ENSMUSG00000021694


Mus musculus

Features
Gene ID: ENSMUSG00000021694
  
Biological name :Ercc8
  
Synonyms : DNA excision repair protein ERCC-8 / Ercc8 / Q8CFD5
  
Possible biological names infered from orthology : ERCC excision repair 8, CSA ubiquitin ligase complex subunit / Q13216
  
Species: Mus musculus
  
Chr. number: 13
Strand: 1
Band: D2.1
Gene start: 108158731
Gene end: 108195364
  
Corresponding Affymetrix probe sets: 10407057 (MoGene1.0st)   1427194_a_at (Mouse Genome 430 2.0 Array)   1429439_at (Mouse Genome 430 2.0 Array)   1432249_a_at (Mouse Genome 430 2.0 Array)   1454176_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000118154
Ensembl peptide - ENSMUSP00000122802
Ensembl peptide - ENSMUSP00000121777
Ensembl peptide - ENSMUSP00000119212
Ensembl peptide - ENSMUSP00000059211
Ensembl peptide - ENSMUSP00000112746
Ensembl peptide - ENSMUSP00000116226
Ensembl peptide - ENSMUSP00000116507
Ensembl peptide - ENSMUSP00000117492
NCBI entrez gene - 71991     See in Manteia.
MGI - MGI:1919241
RefSeq - XM_017315608
RefSeq - NM_028042
RefSeq - XM_006517763
RefSeq - XM_011244697
RefSeq Peptide - NP_082318
swissprot - D6RIM0
swissprot - D6RET0
swissprot - D3YU16
swissprot - F6QML7
swissprot - F6QPY9
swissprot - Q8CFD5
Ensembl - ENSMUSG00000021694
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 ercc8ENSDARG00000069283Danio rerio
 ERCC8ENSGALG00000014732Gallus gallus
 ERCC8ENSG00000049167Homo sapiens


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR001680  WD40 repeat
 IPR015943  WD40/YVTN repeat-like-containing domain superfamily
 IPR017986  WD40-repeat-containing domain
 IPR019775  WD40 repeat, conserved site
 IPR020472  G-protein beta WD-40 repeat
 IPR036322  WD40-repeat-containing domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000209 protein polyubiquitination IEA
 biological_processGO:0006281 DNA repair IEA
 biological_processGO:0006283 transcription-coupled nucleotide-excision repair IEA
 biological_processGO:0006289 nucleotide-excision repair IEA
 biological_processGO:0006974 cellular response to DNA damage stimulus ISO
 biological_processGO:0006979 response to oxidative stress IEA
 biological_processGO:0009411 response to UV IEA
 biological_processGO:0010165 response to X-ray IMP
 biological_processGO:0010996 response to auditory stimulus IEA
 biological_processGO:0014070 response to organic cyclic compound IEA
 biological_processGO:0016567 protein ubiquitination IEA
 biological_processGO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process IEA
 biological_processGO:0045739 positive regulation of DNA repair ISO
 biological_processGO:0051865 protein autoubiquitination IEA
 cellular_componentGO:0000109 nucleotide-excision repair complex IEA
 cellular_componentGO:0005634 nucleus ISO
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0016363 nuclear matrix IEA
 cellular_componentGO:0031464 Cul4A-RING E3 ubiquitin ligase complex IEA
 cellular_componentGO:0032991 protein-containing complex IEA
 cellular_componentGO:0043204 perikaryon IEA
 cellular_componentGO:0080008 Cul4-RING E3 ubiquitin ligase complex IEA
 molecular_functionGO:0004842 ubiquitin-protein transferase activity IEA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0044877 protein-containing complex binding IEA


Pathways (from Reactome)
Pathway description
Formation of TC-NER Pre-Incision Complex
Dual incision in TC-NER
Gap-filling DNA repair synthesis and ligation in TC-NER
Neddylation


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0001202 skin photosensitivity "abnormally heightened reactivity of the skin to sunlight " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

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

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

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

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

 MP:0003354 astrocytosis "a proliferation or spread of astrocytes in the area of a degenerative lesion or damaged tissue" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Oca2p/Oca2p,Tyrc-i/Tyrc-i
Genetic Background: involves: STOCK Tyrc-r

 MP:0004398 cochlear inner hair cell degeneration "degeneration or loss of the single row of flask-shaped inner hair sensory cells of the organ of Corti" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Ercc6tm1Gvh/Ercc6tm1Gvh
Genetic Background: involves: 129P2/OlaHsd * CBA/CaJ

 MP:0004404 cochlear outer hair cell degeneration "degeneration or loss of the columnar outer hair sensory cells of the organ of Corti" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Ercc6tm1Gvh/Ercc6tm1Gvh
Genetic Background: involves: 129P2/OlaHsd * CBA/CaJ

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

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

 MP:0004736 abnormal distortion product otoacoustic emission "any abnormality in the sound produced by the cochlea in response to stimulation with 2 simultaneous tones of different frequencies; this measurement is particularly useful in assessing the functional state of OHCs" [eMedicine:http://www.emedicine.com/ent/topic372.htm, MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Ercc6tm1Gvh/Ercc6tm1Gvh
Genetic Background: involves: 129P2/OlaHsd * CBA/CaJ

 MP:0006325 impaired hearing "reduced ability to percieve auditory stimuli" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Ercc6tm1Gvh/Ercc6tm1Gvh
Genetic Background: involves: 129P2/OlaHsd * CBA/CaJ

 MP:0008058 abnormal DNA repair "any anomaly in the process of restoring DNA after damage or replication error" [GO:0006281]
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Allelic Composition: Oca2p/Oca2p,Tyrc-i/Tyrc-i
Genetic Background: involves: STOCK Tyrc-r

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

 MP:0008450 retinal photoreceptor degeneration "a retrogressive impairment of function or destruction of a cell specialized to detect and transduce light, including rods and cones of the retina" [MESH:A08.663.650.650, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

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

 MP:0008918 microgliosis "a proliferation or spread of microglia in the area of a degenerative lesion or damaged tissue" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

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

 MP:0011967 increased or absent threshold for auditory brainstem response "increase in the value at which one or more sound frequencies or broadband clicks first elicits a recordable response generated by electrical activity of neurons in the ascending auditory system, or complete lack of a recordable response at any frequency or broadband click" [MGI:csmith]
Show

Allelic Composition: Ercc6tm1Gvh/Ercc6tm1Gvh
Genetic Background: involves: 129P2/OlaHsd * CBA/CaJ

 MP:0013787 photophobia " abnormal aversion or avoidance behavior in response to light; photophobia is symptom of abnormal intolerance to visual perception of light; as a medical symptom, photophobia is not a morbid fear or phobia, but an experience of discomfort or pain to the eyes due to light exposure or by presence of actual physical sensitivity of the eyes" [http://en.wikipedia.org/wiki/Photophobia, MGI:Anna]
Show

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

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000031446 Cul4a / Q3TCH7 / Cullin-4A / Q13619*  / complex
 ENSMUSG00000031095 Cul4b / A2A432 / Cullin-4B / Q13620*  / complex
 ENSMUSG00000024740 Ddb1 / Q3U1J4 / DNA damage-binding protein 1 / Q16531* / damage specific DNA binding protein 1*  / complex
 ENSMUSG00000022400 Rbx1 / P62878 / E3 ubiquitin-protein ligase RBX1 E3 ubiquitin-protein ligase RBX1, N-terminally processed / P62877* / ring-box 1*  / complex
 ENSMUSG00000054051 Ercc6 / ERCC excision repair 6, chromatin remodeling factor / P0DP91* / Q03468* / Q8N328*  / complex / reaction






 

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