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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	10869
Gene name	Ubiquitin specific peptidase 19
Gene symbol	USP19
Synonyms (NCBI Gene)	ZMYND9
Chromosome	3
Chromosome location	3p21.31
Summary	Protein ubiquitination controls many intracellular processes, including cell cycle progression, transcriptional activation, and signal transduction. This dynamic process, involving ubiquitin conjugating enzymes and deubiquitinating enzymes, adds and remov

Show/Hide all (2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs375659415	C>A,T	Pathogenic	Missense variant, coding sequence variant, synonymous variant, 5 prime UTR variant
rs1057519452	C>A,T	Pathogenic	Missense variant, coding sequence variant

Show/Hide all (90)

miRTarBase ID	miRNA	Experiments	Reference
MIRT048191	hsa-miR-196a-5p	CLASH	23622248
MIRT047096	hsa-miR-183-5p	CLASH	23622248
MIRT045286	hsa-miR-186-5p	CLASH	23622248
MIRT040472	hsa-miR-615-3p	CLASH	23622248
MIRT1477898	hsa-miR-1207-5p	CLIP-seq
MIRT1477899	hsa-miR-3918	CLIP-seq
MIRT1477900	hsa-miR-4453	CLIP-seq
MIRT1477901	hsa-miR-4538	CLIP-seq
MIRT1477902	hsa-miR-4700-3p	CLIP-seq
MIRT1477903	hsa-miR-4763-3p	CLIP-seq
MIRT1477904	hsa-miR-562	CLIP-seq
MIRT1477905	hsa-miR-635	CLIP-seq
MIRT1477906	hsa-miR-3621	CLIP-seq
MIRT1477907	hsa-miR-3656	CLIP-seq
MIRT1477908	hsa-miR-374a	CLIP-seq
MIRT1477909	hsa-miR-374b	CLIP-seq
MIRT1477910	hsa-miR-409-3p	CLIP-seq
MIRT1477911	hsa-miR-4282	CLIP-seq
MIRT1477912	hsa-miR-15a	CLIP-seq
MIRT1477913	hsa-miR-15b	CLIP-seq
MIRT1477914	hsa-miR-16	CLIP-seq
MIRT1477915	hsa-miR-195	CLIP-seq
MIRT1477916	hsa-miR-3135b	CLIP-seq
MIRT1477917	hsa-miR-3612	CLIP-seq
MIRT1477918	hsa-miR-3652	CLIP-seq
MIRT1477919	hsa-miR-424	CLIP-seq
MIRT1477920	hsa-miR-4274	CLIP-seq
MIRT1477921	hsa-miR-4430	CLIP-seq
MIRT1477922	hsa-miR-4434	CLIP-seq
MIRT1477923	hsa-miR-4443	CLIP-seq
MIRT1477924	hsa-miR-4516	CLIP-seq
MIRT1477925	hsa-miR-4531	CLIP-seq
MIRT1477926	hsa-miR-4704-3p	CLIP-seq
MIRT1477927	hsa-miR-4786-3p	CLIP-seq
MIRT1477928	hsa-miR-497	CLIP-seq
MIRT1477929	hsa-miR-615-5p	CLIP-seq
MIRT1477930	hsa-miR-650	CLIP-seq
MIRT1477916	hsa-miR-3135b	CLIP-seq
MIRT1477917	hsa-miR-3612	CLIP-seq
MIRT1477906	hsa-miR-3621	CLIP-seq
MIRT1477918	hsa-miR-3652	CLIP-seq
MIRT1477907	hsa-miR-3656	CLIP-seq
MIRT1477908	hsa-miR-374a	CLIP-seq
MIRT1477909	hsa-miR-374b	CLIP-seq
MIRT2364199	hsa-miR-4324	CLIP-seq
MIRT1477921	hsa-miR-4430	CLIP-seq
MIRT1477922	hsa-miR-4434	CLIP-seq
MIRT1477923	hsa-miR-4443	CLIP-seq
MIRT1477924	hsa-miR-4516	CLIP-seq
MIRT1477925	hsa-miR-4531	CLIP-seq
MIRT2364200	hsa-miR-4762-5p	CLIP-seq
MIRT1477927	hsa-miR-4786-3p	CLIP-seq
MIRT2364201	hsa-miR-493	CLIP-seq
MIRT1477930	hsa-miR-650	CLIP-seq
MIRT2463016	hsa-miR-1303	CLIP-seq
MIRT2463017	hsa-miR-3123	CLIP-seq
MIRT2463018	hsa-miR-326	CLIP-seq
MIRT2463019	hsa-miR-330-5p	CLIP-seq
MIRT2463020	hsa-miR-3909	CLIP-seq
MIRT2463021	hsa-miR-3925-5p	CLIP-seq
MIRT2463022	hsa-miR-4428	CLIP-seq
MIRT1477922	hsa-miR-4434	CLIP-seq
MIRT1477924	hsa-miR-4516	CLIP-seq
MIRT2463016	hsa-miR-1303	CLIP-seq
MIRT2463017	hsa-miR-3123	CLIP-seq
MIRT2463018	hsa-miR-326	CLIP-seq
MIRT2463019	hsa-miR-330-5p	CLIP-seq
MIRT2463020	hsa-miR-3909	CLIP-seq
MIRT2463021	hsa-miR-3925-5p	CLIP-seq
MIRT2463022	hsa-miR-4428	CLIP-seq
MIRT1477922	hsa-miR-4434	CLIP-seq
MIRT1477924	hsa-miR-4516	CLIP-seq
MIRT2463016	hsa-miR-1303	CLIP-seq
MIRT2463017	hsa-miR-3123	CLIP-seq
MIRT2463018	hsa-miR-326	CLIP-seq
MIRT2463019	hsa-miR-330-5p	CLIP-seq
MIRT2463020	hsa-miR-3909	CLIP-seq
MIRT2463021	hsa-miR-3925-5p	CLIP-seq
MIRT2463022	hsa-miR-4428	CLIP-seq
MIRT1477922	hsa-miR-4434	CLIP-seq
MIRT1477924	hsa-miR-4516	CLIP-seq
MIRT2463016	hsa-miR-1303	CLIP-seq
MIRT2463017	hsa-miR-3123	CLIP-seq
MIRT2463018	hsa-miR-326	CLIP-seq
MIRT2463019	hsa-miR-330-5p	CLIP-seq
MIRT2463020	hsa-miR-3909	CLIP-seq
MIRT2463021	hsa-miR-3925-5p	CLIP-seq
MIRT2463022	hsa-miR-4428	CLIP-seq
MIRT1477922	hsa-miR-4434	CLIP-seq
MIRT1477924	hsa-miR-4516	CLIP-seq

Show/Hide all (33)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004843	Function	Cysteine-type deubiquitinase activity	IDA	19465887
GO:0004843	Function	Cysteine-type deubiquitinase activity	IEA
GO:0004843	Function	Cysteine-type deubiquitinase activity	IMP	24356957
GO:0004843	Function	Cysteine-type deubiquitinase activity	TAS
GO:0005515	Function	Protein binding	IPI	19465887, 21849505, 22128162, 36012204
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	19465887
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005829	Component	Cytosol	IDA	24356957
GO:0005829	Component	Cytosol	TAS
GO:0006508	Process	Proteolysis	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008234	Function	Cysteine-type peptidase activity	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0016020	Component	Membrane	IEA
GO:0016579	Process	Protein deubiquitination	IEA
GO:0016579	Process	Protein deubiquitination	IMP	24356957
GO:0016579	Process	Protein deubiquitination	ISS
GO:0016579	Process	Protein deubiquitination	TAS
GO:0016787	Function	Hydrolase activity	IEA
GO:0031647	Process	Regulation of protein stability	IBA
GO:0031647	Process	Regulation of protein stability	IEA
GO:0031647	Process	Regulation of protein stability	ISS
GO:0034976	Process	Response to endoplasmic reticulum stress	IEP	19465887
GO:0036503	Process	ERAD pathway	IBA
GO:0036503	Process	ERAD pathway	IDA	19465887
GO:0046872	Function	Metal ion binding	IEA
GO:0048642	Process	Negative regulation of skeletal muscle tissue development	ISS
GO:0050821	Process	Protein stabilization	IMP	25088257
GO:0051879	Function	Hsp90 protein binding	IDA	24356957
GO:0090068	Process	Positive regulation of cell cycle process	ISS
GO:1900037	Process	Regulation of cellular response to hypoxia	IMP	22128162
GO:1904292	Process	Regulation of ERAD pathway	IMP	25088257

MIM	HGNC	e!Ensembl
614471	12617	ENSG00000172046

O94966

Protein name

Ubiquitin carboxyl-terminal hydrolase 19 (EC 3.4.19.12) (Deubiquitinating enzyme 19) (Ubiquitin thioesterase 19) (Ubiquitin-specific-processing protease 19) (Zinc finger MYND domain-containing protein 9)

Protein function

Deubiquitinating enzyme that regulates the degradation of various proteins by removing ubiquitin moieties, thereby preventing their proteasomal degradation. Stabilizes RNF123, which promotes CDKN1B degradation and contributes to cell proliferati

PDB

1WH0 , 4X3G , 6K7W , 6KHV , 6KQV

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04969	CS	117 → 191	CS domain	Domain
PF04969	CS	285 → 374	CS domain	Domain
PF16602	USP19_linker	375 → 495		Disordered
PF00443	UCH	497 → 1211	Ubiquitin carboxyl-terminal hydrolase	Family
PF01753	zf-MYND	791 → 833	MYND finger	Domain

Sequence

MSGGASATGPRRGPPGLEDTTSKKKQKDRANQESKDGDPRKETGSRYVAQAGLEPLASGD
PSASASHAAGITGSRHRTRLFFPSSSGSASTPQEEQTKEGACEDPHDLLATPTPELLLDW
RQSAEEVIVKLRVGVGPLQLEDVDAAFTDTDCVVRFAGGQQWGGVFYAEIKSSCAKVQTR
KGSLLHLTLPKKVPMLTWPSLLVEADEQLCIPPLNSQTCLLGSEENLAPLAGEKAVPPGN
DPVSPAMVRSRNPGKDDCAKEEMAVAADAATLVDEPESMVNLAFVKNDSYEKGPDSVVVH
VYVKEICRDTSRVLFREQDFTLIFQTRDGNFLRLHPGCGPHTTFRWQVKLRNLIEPEQCT
FCFTASRIDICLRKRQSQRWGGLEAPAARVGGAKVAVPTGPTPLDSTPPGGAPHPLTGQE
EARAVEKDKSKARSEDTGLDSVATRTPMEHVTPKPETHLASPKPTCMVPPMPHSPVSGDS
VEEEEEEEKKVCLPGFTGLVNLGNTCFMNSVIQSLSNTRELRDFFHDRSFEAEINYNNPL
GTGGRLAIGFAVLLRALWKGTHHAFQPSKLKAIVASKASQFTGYAQHDAQEFMAFLLDGL
HEDLNRIQNKPYTETVDSDGRPDEVVAEEAWQRHKMRNDSFIVDLFQGQYKSKLVCPVCA
KVSITFDPFLYLPVPLPQKQKVLPVFYFAREPHSKPIKFLVSVSKENSTASEVLDSLSQS
VHVKPENLRLAEVIKNRFHRVFLPSHSLDTVSPSDTLLCFELLSSELAKERVVVLEVQQR
PQVPSVPISKCAACQRKQQSEDEKLKRCTRCYRVGYCNQLCQKTHWPDHKGLCRPENIGY
PFLVSVPASRLTYARLAQLLEGYARYSVSVFQPPFQPGRMALESQSPGCTTLLSTGSLEA
GDSERDPIQPPELQLVTPMAEGDTGLPRVWAAPDRGPVPSTSGISSEMLASGPIEVGSLP
AGERVSRPEAAVPGYQHPSEAMNAHTPQFFIYKIDSSNREQRLEDKGDTPLELGDDCSLA
LVWRNNERLQEFVLVASKELECAEDPGSAGEAARAGHFTLDQCLNLFTRPEVLAPEEAWY
CPQCKQHREASKQLLLWRLPNVLIVQLKRFSFRSFIWRDKINDLVEFPVRNLDLSKFCIG
QKEEQLPSYDLYAVINHYGGMIGGHYTACARLPNDRSSQRSDVGWRLFDDSTVTTVDESQ
VVTRYAYVLFYRRRNSPVERPPRAGHSEHHPDLGPAAEAAASQASRIWQELEAEEEPVPE
GSGPLGPWGPQDWVGPLPRGPTTPDEGCLRYFVLGTVAALVALVLNVFYPLVSQSRWR

Sequence length

1318

Interactions

View interactions

	Reactome
			Ub-specific processing proteases

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Epileptic encephalopathy	Pathogenic	rs1057519452, rs375659415	RCV000416476 RCV000416439

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Long QT syndrome	Likely benign	rs796052187	RCV000190198

Show/Hide Text Mining Associations (3)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Breast Neoplasms	Associate	36646950
Carcinogenesis	Associate	27517492
Neoplasms	Associate	27517492, 30716094

USP19 (ubiquitin specific peptidase 19)