ENSMUSG00000034329


Mus musculus

Features
Gene ID: ENSMUSG00000034329
  
Biological name :Brip1
  
Synonyms : Brip1 / Fanconi anemia group J protein homolog / Q5SXJ3
  
Possible biological names infered from orthology : BRCA1 interacting protein C-terminal helicase 1 / Q9BX63
  
Species: Mus musculus
  
Chr. number: 11
Strand: -1
Band: C
Gene start: 86058138
Gene end: 86201193
  
Corresponding Affymetrix probe sets: 10389395 (MoGene1.0st)   1458427_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000043108
NCBI entrez gene - 237911     See in Manteia.
MGI - MGI:2442836
RefSeq - NM_178309
RefSeq - XM_006533239
RefSeq Peptide - NP_840094
swissprot - Q5SXJ3
Ensembl - ENSMUSG00000034329
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 brip1ENSDARG00000074410Danio rerio
 BRIP1ENSGALG00000005279Gallus gallus
 BRIP1ENSG00000136492Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Rtel1 / Q0VGM9 / Regulator of telomere elongation helicase 1 / Q9NZ71* / RTEL1-TNFRSF6B* / RTEL1-TNFRSF6B readthrough (NMD candidate)*ENSMUSG0000003868524
Ddx11 / Q6AXC6 / Mus musculus DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 (Ddx11), transcript variant 2, mRNA. / Q96FC9* / DEAD/H-box helicase 11*ENSMUSG0000003584218


Protein motifs (from Interpro)
Interpro ID Name
 IPR006554  Helicase-like, DEXD box c2 type
 IPR006555  ATP-dependent helicase, C-terminal
 IPR010614  DEAD2
 IPR013020  ATP-dependent helicase Rad3/Chl1-like
 IPR014001  Helicase superfamily 1/2, ATP-binding domain
 IPR014013  Helicase superfamily 1/2, ATP-binding domain, DinG/Rad3-type
 IPR027417  P-loop containing nucleoside triphosphate hydrolase


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006139 nucleobase-containing compound metabolic process IEA
 biological_processGO:0006281 DNA repair IEA
 biological_processGO:0006357 regulation of transcription by RNA polymerase II IEA
 biological_processGO:0006974 cellular response to DNA damage stimulus IEA
 biological_processGO:0007129 synapsis IMP
 biological_processGO:0007283 spermatogenesis IMP
 biological_processGO:0007284 spermatogonial cell division IMP
 biological_processGO:0007286 spermatid development IMP
 biological_processGO:0008285 negative regulation of cell proliferation IEA
 biological_processGO:0008584 male gonad development IMP
 biological_processGO:0009636 response to toxic substance IEA
 biological_processGO:0010629 negative regulation of gene expression IEA
 biological_processGO:0010705 meiotic DNA double-strand break processing involved in reciprocal meiotic recombination IMP
 biological_processGO:0032508 DNA duplex unwinding IEA
 biological_processGO:0051026 chiasma assembly IMP
 biological_processGO:0071295 cellular response to vitamin IEA
 biological_processGO:0071456 cellular response to hypoxia IEA
 biological_processGO:0072520 seminiferous tubule development IMP
 biological_processGO:1904385 cellular response to angiotensin IEA
 biological_processGO:1990918 double-strand break repair involved in meiotic recombination IMP
 cellular_componentGO:0005634 nucleus ISO
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0031965 nuclear membrane IEA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0003676 nucleic acid binding IEA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003682 chromatin binding IEA
 molecular_functionGO:0004003 ATP-dependent DNA helicase activity IEA
 molecular_functionGO:0004386 helicase activity IEA
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0008026 ATP-dependent helicase activity IEA
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0016818 hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides IEA
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0051536 iron-sulfur cluster binding IEA
 molecular_functionGO:0051539 4 iron, 4 sulfur cluster binding IEA


Pathways (from Reactome)
Pathway description
HDR through Single Strand Annealing (SSA)
HDR through Homologous Recombination (HRR)
Resolution of D-loop Structures through Holliday Junction Intermediates
Homologous DNA Pairing and Strand Exchange
Processing of DNA double-strand break ends
Presynaptic phase of homologous DNA pairing and strand exchange
Regulation of TP53 Activity through Phosphorylation
G2/M DNA damage checkpoint


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000352 decreased cell proliferation "less than the normal growth and reproduction of similar cells" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Best1tm1Web/Best1tm1Web
Genetic Background: involves: CD-1

 MP:0001147 small testis "reduced size of the male reproductive glands" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:58959]
Show

Allelic Composition: Best1tm1Web/Best1tm1Web
Genetic Background: involves: CD-1

Allelic Composition: Brip1Gt(RRI409)Byg/Brip1Gt(RRI409)Byg,Fancd2tm1Hou/Fancd2tm1Hou
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae

 MP:0001921 reduced fertility "diminished ability to produce live offspring" [J:65030]
Show

Allelic Composition: Best1tm1Web/Best1tm1Web
Genetic Background: involves: CD-1

 MP:0001935 reduced litter size "fewer live born pups in a litter compared to average" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Best1tm1Web/Best1tm1Web
Genetic Background: involves: CD-1

 MP:0001940 testicular hypoplasia "decreased cell number in the testicles" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Best1tm1Web/Best1tm1Web
Genetic Background: involves: CD-1

 MP:0002016 ovarian cysts "cystic ovary; usually refers to a benign growth" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:35782]
Show

Allelic Composition: Best1tm1Web/Best1tm1Web
Genetic Background: involves: CD-1

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

Allelic Composition: Best1tm1Web/Best1tm1Web
Genetic Background: involves: CD-1

 MP:0002041 pituitary adenoma "appearance of benign neoplasms of the pituitary" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:33042]
Show

Allelic Composition: Best1tm1Web/Best1tm1Web
Genetic Background: involves: CD-1

 MP:0002216 abnormal seminiferous tubule morphology "malformation of the tubules in the testes where spermatogenesis occurs" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Best1tm1Web/Best1tm1Web
Genetic Background: involves: CD-1

Allelic Composition: Brip1Gt(RRI409)Byg/Brip1Gt(RRI409)Byg,Fancd2tm1Hou/Fancd2tm1Hou
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae

 MP:0002628 fatty liver "an accumulation of fat deposits in the liver " [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
Show

Allelic Composition: Best1tm1Web/Best1tm1Web
Genetic Background: involves: CD-1

 MP:0002685 abnormal proliferation of spermatogonia "reduction in the proliferation of the spermatogonial stem cells either due to reduced mitosis or increased apoptosis" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:62271]
Show

Allelic Composition: Best1tm1Web/Best1tm1Web
Genetic Background: involves: CD-1

 MP:0002687 oligozoospermia "reduced concentration of spermatozoa " [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:57312]
Show

Allelic Composition: Best1tm1Web/Best1tm1Web
Genetic Background: involves: CD-1

 MP:0002776 Sertoli cell hyperplasia "increased number of cells of the seminiferous tubules that create the blood-testes barrier and enable spermatogenesis" [J:71710, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
Show

Allelic Composition: Best1tm1Web/Best1tm1Web
Genetic Background: involves: CD-1

 MP:0003205 testicular atrophy "wasting of the male reproductive glands resulting in reduced size" [RGD:Rat Genome Database submission]
Show

Allelic Composition: Best1tm1Web/Best1tm1Web
Genetic Background: involves: CD-1

 MP:0003582 abnormal ovary development "abnormal morphogenesis of the female reproductive gland containing the germ cells" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Best1tm1Web/Best1tm1Web
Genetic Background: involves: CD-1

 MP:0003702 abnormal chromosome morphology "anomalies in the structure of the compact, intertwined molecules of DNA found in the nucleus which carry genetic information " [hdene:Howard Dene , Mouse Genome Informatics Curator]
Show

Allelic Composition: Best1tm1Web/Best1tm1Web
Genetic Background: involves: CD-1

 MP:0004030 induced chromosome breakage "chromosome breakage following treatment with a DNA-damaging agent " [llw2:Linda Washburn , Mouse Genome Informatics Curator]
Show

Allelic Composition: Best1tm1Web/Best1tm1Web
Genetic Background: involves: CD-1

 MP:0004852 decreased testis weight "reduced average weight of the male reproductive glands" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Best1tm1Web/Best1tm1Web
Genetic Background: involves: CD-1

 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: Best1tm1Web/Best1tm1Web
Genetic Background: involves: CD-1

 MP:0006378 abnormal spermatogonia morphology "anomaly in the number, structure or development of the large unspecialized male germ cells that give rise to spermatocytes" [ISBN:0-8036-0655-99 "Taber s Cyclopedic Medical Dictionary, 19th edition", MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Best1tm1Web/Best1tm1Web
Genetic Background: involves: CD-1

 MP:0008008 early cellular replicative senescence "increase in the progression of the process in which a cell progresses from its inception to the end of its lifespan, which occurs as the cell continues cycles of growth and division" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Best1tm1Web/Best1tm1Web
Genetic Background: involves: CD-1

 MP:0008057 abnormal DNA replication "any anomaly in the process whereby new strands of DNA are synthesized" [GO:0006260]
Show

Allelic Composition: Best1tm1Web/Best1tm1Web
Genetic Background: involves: CD-1

 MP:0008390 abnormal primordial germ cell proliferation "anomaly in the ability of the primordial germ cell population to undergo rapid expansion by cell division" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Best1tm1Web/Best1tm1Web
Genetic Background: involves: CD-1

 MP:0008392 decreased primordial germ cell number "reduced number of a mesodermally-derived, most primitive undifferentiated sex cell, that originates in the allantois and migrates through the hindgut and into the gonadal ridge" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Best1tm1Web/Best1tm1Web
Genetic Background: involves: CD-1

 MP:0008866 chromosomal instability "abnormalities of DNA metabolism, DNA repair, cell-cycle governance, or control of apoptosis that increase the probability that whole chromosomes or pieces of chromosomes are gained or lost during cell division, resulting in an imbalance in the number of chromosomes per cell (aneuploidy) and an enhanced rate of loss of heterozygosity" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator", PMID:12446840]
Show

Allelic Composition: Best1tm1Web/Best1tm1Web
Genetic Background: involves: CD-1

 MP:0008966 abnormal chiasmata formation "atypical contact between nonsister chromatids of homologous chromosomes during meiosis I, precluding formation of the expected number of cross-shaped configurations representing recombination events" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Best1tm1Web/Best1tm1Web
Genetic Background: involves: CD-1

 MP:0009092 endometrium hyperplasia "overdevelopment or increased size, usually due an increased number of cells, of the glandular mucous membrane lining of the uterine cavity that is hormonally responsive during the estrous/menstrual cycle and during pregnancy" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Best1tm1Web/Best1tm1Web
Genetic Background: involves: CD-1

 MP:0009308 adenocarcinoma "malignant neoplasm of epithelial cells in a glandular or glandular-like pattern" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Best1tm1Web/Best1tm1Web
Genetic Background: involves: CD-1

 MP:0009362 abnormal primary ovarian follicle morphology "any structural abnormality in the ovarian follicle prior to the appearance of an antrum, normally marked by developmental changes in the primary oocyte and follicular cells so that the latter form one or more layers of cuboidal or columnar cells; the follicle becomes surrounded by a sheath of stroma, the theca" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Best1tm1Web/Best1tm1Web
Genetic Background: involves: CD-1

 MP:0010383 increased adenoma incidence "greater than the expected number of a benign epithelial neoplasm with a glandular organization, occurring in a specific population in a given time period; this tumor type usually does not invade or infiltrate surrounding tissue but may remain a benign tumor or progress to malignancy" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MESH:C04.557.470.035]
Show

Allelic Composition: Best1tm1Web/Best1tm1Web
Genetic Background: involves: CD-1

 MP:0010948 abnormal double-strand DNA break repair "any annomaly in the process of repair of double-strand breaks in DNA via homologous and nonhomologous mechanisms to reform a continuous DNA helix" [GO:0006302]
Show

Allelic Composition: Best1tm1Web/Best1tm1Web
Genetic Background: involves: CD-1

 MP:0011610 abnormal primordial germ cell apoptosis "change in the timing or the number of primordial germ cells undergoing programmed cell death" [MGI:smb]
Show

Allelic Composition: Best1tm1Web/Best1tm1Web
Genetic Background: involves: CD-1

 MP:0011750 abnormal seminiferous tubule epithelium morphology "any structural anomaly of the stratified epithelial lining of the seminiferous tubules, consisting of the developing spermatozoa and the supporting Sertoli cells, which are tall, columnar type cells that line the tubule" [MGI:csmith]
Show

Allelic Composition: Best1tm1Web/Best1tm1Web
Genetic Background: involves: CD-1

 MP:0011751 abnormal X-Y chromosome synapsis during male meiosis "an anomaly in the process in which the side by side pairing and physical juxtaposition of X and Y chromosomes is created at the metaphase plate, usually resulting in incorrect sex chromosome disjunction" [MGI:llw2]
Show

Allelic Composition: Best1tm1Web/Best1tm1Web
Genetic Background: involves: CD-1

 MP:0012431 increased lymphoma incidence "greater than the expected number of neoplasms characterized by a proliferation of malignant lymphocytes in lymphoid tissue in a specific population in a given time period" [http://orcid.org/0000-0001-5208-3432, MGI:csmith]
Show

Allelic Composition: Best1tm1Web/Best1tm1Web
Genetic Background: involves: CD-1

 MP:0013538 increased Harderian gland adenoma incidence "greater than the expected number of a benign epithelial neoplasm with a glandular organization arising in the Harderian gland, occurring in a specific population in a given time period " [MGI:Anna]
Show

Allelic Composition: Best1tm1Web/Best1tm1Web
Genetic Background: involves: CD-1

 MP:0014040 increased cellular sensitivity to DNA damaging agents "greater incidence of cell death following exposure to agents that cause DNA damage" [MGI:csmith]
Show

Allelic Composition: Best1tm1Web/Best1tm1Web
Genetic Background: involves: CD-1

Allelic Composition: Brip1Gt(RRI409)Byg/Brip1Gt(RRI409)Byg,Fancd2tm1Hou/Fancd2tm1Hou
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000000751 Rpa1 / Q8VEE4 / Replication protein A 70 kDa DNA-binding subunit / P27694* / replication protein A1*  / reaction / complex
 ENSMUSG00000002814 Top3a / O70157 / topoisomerase (DNA) III alpha / Q13472* / DNA topoisomerase III alpha*  / complex / reaction
 ENSMUSG00000017146 Brca1 / P48754 / Breast cancer type 1 susceptibility protein homolog / P38398* / BRCA1, DNA repair associated*  / reaction / complex
 ENSMUSG00000020380 Rad50 / RAD50 double strand break repair protein / Q92878* / AC116366.3*  / reaction / complex
 ENSMUSG00000012483 Rpa3 / Q9CQ71 / Replication protein A 14 kDa subunit / P35244* / replication protein A3*  / complex / reaction
 ENSMUSG00000026196 Bard1 / O70445 / BRCA1-associated RING domain protein 1 / Q99728* / BRCA1 associated RING domain 1*  / reaction / complex
 ENSMUSG00000028224 Nbn / Q9R207 / Nibrin / O60934*  / reaction / complex
 ENSMUSG00000035367 Rmi1 / Q9D4G9 / RecQ-mediated genome instability protein 1 / Q9H9A7* / RecQ mediated genome instability 1*  / reaction / complex
 ENSMUSG00000031583 Wrn / O09053 / Werner syndrome RecQ like helicase / Q14191*  / complex / reaction
 ENSMUSG00000039748 Exo1 / Q9QZ11 / Exonuclease 1 / Q9UQ84*  / reaction / complex
 ENSMUSG00000031928 Mre11a / Q61216 / Double-strand break repair protein MRE11 / MRE11* / P49959* / MRE11 homolog, double strand break repair nuclease*  / reaction / complex
 ENSMUSG00000037991 Rmi2 / Q3UPE3 / RecQ-mediated genome instability protein 2 / Q96E14* / RecQ mediated genome instability 2*  / complex / reaction
 ENSMUSG00000041238 Rbbp8 / Q80YR6 / retinoblastoma binding protein 8, endonuclease / Q99708* / RB binding protein 8, endonuclease*  / complex / reaction
 ENSMUSG00000025646 Atrip / Q8BMG1 / ATR-interacting protein / Q8WXE1*  / reaction / complex
 ENSMUSG00000032409 Atr / ATR serine/threonine kinase / Q13535*  / reaction / complex
 ENSMUSG00000034218 Atm / Q62388 / Serine-protein kinase ATM / Q13315* / ATM serine/threonine kinase*  / complex / reaction
 ENSMUSG00000024926 Kat5 / Q8CHK4 / Histone acetyltransferase KAT5 / Q92993* / lysine acetyltransferase 5*  / complex / reaction
 ENSMUSG00000030528 Blm / O88700 / Bloom syndrome protein homolog / P54132* / Bloom syndrome RecQ like helicase*  / complex / reaction
 ENSMUSG00000036875 Dna2 / Q6ZQJ5 / DNA replication ATP-dependent helicase/nuclease DNA2 DNA replication nuclease DNA2 DNA replication ATP-dependent helicase DNA2 / P51530* / DNA replication helicase/nuclease 2*  / complex / reaction
 ENSMUSG00000028884 Rpa2 / replication protein A2 / P15927*  / reaction / complex






 

0 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   

© Olivier Tassy / Olivier Pourquie 2007-2024
contact: otassy@igbmc.fr