Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	158880
Gene name	Ubiquitin specific peptidase 51
Gene symbol	USP51
Synonyms (NCBI Gene)	-
Chromosome	X
Chromosome location	Xp11.21

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
MIRT503515	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT503514	hsa-miR-342-3p	HITS-CLIP	21572407
MIRT503513	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT503512	hsa-miR-377-3p	HITS-CLIP	21572407
MIRT503520	hsa-miR-1277-5p	HITS-CLIP	23313552
MIRT503517	hsa-miR-4798-3p	HITS-CLIP	23313552
MIRT503516	hsa-miR-3680-5p	HITS-CLIP	23313552
MIRT503515	hsa-miR-5011-5p	HITS-CLIP	23313552
MIRT503514	hsa-miR-342-3p	HITS-CLIP	23313552
MIRT503513	hsa-miR-190a-3p	HITS-CLIP	23313552
MIRT503512	hsa-miR-377-3p	HITS-CLIP	23313552
MIRT503520	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT503519	hsa-miR-329-3p	PAR-CLIP	21572407
MIRT503518	hsa-miR-362-3p	PAR-CLIP	21572407
MIRT503517	hsa-miR-4798-3p	PAR-CLIP	21572407
MIRT503516	hsa-miR-3680-5p	PAR-CLIP	21572407
MIRT503515	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT503514	hsa-miR-342-3p	PAR-CLIP	21572407
MIRT503513	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT503512	hsa-miR-377-3p	PAR-CLIP	21572407
MIRT526349	hsa-miR-4668-3p	PAR-CLIP	22012620
MIRT526348	hsa-miR-338-5p	PAR-CLIP	22012620
MIRT526347	hsa-miR-3163	PAR-CLIP	22012620
MIRT526346	hsa-miR-95-5p	PAR-CLIP	22012620
MIRT526345	hsa-miR-4705	PAR-CLIP	22012620
MIRT526344	hsa-miR-4719	PAR-CLIP	22012620
MIRT526343	hsa-miR-187-5p	PAR-CLIP	22012620
MIRT503520	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT503519	hsa-miR-329-3p	PAR-CLIP	23446348
MIRT503518	hsa-miR-362-3p	PAR-CLIP	23446348
MIRT503517	hsa-miR-4798-3p	PAR-CLIP	23446348
MIRT503516	hsa-miR-3680-5p	PAR-CLIP	23446348
MIRT503515	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT503514	hsa-miR-342-3p	PAR-CLIP	23446348
MIRT503513	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT503512	hsa-miR-377-3p	PAR-CLIP	23446348
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
MIRT503515	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT503514	hsa-miR-342-3p	HITS-CLIP	21572407
MIRT503513	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT503512	hsa-miR-377-3p	HITS-CLIP	21572407
MIRT503520	hsa-miR-1277-5p	HITS-CLIP	23313552
MIRT503517	hsa-miR-4798-3p	HITS-CLIP	23313552
MIRT503516	hsa-miR-3680-5p	HITS-CLIP	23313552
MIRT503515	hsa-miR-5011-5p	HITS-CLIP	23313552
MIRT503514	hsa-miR-342-3p	HITS-CLIP	23313552
MIRT503513	hsa-miR-190a-3p	HITS-CLIP	23313552
MIRT503512	hsa-miR-377-3p	HITS-CLIP	23313552
MIRT503520	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT503519	hsa-miR-329-3p	PAR-CLIP	21572407
MIRT503518	hsa-miR-362-3p	PAR-CLIP	21572407
MIRT503517	hsa-miR-4798-3p	PAR-CLIP	21572407
MIRT503516	hsa-miR-3680-5p	PAR-CLIP	21572407
MIRT503515	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT503514	hsa-miR-342-3p	PAR-CLIP	21572407
MIRT503513	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT503512	hsa-miR-377-3p	PAR-CLIP	21572407
MIRT526349	hsa-miR-4668-3p	PAR-CLIP	22012620
MIRT526348	hsa-miR-338-5p	PAR-CLIP	22012620
MIRT526347	hsa-miR-3163	PAR-CLIP	22012620
MIRT526346	hsa-miR-95-5p	PAR-CLIP	22012620
MIRT526345	hsa-miR-4705	PAR-CLIP	22012620
MIRT526344	hsa-miR-4719	PAR-CLIP	22012620
MIRT526343	hsa-miR-187-5p	PAR-CLIP	22012620
MIRT503520	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT503519	hsa-miR-329-3p	PAR-CLIP	23446348
MIRT503518	hsa-miR-362-3p	PAR-CLIP	23446348
MIRT503517	hsa-miR-4798-3p	PAR-CLIP	23446348
MIRT503516	hsa-miR-3680-5p	PAR-CLIP	23446348
MIRT503515	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT503514	hsa-miR-342-3p	PAR-CLIP	23446348
MIRT503513	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT503512	hsa-miR-377-3p	PAR-CLIP	23446348
MIRT1480245	hsa-miR-1193	CLIP-seq
MIRT1480246	hsa-miR-1225-3p	CLIP-seq
MIRT1480247	hsa-miR-27a	CLIP-seq
MIRT1480248	hsa-miR-27b	CLIP-seq
MIRT1480249	hsa-miR-335	CLIP-seq
MIRT1480250	hsa-miR-3942-3p	CLIP-seq
MIRT1480251	hsa-miR-4662a-3p	CLIP-seq
MIRT1480252	hsa-miR-4679	CLIP-seq
MIRT1480253	hsa-miR-4684-5p	CLIP-seq
MIRT1480254	hsa-miR-4790-3p	CLIP-seq
MIRT1480255	hsa-miR-513a-5p	CLIP-seq
MIRT1480256	hsa-miR-513b	CLIP-seq
MIRT1480257	hsa-miR-942	CLIP-seq
MIRT2144503	hsa-miR-4729	CLIP-seq
MIRT2364790	hsa-miR-1179	CLIP-seq
MIRT2364791	hsa-miR-202	CLIP-seq
MIRT2364792	hsa-miR-3973	CLIP-seq
MIRT2364793	hsa-miR-4271	CLIP-seq
MIRT2364794	hsa-miR-4279	CLIP-seq
MIRT2364795	hsa-miR-4283	CLIP-seq
MIRT2364796	hsa-miR-431	CLIP-seq
MIRT2364797	hsa-miR-4443	CLIP-seq
MIRT2364798	hsa-miR-4489	CLIP-seq
MIRT2364799	hsa-miR-4528	CLIP-seq
MIRT2364800	hsa-miR-4635	CLIP-seq
MIRT2364801	hsa-miR-4716-3p	CLIP-seq
MIRT2364802	hsa-miR-4725-3p	CLIP-seq
MIRT1480254	hsa-miR-4790-3p	CLIP-seq
MIRT2364803	hsa-miR-511	CLIP-seq
MIRT2364804	hsa-miR-548k	CLIP-seq
MIRT2364805	hsa-miR-548m	CLIP-seq
MIRT2364806	hsa-miR-579	CLIP-seq
MIRT2364807	hsa-miR-625	CLIP-seq

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
GO:0006281	Process	DNA repair	IEA
GO:0006508	Process	Proteolysis	IEA
GO:0006974	Process	DNA damage response	IDA	19500350, 34188037
GO:0006974	Process	DNA damage response	IDA	27083998, 34188037
GO:0006974	Process	DNA damage response	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008234	Function	Cysteine-type peptidase activity	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0010564	Process	Regulation of cell cycle process	IMP	27083998
GO:0010569	Process	Regulation of double-strand break repair via homologous recombination	IMP	27083998
GO:0016579	Process	Protein deubiquitination	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0042393	Function	Histone binding	IDA	27083998
GO:0046872	Function	Metal ion binding	IEA
GO:0140861	Process	DNA repair-dependent chromatin remodeling	IMP	27083998
GO:0140950	Function	Histone H2A deubiquitinase activity	IDA	27083998
GO:0140950	Function	Histone H2A deubiquitinase activity	IEA
GO:2001032	Process	Regulation of double-strand break repair via nonhomologous end joining	IMP	27083998

MIM	HGNC	e!Ensembl
HGNC	N/A	HGNC

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
PF02148	zf-UBP	236 → 297	Zn-finger in ubiquitin-hydrolases and other protein	Domain
PF00443	UCH	363 → 703	Ubiquitin carboxyl-terminal hydrolase	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in prostate, brain, lung, aorta and kidney. {ECO:0000269|PubMed:14715245}.

Sequence

MAQVRETSLPSGSGVRWISGGGGGASPEEAVEKAGKMEEAAAGATKASSRREAEEMKLEP
LQEREPAPEENLTWSSSGGDEKVLPSIPLRCHSSSSPVCPRRKPRPRPQPRARSRSQPGL
SAPPPPPARPPPPPPPPPPPAPRPRAWRGSRRRSRPGSRPQTRRSCSGDLDGSGDPGGLG
DWLLEVEFGQGPTGCSHVESFKVGKNWQKNLRLIYQRFVWSGTPETRKRKAKSCICHVCS
THMNRLHSCLSCVFFGCFTEKHIHKHAETKQHHLAVDLYHGVIYCFMCKDYVYDKDIEQI
AKETKEKILRLLTSTSTDVSHQQFMTSGFEDKQSTCETKEQEPKLVKPKKKRRKKSVYTV
GLRGLINLGNTCFMNCIVQALTHIPLLKDFFLSDKHKCIMTSPSLCLVCEMSSLFHAMYS
GSRTPHIPYKLLHLIWIHAEHLAGYRQQDAHEFLIAILDVLHRHSKDDSGGQEANNPNCC
NCIIDQIFTGGLQSDVTCQACHSVSTTIDPCWDISLDLPGSCATFDSQNPERADSTVSRD
DHIPGIPSLTDCLQWFTRPEHLGSSAKIKCNSCQSYQESTKQLTMKKLPIVACFHLKRFE
HVGKQRRKINTFISFPLELDMTPFLASTKESRMKEGQPPTDCVPNENKYSLFAVINHHGT
LESGHYTSFIRQQKDQWFSCDDAIITKATIEDLLYSEGYLLFYHKQGLEKD

Sequence length

711

Interactions

View interactions

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)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Short stature	Pathogenic	rs1569197778	RCV000736242	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (10)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
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

USP51 (ubiquitin specific peptidase 51)