Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10869
Gene name Gene Name - the full gene name approved by the HGNC.
Ubiquitin specific peptidase 19
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
USP19
Synonyms (NCBI Gene) Gene synonyms aliases
ZMYND9
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3p21.31
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
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
miRNA miRNA information provided by mirtarbase database.
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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0004843 Function Thiol-dependent ubiquitin-specific protease activity IDA 19465887
GO:0004843 Function Thiol-dependent ubiquitin-specific protease activity IMP 24356957
GO:0005515 Function Protein binding IPI 21849505, 22128162
GO:0005789 Component Endoplasmic reticulum membrane IDA 19465887
GO:0005829 Component Cytosol IDA 24356957
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
614471 12617 ENSG00000172046
Protein
UniProt ID 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
KGSLLHLTLPK
KVPMLTWPSLLVEADEQLCIPPLNSQTCLLGSEENLAPLAGEKAVPPGN
DPVSPAMVRSRNPGKDDCAKEEMAVAADAATLVDEPESMVNLAFVKNDSYEKGPDSVVVH
VYVKEICRDTSRVLFREQDFTLIFQTRDGNFLRLHPGCGPHTTFRWQVKLRNLIEPEQCT
FCFTASRIDICLRK
RQSQRWGGLEAPAARVGGAKVAVPTGPTPLDSTPPGGAPHPLTGQE
EARAVEKDKSKARSEDTGLDSVATRTPMEHVTPKPETHLASPKPTCMVPPMPHSPVSGDS
VEEEEEEEKKVCLPG
FTGLVNLGNTCFMNSVIQSLSNTRELRDFFHDRSFEAEINYNNPL
GTGGRLAIGFAVLLRALWKGTHHAFQPSKLKAIVASKASQFTGYAQHDAQEFMAFLLDGL
HEDLNRIQNKPYTETVDSDGRPDEVVAEEAWQRHKMRNDSFIVDLFQGQYKSKLVCPVCA
KVSITFDPFLYLPVPLPQKQKVLPVFYFAREPHSKPIKFLVSVSKENSTASEVLDSLSQS
VHVKPENLRLAEVIKNRFHRVFLPSHSLDTVSPSDTLLCFELLSSELAKERVVVLEVQQR
PQVPSVPISK
CAACQRKQQSEDEKLKRCTRCYRVGYCNQLCQKTHWPDHKGLCRPENIGY
PFLVSVPASRLTYARLAQLLEGYARYSVSVFQPPFQPGRMALESQSPGCTTLLSTGSLEA
GDSERDPIQPPELQLVTPMAEGDTGLPRVWAAPDRGPVPSTSGISSEMLASGPIEVGSLP
AGERVSRPEAAVPGYQHPSEAMNAHTPQFFIYKIDSSNREQRLEDKGDTPLELGDDCSLA
LVWRNNERLQEFVLVASKELECAEDPGSAGEAARAGHFTLDQCLNLFTRPEVLAPEEAWY
CPQCKQHREASKQLLLWRLPNVLIVQLKRFSFRSFIWRDKINDLVEFPVRNLDLSKFCIG
QKEEQLPSYDLYAVINHYGGMIGGHYTACARLPNDRSSQRSDVGWRLFDDSTVTTVDESQ
VVTRYAYVLFY
RRRNSPVERPPRAGHSEHHPDLGPAAEAAASQASRIWQELEAEEEPVPE
GSGPLGPWGPQDWVGPLPRGPTTPDEGCLRYFVLGTVAALVALVLNVFYPLVSQSRWR
Sequence length 1318
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Ub-specific processing proteases
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Epileptic encephalopathy Epileptic encephalopathy rs587776508, rs121918334, rs121918317, rs121918321, rs74315390, rs28939684, rs74315391, rs74315392, rs118192244, rs121918622, rs121918623, rs121917953, rs121917955, rs121918624, rs121918625
View all (860 more)
Associations from Text Mining
Disease Name Relationship Type References
Breast Neoplasms Associate 36646950
Carcinogenesis Associate 27517492
Neoplasms Associate 27517492, 30716094