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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]
BRAP (BRCA1 Associated Protein) is a Protein Coding gene. Diseases associated with BRAP include Astereognosia and Melanoma, Uveal. Among its related pathways are Negative regulation of MAPK pathway and RET signaling. Gene Ontology (GO) annotations related to this gene include nucleotide binding and ubiquitin-protein transferase activity.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003676 | nucleic acid binding | IEA | -- |
GO:0004842 | ubiquitin-protein transferase activity | IDA | 14724641 |
GO:0005515 | protein binding | IPI | 9497340 |
GO:0008139 | nuclear localization sequence binding | IDA | 9497340 |
GO:0008270 | zinc ion binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000151 | ubiquitin ligase complex | IDA | 14724641 |
GO:0005737 | cytoplasm | IEA,IDA | 9497340 |
GO:0005829 | cytosol | IDA,TAS | -- |
GO:0031965 | nuclear membrane | IDA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | RET signaling |
.92
|
.92
|
2 | Paradoxical activation of RAF signaling by kinase inactive BRAF | ||
3 | Developmental Biology |
.51
|
|
4 | Cytokine Signaling in Immune system | ||
5 | HIV Life Cycle |
.45
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000165 | MAPK cascade | IDA,TAS | -- |
GO:0007265 | Ras protein signal transduction | IDA | 14724641 |
GO:0009968 | negative regulation of signal transduction | IDA | 14724641 |
GO:0016567 | protein ubiquitination | IDA,IEA | -- |
ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||||||||||
SP2: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | BRAP 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | BRAP 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | BRAP 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | BRAP 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Mouse (Mus musculus) |
Mammalia | Brap 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Brap 30 |
|
||
Chicken (Gallus gallus) |
Aves | BRAP 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | BRAP 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | brap 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | MGC68778 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | brap 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | CG5555 30 31 32 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP002128 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | EEED8.16 30 31 32 |
|
OneToOne | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | ETP1 30 31 33 |
|
OneToOne | |
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AGL079C 30 |
|
||
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0F25740g 30 |
|
||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | BRIZ2 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os02g0182900 30 |
|
||
Bread mold (Neurospora crassa) |
Ascomycetes | NCU11215 30 |
|
||
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | SPAC16E8.13 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.4818 31 |
|
OneToOne | |
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.10973 30 |
|
SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
715522 | Benign: not provided | 111,659,295(-) | G/A | SYNONYMOUS_VARIANT | |
768584 | Benign: not provided | 111,650,001(-) | C/T | SYNONYMOUS_VARIANT | |
768585 | Benign: not provided | 111,665,785(-) | G/A | SYNONYMOUS_VARIANT | |
768586 | Benign: not provided | 111,679,205(-) | A/G | SYNONYMOUS_VARIANT | |
778660 | Benign: not provided | 111,683,264(-) | G/A | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3630761 | CNV | loss | 21293372 |
esv3630762 | CNV | gain | 21293372 |
esv3630763 | CNV | gain | 21293372 |
nsv973119 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
astereognosia |
|
|
melanoma, uveal |
|
|