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中文人类
BAP1 - BRCA1 Associated Protein 1
Alias:
UBM2
UVM2
KURIS
TPDS1
UCHL2
hucep-6
HUCEP-13
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这个基因属于脱泛素化酶的泛素C端水解酶亚家族，参与从蛋白质中去除泛素。编码的酶通过后者的指环手指结构域与乳腺癌1型易感蛋白(BRCA1)结合，并起到肿瘤抑制因子作用。此外，该酶可能参与转录调节、细胞周期和生长的调节、对DNA损伤的反应以及染色质动力学。这个基因的种系突变可能与肿瘤易感综合症(TPDS)有关，涉及恶性肿瘤、恶性间皮瘤、葡萄膜黑色素瘤和皮肤黑色素瘤等癌症的风险增加。[RefSeq提供，2013年5月]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
BAP1 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
Table View
Tile View
#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Link
References Literature
Title
PMID
Journal
Year
IF
