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 removes ubiquitin. Deubiquitinating enzymes are cysteine proteases that specifically cleave ubiquitin from ubiquitin-conjugated pr... See more...

Aliases for USP19 Gene

Aliases for USP19 Gene

  • Ubiquitin Specific Peptidase 19 2 3 5
  • ZMYND9 2 3 4
  • Zinc Finger MYND Domain-Containing Protein 9 3 4
  • Ubiquitin-Specific-Processing Protease 19 3 4
  • Ubiquitin Carboxyl-Terminal Hydrolase 19 3 4
  • Ubiquitin Specific Protease 19 2 3
  • Deubiquitinating Enzyme 19 3 4
  • Ubiquitin Thioesterase 19 3 4
  • KIAA0891 2 4
  • Ubiquitin Thiolesterase 19 3
  • EC 3.4.19.12 4
  • EC 3.1.2.15 50
  • USP19 5

External Ids for USP19 Gene

Previous GeneCards Identifiers for USP19 Gene

  • GC03P046927
  • GC03P048487
  • GC03M048999
  • GC03M049104
  • GC03M049120
  • GC03M049145
  • GC03M049109
  • GC03M049148
  • GC03M049153
  • GC03M049166
  • GC03M049205
  • GC03M049110
  • GC03M049116
  • GC03M049125
  • GC03M049134
  • GC03M049254
  • GC03M049293

Summaries for USP19 Gene

Entrez Gene Summary for USP19 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 removes ubiquitin. Deubiquitinating enzymes are cysteine proteases that specifically cleave ubiquitin from ubiquitin-conjugated protein substrates. This protein is a ubiquitin protein ligase and plays a role in muscle wasting. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2017]

GeneCards Summary for USP19 Gene

USP19 (Ubiquitin Specific Peptidase 19) is a Protein Coding gene. Diseases associated with USP19 include Pitt-Hopkins-Like Syndrome 2. Among its related pathways are Deubiquitination and Ubiquitin-Proteasome Dependent Proteolysis. Gene Ontology (GO) annotations related to this gene include cysteine-type endopeptidase activity and thiol-dependent ubiquitin-specific protease activity. An important paralog of this gene is USP31.

UniProtKB/Swiss-Prot Summary for USP19 Gene

  • Deubiquitinating enzyme that regulates the degradation of various proteins. Deubiquitinates and prevents proteasomal degradation of RNF123 which in turn stimulates CDKN1B ubiquitin-dependent degradation thereby playing a role in cell proliferation. Involved in decreased protein synthesis in atrophying skeletal muscle. Modulates transcription of major myofibrillar proteins. Also involved in turnover of endoplasmic-reticulum-associated degradation (ERAD) substrates. Regulates the stability of BIRC2/c-IAP1 and BIRC3/c-IAP2 by preventing their ubiquitination. Required for cells to mount an appropriate response to hypoxia and rescues HIF1A from degradation in a non-catalytic manner. Plays an important role in 17 beta-estradiol (E2)-inhibited myogenesis. Decreases the levels of ubiquitinated proteins during skeletal muscle formation and acts to repress myogenesis. Exhibits a preference towards 'Lys-63'-linked ubiquitin chains.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for USP19 Gene

Genomics for USP19 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for USP19 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around USP19 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for USP19

Top Transcription factor binding sites by QIAGEN in the USP19 gene promoter:
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • Max

Genomic Locations for USP19 Gene

Latest Assembly
chr3:49,108,046-49,120,938
(GRCh38/hg38)
Size:
12,893 bases
Orientation:
Minus strand

Previous Assembly
chr3:49,145,483-49,158,256
(GRCh37/hg19 by Entrez Gene)
Size:
12,774 bases
Orientation:
Minus strand

chr3:49,145,479-49,158,371
(GRCh37/hg19 by Ensembl)
Size:
12,893 bases
Orientation:
Minus strand

Genomic View for USP19 Gene

Genes around USP19 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
USP19 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for USP19 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for USP19 Gene

Proteins for USP19 Gene

  • Protein details for USP19 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O94966-UBP19_HUMAN
    Recommended name:
    Ubiquitin carboxyl-terminal hydrolase 19
    Protein Accession:
    O94966
    Secondary Accessions:
    • A5PKX8
    • A6H8U2
    • B4DGT3
    • B4DTZ0
    • E7EN22
    • E7ETS0
    • E9PEG8
    • Q3KQW4
    • Q641Q9
    • Q6NZY8
    • Q86XV9

    Protein attributes for USP19 Gene

    Size:
    1318 amino acids
    Molecular mass:
    145651 Da
    Quaternary structure:
    • Interacts with RNF123 (By similarity). Interacts with BIRC2/c-IAP1, BIRC3/c-IAP2 and XIAP/BIRC4. Interacts with HIF1A (via N-terminus).
    SequenceCaution:
    • Sequence=AAI06030.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=AAI06030.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=AAI42661.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=BAA74914.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for USP19 Gene

    Alternative splice isoforms for USP19 Gene

neXtProt entry for USP19 Gene

Selected DME Specific Peptides for USP19 Gene

O94966:
  • LSNTRELRD
  • FLLDGLH
  • INYNNPLG
  • IVDLFQG
  • DGLHEDLN
  • LFYRRRN
  • NSVIQSL
  • TRELRDFF
  • GLVNLGN
  • NLGNTCF
  • GNTCFMN

Post-translational modifications for USP19 Gene

  • Ubiquitination at Lys610 and Lys1120
  • Modification sites at PhosphoSitePlus

Domains & Families for USP19 Gene

Gene Families for USP19 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for USP19 Gene

InterPro:
Blocks:
  • Zn-finger, MYND type
  • Ubiquitin thiolesterase, family 2

Suggested Antigen Peptide Sequences for USP19 Gene

GenScript: Design optimal peptide antigens:
  • Ubiquitin carboxyl-terminal hydrolase (A5PKX8_HUMAN)
  • Ubiquitin carboxyl-terminal hydrolase (A5PL36_HUMAN)
  • Ubiquitin carboxyl-terminal hydrolase (B5MEG5_HUMAN)
  • Ubiquitin carboxyl-terminal hydrolase (E7EN22_HUMAN)
  • Ubiquitin carboxyl-terminal hydrolase (E7EST9_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O94966

UniProtKB/Swiss-Prot:

UBP19_HUMAN :
  • Belongs to the peptidase C19 family.
Family:
  • Belongs to the peptidase C19 family.
genes like me logo Genes that share domains with USP19: view

Function for USP19 Gene

Molecular function for USP19 Gene

UniProtKB/Swiss-Prot Function:
Deubiquitinating enzyme that regulates the degradation of various proteins. Deubiquitinates and prevents proteasomal degradation of RNF123 which in turn stimulates CDKN1B ubiquitin-dependent degradation thereby playing a role in cell proliferation. Involved in decreased protein synthesis in atrophying skeletal muscle. Modulates transcription of major myofibrillar proteins. Also involved in turnover of endoplasmic-reticulum-associated degradation (ERAD) substrates. Regulates the stability of BIRC2/c-IAP1 and BIRC3/c-IAP2 by preventing their ubiquitination. Required for cells to mount an appropriate response to hypoxia and rescues HIF1A from degradation in a non-catalytic manner. Plays an important role in 17 beta-estradiol (E2)-inhibited myogenesis. Decreases the levels of ubiquitinated proteins during skeletal muscle formation and acts to repress myogenesis. Exhibits a preference towards 'Lys-63'-linked ubiquitin chains.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Thiol-dependent hydrolysis of ester, thioester, amide, peptide and isopeptide bonds formed by the C-terminal Gly of ubiquitin (a 76-residue protein attached to proteins as an intracellular targeting signal).; EC=3.4.19.12;.
GENATLAS Biochemistry:
putative ubiquitin specific protease 19,deubiquitin enzyme family

Enzyme Numbers (IUBMB) for USP19 Gene

Phenotypes From GWAS Catalog for USP19 Gene

Gene Ontology (GO) - Molecular Function for USP19 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004843 thiol-dependent ubiquitin-specific protease activity IMP 24356957
GO:0005515 protein binding IPI 21849505
GO:0008233 peptidase activity IEA --
GO:0008234 cysteine-type peptidase activity IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with USP19: view
genes like me logo Genes that share phenotypes with USP19: view

Animal Models for USP19 Gene

MGI Knock Outs for USP19:
  • Usp19 Usp19<tm1b(EUCOMM)Hmgu>

Animal Models for research

  • Taconic Biosciences Mouse Models for USP19

miRNA for USP19 Gene

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for USP19

Clone products for research

  • Addgene plasmids for USP19

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for USP19 Gene

Localization for USP19 Gene

Subcellular locations from UniProtKB/Swiss-Prot for USP19 Gene

Endoplasmic reticulum membrane. Single-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for USP19 gene
Compartment Confidence
cytosol 4
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
endosome 2
lysosome 2
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for USP19 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IEA,IDA 19465887
GO:0005829 cytosol IEA,TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with USP19: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for USP19 Gene

Pathways & Interactions for USP19 Gene

PathCards logo

SuperPathways for USP19 Gene

genes like me logo Genes that share pathways with USP19: view

Pathways by source for USP19 Gene

1 Qiagen pathway for USP19 Gene
  • Ubiquitin-Proteasome Dependent Proteolysis

Gene Ontology (GO) - Biological Process for USP19 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0006511 ubiquitin-dependent protein catabolic process IEA --
GO:0016579 protein deubiquitination IMP,TAS --
GO:0018215 protein phosphopantetheinylation IEA --
GO:0030433 ubiquitin-dependent ERAD pathway IDA 19465887
genes like me logo Genes that share ontologies with USP19: view

No data available for SIGNOR curated interactions for USP19 Gene

Drugs & Compounds for USP19 Gene

No Compound Related Data Available

Transcripts for USP19 Gene

mRNA/cDNA for USP19 Gene

30 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for USP19

Clone products for research

  • Addgene plasmids for USP19

Alternative Splicing Database (ASD) splice patterns (SP) for USP19 Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b · 6c · 6d ^ 7 ^ 8 ^ 9 ^ 10a · 10b · 10c · 10d ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14a ·
SP1:
SP2:
SP3:
SP4:
SP5: -
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12: - - - - -
SP13:
SP14: -
SP15:

ExUns: 14b · 14c ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19a · 19b ^ 20 ^ 21 ^ 22 ^ 23a · 23b ^ 24a · 24b ^ 25a · 25b ^ 26a · 26b ^ 27 ^ 28 ^ 29
SP1:
SP2:
SP3:
SP4: -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:

Relevant External Links for USP19 Gene

GeneLoc Exon Structure for
USP19

Expression for USP19 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for USP19 Gene

Protein differential expression in normal tissues from HIPED for USP19 Gene

This gene is overexpressed in Fetal Liver (23.3) and Adrenal (13.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for USP19 Gene



Protein tissue co-expression partners for USP19 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for USP19

SOURCE GeneReport for Unigene cluster for USP19 Gene:

Hs.255596

Evidence on tissue expression from TISSUES for USP19 Gene

  • Nervous system(4.7)
  • Skin(4.4)
  • Muscle(2.9)
  • Kidney(2.1)
genes like me logo Genes that share expression patterns with USP19: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for USP19 Gene

Orthologs for USP19 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for USP19 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia USP19 29 30
  • 99.41 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia USP19 29 30
  • 91.07 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia USP19 29 30
  • 89.72 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Usp19 29 16 30
  • 88.03 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Usp19 29
  • 87.74 (n)
Oppossum
(Monodelphis domestica)
Mammalia USP19 30
  • 73 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia USP19 30
  • 68 (a)
OneToOne
Chicken
(Gallus gallus)
Aves USP19 29 30
  • 70.93 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia USP19 30
  • 65 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia usp19 29
  • 67.76 (n)
Zebrafish
(Danio rerio)
Actinopterygii usp19 29 30
  • 65.44 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG30421 31
  • 35 (a)
Worm
(Caenorhabditis elegans)
Secernentea H34C03.2 31
  • 51 (a)
F07A11.4 29 30 31
  • 47.33 (n)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes UBP12 30
  • 21 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 35 (a)
OneToOne
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.7794 29
Species where no ortholog for USP19 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for USP19 Gene

ENSEMBL:
Gene Tree for USP19 (if available)
TreeFam:
Gene Tree for USP19 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for USP19: view image
Alliance of Genome Resources:
Additional Orthologs for USP19

Paralogs for USP19 Gene

(5) SIMAP similar genes for USP19 Gene using alignment to 7 proteins:

  • UBP19_HUMAN
  • A5PL36_HUMAN
  • B5MEG5_HUMAN
  • C9J8M4_HUMAN
  • E7EST9_HUMAN
  • E7ESU0_HUMAN
  • H0YB23_HUMAN
genes like me logo Genes that share paralogs with USP19: view

Variants for USP19 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for USP19 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
rs1057519452 Pathogenic: Epileptic encephalopathy 49,115,756(-) C/A
NM_001199162.1(USP19):c.1624G>T (p.Val542Leu)
MISSENSE
rs114570156 Benign: not provided 49,114,756(-) A/G
NM_001199160.1(USP19):c.2286+7T>C
INTRON
rs144914640 Benign: not provided 49,116,057(-) C/T
NM_001199160.1(USP19):c.1461G>A (p.Pro487=)
SYNONYMOUS
rs187920499 Likely Benign: not provided 49,112,616(-) C/T
NM_001199160.1(USP19):c.2513G>A (p.Arg838His)
MISSENSE
rs201580030 Likely Benign: not provided 49,116,324(-) C/T
NM_001199160.1(USP19):c.1311G>A (p.Pro437=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for USP19 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for USP19 Gene

Variant ID Type Subtype PubMed ID
nsv834686 CNV loss 17160897

Variation tolerance for USP19 Gene

Residual Variation Intolerance Score: 7.99% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.17; 69.61% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for USP19 Gene

Human Gene Mutation Database (HGMD)
USP19
SNPedia medical, phenotypic, and genealogical associations of SNPs for
USP19
Leiden Open Variation Database (LOVD)
USP19

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for USP19 Gene

Disorders for USP19 Gene

MalaCards: The human disease database

(1) MalaCards diseases for USP19 Gene - From: COP

Disorder Aliases PubMed IDs
pitt-hopkins-like syndrome 2
  • pthsl2
- elite association - COSMIC cancer census association via MalaCards
Search USP19 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for USP19

genes like me logo Genes that share disorders with USP19: view

No data available for UniProtKB/Swiss-Prot and Genatlas for USP19 Gene

Publications for USP19 Gene

  1. Ubiquitin-specific protease 19 (USP19) regulates hypoxia-inducible factor 1α (HIF-1α) during hypoxia. (PMID: 22128162) Altun M … Lindsten K (The Journal of biological chemistry 2012) 3 4
  2. The USP19 deubiquitinase regulates the stability of c-IAP1 and c-IAP2. (PMID: 21849505) Mei Y … Yang X (The Journal of biological chemistry 2011) 3 4
  3. The ER-resident ubiquitin-specific protease 19 participates in the UPR and rescues ERAD substrates. (PMID: 19465887) Hassink GC … Lindsten K (EMBO reports 2009) 3 4
  4. Human and mouse proteases: a comparative genomic approach. (PMID: 12838346) Puente XS … López-Otín C (Nature reviews. Genetics 2003) 2 3
  5. Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10048485) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1998) 3 4

Products for USP19 Gene

Sources for USP19 Gene