Brip1 BRCA1 interacting protein C-terminal helicase 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Brip1provided by MGI
Official Full Name: BRCA1 interacting protein C-terminal helicase 1provided by MGI
Primary source: MGI:MGI:2442836
See related: Ensembl:ENSMUSG00000034329 AllianceGenome:MGI:2442836
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: OF; FACJ; Bach1; Fancj; 3110009N10Rik; 8030460J03Rik
Summary: This gene encodes a member of the DEAH subfamily of DEAD box helicases. A similar protein in humans is both a DNA-dependent ATPase and a 5-prime-to-3-prime DNA helicase, and plays a role in the repair of DNA double stranded breaks through interaction with the breast cancer-associated tumor suppressor BRCA1. [provided by RefSeq, Feb 2011]
Expression: Biased expression in CNS E11.5 (RPKM 1.7), liver E14 (RPKM 1.5) and 13 other tissues See more
Orthologs: human all
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Genomic context

Location:: 11 C; 11 51.61 cM

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (85948957..86092041, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (86058136..86201215, complement)

Chromosome 11 - NC_000077.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The DNA helicase FANCJ (BRIP1) functions in double strand break repair processing, but not crossover formation during prophase I of meiosis in male mice.
Title: The DNA helicase FANCJ (BRIP1) functions in double strand break repair processing, but not crossover formation during prophase I of meiosis in male mice.
Rare variants in FANCJ induce premature ovarian insufficiency in humans and mice.
Title: Rare variants in FANCJ induce premature ovarian insufficiency in humans and mice.
A Novel Role for BRIP1/FANCJ in Neuronal Cells Health and in Resolving Oxidative Stress-Induced DNA Lesions.
Title: A Novel Role for BRIP1/FANCJ in Neuronal Cells Health and in Resolving Oxidative Stress-Induced DNA Lesions.
FANCJ play roles in spermatogenesis at two stages: firstly in the proliferative activity that gives rise to the full complement of testicular spermatogonia and secondly in the establishment of appropriate crossovers numbers during prophase I.
Title: FancJ (Brip1) loss-of-function allele results in spermatogonial cell depletion during embryogenesis and altered processing of crossover sites during meiotic prophase I in mice.
Review of the functions and disease associations of human FANCJ.
Title: FANCJ: solving problems in DNA replication.
Compares the human homolog to other members of the RecQ helicase family
Title: SUVi and BACH1: a new subfamily of mammalian helicases?

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (6) 1 citation
Gene trapped (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11Fpm28 (e-PCR)
- UniSTS:510472

D11Fpm31 (e-PCR)
- UniSTS:510473

D11Fpm32 (e-PCR)
- UniSTS:510474

D10Chm1 (e-PCR)
- UniSTS:518141

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables 4 iron, 4 sulfur cluster binding	IEA Inferred from Electronic Annotation more info
enables 5'-3' DNA helicase activity	ISO Inferred from Sequence Orthology more info
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables DNA helicase activity	IBA Inferred from Biological aspect of Ancestor more info
enables RNA helicase activity	IEA Inferred from Electronic Annotation more info
enables chromatin binding	ISO Inferred from Sequence Orthology more info
enables helicase activity	IEA Inferred from Electronic Annotation more info
enables hydrolase activity	IEA Inferred from Electronic Annotation more info
enables hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides	IEA Inferred from Electronic Annotation more info
enables iron-sulfur cluster binding	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables nucleic acid binding	IEA Inferred from Electronic Annotation more info
enables nucleotide binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within DNA damage response	IEA Inferred from Electronic Annotation more info
involved_in DNA repair	NAS Non-traceable Author Statement more info	PubMed
acts_upstream_of_or_within chiasma assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in double-strand break repair involved in meiotic recombination	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within double-strand break repair involved in meiotic recombination	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within homologous chromosome pairing at meiosis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in homologous recombination	NAS Non-traceable Author Statement more info	PubMed
acts_upstream_of_or_within male gonad development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within meiotic DNA double-strand break processing involved in reciprocal meiotic recombination	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of cell population proliferation	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of gene expression	ISO Inferred from Sequence Orthology more info
involved_in nucleobase-containing compound metabolic process	IEA Inferred from Electronic Annotation more info
involved_in nucleotide-excision repair	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein-DNA covalent cross-linking repair	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within seminiferous tubule development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within spermatid development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within spermatogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within spermatogonial cell division	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of BRCA1-B complex	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in nuclear membrane	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in nucleus	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: Fanconi anemia group J protein homolog

Names: ATP-dependent RNA helicase BRIP1; BRCA1-associated C-terminal helicase 1

NP_840094.1

EC 3.6.4.12

XP_036012556.1

EC 3.6.4.12

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

NM_178309.2 → NP_840094.1 Fanconi anemia group J protein homolog

See identical proteins and their annotated locations for NP_840094.1

Status: REVIEWED

Source sequence(s)

AK051878, AK080771, BC094252, CJ240209

Consensus CDS

CCDS25197.1

UniProtKB/Swiss-Prot

Q5SXJ3, Q8BJQ8, Q8BKI6

Related

ENSMUSP00000043108.4, ENSMUST00000044423.4

Conserved Domains (3) summary

TIGR00604
Location:248 → 884

rad3; DNA repair helicase (rad3)

pfam06733
Location:251 → 418

DEAD_2; DEAD_2

pfam13307
Location:683 → 869

Helicase_C_2; Helicase C-terminal domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000077.7 Reference GRCm39 C57BL/6J

Range

85948957..86092041 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036156663.1 → XP_036012556.1 Fanconi anemia group J protein homolog isoform X1

Conserved Domains (2) summary

TIGR00604
Location:20 → 810

rad3; DNA repair helicase (rad3)

cd18788
Location:573 → 778

SF2_C_XPD; C-terminal helicase domain of xeroderma pigmentosum group D (XPD) family DEAD-like helicases