• Gene id: 83990

Gene Summary

• Gene Symbol: BRIP1   Gene   UCSC   Ensembl
• Aliases: BACH1, FANCJ, OF
• Gene name: BRCA1 interacting protein C-terminal helicase 1
• Alternate names: Fanconi anemia group J protein, ATP-dependent RNA helicase BRIP1, BRCA1-associated C-terminal helicase 1, BRCA1-binding helicase-like protein BACH1, BRCA1/BRCA2-associated helicase 1,
• Gene location: 17q23.2 (61864119: 61679138)     Exons: 25     NC_000017.11
• Gene summary(Entrez): The protein encoded by this gene is a member of the RecQ DEAH helicase family and interacts with the BRCT repeats of breast cancer, type 1 (BRCA1). The bound complex is important in the normal double-strand break repair function of breast cancer, type 1 (
• OMIM: 604096

Protein Summary

• Protein general information: Q9BX63  
  • Name: Fanconi anemia group J protein (Protein FACJ) (EC 3.6.4.13) (ATP dependent RNA helicase BRIP1) (BRCA1 associated C terminal helicase 1) (BRCA1 interacting protein C terminal helicase 1) (BRCA1 interacting protein 1)
  • Length: 1249  
  • Mass: 140867
  • Tissue specificity: Ubiquitously expressed, with highest levels in testis. {ECO
• Sequence:

  MSSMWSEYTIGGVKIYFPYKAYPSQLAMMNSILRGLNSKQHCLLESPTGSGKSLALLCSALAWQQSLSGKPADEG
  VSEKAEVQLSCCCACHSKDFTNNDMNQGTSRHFNYPSTPPSERNGTSSTCQDSPEKTTLAAKLSAKKQASIYRDE
  NDDFQVEKKRIRPLETTQQIRKRHCFGTEVHNLDAKVDSGKTVKLNSPLEKINSFSPQKPPGHCSRCCCSTKQGN
  SQESSNTIKKDHTGKSKIPKIYFGTRTHKQIAQITRELRRTAYSGVPMTILSSRDHTCVHPEVVGNFNRNEKCME
  LLDGKNGKSCYFYHGVHKISDQHTLQTFQGMCKAWDIEELVSLGKKLKACPYYTARELIQDADIIFCPYNYLLDA
  QIRESMDLNLKEQVVILDEAHNIEDCARESASYSVTEVQLRFARDELDSMVNNNIRKKDHEPLRAVCCSLINWLE
  ANAEYLVERDYESACKIWSGNEMLLTLHKMGITTATFPILQGHFSAVLQKEEKISPIYGKEEAREVPVISASTQI
  MLKGLFMVLDYLFRQNSRFADDYKIAIQQTYSWTNQIDISDKNGLLVLPKNKKRSRQKTAVHVLNFWCLNPAVAF
  SDINGKVQTIVLTSGTLSPMKSFSSELGVTFTIQLEANHIIKNSQVWVGTIGSGPKGRNLCATFQNTETFEFQDE
  VGALLLSVCQTVSQGILCFLPSYKLLEKLKERWLSTGLWHNLELVKTVIVEPQGGEKTNFDELLQVYYDAIKYKG
  EKDGALLVAVCRGKVSEGLDFSDDNARAVITIGIPFPNVKDLQVELKRQYNDHHSKLRGLLPGRQWYEIQAYRAL
  NQALGRCIRHRNDWGALILVDDRFRNNPSRYISGLSKWVRQQIQHHSTFESALESLAEFSKKHQKVLNVSIKDRT
  NIQDNESTLEVTSLKYSTSPYLLEAASHLSPENFVEDEAKICVQELQCPKIITKNSPLPSSIISRKEKNDPVFLE
  EAGKAEKIVISRSTSPTFNKQTKRVSWSSFNSLGQYFTGKIPKATPELGSSENSASSPPRFKTEKMESKTVLPFT
  DKCESSNLTVNTSFGSCPQSETIISSLKIDATLTRKNHSEHPLCSEEALDPDIELSLVSEEDKQSTSNRDFETEA
  EDESIYFTPELYDPEDTDEEKNDLAETDRGNRLANNSDCILAKDLFEIRTIKEVDSAREVKAEDCIDTKLNGILH
  IEESKIDDIDGNVKTTWINELELGKTHEIEIKNFKPSPSKNKGMFPGFK

• Structural information:
  • Protein Domains: (11..44-)
    (/note="Helicase-ATP-binding)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00541"-)
  • Interpro: IPR006555  IPR010614  IPR014013  IPR006554  IPR014001   IPR027417  IPR013020  
  • Prosite: PS51193
  • PDB: 1T15 1T29 3AL3
  • PDBsum: 1T15 1T29 3AL3
  • DIP: 41787
  • STRING: ENSP00000259008
• Other Databases: GeneCards:  BRIP1  Malacards:  BRIP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005634	nucleus	IBA	cellular component
GO:1990918	double-strand break repair involved in meiotic recombination	IBA	biological process
GO:0003678	DNA helicase activity	IBA	molecular function
GO:0006289	nucleotide-excision repair	IBA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0003678	DNA helicase activity	IEA	molecular function
GO:0004386	helicase activity	IEA	molecular function
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0006139	nucleobase-containing compound metabolic process	IEA	biological process
GO:0016818	hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides	IEA	molecular function
GO:0051539	4 iron, 4 sulfur cluster binding	IEA	molecular function
GO:0006281	DNA repair	IEA	biological process
GO:0004386	helicase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0051536	iron-sulfur cluster binding	IEA	molecular function
GO:0003724	RNA helicase activity	IEA	molecular function
GO:0006357	regulation of transcription by RNA polymerase II	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:1901796	regulation of signal transduction by p53 class mediator	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006260	DNA replication	TAS	biological process
GO:0006260	DNA replication	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0071456	cellular response to hypoxia	IEA	biological process
GO:0071295	cellular response to vitamin	IEA	biological process
GO:0009636	response to toxic substance	IEA	biological process
GO:0008285	negative regulation of cell population proliferation	IEA	biological process
GO:0003682	chromatin binding	IEA	molecular function
GO:0072520	seminiferous tubule development	IEA	biological process
GO:0051026	chiasma assembly	IEA	biological process
GO:0010705	meiotic DNA double-strand break processing involved in reciprocal meiotic recombination	IEA	biological process
GO:0007286	spermatid development	IEA	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0007129	synapsis	IEA	biological process
GO:1904385	cellular response to angiotensin	IEA	biological process
GO:0010629	negative regulation of gene expression	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:1990918	double-strand break repair involved in meiotic recombination	IEA	biological process
GO:0008584	male gonad development	IEA	biological process
GO:0007284	spermatogonial cell division	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0031965	nuclear membrane	IDA	cellular component
GO:0032508	DNA duplex unwinding	IEA	biological process
GO:0032508	DNA duplex unwinding	IEA	biological process
GO:0032508	DNA duplex unwinding	IEA	biological process
GO:0006302	double-strand break repair	NAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0003677	DNA binding	NAS	molecular function
GO:0005634	nucleus	NAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0003678	DNA helicase activity	NAS	molecular function
GO:0000077	DNA damage checkpoint	NAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa03460	Fanconi anemia pathway
hsa03440	Homologous recombination

Diseases

Associated diseases	References
Fanconi anemia	KEGG:H00238
Fanconi anemia	KEGG:H00238
Fanconi anemia complementation group J	PMID:26968956
Alzheimer's disease	PMID:25391381
Down syndrome	PMID:25391381
Thrombocytopenia	PMID:15613547
Breast cancer	PMID:19536649
Breast cancer	PMID:23357080
Breast cancer	PMID:18483852
Breast cancer	PMID:17033622
Breast cancer	PMID:11301010
Breast carcinoma	PMID:18345034
Cervical squamous cell carcinoma	PMID:24708616
colorectal cancer	PMID:22526901
colorectal cancer	PMID:27165003
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray