BRAP BRCA1 associated protein [Homo sapiens (human)] - Gene

Summary

Official Symbol: BRAPprovided by HGNC
Official Full Name: BRCA1 associated proteinprovided by HGNC
Primary source: HGNC:HGNC:1099
See related: Ensembl:ENSG00000089234 MIM:604986; AllianceGenome:HGNC:1099
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: IMP; BRAP2; RNF52
Summary: The protein encoded by this gene was identified by its ability to bind to the nuclear localization signal of BRCA1 and other proteins. It is a cytoplasmic protein which may regulate nuclear targeting by retaining proteins with a nuclear localization signal in the cytoplasm. [provided by RefSeq, Jul 2008]
Annotation information: Note: BRAP (Gene ID: 8315) and C6orf89 (Gene ID: 221477) share the BRAP symbol/alias in common. BRAP is a widely used alternative name for chromosome 6 open reading frame 89 (C6orf89), which can be confused with the official symbol for BRCA1-associated protein (BRAP). [05 Jul 2018]
Expression: Broad expression in testis (RPKM 24.8), bone marrow (RPKM 8.8) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12q24.12

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (111642146..111685956, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (111619068..111662902, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (112079950..112123760, complement)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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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?

BAP1 Loss Is Associated with Higher ASS1 Expression in Epithelioid Mesothelioma: Implications for Therapeutic Stratification.
Title: BAP1 Loss Is Associated with Higher ASS1 Expression in Epithelioid Mesothelioma: Implications for Therapeutic Stratification.
CUX2, BRAP and ALDH2 are associated with metabolic traits in people with excessive alcohol consumption.
Title: CUX2, BRAP and ALDH2 are associated with metabolic traits in people with excessive alcohol consumption.
Potential mechanisms underlying the association between single nucleotide polymorphism (BRAP and ALDH2) and hypertension among elderly Japanese population.
Title: Potential mechanisms underlying the association between single nucleotide polymorphism (BRAP and ALDH2) and hypertension among elderly Japanese population.
BRCA1-associated protein inhibits glioma cell proliferation and migration and glioma stem cell self-renewal via the TGF-beta/PI3K/AKT/mTOR signalling pathway.
Title: BRCA1-associated protein inhibits glioma cell proliferation and migration and glioma stem cell self-renewal via the TGF-β/PI3K/AKT/mTOR signalling pathway.
Mutation in BRAP gene is associated with childhood pulmonary arterial hypertension.
Title: Role of BRCA1-associated protein (BRAP) variant in childhood pulmonary arterial hypertension.
Average dietary energy in lunch, BRAP SNP rs3782886, and GHRL SNP rs696217 were associated with obesity, and BRAP rs3782886 was associated with other metabolic abnormalities
Title: Effect of dietary energy and polymorphisms in BRAP and GHRL on obesity and metabolic traits.
Six polymorphisms (rs12229654 at 12q24.1, rs671 of ALDH2, rs11066015 of ACAD10, rs2074356 and rs11066280 of HECTD4, and rs3782886 of BRAP) were found to be associated with both systolic and diastolic blood pressure, with those at 12q24.1 or in ACAD10 or BRAP being novel determinants of blood pressure in Japanese.
Title: Identification of polymorphisms in 12q24.1, ACAD10, and BRAP as novel genetic determinants of blood pressure in Japanese by exome-wide association studies.
IMPACT data were consistent with increased risks of onset among BRCA1 and BRCA2 mutation carriers
Title: Screening Men at Increased Risk for Prostate Cancer Diagnosis: Model Estimates of Benefits and Harms.
Expression of BRAP is increased in esophageal squamous cell carcinoma samples compared with non-tumor esophageal tissues; increased expression correlates with reduced patient survival time and promotes metastasis of xenograft tumors in mice.
Title: BRCA1-Associated Protein Increases Invasiveness of Esophageal Squamous Cell Carcinoma.
Together the results indicate for the first time that BRAP2 may play an important NRNI role in germ cells of the testis, with an additional, scaffold/structural role in mature spermatozoa.
Title: Interactome of the negative regulator of nuclear import BRCA1-binding protein 2.

Submit: New GeneRIF Correction See all GeneRIFs (34)

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

EBI GWAS Catalog

Description
A genome-wide association study identifies PLCL2 and AP3D1-DOT1L-SF3A2 as new susceptibility loci for myocardial infarction in Japanese. EBI GWAS Catalog EBI GWAS CatalogPubMed
Biological, clinical and population relevance of 95 loci for blood lipids. EBI GWAS Catalog EBI GWAS CatalogPubMed
Confirmation of ALDH2 as a Major locus of drinking behavior and of its variants regulating multiple metabolic phenotypes in a Japanese population. EBI GWAS Catalog EBI GWAS CatalogPubMed
Discovery and refinement of loci associated with lipid levels. EBI GWAS Catalog EBI GWAS CatalogPubMed
Functional variants in ADH1B and ALDH2 coupled with alcohol and smoking synergistically enhance esophageal cancer risk. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of hematological and biochemical traits in a Japanese population. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel associations for hypothyroidism include known autoimmune risk loci. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-14855 (e-PCR)
- UniSTS:21507

RH98922 (e-PCR)
- UniSTS:90221

RH66114 (e-PCR)
- UniSTS:218

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables nuclear localization sequence binding	IDA Inferred from Direct Assay more info	PubMed
enables nucleic acid binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin protein ligase activity	IBA Inferred from Biological aspect of Ancestor more info
enables ubiquitin protein ligase activity	IDA Inferred from Direct Assay more info	PubMed
enables ubiquitin protein ligase activity	TAS Traceable Author Statement more info
enables ubiquitin-protein transferase activity	IDA Inferred from Direct Assay more info	PubMed
enables zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within MAPK cascade	IDA Inferred from Direct Assay more info	PubMed
involved_in MAPK cascade	TAS Traceable Author Statement more info
involved_in Ras protein signal transduction	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within Ras protein signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in protein ubiquitination	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein ubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in protein ubiquitination	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
located_in nuclear membrane	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
part_of ubiquitin ligase complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: BRCA1-associated protein

Names: RING finger protein 52; RING-type E3 ubiquitin transferase BRAP2; galectin-2-binding protein; impedes mitogenic signal propagation; renal carcinoma antigen NY-REN-63

NP_006759.3

EC 2.3.2.27

XP_005254001.1

EC 2.3.2.27

XP_016875481.1

EC 2.3.2.27

XP_047285578.1

EC 2.3.2.27

XP_047285579.1

EC 2.3.2.27

XP_054229339.1

EC 2.3.2.27

XP_054229340.1

EC 2.3.2.27

XP_054229341.1

EC 2.3.2.27

XP_054229342.1

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_006768.5 → NP_006759.3 BRCA1-associated protein

Status: REVIEWED

Source sequence(s)

AB208878, AC137055, BU674276, DB460078

Consensus CDS

CCDS9154.1

UniProtKB/Swiss-Prot

B4DRM1, B9EGS8, O43238, O75341, Q7Z569

UniProtKB/TrEMBL

A8K2W4

Related

ENSP00000403524.3, ENST00000419234.9

Conserved Domains (4) summary

cd00162
Location:263 → 304

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 ...

cd12718
Location:160 → 243

RRM_BRAP2; RNA recognition motif in BRCA1-associated protein (BRAP2)

pfam02148
Location:317 → 379

zf-UBP; Zn-finger in ubiquitin-hydrolases and other protein

cl23887
Location:407 → 558

DUF4349; Domain of unknown function (DUF4349)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000012.12 Reference GRCh38.p14 Primary Assembly

Range

111642146..111685956 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017019992.2 → XP_016875481.1 BRCA1-associated protein isoform X2

UniProtKB/TrEMBL

A8K2W4
XM_005253944.5 → XP_005254001.1 BRCA1-associated protein isoform X1

UniProtKB/TrEMBL

A8K2W4

Related

ENSP00000330813.5, ENST00000327551.6

Conserved Domains (4) summary

cd00162
Location:304 → 345

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 ...

cd12718
Location:201 → 284

RRM_BRAP2; RNA recognition motif in BRCA1-associated protein (BRAP2)

pfam02148
Location:358 → 420

zf-UBP; Zn-finger in ubiquitin-hydrolases and other protein

cl23887
Location:434 → 599

DUF4349; Domain of unknown function (DUF4349)
XM_047429622.1 → XP_047285578.1 BRCA1-associated protein isoform X3
XM_047429623.1 → XP_047285579.1 BRCA1-associated protein isoform X4

Alternate T2T-CHM13v2.0

Genomic

NC_060936.1 Alternate T2T-CHM13v2.0

Range

111619068..111662902 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054373364.1 → XP_054229339.1 BRCA1-associated protein isoform X1

UniProtKB/TrEMBL

A8K2W4
XM_054373365.1 → XP_054229340.1 BRCA1-associated protein isoform X2

UniProtKB/TrEMBL

A8K2W4
XM_054373366.1 → XP_054229341.1 BRCA1-associated protein isoform X3
XM_054373367.1 → XP_054229342.1 BRCA1-associated protein isoform X4