BRCA1

GENE INFORMATION

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Gene name

BRCA1 (HGNC Symbol)

Synonyms

BRCC1, PPP1R53, RNF53

Description

breast cancer 1, early onset (HGNC Symbol)

Entrez gene summary

This gene encodes a nuclear phosphoprotein that plays a role in maintaining genomic stability, and it also acts as a tumor suppressor. The encoded protein combines with other tumor suppressors, DNA damage sensors, and signal transducers to form a large multi-subunit protein complex known as the BRCA1-associated genome surveillance complex (BASC). This gene product associates with RNA polymerase II, and through the C-terminal domain, also interacts with histone deacetylase complexes. This protein thus plays a role in transcription, DNA repair of double-stranded breaks, and recombination. Mutations in this gene are responsible for approximately 40% of inherited breast cancers and more than 80% of inherited breast and ovarian cancers. Alternative splicing plays a role in modulating the subcellular localization and physiological function of this gene. Many alternatively spliced transcript variants, some of which are disease-associated mutations, have been described for this gene, but the full-length natures of only some of these variants has been described. A related pseudogene, which is also located on chromosome 17, has been identified. [provided by RefSeq, May 2009]

Chromosome

17 (Chromosome progress)

Cytoband

q21.31

Chromosome location (bp)

41196312 - 41277500

Ensembl

ENSG00000012048 (version 73.37)

Entrez gene

672

UniProt

P38398 (UniProt - Evidence at protein level)

neXtProt

NX_P38398

Antibodypedia

BRCA1 antibodies
 

PROTEIN VIEW

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BRCA1-001
 
BRCA1-002
 
BRCA1-003
 
BRCA1-004
 
BRCA1-005
 
BRCA1-006
 
BRCA1-007
 
BRCA1-008
 
BRCA1-009
 
BRCA1-010
 
BRCA1-011
 
BRCA1-013
 
BRCA1-014
 
BRCA1-015
 
BRCA1-016
 
BRCA1-017
 
BRCA1-018
 
BRCA1-019
 
BRCA1-020
 
BRCA1-022
 
BRCA1-023
 
BRCA1-024
 
BRCA1-025
 
BRCA1-026
 
BRCA1-201
 
BRCA1-202
 
BRCA1-203
 
BRCA1-204
 
BRCA1-205
 
 » 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

BRCA1-001 ENSP00000350283
ENST00000357654
P38398
Show all »
Show » Show » 1863 207.7 No 0
BRCA1-002 ENSP00000420253
ENST00000492859
E9PC22
Show all »
Show » Show » 59 6.7 No 0
BRCA1-003 ENSP00000418986
ENST00000497488
C9IZW4
Show all »
Show » Show » 177 20 No 0
BRCA1-004 ENSP00000419988
ENST00000477152
E9PH68
Show all »
Show » Show » 622 70 No 0
BRCA1-005 ENSP00000418960
ENST00000471181
E9PFC7
Show all »
Show » Show » 1884 210.3 No 0
BRCA1-006 ENSP00000418775
ENST00000493795
E9PFZ0
Show all »
Show » Show » 1816 202.3 No 0
BRCA1-007 ENSP00000417148
ENST00000468300
P38398
Show all »
Show » Show » 699 78.2 No 0
BRCA1-008 ENSP00000418819
ENST00000493919
B7ZA85
Show all »
Show » Show » 572 63.6 No 0
BRCA1-009 ENSP00000420412
ENST00000478531
E7EUM2
Show all »
Show » Show » 623 69.5 No 0
BRCA1-010 ENSP00000418548
ENST00000461221
E7EN90
Show all »
Show » Show » 63 7.2 No 0
BRCA1-011 ENSP00000419274
ENST00000470026
E7EWN5
Show all »
Show » Show » 649 73.1 No 0
BRCA1-013 ENSP00000419103
ENST00000494123
Q3B891
Show all »
Show » Show » 473 53.4 No 0
BRCA1-014 ENSP00000420705
ENST00000491747
E7ETR2
Show all »
Show » Show » 759 85 No 0
BRCA1-015 ENSP00000419481
ENST00000484087
H0Y8B8
Show all »
Show » Show » 498 55.5 No 0
BRCA1-016 ENSP00000420781
ENST00000489037
E7ENB7
Show all »
Show » Show » 98 11.2 No 0
BRCA1-017 ENSP00000417554
ENST00000476777
E7EQW4
Show all »
Show » Show » 222 25.1 No 0
BRCA1-018 ENSP00000420201
ENST00000473961
Q4EW25
Show all »
Show » 319 35.9 No 0
BRCA1-019 ENSP00000418212
ENST00000487825
H0Y881
Show all »
Show » Show » 266 29.5 No 0
BRCA1-020 ENSP00000417988
ENST00000461798
E7EN90
Show all »
Show » Show » 63 7.2 No 0
BRCA1-022 ENSP00000417241
ENST00000461574
G4V4Z8
Show all »
Show » 242 26.3 No 0
BRCA1-023 ENSP00000465818
ENST00000586385
C6YB45
Show all »
Show » Show » 173 19.8 No 0
BRCA1-024 ENSP00000467329
ENST00000591534
K7EPC7
Show all »
Show » Show » 354 39.8 No 0
BRCA1-025 ENSP00000465347
ENST00000591849
K7EJW3
Show all »
Show » Show » 96 10.9 No 0
BRCA1-026 ENSP00000397145
ENST00000412061
C9IZW4
Show all »
Show » Show » 437 49 No 0
BRCA1-201 ENSP00000310938
ENST00000309486
E7EP70
Show all »
Show » Show » 1567 174.4 No 0
BRCA1-202 ENSP00000246907
ENST00000346315
E7EMP0
Show all »
Show » Show » 1624 181.4 No 0
BRCA1-203 ENSP00000338007
ENST00000351666
G3XAC3
Show all »
Show » Show » 680 76.2 No 0
BRCA1-204 ENSP00000312236
ENST00000352993
P38398
Show all »
Show » Show » 721 80.6 No 0
BRCA1-205 ENSP00000326002
ENST00000354071
F8W8H7
Show all »
Show » Show » 1598 178.3 No 0