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Gene Gene information from NCBI Gene database.
Entrez ID 158880
Gene name Ubiquitin specific peptidase 51
Gene symbol USP51
Synonyms (NCBI Gene)
-
Chromosome X
Chromosome location Xp11.21
miRNA miRNA information provided by mirtarbase database.
115 Show/Hide all (115)
miRTarBase ID miRNA Experiments Reference
MIRT503520 hsa-miR-1277-5p HITS-CLIP 21572407
MIRT503519 hsa-miR-329-3p HITS-CLIP 21572407
MIRT503518 hsa-miR-362-3p HITS-CLIP 21572407
MIRT503517 hsa-miR-4798-3p HITS-CLIP 21572407
MIRT503516 hsa-miR-3680-5p HITS-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23 Show/Hide all (23)
GO ID Ontology Definition Evidence Reference
GO:0003682 Function Chromatin binding IDA 27083998
GO:0004843 Function Cysteine-type deubiquitinase activity IDA 14715245, 34188037
GO:0004843 Function Cysteine-type deubiquitinase activity IEA
GO:0005634 Component Nucleus IC 34188037
GO:0005694 Component Chromosome IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q70EK9
Protein name Ubiquitin carboxyl-terminal hydrolase 51 (EC 3.4.19.12) (Deubiquitinating enzyme 51) (Ubiquitin thioesterase 51) (Ubiquitin-specific-processing protease 51)
Protein function Specifically deubiquitinates 'Lys-14' (H2AK13Ub) and 'Lys-16'(H2AK15Ub) of histone H2A regulating the DNA damage response at double-strand breaks (DSBs) (PubMed:27083998, PubMed:33022275). USP51 is recruited to chromatin after DNA damage and reg
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00443 UCH 363 → 703 Ubiquitin carboxyl-terminal hydrolase Family
PF02148 zf-UBP 236 → 297 Zn-finger in ubiquitin-hydrolases and other protein Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in prostate, brain, lung, aorta and kidney. {ECO:0000269|PubMed:14715245}.
Sequence
MAQVRETSLPSGSGVRWISGGGGGASPEEAVEKAGKMEEAAAGATKASSRREAEEMKLEP
LQEREPAPEENLTWSSSGGDEKVLPSIPLRCHSSSSPVCPRRKPRPRPQPRARSRSQPGL
SAPPPPPARPPPPPPPPPPPAPRPRAWRGSRRRSRPGSRPQTRRSCSGDLDGSGDPGGLG
DWLLEVEFGQGPTGCSHVESFKVGKNWQKNLRLIYQRFVWSGTPETRKRKAKSCICHVCS
THMNRLHSCLSCVFFGCFTEKHIHKHAETKQHHLAVDLYHGVIYCFMCKDYVYDKDI
EQI
AKETKEKILRLLTSTSTDVSHQQFMTSGFEDKQSTCETKEQEPKLVKPKKKRRKKSVYTV
GLRGLINLGNTCFMNCIVQALTHIPLLKDFFLSDKHKCIMTSPSLCLVCEMSSLFHAMYS
GSRTPHIPYKLLHLIWIHAEHLAGYRQQDAHEFLIAILDVLHRHSKDDSGGQEANNPNCC
NCIIDQIFTGGLQSDVTCQACHSVSTTIDPCWDISLDLPGSCATFDSQNPERADSTVSRD
DHIPGIPSLTDCLQWFTRPEHLGSSAKIKCNSCQSYQESTKQLTMKKLPIVACFHLKRFE
HVGKQRRKINTFISFPLELDMTPFLASTKESRMKEGQPPTDCVPNENKYSLFAVINHHGT
LESGHYTSFIRQQKDQWFSCDDAIITKATIEDLLYSEGYLLFY
HKQGLEKD
Sequence length 711
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Short stature Pathogenic rs1569197778 RCV000736242
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Reference Evidence Score
ANDROGENETIC ALOPECIA — GWAS catalog 30573740
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (10)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Breast Carcinoma Breast Carcinoma BEFREE 29119051
★★★★★
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 37816999 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Endometrial Carcinoma Endometrial carcinoma BEFREE 31217854
★★★★★
★☆☆☆☆
Found in Text Mining only
Hypoxia Hypoxia Pubtator 37816999 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Lung Neoplasms Lung neoplasms Pubtator 32468048 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of breast Breast Cancer BEFREE 29119051
★★★★★
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of endometrium Endometrial Cancer BEFREE 31217854
★★★★★
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 27132940
★★★★★
★☆☆☆☆
Found in Text Mining only
Ovarian Neoplasms Ovarian neoplasm Pubtator 26261572 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Stomach Neoplasms Stomach neoplasms Pubtator 36603607 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only