BRCA1 BRCA1 DNA repair associated [Homo sapiens (human)] - Gene

Summary

Official Symbol: BRCA1provided by HGNC
Official Full Name: BRCA1 DNA repair associatedprovided by HGNC
Primary source: HGNC:HGNC:1100
See related: Ensembl:ENSG00000012048 MIM:113705
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: IRIS; PSCP; BRCAI; BRCC1; FANCS; PNCA4; RNF53; BROVCA1; PPP1R53
Summary: This gene encodes a 190 kD nuclear phosphoprotein that plays a role in maintaining genomic stability, and it also acts as a tumor suppressor. The BRCA1 gene contains 22 exons spanning about 110 kb of DNA. 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 2020]
Expression: Broad expression in testis (RPKM 5.2), lymph node (RPKM 3.3) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q21.31

Exon count:: 24

Annotation release	Status	Assembly	Chr	Location
109.20210514	current	GRCh38.p13 (GCF_000001405.39)	17	NC_000017.11 (43044295..43125364, complement)
105.20201022	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (41196312..41277381, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Transcriptome Patterns of BRCA1- and BRCA2- Mutated Breast and Ovarian Cancers.
Title: Transcriptome Patterns of BRCA1- and BRCA2- Mutated Breast and Ovarian Cancers.
Endometrial Cancer, BRCA1, and BRCA2 in the UK Biobank Cohort.
Title: Endometrial Cancer, BRCA1, and BRCA2 in the UK Biobank Cohort.
A transcription-based mechanism for oncogenic beta-catenin-induced lethality in BRCA1/2-deficient cells.
Title: A transcription-based mechanism for oncogenic β-catenin-induced lethality in BRCA1/2-deficient cells.
Homologous recombination deficiency: how genomic signatures are generated.
Title: Homologous recombination deficiency: how genomic signatures are generated.
Double heterozygotes of BRCA1/BRCA2 and mismatch repair gene pathogenic variants: case series and clinical implications.
Title: Double heterozygotes of BRCA1/BRCA2 and mismatch repair gene pathogenic variants: case series and clinical implications.
Making Sense of a Health Threat: Illness Representations, Coping, and Psychological Distress among BRCA1/2 Mutation Carriers.
Title: Making Sense of a Health Threat: Illness Representations, Coping, and Psychological Distress among BRCA1/2 Mutation Carriers.
Novel and recurrent BRCA1/BRCA2 germline mutations in patients with breast/ovarian cancer: a series from the south of Tunisia.
Title: Novel and recurrent BRCA1/BRCA2 germline mutations in patients with breast/ovarian cancer: a series from the south of Tunisia.
BRCA1-BRCT Mutations Alter the Subcellular Localization of BRCA1 In Vitro.
Title: BRCA1-BRCT Mutations Alter the Subcellular Localization of BRCA1 In Vitro.
Optimization of prediction methods for risk assessment of pathogenic germline variants in the Japanese population.
Title: Optimization of prediction methods for risk assessment of pathogenic germline variants in the Japanese population.
Double heterozygosity for TP53 and BRCA1 mutations: clinical implications in populations with founder mutations.
Title: Double heterozygosity for TP53 and BRCA1 mutations: clinical implications in populations with founder mutations.

Submit: New GeneRIF Correction See all GeneRIFs (2338)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Professional guidelines

Description
Professional guideline ACMG 2013 The ACMG recommends that laboratories performing clinical sequencing seek and report mutations in BRCA1 that are pathogenic or expected to be pathogenic. GuidelinePubMed

Associated conditions

Description	Tests
Breast-ovarian cancer, familial 1 MedGen: C2676676 OMIM: 604370 GeneReviews: BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer	Compare labs
Familial cancer of breast MedGen: C0346153 OMIM: 114480 GeneReviews: BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer	Compare labs
Fanconi anemia, complementation group S MedGen: C4554406 OMIM: 617883 GeneReviews: Fanconi Anemia	Compare labs
Hereditary breast and ovarian cancer syndrome MedGen: C0677776 GeneReviews: BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer	Compare labs
Pancreatic cancer 4 MedGen: C3280442 OMIM: 614320 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of breast cancer 1, early onset (BRCA1) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	HIV-1 Tat associates with BRCA1 in cells and the amino-acid 504-802 region of BRCA1 physically interacts with HIV-1 Tat	PubMed
	tat	BRCA1 enhances HIV-1 Tat-dependent transcription in cells, and BRCA1 phosphorylation at positions S1387, S1423, S1457, and S1524 is important for the enhancement of Tat-dependent transcription	PubMed
Vpr	vpr	HIV-1 Vpr stimulates the focus formation of Rad51 and BRCA1, which are involved in repair of DNA double-strand breaks (DSBs) by homologous recombination (HR)	PubMed
	vpr	HIV-1 Vpr induces phosphorylation of BRCA1 at serine 1423 in an ATR-dependent manner	PubMed
	vpr	HIV-1 Vpr expression in HeLa cells induces formation of nuclear foci containing H2AFX and BRCA1	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:454458 (e-PCR)
- UniSTS:157440

GDB:454462 (e-PCR)
- UniSTS:157441

GDB:454466 (e-PCR)
- UniSTS:157442

PMC280658P1 (e-PCR)
- UniSTS:272396

PMC280658P2 (e-PCR)
- UniSTS:272397

RH79896 (e-PCR)
- UniSTS:90392

PMC139147P1 (e-PCR)
- UniSTS:270874

PMC13918P1 (e-PCR)
- UniSTS:270877

NoName (e-PCR)
- UniSTS:482866

D17S1322 (e-PCR)
- UniSTS:150079

D17S1323 (e-PCR)
- UniSTS:150080

BRCA1_4046 (e-PCR)
- UniSTS:464465

G60034 (e-PCR)
- UniSTS:137300

BRCA1 (e-PCR)
- UniSTS:262743

D17S932 (e-PCR)
- UniSTS:49519

PMC110706P1 (e-PCR)
- UniSTS:270193

PMC310899P11 (e-PCR)
- UniSTS:272801

PMC310899P12 (e-PCR)
- UniSTS:272802

PMC310899P2 (e-PCR)
- UniSTS:272804

PMC310899P3 (e-PCR)
- UniSTS:272805

PMC310899P5 (e-PCR)
- UniSTS:272806

PMC310899P6 (e-PCR)
- UniSTS:272807

PMC310899P8 (e-PCR)
- UniSTS:272808

GDB:626829 (e-PCR)
- UniSTS:158401

G10044 (e-PCR)
- UniSTS:1986

GDB:626905 (e-PCR)
- UniSTS:158402

D17S855 (e-PCR)
- UniSTS:147918

D17S1198 (e-PCR)
- UniSTS:56291

GDB:388557 (e-PCR)
- UniSTS:157159

GDB:388674 (e-PCR)
- UniSTS:157161

GDB:388688 (e-PCR)
- UniSTS:157162

D5S1597E (e-PCR)
- UniSTS:151019

GDB:389033 (e-PCR)
- UniSTS:157163

GDB:389047 (e-PCR)
- UniSTS:157164

GDB:389054 (e-PCR)
- UniSTS:157165

GDB:631944 (e-PCR)
- UniSTS:158446

GDB:391358 (e-PCR)
- UniSTS:157167

GDB:391365 (e-PCR)
- UniSTS:157168

GDB:454227 (e-PCR)
- UniSTS:157424

GDB:391372 (e-PCR)
- UniSTS:157169

GDB:454278 (e-PCR)
- UniSTS:157425

GDB:391818 (e-PCR)
- UniSTS:157170

GDB:454349 (e-PCR)
- UniSTS:157426

GDB:391825 (e-PCR)
- UniSTS:157171

GDB:454353 (e-PCR)
- UniSTS:157427

GDB:391832 (e-PCR)
- UniSTS:157172

GDB:454372 (e-PCR)
- UniSTS:157428

GDB:391839 (e-PCR)
- UniSTS:157173

GDB:454381 (e-PCR)
- UniSTS:157429

GDB:391846 (e-PCR)
- UniSTS:157174

GDB:454417 (e-PCR)
- UniSTS:157430

GDB:391853 (e-PCR)
- UniSTS:157175

GDB:454421 (e-PCR)
- UniSTS:157431

GDB:391860 (e-PCR)
- UniSTS:157176

GDB:454425 (e-PCR)
- UniSTS:157432

GDB:391867 (e-PCR)
- UniSTS:157177

GDB:454429 (e-PCR)
- UniSTS:157433

GDB:391874 (e-PCR)
- UniSTS:157178

GDB:454433 (e-PCR)
- UniSTS:157434

SHGC-151111 (e-PCR)
- UniSTS:173306

GDB:391881 (e-PCR)
- UniSTS:157179

GDB:454437 (e-PCR)
- UniSTS:157435

GDB:454441 (e-PCR)
- UniSTS:157436

GDB:454446 (e-PCR)
- UniSTS:157437

GDB:454450 (e-PCR)
- UniSTS:157438

SHGC-152118 (e-PCR)
- UniSTS:177406

GDB:454454 (e-PCR)
- UniSTS:157439

Homology

Homologs of the BRCA1 gene: The BRCA1 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, and chicken.
Orthologs from Annotation Pipeline: 291 organisms have orthologs with human gene BRCA1
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	TAS Traceable Author Statement more info	PubMed
enables RNA binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase binding	IDA Inferred from Direct Assay more info	PubMed
enables damaged DNA binding	IEA Inferred from Electronic Annotation more info
enables enzyme binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transcription cis-regulatory region binding	IDA Inferred from Direct Assay more info	PubMed
enables transcription coactivator activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables tubulin binding	NAS Non-traceable Author Statement more info	PubMed
enables ubiquitin protein ligase binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin-protein transferase activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables ubiquitin-protein transferase activity	IDA Inferred from Direct Assay more info	PubMed
enables ubiquitin-protein transferase activity	TAS Traceable Author Statement more info
enables zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in cellular response to DNA damage stimulus	TAS Traceable Author Statement more info	PubMed
involved_in cellular response to indole-3-methanol	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to tumor necrosis factor	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in centrosome cycle	IEA Inferred from Electronic Annotation more info
involved_in chordate embryonic development	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in chromosome segregation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in dosage compensation by inactivation of X chromosome	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in double-strand break repair	IDA Inferred from Direct Assay more info	PubMed
involved_in double-strand break repair	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in double-strand break repair	TAS Traceable Author Statement more info
involved_in double-strand break repair via homologous recombination	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in double-strand break repair via homologous recombination	IDA Inferred from Direct Assay more info	PubMed
involved_in fatty acid biosynthetic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within intrinsic apoptotic signaling pathway in response to DNA damage	IDA Inferred from Direct Assay more info	PubMed
involved_in mitotic G2 DNA damage checkpoint signaling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of centriole replication	NAS Non-traceable Author Statement more info	PubMed
involved_in negative regulation of extrinsic apoptotic signaling pathway via death domain receptors	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of fatty acid biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in negative regulation of fatty acid biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of histone H3-K4 methylation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of histone H3-K9 methylation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of histone acetylation	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in negative regulation of intracellular estrogen receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of reactive oxygen species metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of transcription, DNA-templated	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of DNA repair	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of angiogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of histone H3-K4 methylation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of histone H3-K9 acetylation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of histone H3-K9 methylation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of histone H4-K16 acetylation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of histone H4-K20 methylation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of histone acetylation	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in positive regulation of histone acetylation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of protein ubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription, DNA-templated	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of vascular endothelial growth factor production	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in postreplication repair	IDA Inferred from Direct Assay more info	PubMed
involved_in protein K6-linked ubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in protein autoubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in protein ubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of DNA methylation	IEA Inferred from Electronic Annotation more info
involved_in regulation of cell cycle	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of gene expression by genetic imprinting	IEA Inferred from Electronic Annotation more info
involved_in regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to estrogen	IDA Inferred from Direct Assay more info	PubMed
involved_in response to ionizing radiation	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of BRCA1-A complex	IBA Inferred from Biological aspect of Ancestor more info	PubMed
part_of BRCA1-A complex	IDA Inferred from Direct Assay more info	PubMed
part_of BRCA1-BARD1 complex	IBA Inferred from Biological aspect of Ancestor more info	PubMed
part_of BRCA1-BARD1 complex	IDA Inferred from Direct Assay more info	PubMed
located_in chromosome	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
part_of gamma-tubulin large complex	NAS Non-traceable Author Statement more info	PubMed
located_in lateral element	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear body	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed
part_of ribonucleoprotein complex	IDA Inferred from Direct Assay more info	PubMed
part_of ubiquitin ligase complex	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: breast cancer type 1 susceptibility protein

Names: BRCA1/BRCA2-containing complex, subunit 1; Fanconi anemia, complementation group S; RING finger protein 53; breast and ovarian cancer susceptibility protein 1; breast cancer 1, early onset; early onset breast cancer 1; protein phosphatase 1, regulatory subunit 53

NP_009225.1

EC 2.3.2.27

NP_009228.2

EC 2.3.2.27

NP_009229.2

EC 2.3.2.27

NP_009230.2

EC 2.3.2.27

NP_009231.2

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.

Genomic

NG_005905.2 RefSeqGene

Range

92501..173689

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_292

mRNA and Protein(s)

NM_007294.4 → NP_009225.1 breast cancer type 1 susceptibility protein isoform 1

See identical proteins and their annotated locations for NP_009225.1

Status: REVIEWED

Description

Transcript Variant: This variant (1, also known as BRCA1a) represents the more frequently occurring transcript. It encodes the full-length BRCA1 protein (isoform 1), which is also known as p220.

Source sequence(s)

AL701927, BC072418, BU617173, BU679389, U14680

Consensus CDS

CCDS11453.1

UniProtKB/Swiss-Prot

P38398

Related

ENSP00000350283.3, ENST00000357654.9

Conserved Domains (4) summary

smart00292
Location:1758 → 1842

BRCT; breast cancer carboxy-terminal domain

cd00027
Location:1650 → 1724

BRCT; Breast Cancer Suppressor Protein (BRCA1), carboxy-terminal domain. The BRCT domain is found within many DNA damage repair and cell cycle checkpoint proteins. The unique diversity of this domain superfamily allows BRCT modules to interact forming homo ...

cd00162
Location:23 → 68

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 ...

pfam12820
Location:345 → 507

BRCT_assoc; Serine-rich domain associated with BRCT
NM_007297.4 → NP_009228.2 breast cancer type 1 susceptibility protein isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region and uses a downstream translational start codon, compared to variant 1. The encoded isoform (3) is shorter at the N-terminus, compared to isoform 1.

Source sequence(s)

BC072418, BU617173, BU679389, U14680

Consensus CDS

CCDS11459.2

UniProtKB/Swiss-Prot

P38398

Related

ENSP00000418775.1, ENST00000493795.5

Conserved Domains (3) summary

smart00292
Location:1711 → 1795

BRCT; breast cancer carboxy-terminal domain

cd00027
Location:1603 → 1677

BRCT; Breast Cancer Suppressor Protein (BRCA1), carboxy-terminal domain. The BRCT domain is found within many DNA damage repair and cell cycle checkpoint proteins. The unique diversity of this domain superfamily allows BRCT modules to interact forming homo ...

pfam12820
Location:298 → 460

BRCT_assoc; Serine-rich domain associated with BRCT
NM_007298.3 → NP_009229.2 breast cancer type 1 susceptibility protein isoform 4

See identical proteins and their annotated locations for NP_009229.2

Status: REVIEWED

Description

Transcript Variant: This variant (4, also known as BRCA1-delta11b) differs in the 5' UTR and uses two alternate in-frame splice sites in the central coding region, compared to variant 1. The encoded isoform (4) is shorter than isoform 1.

Source sequence(s)

AL701927, BC072418, BU617173, BU679389, U64805

Consensus CDS

CCDS11454.2

UniProtKB/Swiss-Prot

P38398

UniProtKB/TrEMBL

A0A024R1V0

Related

ENSP00000420705.2, ENST00000491747.6

Conserved Domains (3) summary

smart00292
Location:654 → 738

BRCT; breast cancer carboxy-terminal domain

cd00027
Location:546 → 620

BRCT; Breast Cancer Suppressor Protein (BRCA1), carboxy-terminal domain. The BRCT domain is found within many DNA damage repair and cell cycle checkpoint proteins. The unique diversity of this domain superfamily allows BRCT modules to interact forming homo ...

cd00162
Location:23 → 68

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 ...
NM_007299.4 → NP_009230.2 breast cancer type 1 susceptibility protein isoform 5

See identical proteins and their annotated locations for NP_009230.2

Status: REVIEWED

Description

Transcript Variant: This variant (5) differs in the 5' UTR, uses two alternate in-frame splice sites in the central coding region, and lacks an alternate exon in the 3' coding region that results in a frameshift, compared to variant 1. The encoded isoform (5) is shorter and has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

BC072418, BU617173, BU679389

Consensus CDS

CCDS11455.2

UniProtKB/Swiss-Prot

P38398

Related

ENSP00000417148.1, ENST00000468300.5

Conserved Domains (2) summary

pfam00533
Location:546 → 619

BRCT; BRCA1 C Terminus (BRCT) domain

cd16498
Location:18 → 65

RING-HC_BRCA1; RING finger, HC subclass, found in breast cancer type 1 susceptibility protein (BRCA1) and similar proteins
NM_007300.4 → NP_009231.2 breast cancer type 1 susceptibility protein isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) includes an alternate in-frame exon and an alternate in-frame splice site in the central coding region, compared to variant 1. The encoded isoform (2) is longer than isoform 1.

Source sequence(s)

AC135721, BC072418, BC115037, BU617173, BU679389, U14680

Consensus CDS

CCDS11456.2

UniProtKB/Swiss-Prot

P38398

Related

ENSP00000418960.2, ENST00000471181.7

Conserved Domains (4) summary

smart00292
Location:1779 → 1863

BRCT; breast cancer carboxy-terminal domain

cd00027
Location:1671 → 1745

BRCT; Breast Cancer Suppressor Protein (BRCA1), carboxy-terminal domain. The BRCT domain is found within many DNA damage repair and cell cycle checkpoint proteins. The unique diversity of this domain superfamily allows BRCT modules to interact forming homo ...

cd00162
Location:23 → 68

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 ...

pfam12820
Location:345 → 507

BRCT_assoc; Serine-rich domain associated with BRCT

RNA

NR_027676.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (6) includes an alternate 5' exon and alternate splice sites in two internal exons, compared to variant 1. This variant is represented as non-coding because the use of the supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC135721, AF005068, AK308084, BC072418, BU617173, BU679389, U14680

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

NC_000017.11 Reference GRCh38.p13 Primary Assembly

Range

43044295..43125364 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_007295.2: Suppressed sequence

Description

NM_007295.2: This RefSeq was permanently suppressed because only partial transcript evidence exists for this transcript variant, and its full-length exon combination is unclear.
NM_007296.2: Suppressed sequence

Description

NM_007296.2: This RefSeq was permanently suppressed because there is no full-length transcript support for the exon combination of this variant.
NM_007301.2: Suppressed sequence

Description

NM_007301.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
NM_007302.2: Suppressed sequence

Description

NM_007302.2: This RefSeq was permanently suppressed because only partial transcript evidence exists for this transcript variant, and its full-length exon combination is unclear.
NM_007303.2: Suppressed sequence

Description

NM_007303.2: This RefSeq was permanently suppressed because the full-length sequence of this transcript variant is unavailable, and its full-length exon combination is unclear.
NM_007305.2: Suppressed sequence

Description

NM_007305.2: This RefSeq was permanently suppressed because the full-length sequence of this transcript variant is unavailable, and its full-length exon combination is unclear.
NM_007306.2: Suppressed sequence

Description

NM_007306.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.