BRCA1 BRCA1 DNA repair associated [Gallus gallus (chicken)] - Gene

Summary

Official Symbol: BRCA1provided by CGNC
Official Full Name: BRCA1 DNA repair associatedprovided by CGNC
Primary source: CGNC:2006
See related: Ensembl:ENSGALG00010024722
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Gallus gallus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Archelosauria; Archosauria; Dinosauria; Saurischia; Theropoda; Coelurosauria; Aves; Neognathae; Galloanserae; Galliformes; Phasianidae; Phasianinae; Gallus
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 27

Exon count:: 22

Annotation release	Status	Assembly	Chr	Location
106	current	bGalGal1.mat.broiler.GRCg7b (GCF_016699485.2)	27	NC_052558.1 (5148367..5169536, complement)
106	current	bGalGal1.pat.whiteleghornlayer.GRCg7w (GCF_016700215.2)	27	NC_052599.1 (6310395..6331569, complement)

Chromosome 27 - NC_052558.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

BRCA1 promotes G2 arrest and cell death by prolonging phosphorylation of Chk1 on serine 345 after DNA damage to sustain arrest.
Title: BRCA1 Is Required for Maintenance of Phospho-Chk1 and G2/M Arrest during DNA Cross-Link Repair in DT40 Cells.
All mutations, regardless of how profound their destabilizing effects, retained some DNA repair activity and partially rescued BRCA1 knockout.
Title: Protein stability versus function: effects of destabilizing missense mutations on BRCA1 DNA repair activity.
BRCA1-CtIP complex plays a role in the nuclease-mediated elimination of oligonucleotides covalently bound to polypeptides from double-strand breaks, thereby facilitating DNA repair.
Title: Collaborative action of Brca1 and CtIP in elimination of covalent modifications from double-strand breaks to facilitate subsequent break repair.
The function of CtIP in homologous recombination, but not MMEJ, is dependent on the phosphorylation of serine residue 327 and recruitment of BRCA1
Title: CtIP-BRCA1 modulates the choice of DNA double-strand-break repair pathway throughout the cell cycle.
The tumor suppressor BRCA1 tandem C-terminal BRCT2 and BRCT3 domains of Mcph1 are necessary for the formation of ionizing radiation-induced nuclear foci, while the N-terminal BRCT1 is required for centrosomal localization in irradiated cells.
Title: Distinct BRCT domains in Mcph1/Brit1 mediate ionizing radiation-induced focus formation and centrosomal localization.

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General gene information

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Gene Ontology Provided by RefSeq

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info	PubMed
enables ubiquitin-protein transferase activity	IEA Inferred from Electronic Annotation more info	PubMed
enables zinc ion binding	IEA Inferred from Electronic Annotation more info	PubMed

Process	Evidence Code	Pubs
involved_in chordate embryonic development	IEA Inferred from Electronic Annotation more info	PubMed
involved_in dosage compensation by inactivation of X chromosome	IEA Inferred from Electronic Annotation more info	PubMed
involved_in double-strand break repair via homologous recombination	IEA Inferred from Electronic Annotation more info	PubMed
involved_in negative regulation of fatty acid biosynthetic process	IEA Inferred from Electronic Annotation more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info	PubMed

Component	Evidence Code	Pubs
part_of BRCA1-A complex	IEA Inferred from Electronic Annotation more info	PubMed
part_of BRCA1-BARD1 complex	IEA Inferred from Electronic Annotation more info	PubMed
located_in nucleus	IEA Inferred from Electronic Annotation more info	PubMed
located_in plasma membrane	IEA Inferred from Electronic Annotation more info	PubMed

General protein information

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Preferred Names: breast cancer type 1 susceptibility protein

Names: breast cancer 1, early onset

NP_989500.1

EC 2.3.2.27

XP_015155047.2

EC 2.3.2.27

XP_046760270.1

EC 2.3.2.27

XP_046789154.1

EC 2.3.2.27

XP_046789155.1

EC 2.3.2.27

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_204169.1 → NP_989500.1 breast cancer type 1 susceptibility protein

See identical proteins and their annotated locations for NP_989500.1

Status: PROVISIONAL

Source sequence(s)

AF355273

UniProtKB/TrEMBL

A0A8V1A1R6, Q90Z51

Conserved Domains (4) summary

smart00292
Location:1649 → 1733

BRCT; breast cancer carboxy-terminal domain

cd00162
Location:23 → 69

RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...

pfam00533
Location:1541 → 1614

BRCT; BRCA1 C Terminus (BRCT) domain

pfam12820
Location:362 → 510

BRCT_assoc; Serine-rich domain associated with BRCT

RefSeqs of Annotated Genomes: Gallus gallus Annotation Release 106 details...

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

Reference bGalGal1.mat.broiler.GRCg7b Primary Assembly

Genomic

NC_052558.1 Reference bGalGal1.mat.broiler.GRCg7b Primary Assembly

Range

5148367..5169536 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_046904314.1 → XP_046760270.1 breast cancer type 1 susceptibility protein isoform X2

UniProtKB/TrEMBL

A0A8V1A1R6
XM_015299561.3 → XP_015155047.2 breast cancer type 1 susceptibility protein isoform X1

UniProtKB/TrEMBL

A0A8V1A1R6

Related

ENSGALP00010037130.1, ENSGALT00010060371.1

Conserved Domains (3) summary

cd16498
Location:18 → 66

RING-HC_BRCA1; RING finger, HC subclass, found in breast cancer type 1 susceptibility protein (BRCA1) and similar proteins

cd17721
Location:1650 → 1747

BRCT_BRCA1_rpt2; second (C-terminal) BRCT domain of breast cancer type 1 susceptibility protein (BRCA1) and similar proteins

cd17735
Location:1542 → 1638

BRCT_BRCA1_rpt1; first BRCT domain of breast cancer type 1 susceptibility protein (BRCA1) and similar proteins

Alternate bGalGal1.pat.whiteleghornlayer.GRCg7w

Genomic

NC_052599.1 Alternate bGalGal1.pat.whiteleghornlayer.GRCg7w

Range

6310395..6331569 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_046933199.1 → XP_046789155.1 breast cancer type 1 susceptibility protein isoform X2

UniProtKB/TrEMBL

A0A8V1A1R6
XM_046933198.1 → XP_046789154.1 breast cancer type 1 susceptibility protein isoform X1

UniProtKB/TrEMBL

A0A8V1A1R6