ENSMUSG00000024740


Mus musculus

Features
Gene ID: ENSMUSG00000024740
  
Biological name :Ddb1
  
Synonyms : Ddb1 / DNA damage-binding protein 1 / Q3U1J4
  
Possible biological names infered from orthology : damage specific DNA binding protein 1 / Q16531
  
Species: Mus musculus
  
Chr. number: 19
Strand: 1
Band: A
Gene start: 10605625
Gene end: 10629813
  
Corresponding Affymetrix probe sets: 10461497 (MoGene1.0st)   10338344 (MoGene1.0st)   10338463 (MoGene1.0st)   10338515 (MoGene1.0st)   10339064 (MoGene1.0st)   10339502 (MoGene1.0st)   10339595 (MoGene1.0st)   10339670 (MoGene1.0st)   10339928 (MoGene1.0st)   10339980 (MoGene1.0st)   10340206 (MoGene1.0st)   10340389 (MoGene1.0st)   10340444 (MoGene1.0st)   10340458 (MoGene1.0st)   10340464 (MoGene1.0st)   10340563 (MoGene1.0st)   10341055 (MoGene1.0st)   10341381 (MoGene1.0st)   10341530 (MoGene1.0st)   10341561 (MoGene1.0st)   10341832 (MoGene1.0st)   10342044 (MoGene1.0st)   10342180 (MoGene1.0st)   10342684 (MoGene1.0st)   10343293 (MoGene1.0st)   10343581 (MoGene1.0st)   10343802 (MoGene1.0st)   10343924 (MoGene1.0st)   10344137 (MoGene1.0st)   10344185 (MoGene1.0st)   10344497 (MoGene1.0st)   1415735_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000025649
NCBI entrez gene - 13194     See in Manteia.
MGI - MGI:1202384
RefSeq - NM_015735
RefSeq - XM_006526639
RefSeq Peptide - NP_056550
swissprot - Q3U1J4
Ensembl - ENSMUSG00000024740
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 ddb1ENSDARG00000074431Danio rerio
 DDB1ENSGALG00000042333Gallus gallus
 DDB1ENSG00000167986Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Sf3b3 / Q921M3 / splicing factor 3b, subunit 3 / Q15393*ENSMUSG0000003373223


Protein motifs (from Interpro)
Interpro ID Name
 IPR004871  Cleavage/polyadenylation specificity factor, A subunit, C-terminal
 IPR011047  Quinoprotein alcohol dehydrogenase-like superfamily
 IPR015943  WD40/YVTN repeat-like-containing domain superfamily
 IPR031297  DNA damage-binding protein 1


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006281 DNA repair IEA
 biological_processGO:0006289 nucleotide-excision repair IBA
 biological_processGO:0006511 ubiquitin-dependent protein catabolic process IEA
 biological_processGO:0006974 cellular response to DNA damage stimulus ISO
 biological_processGO:0010498 proteasomal protein catabolic process IEA
 biological_processGO:0016055 Wnt signaling pathway IDA
 biological_processGO:0016567 protein ubiquitination ISO
 biological_processGO:0035518 histone H2A monoubiquitination IEA
 biological_processGO:0043066 negative regulation of apoptotic process IMP
 biological_processGO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process IEA
 biological_processGO:0045070 positive regulation of viral genome replication IEA
 biological_processGO:0045732 positive regulation of protein catabolic process IEA
 biological_processGO:0046726 positive regulation by virus of viral protein levels in host cell IEA
 biological_processGO:0051702 interaction with symbiont IEA
 biological_processGO:0070914 UV-damage excision repair IEA
 biological_processGO:1901990 regulation of mitotic cell cycle phase transition IEA
 biological_processGO:1902188 positive regulation of viral release from host cell IEA
 cellular_componentGO:0005634 nucleus IBA
 cellular_componentGO:0005654 nucleoplasm IEA
 cellular_componentGO:0005737 cytoplasm ISS
 cellular_componentGO:0031461 cullin-RING ubiquitin ligase complex IBA
 cellular_componentGO:0031464 Cul4A-RING E3 ubiquitin ligase complex IEA
 cellular_componentGO:0031465 Cul4B-RING E3 ubiquitin ligase complex IEA
 cellular_componentGO:0032991 protein-containing complex IEA
 cellular_componentGO:0080008 Cul4-RING E3 ubiquitin ligase complex IEA
 molecular_functionGO:0003676 nucleic acid binding IEA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003684 damaged DNA binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0030674 protein binding, bridging IEA
 molecular_functionGO:0044877 protein-containing complex binding IEA
 molecular_functionGO:0071987 WD40-repeat domain binding IEA
 molecular_functionGO:0097602 cullin family protein binding IEA


Pathways (from Reactome)
Pathway description
Recognition of DNA damage by PCNA-containing replication complex
DNA Damage Recognition in GG-NER
Formation of Incision Complex in GG-NER
Dual Incision in GG-NER
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:0000774 reduced brain size "smaller appearance of the brain" [J:35802]
Show

Allelic Composition: Thratm1Ven/Thra+,Thrbtm1Df/Thrbtm1Df
Genetic Background: B6.129-Thratm1Ven Thrbtm1Df

 MP:0000788 abnormal cerebral cortex morphology "malformed gray cellular mantle covering the surface of the brain" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:38857]
Show

Allelic Composition: Thratm1Ven/Thra+,Thrbtm1Df/Thrbtm1Df
Genetic Background: B6.129-Thratm1Ven Thrbtm1Df

 MP:0000819 abnormal olfactory bulb morphology "malformation or absence of the forebrain region that coordinates neuronal signaling involved in the perception of smell; it receives input from the sensory neurons and outputs to the olfactory cortex" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, Principles of Neural Science:ISBN 0-8385-8034-3, J:16461]
Show

Allelic Composition: Thratm1Ven/Thra+,Thrbtm1Df/Thrbtm1Df
Genetic Background: B6.129-Thratm1Ven Thrbtm1Df

 MP:0000823 abnormal lateral ventricle morphology "malformation or absence of cavity in each of the cerebral hemispheres derived from the cavity of the embryonic neural tube; they are separated from each other by the septum pellucidum, and each communicates with the third ventricle by the foramen of Monro, through which also the choroid plexuses of the lateral ventricles become continuous with that of the third ventricle" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Thratm1Ven/Thra+,Thrbtm1Df/Thrbtm1Df
Genetic Background: B6.129-Thratm1Ven Thrbtm1Df

 MP:0000828 abnormal fourth ventricle morphology "malformed or absent irregularly shaped cavity in the rhombencephalon, between the medulla oblongata, the pons, and the isthmus in front, and the cerebellum behind; it is continuous with the central canal of the cord below and with the cerebral aqueduct above, and through its lateral and median apertures it communicates with the subarachnoid space" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Thratm1Ven/Thra+,Thrbtm1Df/Thrbtm1Df
Genetic Background: B6.129-Thratm1Ven Thrbtm1Df

 MP:0000852 small cerebellum "reduced size of cerebellum" [MGI:CLS, J:17203, J:67524]
Show

Allelic Composition: Thratm1Ven/Thra+,Thrbtm1Df/Thrbtm1Df
Genetic Background: B6.129-Thratm1Ven Thrbtm1Df

 MP:0000872 abnormal external granule cell layer "malformation of the transient layer of the cerebellar cortex which is composed of the dividing and migrating granule cells" [tc:Teresa Chu , Mouse Genome Informatics Curator]
Show

Allelic Composition: Thratm1Ven/Thra+,Thrbtm1Df/Thrbtm1Df
Genetic Background: B6.129-Thratm1Ven Thrbtm1Df

 MP:0001303 abnormal lens morphology "malformed transparent structure of the eye responsible for focusing light rays" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:40203]
Show

Allelic Composition: Thratm1Ven/Thra+,Thrbtm1Df/Thrbtm1Df
Genetic Background: B6.129-Thratm1Ven Thrbtm1Df

 MP:0001304 cataracts "complete or partial opacity of the lens" [J:65031]
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Allelic Composition: Thratm1Ven/Thra+,Thrbtm1Df/Thrbtm1Df
Genetic Background: B6.129-Thratm1Ven Thrbtm1Df

 MP:0001614 abnormal vasculature "anomalies in the structure of development of the network of tubes that carries blood through the body" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Thratm1Ven/Thra+,Thrbtm1Df/Thrbtm1Df
Genetic Background: B6.129-Thratm1Ven Thrbtm1Df

 MP:0001915 intracranial hemorrhage "bleeding within the skull, including hemorrhage into the brain and within the cranial epidural, subdural, and subarachnoid spaces" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Thratm1Ven/Thra+,Thrbtm1Df/Thrbtm1Df
Genetic Background: B6.129-Thratm1Ven Thrbtm1Df

 MP:0001916 intracerebral hemorrhage "bleeding within the cerebrum" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Thratm1Ven/Thra+,Thrbtm1Df/Thrbtm1Df
Genetic Background: B6.129-Thratm1Ven Thrbtm1Df

 MP:0002152 abnormal brain morphology "anomalous structure of or abnormal development of the brain, one of the two components of the central nervous system and the center of thought and emotion; controls coordination, bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.)" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, http://cancerweb.ncl.ac.uk]
Show

Allelic Composition: Thratm1Ven/Thra+,Thrbtm1Df/Thrbtm1Df
Genetic Background: B6.129-Thratm1Ven Thrbtm1Df

 MP:0003202 abnormal neuron apoptosis "change in the timing or the number of neurons undergoing programmed cell death" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Thratm1Ven/Thra+,Thrbtm1Df/Thrbtm1Df
Genetic Background: B6.129-Thratm1Ven Thrbtm1Df

 MP:0003237 abnormal lens epithelium morphology "malformation in the one or more of the layers of epithelial cells in the lens" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:93301]
Show

Allelic Composition: Thratm1Ven/Thra+,Thrbtm1Df/Thrbtm1Df
Genetic Background: B6.129-Thratm1Ven Thrbtm1Df

 MP:0003633 abnormal nervous system physiology 
Show

Allelic Composition: Thratm1Ven/Thra+,Thrbtm1Df/Thrbtm1Df
Genetic Background: B6.129-Thratm1Ven Thrbtm1Df

 MP:0005537 abnormal cerebral aqueduct "anomalous structure of the channel in the mesencephalon that connets the third and fourth ventricles" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, hdene:Howard Dene , Mouse Genome Informatics Curator]
Show

Allelic Composition: Thratm1Ven/Thra+,Thrbtm1Df/Thrbtm1Df
Genetic Background: B6.129-Thratm1Ven Thrbtm1Df

 MP:0006052 cerebellum hemorrhage "bleeding into the cerebellum" [RGD:Rat Genome Database submission, smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Thratm1Ven/Thra+,Thrbtm1Df/Thrbtm1Df
Genetic Background: B6.129-Thratm1Ven Thrbtm1Df

 MP:0006254 thin cerebral cortex "decreased depth of the mantle covering the surface of the cerebral hemispheres" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:84683]
Show

Allelic Composition: Thratm1Ven/Thra+,Thrbtm1Df/Thrbtm1Df
Genetic Background: B6.129-Thratm1Ven Thrbtm1Df

 MP:0008535 enlarged lateral ventricles "increased size of the cavity in each of the cerebral hemispheres derived from the cavity of the embryonic neural tube; they are separated from each other by the septum pellucidum, and each communicates with the third ventricle by the foramen of Monro, through which also the choroid plexuses of the lateral ventricles become continuous with that of the third ventricle" [MESH:A08.186.211.276.650, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Thratm1Ven/Thra+,Thrbtm1Df/Thrbtm1Df
Genetic Background: B6.129-Thratm1Ven Thrbtm1Df

 MP:0008794 increased lens epithelium apopotosis "increase in the number of lens epithelial cells undergoing programmed cell death" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Thratm1Ven/Thra+,Thrbtm1Df/Thrbtm1Df
Genetic Background: B6.129-Thratm1Ven Thrbtm1Df

 MP:0011087 complete neonatal lethality "death of all organisms of a given genotype in a population within the neonatal period after birth (Mus: P0)" [MGI:csmith]
Show

Allelic Composition: Thratm1Ven/Thra+,Thrbtm1Df/Thrbtm1Df
Genetic Background: B6.129-Thratm1Ven Thrbtm1Df

Allelic Composition: Ddb1tm1Spg/Ddb1tm1Spg,Trp53tm1Tyj/Trp53tm1Tyj,Tg(Nes-cre)1Kln/0
Genetic Background: involves: 129P2/OlaHsd * 129S2/SvPas * C57BL/6 * SJL

 MP:0011098 complete embryonic lethality during organogenesis "death of all organisms of a given genotype in a population between embryo turning and the completion of organogenesis (Mus: E9 to less than E14)" [MGI:csmith]
Show

Allelic Composition: Thratm1Ven/Thra+,Thrbtm1Df/Thrbtm1Df
Genetic Background: B6.129-Thratm1Ven Thrbtm1Df

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000031446 Cul4a / Q3TCH7 / Cullin-4A / Q13619*  / complex
 ENSMUSG00000031095 Cul4b / A2A432 / Cullin-4B / Q13620*  / complex
 ENSMUSG00000020114 Cand1 / Q6ZQ38 / Cullin-associated NEDD8-dissociated protein 1 / Q86VP6* / cullin associated and neddylation dissociated 1*  / reaction / complex
 ENSMUSG00000037474 Dtl / Q3TLR7 / Denticleless protein homolog / Q9NZJ0* / denticleless E3 ubiquitin protein ligase homolog*  / complex
 ENSMUSG00000054051 Ercc6 / ERCC excision repair 6, chromatin remodeling factor / P0DP91* / Q03468* / Q8N328*  / reaction / complex
 ENSMUSG00000028884 Rpa2 / replication protein A2 / P15927*  / reaction / complex
 ENSMUSG00000020471 Pold2 / O35654 / polymerase (DNA directed), delta 2, regulatory subunit / P49005* / DNA polymerase delta 2, accessory subunit*  / complex / reaction
 ENSMUSG00000005575 Ube2m / P61082 / ubiquitin-conjugating enzyme E2M / P61081*  / complex
 ENSMUSG00000002109 Ddb2 / Q99J79 / DNA damage-binding protein 2 / Q92466* / damage specific DNA binding protein 2*  / complex
 ENSMUSG00000028426 P54728 / Rad23b / UV excision repair B / P54727* / RAD23 homolog B, nucleotide excision repair protein*  / complex / reaction
 ENSMUSG00000028329 Xpa / Q64267 / xeroderma pigmentosum, complementation group A / P23025* / XPA, DNA damage recognition and repair factor*  / reaction / complex
 ENSMUSG00000031347 Cetn2 / Q9R1K9 / Centrin-2 / P41208*  / reaction / complex
 ENSMUSG00000021694 Ercc8 / Q8CFD5 / DNA excision repair protein ERCC-8 / Q13216* / ERCC excision repair 8, CSA ubiquitin ligase complex subunit*  / complex
 ENSMUSG00000000751 Rpa1 / Q8VEE4 / Replication protein A 70 kDa DNA-binding subunit / P27694* / replication protein A1*  / complex / reaction
 ENSMUSG00000030094 Xpc / P51612 / xeroderma pigmentosum, complementation group C / Q01831* / XPC complex subunit, DNA damage recognition and repair factor*  / reaction / complex
 ENSMUSG00000026496 Parp1 / poly (ADP-ribose) polymerase family, member 1 / P09874* / poly(ADP-ribose) polymerase 1*  / reaction / complex
 ENSMUSG00000027342 Pcna / P17918 / proliferating cell nuclear antigen / P12004*  / reaction / complex
 ENSMUSG00000022400 Rbx1 / P62878 / E3 ubiquitin-protein ligase RBX1 E3 ubiquitin-protein ligase RBX1, N-terminally processed / P62877* / ring-box 1*  / complex
 ENSMUSG00000024854 Pold4 / Q9CWP8 / polymerase (DNA-directed), delta 4 / Q9HCU8* / AP003419.1* / DNA polymerase delta 4, accessory subunit*  / complex / reaction
 ENSMUSG00000038644 Pold1 / P52431 / polymerase (DNA directed), delta 1, catalytic subunit / P28340* / DNA polymerase delta 1, catalytic subunit*  / complex / reaction
 ENSMUSG00000010376 Nedd8 / P29595 / Q15843* / neural precursor cell expressed, developmentally down-regulated 8*  / complex
 ENSMUSG00000012483 Rpa3 / Q9CQ71 / Replication protein A 14 kDa subunit / P35244* / replication protein A3*  / reaction / complex
 ENSMUSG00000025917 Cops5 / O35864 / COP9 signalosome complex subunit 5 / Q92905* / COP9 signalosome subunit 5*  / reaction
 ENSMUSG00000031143 Ccdc22 / Q9JIG7 / Coiled-coil domain-containing protein 22 / O60826* / coiled-coil domain containing 22*  / reaction / complex
 ENSMUSG00000028089 Chd1l / Q9CXF7 / Chromodomain-helicase-DNA-binding protein 1-like / Q86WJ1*  / complex / reaction
 ENSMUSG00000051355 Commd1 / Q8K4M5 / COMM domain-containing protein 1 / Q8N668* / copper metabolism domain containing 1*  / complex / reaction






 

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