ENSMUSG00000024382


Mus musculus

Features
Gene ID: ENSMUSG00000024382
  
Biological name :Ercc3
  
Synonyms : Ercc3 / P49135 / TFIIH basal transcription factor complex helicase XPB subunit
  
Possible biological names infered from orthology : ERCC excision repair 3, TFIIH core complex helicase subunit / P19447
  
Species: Mus musculus
  
Chr. number: 18
Strand: 1
Band: B1
Gene start: 32240300
Gene end: 32270151
  
Corresponding Affymetrix probe sets: 10454564 (MoGene1.0st)   1448497_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000025241
NCBI entrez gene - 13872     See in Manteia.
MGI - MGI:95414
RefSeq - NM_133658
RefSeq - XM_006525636
RefSeq Peptide - NP_598419
swissprot - P49135
Ensembl - ENSMUSG00000024382
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 ercc3ENSDARG00000002402Danio rerio
 ERCC3ENSGALG00000011515Gallus gallus
 ERCC3ENSG00000163161Homo sapiens


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR001161  Helicase XPB/Ssl2
 IPR001650  Helicase, C-terminal
 IPR006935  Helicase/UvrB, N-terminal
 IPR014001  Helicase superfamily 1/2, ATP-binding domain
 IPR027417  P-loop containing nucleoside triphosphate hydrolase
 IPR032438  ERCC3/RAD25/XPB helicase, C-terminal domain
 IPR032830  Helicase XPB/Ssl2, N-terminal domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000717 nucleotide-excision repair, DNA duplex unwinding IEA
 biological_processGO:0001666 response to hypoxia IEA
 biological_processGO:0006265 DNA topological change IEA
 biological_processGO:0006281 DNA repair ISO
 biological_processGO:0006283 transcription-coupled nucleotide-excision repair IEA
 biological_processGO:0006289 nucleotide-excision repair ISO
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006366 transcription by RNA polymerase II IEA
 biological_processGO:0006367 transcription initiation from RNA polymerase II promoter IEA
 biological_processGO:0006468 protein phosphorylation IEA
 biological_processGO:0006915 apoptotic process IEA
 biological_processGO:0006974 cellular response to DNA damage stimulus IEA
 biological_processGO:0006979 response to oxidative stress IEA
 biological_processGO:0008104 protein localization IEA
 biological_processGO:0009411 response to UV IEA
 biological_processGO:0009650 UV protection IGI
 biological_processGO:0033683 nucleotide-excision repair, DNA incision IEA
 biological_processGO:0035315 hair cell differentiation IEA
 biological_processGO:0043065 positive regulation of apoptotic process IEA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IEA
 biological_processGO:0048568 embryonic organ development IEA
 biological_processGO:1901990 regulation of mitotic cell cycle phase transition IEA
 cellular_componentGO:0000439 core TFIIH complex IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm IEA
 cellular_componentGO:0005669 transcription factor TFIID complex IEA
 cellular_componentGO:0005675 holo TFIIH complex IEA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0004003 ATP-dependent DNA helicase activity IEA
 molecular_functionGO:0004386 helicase activity IEA
 molecular_functionGO:0004672 protein kinase activity IEA
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0008022 protein C-terminus binding IEA
 molecular_functionGO:0008094 DNA-dependent ATPase activity IEA
 molecular_functionGO:0008134 transcription factor binding IEA
 molecular_functionGO:0008353 RNA polymerase II carboxy-terminal domain kinase activity IEA
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0016887 ATPase activity IEA
 molecular_functionGO:0043138 3"-5" DNA helicase activity IEA
 molecular_functionGO:0047485 protein N-terminus binding IEA


Pathways (from Reactome)
Pathway description
Formation of RNA Pol II elongation complex
Formation of the Early Elongation Complex
Formation of Incision Complex in GG-NER
Dual Incision in GG-NER
RNA Polymerase II Pre-transcription Events
Formation of TC-NER Pre-Incision Complex
Dual incision in TC-NER
Gap-filling DNA repair synthesis and ligation in TC-NER
TP53 Regulates Transcription of DNA Repair Genes
mRNA Capping
RNA Polymerase I Transcription Initiation
RNA Polymerase I Promoter Escape
RNA Polymerase II Promoter Escape
RNA Polymerase I Chain Elongation
RNA Polymerase II Transcription Pre-Initiation And Promoter Opening
RNA Polymerase I Transcription Termination
RNA Polymerase II Transcription Initiation
RNA Polymerase II Transcription Elongation
RNA Polymerase II Transcription Initiation And Promoter Clearance
RNA Pol II CTD phosphorylation and interaction with CE


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000160 kyphosis "forward curvature of the spine, characterized by extensive flexion. " [J:62023, J:66943, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]
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Allelic Composition: Ercc3tm2Jhjh/Ercc3tm2Jhjh,Xpatm1Hvs/Xpatm1Hvs
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0000438 abnormal skull morphology "anomalous structure or development of the cranium" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Xpatm1Hvs/Xpatm1Hvs
Genetic Background: involves: 129P2/OlaHsd

 MP:0000745 tremors "repetitive, cyclical movements of the body or a body part; usually involuntary, but can also manifest in response to an attempt at movement" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Ercc3tm2Jhjh/Ercc3tm2Jhjh,Xpatm1Hvs/Xpatm1Hvs
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 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: Ate1tm1Akas/Ate1tm1Akas
Genetic Background: Not Specified

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
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Allelic Composition: Ercc3tm2Jhjh/Ercc3tm2Jhjh,Xpatm1Hvs/Xpatm1Hvs
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0001325 abnormal retina morphology "structural or developmental anomaly of the thin layer of neural tissue lining the back of the eyeball which contains visual receptors " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Epb41tm1b(KOMP)Mbp/Epb41+
Genetic Background: C57BL/6N-Epb41tm1b(KOMP)Mbp/J

 MP:0001393 ataxia "inability to coordinate voluntary muscular movements" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:67231]
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Allelic Composition: Ercc3tm2Jhjh/Ercc3tm2Jhjh,Xpatm1Hvs/Xpatm1Hvs
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0001399 hyperactivity "general restlessness or excessive movement; more frequent movement from one place to another" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60409, J:57125]
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Allelic Composition: Ercc3tm2Jhjh/Ercc3tm2Jhjh,Xpatm1Hvs/Xpatm1Hvs
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0001406 abnormal gait "unusual or distinctive way of walking" [J:65038]
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Allelic Composition: Ercc3tm2Jhjh/Ercc3tm2Jhjh,Xpatm1Hvs/Xpatm1Hvs
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0001524 impaired limb coordination "reduced ability to organize limb movements to execute complex maneuvers, such as walking" [J:64962, MGI:CLS, J:17123]
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Allelic Composition: Ercc3tm2Jhjh/Ercc3tm2Jhjh,Xpatm1Hvs/Xpatm1Hvs
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0001525 impaired balance "reduced ability of an animal to maintain equilibrium" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:64962, J:17123]
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Allelic Composition: Ercc3tm2Jhjh/Ercc3tm2Jhjh,Xpatm1Hvs/Xpatm1Hvs
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0001732 postnatal growth retardation "slow or limited development after birth " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Ercc2tm2(ERCC2)Jhjh/Ercc2tm2(ERCC2)Jhjh,Ercc3tm2Jhjh/Ercc3tm2Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0001874 acanthosis "diffuse hyperplasia of the spinous layer of the skin" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Ate1tm1Akas/Ate1tm1Akas
Genetic Background: Not Specified

 MP:0002007 increased sensitivity to gamma-irradiation "increased incidence of cell death following high levels of gamma-irradiation" [J:51834]
Show

Allelic Composition: Ate1tm1Akas/Ate1tm1Akas
Genetic Background: Not Specified

Allelic Composition: Ercc3tm2Jhjh/Ercc3tm2Jhjh,Xpatm1Hvs/Xpatm1Hvs
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Ercc2tm2(ERCC2)Jhjh/Ercc2tm2(ERCC2)Jhjh,Ercc3tm2Jhjh/Ercc3tm2Jhjh
Genetic Background: involves: 129P2/OlaHsd * 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]
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Allelic Composition: Xpatm1Hvs/Xpatm1Hvs
Genetic Background: involves: 129P2/OlaHsd

 MP:0003205 testicular atrophy "wasting of the male reproductive glands resulting in reduced size" [RGD:Rat Genome Database submission]
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Allelic Composition: Ercc3tm2Jhjh/Ercc3tm2Jhjh,Xpatm1Hvs/Xpatm1Hvs
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0003786 premature aging "earlier than normal occurence of the normal signs of aging" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:97764]
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Allelic Composition: Ercc3tm2Jhjh/Ercc3tm2Jhjh,Xpatm1Hvs/Xpatm1Hvs
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0004143 hypertonia "increased muscle tone" [hdene:Howard Dene , Mouse Genome Informatics Curator]
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Allelic Composition: Ercc3tm2Jhjh/Ercc3tm2Jhjh,Xpatm1Hvs/Xpatm1Hvs
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0005150 cachexia "general weight loss and wasting occurring in the course of chronic disease" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Ercc3tm2Jhjh/Ercc3tm2Jhjh,Xpatm1Hvs/Xpatm1Hvs
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0005627 increased circulating potassium level "greater than the normal concentration in the blood of this alkaline metallic element, the most abundant intracellular ion; anomalies in the extracellular (circulating) concentration have important implications for the function of excitable tissues, such as nerve and muscle" [RGD:Rat Genome Database submission]
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Allelic Composition: Epb41tm1b(KOMP)Mbp/Epb41+
Genetic Background: C57BL/6N-Epb41tm1b(KOMP)Mbp/J

 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: Ate1tm1Akas/Ate1tm1Akas
Genetic Background: Not Specified

Allelic Composition: Ercc3tm2Jhjh/Ercc3tm2Jhjh,Xpatm1Hvs/Xpatm1Hvs
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Ercc2tm2(ERCC2)Jhjh/Ercc2tm2(ERCC2)Jhjh,Ercc3tm2Jhjh/Ercc3tm2Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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:0008412 increased cellular sensitivity to oxidative stress "greater incidence of cell death or enhanced production of reactive oxygen species after exposure to a variety of stress conditions including ionizing radiation, exposure to xenobiotics, inflammation, and phagocytosis" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Ercc3tm2Jhjh/Ercc3tm2Jhjh,Xpatm1Hvs/Xpatm1Hvs
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Ercc2tm2(ERCC2)Jhjh/Ercc2tm2(ERCC2)Jhjh,Ercc3tm2Jhjh/Ercc3tm2Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0008489 postnatal slow weight gain "the weight gain over a span of postnatal developmental time is slower than controls, with or without ever attaining a similar weight to controls as adults" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Ercc3tm2Jhjh/Ercc3tm2Jhjh,Xpatm1Hvs/Xpatm1Hvs
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 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]
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Allelic Composition: Ercc2tm2(ERCC2)Jhjh/Ercc2tm2(ERCC2)Jhjh,Ercc3tm2Jhjh/Ercc3tm2Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0011097 complete embryonic lethality before turning of embryo "death of all organisms of a given genotype in a population between somite formation and the initiation of embryo turning (Mus: E8 to less than E9)" [MGI:csmith]
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Allelic Composition: Ate1tm1Akas/Ate1tm1Akas
Genetic Background: Not Specified

 MP:0011100 complete preweaning lethality "death of all organisms of a given genotype in a population between fertilization and weaning age (Mus: approximately 3-4 weeks of age)" [MGI:csmith]
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Allelic Composition: Epb41tm1b(KOMP)Mbp/Epb41+
Genetic Background: C57BL/6N-Epb41tm1b(KOMP)Mbp/J

 MP:0013292 embryonic lethality prior to organogenesis "death prior to the completion of embryo turning (Mus: E9-9.5)" [MGI:smb]
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Allelic Composition: Epb41tm1b(KOMP)Mbp/Epb41+
Genetic Background: C57BL/6N-Epb41tm1b(KOMP)Mbp/J

 MP:0013293 embryonic lethality prior to tooth bud stage "death prior to the appearance of tooth buds (Mus: E12-E12.5)" [MGI:smb]
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Allelic Composition: Epb41tm1b(KOMP)Mbp/Epb41+
Genetic Background: C57BL/6N-Epb41tm1b(KOMP)Mbp/J

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000033543 Gtf2a2 / Q80ZM7 / Transcription initiation factor IIA subunit 2 / P52657* / general transcription factor IIA subunit 2*  / reaction
 ENSMUSG00000020962 Gtf2a1 / Q99PM3 / Transcription initiation factor IIA subunit 1 Transcription initiation factor IIA alpha chain Transcription initiation factor IIA beta chain / P52655* / general transcript...  / reaction
 ENSMUSG00000028271 Gtf2b / P62915 / Transcription initiation factor IIB / Q00403* / general transcription factor IIB*  / reaction
 ENSMUSG00000022828 Gtf2e1 / Q9D0D5 / Mus musculusral transcription factor II E, polypeptide 1 (alpha subunit) (Gtf2e1), transcript variant 2, mRNA. / P29083* / general transcription factor IIE subunit 1*  / reaction
 ENSMUSG00000031585 Gtf2e2 / Q9D902 / ral transcription factor IIE subunit 2 / P29084* / general transcription factor IIE subunit 2*  / reaction
 ENSMUSG00000002658 Gtf2f1 / Q3THK3 / ral transcription factor IIF subunit 1 / P35269* / general transcription factor IIF subunit 1*  / reaction
 ENSMUSG00000067995 Gtf2f2 / Q8R0A0 / ral transcription factor IIF subunit 2 / P13984* / general transcription factor IIF subunit 2*  / reaction






 

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