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Gene: BRIP1 (BRCA1 interacting DNA helicase 1) Homo sapiens

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Symbol:

BRIP1

Name:

BRCA1 interacting DNA helicase 1 (Ensembl:BRCA1 interacting helicase 1)

RGD ID:

1316979

HGNC Page

HGNC:20473

Description:

Enables 5'-3' DNA helicase activity. Involved in G-quadruplex DNA unwinding and protein-DNA covalent cross-linking repair. Acts upstream of or within regulation of transcription by RNA polymerase II. Located in cytoplasm; nuclear membrane; and nucleoplasm. Part of BRCA1-B complex. Is active in replication fork. Implicated in Fanconi anemia complementation group J; breast cancer; colorectal cancer; and thrombocytopenia. Biomarker of Alzheimer's disease; Down syndrome; breast carcinoma; cervical squamous cell carcinoma; and colorectal cancer.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

ATP-dependent RNA helicase BRIP1; BACH1; BRCA1 interacting helicase 1; BRCA1 interacting protein C-terminal helicase 1; BRCA1-associated C-terminal helicase 1; BRCA1-binding helicase-like protein BACH1; BRCA1-interacting protein 1; BRCA1-interacting protein C-terminal helicase 1; BRCA1/BRCA2-associated helicase 1; DNA 5'-3' helicase FANCJ; FANCJ; FANCJ helicase; Fanconi anemia group J protein; FLJ90232; MGC126521; MGC126523; OF

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

NCBI 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]

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	17	61,679,139 - 61,863,528 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	17	61,679,139 - 61,863,559 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	17	59,756,500 - 59,940,889 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	17	57,114,767 - 57,295,537 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	17	57,114,766 - 57,295,537	NCBI
Celera	17	58,857,566 - 59,042,100 (-)	NCBI		Celera
Cytogenetic Map	17	q23.2	NCBI
HuRef	17	55,122,899 - 55,306,703 (-)	NCBI		HuRef
CHM1_1	17	59,821,037 - 60,005,473 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	17	62,547,944 - 62,734,245 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

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Model

Annotation Click to see Annotation Detail View

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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