc8tm1Jhjh,Xpctm1Ecf/Xpc+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

Allelic Composition: Xpctm1Brd/Xpctm1Brd
Genetic Background: involves: 129S7/SvEvBrd * C57BL

 MP:0005150 cachexia "general weight loss and wasting occurring in the course of chronic disease" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Isl2tm3.1(Mnx1-Lhx3)Slp/Isl2+,Tg(Mnx1-GFP)1Slp/?
Genetic Background: Not Specified

Allelic Composition: Ercc6tm1Gvh/Ercc6tm1Gvh,Xpctm1Brd/Xpctm1Brd
Genetic Background: involves: 129P2/OlaHsd * 129S7/SvEvBrd

 MP:0005621 abnormal cell physiology "aberration in the vital processes of the cell " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, hdene:Howard Dene , Mouse Genome Informatics Curator]
Show

Allelic Composition: Pax5tm1Mbu/Pax5tm1Mbu
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0008014 lung tumor "presence of abnormal, rapidly proliferating cells on the lung usually in the form of a distinct mass" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Tyrp1b/Tyrp1b-3CHLe
Genetic Background: involves: 101/Rl * C3H/Rl

Allelic Composition: Gadd45atm1Ajf/Gadd45atm1Ajf,Xpctm1Ecf/Xpctm1Ecf
Genetic Background: either: (involves: 129/Sv * 129P2/OlaHsd * C57BL/6) or (involves: 129/Sv * 129X1/SvJ * C57BL/6)

 MP:0008410 increased cellular sensitivity to ultraviolet irradiation "greater incidence of cell death following exposure to ultraviolet irradiation" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Xpctm1Ecf/Xpctm1Ecf
Genetic Background: involves: 129

Allelic Composition: Ercc6tm1Gvh/Ercc6tm1Gvh,Xpctm1Ecf/Xpctm1Ecf
Genetic Background: involves: 129 * 129P2/OlaHsd * C57BL/6J

Allelic Composition: Msh2tm1Rak/Msh2tm1Rak,Xpctm1Ecf/Xpctm1Ecf
Genetic Background: involves: 129P2/OlaHsd * SKH1

Allelic Composition: Ercc3tm1.1Gima/Ercc3tm1.1Gima,Xpctm1Ecf/Xpctm1Ecf
Genetic Background: either: (involves: 129/Sv * 129P2/OlaHsd * C57BL/6) or (involves: 129/Sv * 129P2/OlaHsd * FVB/N)

 MP:0008917 abnormal oligodendrocyte physiology "any functional anomaly of the neuroglia of the central nervous system that form the insulating myelin sheath of axons in the CNS" [MESH:A08.637.600]
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Allelic Composition: Ercc6tm1Gvh/Ercc6tm1Gvh,Xpctm1Brd/Xpctm1Brd
Genetic Background: involves: 129P2/OlaHsd * 129S7/SvEvBrd

 MP:0009796 abnormal base-excision repair "any anomaly in the process whereby an altered base is removed by a DNA glycosylase enzyme, followed by excision of the resulting sugar phosphate; the small gap left in the DNA helix is filled in by the sequential action of DNA polymerase and DNA ligase" [GO:0006284]
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Allelic Composition: Ercc6tm1Gvh/Ercc6tm1Gvh,Xpctm1Ecf/Xpctm1Ecf
Genetic Background: involves: 129 * 129P2/OlaHsd * C57BL/6J

 MP:0011083 complete lethality at weaning "premature death at weaning age of all organisms of a given genotype in a population, often due to the inability to make the transition to solid food" [MGI:csmith]
Show

Allelic Composition: Ercc6tm1Gvh/Ercc6tm1Gvh,Xpctm1Brd/Xpctm1Brd
Genetic Background: involves: 129P2/OlaHsd * 129S7/SvEvBrd

 MP:0011085 complete postnatal lethality "premature death anytime between the neonatal period and weaning age of all organisms of a given genotype in a population (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith]
Show

Allelic Composition: Ercc6tm1Gvh/Ercc6tm1Gvh,Xpctm1Ecf/Xpctm1Ecf
Genetic Background: involves: 129 * 129P2/OlaHsd * C57BL/6J

 MP:0011090 partial perinatal lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms within the perinatal period (Mus: E18.5 through postnatal day 1)" [MGI:csmith]
Show

Allelic Composition: Ercc6tm1Gvh/Ercc6tm1Gvh,Xpctm1Ecf/Xpctm1Ecf
Genetic Background: involves: 129 * 129P2/OlaHsd * C57BL/6J

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000020265 Sumo3 / Q9Z172 / small ubiquitin-like modifier 3 / P55854*  / complex
 ENSMUSG00000031446 Cul4a / Q3TCH7 / Cullin-4A / Q13619*  / complex / reaction
 ENSMUSG00000031095 Cul4b / A2A432 / Cullin-4B / Q13620*  / complex / reaction
 ENSMUSG00000024740 Ddb1 / Q3U1J4 / DNA damage-binding protein 1 / Q16531* / damage specific DNA binding protein 1*  / complex / reaction
 ENSMUSG00000022400 Rbx1 / P62878 / E3 ubiquitin-protein ligase RBX1 E3 ubiquitin-protein ligase RBX1, N-terminally processed / P62877* / ring-box 1*  / reaction / complex
 ENSMUSG00000026496 Parp1 / poly (ADP-ribose) polymerase family, member 1 / P09874* / poly(ADP-ribose) polymerase 1*  / complex / reaction
 ENSMUSG00000002109 Ddb2 / Q99J79 / DNA damage-binding protein 2 / Q92466* / damage specific DNA binding protein 2*  / reaction / complex
 ENSMUSG00000028329 Xpa / Q64267 / xeroderma pigmentosum, complementation group A / P23025* / XPA, DNA damage recognition and repair factor*  / complex / reaction
 ENSMUSG00000028426 P54728 / Rad23b / UV excision repair B / P54727* / RAD23 homolog B, nucleotide excision repair protein*  / complex / reaction
 ENSMUSG00000031347 Cetn2 / Q9R1K9 / Centrin-2 / P41208*  / complex / reaction
 ENSMUSG00000026021 Sumo1 / P63166 / Small ubiquitin-related modifier 1 / P63165* / small ubiquitin-like modifier 1*  / reaction / complex
 ENSMUSG00000015120 Ube2i / P63280 / ubiquitin-conjugating enzyme E2I / P63279*  / reaction
 ENSMUSG00000028089 Chd1l / Q9CXF7 / Chromodomain-helicase-DNA-binding protein 1-like / Q86WJ1*  / reaction / complex






 

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