Gene: Brip1

Basic information

Tag Content
Uniprot ID Q5SXJ3; Q8BJQ8; Q8BKI6;
Entrez ID 237911
Genbank protein ID AAH94252.1; BAC38016.1; BAC34798.2;
Genbank nucleotide ID NM_178309.2; XM_006533239.2;
Ensembl protein ID ENSMUSP00000043108
Ensembl nucleotide ID ENSMUSG00000034329
Gene name Fanconi anemia group J protein homolog
Gene symbol Brip1
Organism Mus musculus
NCBI taxa ID 10090
Cleft type
Developmental stage
Data sources Homology search
Reference
Functional description DNA-dependent ATPase and 5' to 3' DNA helicase required for the maintenance of chromosomal stability. Acts late in the 'Fanconi anemia' pathway, after FANCD2 ubiquitination. Involved in the repair of DNA double-strand breaks by homologous recombination in a manner that depends on its association with BRCA1 (By similarity).
Sequence
MSSVLSDYTI GGVKIHFPCR AYPAQLAMMN SIVRGLNSSQ HCLLESPTGS GKSLALLCSA 60
LAWQQSLSEK PVDEGLNKKP EAPPSCSCAC HSKNFTYSDT NLDTSPHFNS PSKPSSGRNG 120
VSTPCQDSPE KNTLAAKLSA KKQASIHRDE DDDFQVEKKR IRPLETTQQI RKRHCLEKDV 180
HHVDARLASE KRVKPESPIG KSFSDRKDSF QNVDGLCSRC CCSAKQGNNQ EPANTVKKDH 240
GGQCKRPKIY FGTRTHKQIA QITRELRKTA YSGVPMTILS SRDHSCVHPE VVGNFNRKEK 300
CMELLDGKHG KSCYFYHGVH KISNQQTLQH LQGMSRAWDI EELVSLGRKL KACPYYTARE 360
LIEDADIVFC PYNYLLDSQI RETMDIKLKG QVVILDEAHN IEDCARESAS YSVTEVQLRF 420
ARDELDSLIN GNIRKKSHEP LRDVCYNLIN WLETNSKHLV ERGYESSCKI WSGNEMLLNL 480
YRMGITTATF PVLQRHLSAV LQKEEKVTPI HGKEEAIQIP IISASTQVVL KGLFMVLDYL 540
FRENSRFADD YKVAIQQTYS WTNQIAIFDK TGVLAVPKNK KHSRQKIGVN ALNFWCLNPA 600
VAFSDINDKV RTIVLTSGTL SPLKSFSSEL GVTFSIQLEA NHVISNSQVW VGTVGSGPKG 660
RNLCATFQHT ETFEFQDEVG MLLLSVCQTV SQGILCFLPS YKLLEKLRER WIFTGLWHSL 720
ESVKTVIAEP QGGEKTDFDE LLQVYYDAIK FKGEKDGALL IAVCRGKVSE GLDFSDDNAR 780
AVITVGIPFP NVKDLQVELK RQYNDHHSKS RGLLPGRQWY EIQAYRALNQ ALGRCIRHKN 840
DWGALILVDD RFNNNPNRYI SGLSKWVRQQ IQHHSSFASA LESLTEFSRR HQKVTNRSKK 900
DEKCTKDNEP TLEVACLEDS TFTSVSESSH QSPENSTEEA EVCVQELQCP QVATKSPSVA 960
SHGVSRRKKS DPGLRGESLQ TMKTEKNEIS RSSSPTFGKQ TEPVNWPIFN SLRRHFNSKV 1020
KNCTPVLKSS KNRAPGSSTF NKTALPLTGN CVPSNETADT SLGPCLQSEV IISPVKIEAT 1080
PATNYSKQVF CCEKDLLPDT ELSPGTEEAK CPSSNKAAET EVDDDSECFT PELFDPVDTN 1140
EENGELVETD RSSHSSDCFS AEELFETATG FGQK 1174

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologBRIP1A0A452EU29Capra hircusPredictionMore>>
1:1 orthologBRIP183990Q9BX63Homo sapiensPublicationMore>>
1:1 orthologBrip1237911Q5SXJ3Mus musculusPredictionMore>>
1:1 orthologBRIP1454796H2QDL5Pan troglodytesPredictionMore>>
1:1 orthologBrip1360588A0A0G2K475Rattus norvegicusPredictionMore>>
1:1 orthologbrip1794038B7ZDD5Danio rerioPredictionMore>>

Other genetic variants/mutations

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0003677 DNA bindingIEA
GO:0003678 DNA helicase activityIBA
GO:0003682 chromatin bindingISO
GO:0003724 RNA helicase activityIEA
GO:0005524 ATP bindingIEA
GO:0046872 metal ion bindingIEA
GO:0051539 4 iron, 4 sulfur cluster bindingIEA

GO:Biological Process

GO ID GO Term Evidence
GO:0006289 nucleotide-excision repairIBA
GO:0006357 regulation of transcription by RNA polymerase IIISO
GO:0007129 synapsisIMP
GO:0007283 spermatogenesisIMP
GO:0007284 spermatogonial cell divisionIMP
GO:0007286 spermatid developmentIMP
GO:0008285 negative regulation of cell population proliferationISO
GO:0008584 male gonad developmentIMP
GO:0009636 response to toxic substanceIEA
GO:0010629 negative regulation of gene expressionISO
GO:0010705 meiotic DNA double-strand break processing involved in reciprocal meiotic recombinationIMP
GO:0032508 DNA duplex unwindingIEA
GO:0051026 chiasma assemblyIMP
GO:0071295 cellular response to vitaminIEA
GO:0071456 cellular response to hypoxiaIEA
GO:0072520 seminiferous tubule developmentIMP
GO:1904385 cellular response to angiotensinIEA
GO:1990918 double-strand break repair involved in meiotic recombinationIBA
GO:1990918 double-strand break repair involved in meiotic recombinationIMP

GO:Cellular Component

GO ID GO Term Evidence
GO:0005634 nucleusISO
GO:0005634 nucleusISS
GO:0005634 nucleusIBA
GO:0005654 nucleoplasmISO
GO:0005737 cytoplasmISO
GO:0005737 cytoplasmISS
GO:0031965 nuclear membraneISO

Reactome Pathway

Reactome ID Reactome Term Evidence
R-MMU-1640170 Cell CycleIEA
R-MMU-212436 Generic Transcription PathwayIEA
R-MMU-3700989 Transcriptional Regulation by TP53IEA
R-MMU-5633007 Regulation of TP53 ActivityIEA
R-MMU-5685938 HDR through Single Strand Annealing (SSA)IEA
R-MMU-5685942 HDR through Homologous Recombination (HRR)IEA
R-MMU-5693532 DNA Double-Strand Break RepairIEA
R-MMU-5693537 Resolution of D-Loop StructuresIEA
R-MMU-5693538 Homology Directed RepairIEA
R-MMU-5693554 Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)IEA
R-MMU-5693567 HDR through Homologous Recombination (HRR) or Single Strand Annealing (SSA)IEA
R-MMU-5693568 Resolution of D-loop Structures through Holliday Junction IntermediatesIEA
R-MMU-5693579 Homologous DNA Pairing and Strand ExchangeIEA
R-MMU-5693607 Processing of DNA double-strand break endsIEA
R-MMU-5693616 Presynaptic phase of homologous DNA pairing and strand exchangeIEA
R-MMU-6804756 Regulation of TP53 Activity through PhosphorylationIEA
R-MMU-69473 G2/M DNA damage checkpointIEA
R-MMU-69481 G2/M CheckpointsIEA
R-MMU-69620 Cell Cycle CheckpointsIEA
R-MMU-73857 RNA Polymerase II TranscriptionIEA
R-MMU-73894 DNA RepairIEA
R-MMU-74160 Gene expression (Transcription)IEA

Functional annotations

Keywords

Keyword ID Keyword Term
KW-0004 4Fe-4S
KW-0007 Acetylation
KW-0067 ATP-binding
KW-0963 Cytoplasm
KW-0227 DNA damage
KW-0234 DNA repair
KW-0347 Helicase
KW-0378 Hydrolase
KW-0408 Iron
KW-0411 Iron-sulfur
KW-0479 Metal-binding
KW-0547 Nucleotide-binding
KW-0539 Nucleus
KW-0597 Phosphoprotein
KW-1185 Reference proteome

Interpro

InterPro ID InterPro Term
IPR006555 ATP-dep_Helicase_C
IPR010614 DEAD_2
IPR014013 Helic_SF1/SF2_ATP-bd_DinG/Rad3
IPR006554 Helicase-like_DEXD_c2
IPR014001 Helicase_ATP-bd
IPR027417 P-loop_NTPase
IPR013020 Rad3/Chl1-like

PROSITE

PROSITE ID PROSITE Term
PS51193 HELICASE_ATP_BIND_2

Pfam

Pfam ID Pfam Term
PF06733 DEAD_2
PF13307 Helicase_C_2

Protein-protein interaction

Protein-miRNA interaction