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BRIP1 BRCA1 interacting protein C-terminal helicase 1 [ Homo sapiens (human) ]

Gene ID: 83990, updated on 1-Aug-2020

Summary

Official Symbol
BRIP1provided by HGNC
Official Full Name
BRCA1 interacting protein C-terminal helicase 1provided by HGNC
Primary source
HGNC:HGNC:20473
See related
Ensembl:ENSG00000136492 MIM:605882
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
OF; BACH1; FANCJ
Summary
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 (BRCA1). This gene may be a target of germline cancer-inducing mutations. [provided by RefSeq, Jul 2008]
Annotation information
Note: BACH1 (Gene ID: 571) and BRIP1 (Gene ID: 83990) share the BACH1 symbol/alias in common. BACH1 is a widely used alternative name for BRCA1 interacting protein C-terminal helicase 1 (BRIP1), which can be confused with the official symbol for BTB domain and CNC homolog 1 (BACH1). [10 Jul 2018]
Expression
Broad expression in testis (RPKM 1.9), bone marrow (RPKM 1.0) and 16 other tissues See more
Orthologs

Genomic context

See BRIP1 in Genome Data Viewer
Location:
17q23.2
Exon count:
25
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (61679139..61864120, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (59756547..59940920, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene T-box transcription factor 4 Neighboring gene nascent polypeptide associated complex subunit alpha 2 Neighboring gene VISTA enhancer hs778 Neighboring gene integrator complex subunit 2 Neighboring gene mediator complex subunit 13 Neighboring gene RNA, 7SL, cytoplasmic 800, pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2019-02-15)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2019-02-15)

ClinGen Genome Curation PagePubMed

NHGRI GWAS Catalog

Description
Gene network analysis in a pediatric cohort identifies novel lung function genes.
NHGRI GWA Catalog
Mutations in BRIP1 confer high risk of ovarian cancer.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ90232, MGC126521, MGC126523

Gene Ontology Provided by GOA

Function Evidence Code Pubs
4 iron, 4 sulfur cluster binding IEA
Inferred from Electronic Annotation
more info
 
ATP binding IEA
Inferred from Electronic Annotation
more info
 
DNA binding NAS
Non-traceable Author Statement
more info
PubMed 
DNA helicase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA helicase activity NAS
Non-traceable Author Statement
more info
PubMed 
RNA helicase activity IEA
Inferred from Electronic Annotation
more info
 
chromatin binding IEA
Inferred from Electronic Annotation
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
DNA damage checkpoint NAS
Non-traceable Author Statement
more info
PubMed 
DNA duplex unwinding IEA
Inferred from Electronic Annotation
more info
 
DNA replication TAS
Traceable Author Statement
more info
 
cellular response to angiotensin IEA
Inferred from Electronic Annotation
more info
 
cellular response to hypoxia IEA
Inferred from Electronic Annotation
more info
 
cellular response to vitamin IEA
Inferred from Electronic Annotation
more info
 
chiasma assembly IEA
Inferred from Electronic Annotation
more info
 
double-strand break repair NAS
Non-traceable Author Statement
more info
PubMed 
double-strand break repair involved in meiotic recombination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
meiotic DNA double-strand break processing involved in reciprocal meiotic recombination IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cell proliferation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of gene expression IEA
Inferred from Electronic Annotation
more info
 
nucleotide-excision repair IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of signal transduction by p53 class mediator TAS
Traceable Author Statement
more info
 
regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
 
response to toxic substance IEA
Inferred from Electronic Annotation
more info
 
seminiferous tubule development IEA
Inferred from Electronic Annotation
more info
 
spermatid development IEA
Inferred from Electronic Annotation
more info
 
spermatogonial cell division IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
nuclear membrane IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
nucleus NAS
Non-traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
Fanconi anemia group J protein
Names
ATP-dependent RNA helicase BRIP1
BRCA1-associated C-terminal helicase 1
BRCA1-binding helicase-like protein BACH1
BRCA1/BRCA2-associated helicase 1
NP_114432.2
XP_011523634.1
XP_011523635.1
XP_011523636.1
XP_011523637.1
XP_011523638.1
XP_011523639.1
XP_011523640.1
XP_011523641.1
XP_011523642.1
XP_011523643.1
XP_016880689.1
XP_016880690.1
XP_016880691.1
XP_016880692.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_007409.2 RefSeqGene

    Range
    5001..189374
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_300

mRNA and Protein(s)

  1. NM_032043.3NP_114432.2  Fanconi anemia group J protein

    See identical proteins and their annotated locations for NP_114432.2

    Status: REVIEWED

    Source sequence(s)
    AC002994, AC060798, AF360549
    Consensus CDS
    CCDS11631.1
    UniProtKB/Swiss-Prot
    Q9BX63
    UniProtKB/TrEMBL
    A0A024QZ45
    Related
    ENSP00000259008.2, ENST00000259008.7
    Conserved Domains (2) summary
    cl26203
    Location:1861
    PolC; DNA polymerase III, alpha subunit (gram-positive type) [Replication, recombination and repair]
    cl26947
    Location:245881
    HBB; Helical and beta-bridge domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20200522

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    61679139..61864120 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011525333.3XP_011523635.1  Fanconi anemia group J protein isoform X1

    See identical proteins and their annotated locations for XP_011523635.1

    Conserved Domains (3) summary
    TIGR00604
    Location:245901
    rad3; DNA repair helicase (rad3)
    pfam06733
    Location:248415
    DEAD_2; DEAD_2
    pfam13307
    Location:700886
    Helicase_C_2; Helicase C-terminal domain
  2. XM_011525335.3XP_011523637.1  Fanconi anemia group J protein isoform X2

    Conserved Domains (3) summary
    TIGR00604
    Location:245881
    rad3; DNA repair helicase (rad3)
    pfam06733
    Location:248415
    DEAD_2; DEAD_2
    pfam13307
    Location:680866
    Helicase_C_2; Helicase C-terminal domain
  3. XM_011525332.3XP_011523634.1  Fanconi anemia group J protein isoform X1

    See identical proteins and their annotated locations for XP_011523634.1

    Conserved Domains (3) summary
    TIGR00604
    Location:245901
    rad3; DNA repair helicase (rad3)
    pfam06733
    Location:248415
    DEAD_2; DEAD_2
    pfam13307
    Location:700886
    Helicase_C_2; Helicase C-terminal domain
  4. XM_011525337.2XP_011523639.1  Fanconi anemia group J protein isoform X4

    Conserved Domains (3) summary
    TIGR00604
    Location:245834
    rad3; DNA repair helicase (rad3)
    pfam06733
    Location:248415
    DEAD_2; DEAD_2
    pfam13307
    Location:633819
    Helicase_C_2; Helicase C-terminal domain
  5. XM_011525336.2XP_011523638.1  Fanconi anemia group J protein isoform X3

    Conserved Domains (3) summary
    TIGR00604
    Location:245861
    rad3; DNA repair helicase (rad3)
    pfam06733
    Location:248415
    DEAD_2; DEAD_2
    pfam13307
    Location:660846
    Helicase_C_2; Helicase C-terminal domain
  6. XM_011525334.2XP_011523636.1  Fanconi anemia group J protein isoform X1

    See identical proteins and their annotated locations for XP_011523636.1

    Conserved Domains (3) summary
    TIGR00604
    Location:245901
    rad3; DNA repair helicase (rad3)
    pfam06733
    Location:248415
    DEAD_2; DEAD_2
    pfam13307
    Location:700886
    Helicase_C_2; Helicase C-terminal domain
  7. XM_017025200.1XP_016880689.1  Fanconi anemia group J protein isoform X6

  8. XM_011525338.2XP_011523640.1  Fanconi anemia group J protein isoform X5

    Conserved Domains (3) summary
    TIGR00604
    Location:84740
    rad3; DNA repair helicase (rad3)
    pfam06733
    Location:87254
    DEAD_2; DEAD_2
    pfam13307
    Location:539725
    Helicase_C_2; Helicase C-terminal domain
  9. XM_017025201.1XP_016880690.1  Fanconi anemia group J protein isoform X7

  10. XM_017025203.1XP_016880692.1  Fanconi anemia group J protein isoform X11

  11. XM_017025202.1XP_016880691.1  Fanconi anemia group J protein isoform X11

  12. XM_011525340.3XP_011523642.1  Fanconi anemia group J protein isoform X9

    Related
    ENSP00000464654.1, ENST00000577598.5
    Conserved Domains (2) summary
    pfam06733
    Location:248415
    DEAD_2; DEAD_2
    pfam13307
    Location:700851
    Helicase_C_2; Helicase C-terminal domain
  13. XM_011525339.3XP_011523641.1  Fanconi anemia group J protein isoform X8

    Conserved Domains (3) summary
    TIGR00604
    Location:245809
    rad3; DNA repair helicase (rad3)
    pfam06733
    Location:248415
    DEAD_2; DEAD_2
    cl21455
    Location:700814
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  14. XM_011525341.3XP_011523643.1  Fanconi anemia group J protein isoform X10

    Conserved Domains (2) summary
    TIGR00604
    Location:245648
    rad3; DNA repair helicase (rad3)
    pfam06733
    Location:248415
    DEAD_2; DEAD_2
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