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Aliases for USP12 Gene

Aliases for USP12 Gene

  • Ubiquitin Specific Peptidase 12 2 3 5
  • Ubiquitin-Specific-Processing Protease 12 3 4
  • Ubiquitin Specific Protease 12 Like 1 2 3
  • Ubiquitin-Hydrolyzing Enzyme 1 3 4
  • Deubiquitinating Enzyme 12 3 4
  • Ubiquitin Thioesterase 12 3 4
  • USP12L1 3 4
  • UBH1 3 4
  • Ubiquitin Carboxyl-Terminal Hydrolase 12 3
  • Ubiquitin Specific Protease 12 2
  • Ubiquitin Thiolesterase 12 3
  • EC 3.4.19.12 4
  • EC 3.1.2.15 61

External Ids for USP12 Gene

Previous HGNC Symbols for USP12 Gene

  • USP12L1

Previous GeneCards Identifiers for USP12 Gene

  • GC05U990084
  • GC13M026570
  • GC13M025440
  • GC13M025438
  • GC13M026540
  • GC13M027640
  • GC13M008462

Summaries for USP12 Gene

GeneCards Summary for USP12 Gene

USP12 (Ubiquitin Specific Peptidase 12) is a Protein Coding gene. Among its related pathways are Deubiquitination and Ubiquitin-Proteasome Dependent Proteolysis. GO annotations related to this gene include cysteine-type endopeptidase activity and thiol-dependent ubiquitinyl hydrolase activity. An important paralog of this gene is USP46.

UniProtKB/Swiss-Prot for USP12 Gene

  • Deubiquitinating enzyme. Has almost no deubiquitinating activity by itself and requires the interaction with WDR20 and WDR48 to have a high activity (PubMed:19075014, PubMed:27373336). Not involved in deubiquitination of monoubiquitinated FANCD2 (PubMed:19075014). In complex with WDR48, acts as a potential tumor suppressor by positively regulating PHLPP1 stability (PubMed:24145035).

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for USP12 Gene

Genomics for USP12 Gene

Regulatory Elements for USP12 Gene

Enhancers for USP12 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH13G027137 1 ENCODE 19.9 +33.6 33611 1.8 PKNOX1 ATF1 TCF12 ZNF766 ELK1 GATA2 KLF13 CAVIN1 ZNF592 MEF2D USP12 USP12-AS2 RPL21 SNORA27 SNORD102 LINC00412 RASL11A USP12-AS1
GH13G027250 1.4 ENCODE dbSUPER 14 -80.4 -80383 4.1 PKNOX1 FOXA2 CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 FEZF1 ZNF2 YY1 USP12 WASF3 PAN3 SNORA27 MTIF3 PIR55933 GC13M027245
GH13G027182 1.2 Ensembl ENCODE 15.6 -11.3 -11270 2.0 PKNOX1 FOXA2 ATF1 ARID4B SIN3A FEZF1 YY1 TCF12 GATA2 FOS USP12 LINC00412 RPL21 SNORA27 SNORD102 RASL11A MTIF3 USP12-AS2 PIR56248
GH13G027174 0.8 FANTOM5 ENCODE 20.6 -3.1 -3062 0.8 HLF CEBPB HMBOX1 USP12 LINC00412 RPL21 SNORA27 SNORD102 RASL11A USP12-AS2 PIR56248
GH13G027194 1.1 Ensembl ENCODE 14.2 -23.4 -23409 2.4 TBP ZSCAN4 INSM2 KLF17 SIN3A FEZF1 GATA2 ZNF366 FOS BCLAF1 USP12 RASL11A LINC00412 SNORD102 RPL21 SNORA27 MTIF3 PIR56248 USP12-AS2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around USP12 on UCSC Golden Path with GeneCards custom track

Promoters for USP12 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000060303 396 2601 ATF1 ARNT ARID4B SIN3A FEZF1 ZNF48 YY1 TCF12 GLIS2 GATA2

Genomic Location for USP12 Gene

Chromosome:
13
Start:
27,066,142 bp from pter
End:
27,171,896 bp from pter
Size:
105,755 bases
Orientation:
Minus strand

Genomic View for USP12 Gene

Genes around USP12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
USP12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for USP12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for USP12 Gene

Proteins for USP12 Gene

  • Protein details for USP12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75317-UBP12_HUMAN
    Recommended name:
    Ubiquitin carboxyl-terminal hydrolase 12
    Protein Accession:
    O75317
    Secondary Accessions:
    • A8K0X0
    • Q5VZV3
    • Q8TC49

    Protein attributes for USP12 Gene

    Size:
    370 amino acids
    Molecular mass:
    42858 Da
    Quaternary structure:
    • Interacts with WDR48 (PubMed:19075014, PubMed:27650958, PubMed:27373336). Interacts with WDR20 (PubMed:20147737, PubMed:27373336). Component of the USP12/WDR20/WDR48 deubiquitinating complex (PubMed:20147737, PubMed:27373336). Interacts with PHLPP1 (PubMed:24145035).
    Miscellaneous:
    • Knockdown of USP12 increases Akt activation.
    SequenceCaution:
    • Sequence=AAC23551.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for USP12 Gene

neXtProt entry for USP12 Gene

Selected DME Specific Peptides for USP12 Gene

O75317:
  • FDDDIVEK
  • KLSYRVVFPLEL
  • KQEKQNG
  • TCLADLF
  • PNRGHYI
  • IGPEQFP
  • ILALHLKRFKYM
  • QQDAHEF
  • NEHYFGLVNFGNTCYCNSVLQALYFCRPFRE
  • FSNTETLCSE
  • CTMGANASALEKEIG
  • LTNETRCL
  • QDAHEFLNYLLN
  • DRMYDLVA
  • FQGTLTN
  • DVEQNTSI

Post-translational modifications for USP12 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for USP12 Gene

Domains & Families for USP12 Gene

Gene Families for USP12 Gene

Protein Domains for USP12 Gene

Suggested Antigen Peptide Sequences for USP12 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O75317

UniProtKB/Swiss-Prot:

UBP12_HUMAN :
  • Belongs to the peptidase C19 family. USP12/USP46 subfamily.
Family:
  • Belongs to the peptidase C19 family. USP12/USP46 subfamily.
genes like me logo Genes that share domains with USP12: view

Function for USP12 Gene

Molecular function for USP12 Gene

GENATLAS Biochemistry:
ubiquitin specific protease 12,mainly expressed in retina,olfactory epithelium,peripheral neuronal ganglia and distinct areas of the gut,involved in deubiquitina,deubiquitin enzyme family
UniProtKB/Swiss-Prot CatalyticActivity:
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).
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by interaction with WDR20 and WDR48 through different allosteric mechanisms.
UniProtKB/Swiss-Prot Function:
Deubiquitinating enzyme. Has almost no deubiquitinating activity by itself and requires the interaction with WDR20 and WDR48 to have a high activity (PubMed:19075014, PubMed:27373336). Not involved in deubiquitination of monoubiquitinated FANCD2 (PubMed:19075014). In complex with WDR48, acts as a potential tumor suppressor by positively regulating PHLPP1 stability (PubMed:24145035).

Enzyme Numbers (IUBMB) for USP12 Gene

Gene Ontology (GO) - Molecular Function for USP12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004197 cysteine-type endopeptidase activity IMP 19075014
GO:0004843 thiol-dependent ubiquitin-specific protease activity IDA 19075014
GO:0005515 protein binding IPI 19075014
GO:0008233 peptidase activity IEA --
GO:0008234 cysteine-type peptidase activity IEA --
genes like me logo Genes that share ontologies with USP12: view
genes like me logo Genes that share phenotypes with USP12: view

Animal Models for USP12 Gene

MGI Knock Outs for USP12:

Animal Model Products

  • Taconic Biosciences Mouse Models for USP12

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for USP12 Gene

Localization for USP12 Gene

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 USP12 gene
Compartment Confidence
nucleus 5
cytosol 2
mitochondrion 1
peroxisome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for USP12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005654 nucleoplasm TAS --
genes like me logo Genes that share ontologies with USP12: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for USP12 Gene

Pathways & Interactions for USP12 Gene

genes like me logo Genes that share pathways with USP12: view

Pathways by source for USP12 Gene

Gene Ontology (GO) - Biological Process for USP12 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 TAS --
genes like me logo Genes that share ontologies with USP12: view

No data available for SIGNOR curated interactions for USP12 Gene

Drugs & Compounds for USP12 Gene

No Compound Related Data Available

Transcripts for USP12 Gene

Unigene Clusters for USP12 Gene

Ubiquitin specific peptidase 12:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for USP12 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b · 9c
SP1: - -
SP2:
SP3: -
SP4: - -
SP5:

Relevant External Links for USP12 Gene

GeneLoc Exon Structure for
USP12
ECgene alternative splicing isoforms for
USP12

Expression for USP12 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for USP12 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for USP12 Gene

This gene is overexpressed in Nasal epithelium (41.2) and Lung (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for USP12 Gene



NURSA nuclear receptor signaling pathways regulating expression of USP12 Gene:

USP12

SOURCE GeneReport for Unigene cluster for USP12 Gene:

Hs.42400

Evidence on tissue expression from TISSUES for USP12 Gene

  • Nervous system(4.5)
genes like me logo Genes that share expression patterns with USP12: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for USP12 Gene

Orthologs for USP12 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for USP12 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia USP12 34 35
  • 99.73 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 97 (a)
OneToMany
-- 35
  • 94 (a)
OneToMany
dog
(Canis familiaris)
Mammalia USP12 34 35
  • 95.23 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia USP12 35
  • 94 (a)
OneToOne
cow
(Bos Taurus)
Mammalia USP12 34 35
  • 93.68 (n)
rat
(Rattus norvegicus)
Mammalia Usp12 34
  • 90.72 (n)
mouse
(Mus musculus)
Mammalia Usp12 34 16 35
  • 90.18 (n)
chicken
(Gallus gallus)
Aves USP12 34 35
  • 89.08 (n)
lizard
(Anolis carolinensis)
Reptilia USP12 35
  • 98 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100494517 34
  • 85.14 (n)
zebrafish
(Danio rerio)
Actinopterygii USP12 (1 of 2) 35
  • 88 (a)
OneToMany
usp12a 34 35
  • 76.94 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG7023 35
  • 62 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea usp-46 35
  • 58 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes UBP9 35
  • 19 (a)
ManyToMany
UBP13 35
  • 18 (a)
ManyToMany
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.4818 34
rice
(Oryza sativa)
Liliopsida Os03g0190800 34
  • 60.73 (n)
barley
(Hordeum vulgare)
Liliopsida Hv.7715 34
wheat
(Triticum aestivum)
Liliopsida Ta.7011 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 55 (a)
OneToMany
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ubp9 34
  • 54.43 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU08378 34
  • 52.61 (n)
Species where no ortholog for USP12 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • 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 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)

Evolution for USP12 Gene

ENSEMBL:
Gene Tree for USP12 (if available)
TreeFam:
Gene Tree for USP12 (if available)

Paralogs for USP12 Gene

Variants for USP12 Gene

Sequence variations from dbSNP and Humsavar for USP12 Gene

SNP ID Clin Chr 13 pos Sequence Context AA Info Type
rs1000002765 -- 27,099,250(+) TGTTA(C/T)TGTAA intron-variant
rs1000015659 -- 27,131,398(+) ACAGA(A/G)ATCAA intron-variant
rs1000095417 -- 27,099,523(+) TTTCC(A/G)TTTAA intron-variant
rs1000149130 -- 27,167,472(+) TCTCC(A/G)CCAAG intron-variant
rs1000194748 -- 27,123,472(+) CATCC(A/G)ATACT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for USP12 Gene

Variant ID Type Subtype PubMed ID
nsv1118261 CNV deletion 24896259
nsv972 CNV insertion 18451855
nsv983568 CNV duplication 23825009

Variation tolerance for USP12 Gene

Residual Variation Intolerance Score: 21.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.00; 20.59% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for USP12 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
USP12

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for USP12 Gene

Disorders for USP12 Gene

Relevant External Links for USP12

Genetic Association Database (GAD)
USP12
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
USP12

No disorders were found for USP12 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for USP12 Gene

Publications for USP12 Gene

  1. An evolutionarily conserved gene on human chromosome 5q33-q34, UBH1, encodes a novel deubiquitinating enzyme. (PMID: 9615226) Hansen-Hagge T.E. … Bartram C.R. (Genomics 1998) 3 4 22 64
  2. Allosteric activation of ubiquitin-specific proteases by beta- propeller proteins UAF1 and WDR20. (PMID: 27373336) Li H. … Zheng N. (Mol. Cell 2016) 3 4 64
  3. A conserved two-step binding for the UAF1 regulator to the USP12 deubiquitinating enzyme. (PMID: 27650958) Dharadhar S. … Sixma T.K. (J. Struct. Biol. 2016) 3 4 64
  4. WD repeat protein WDR48 in complex with deubiquitinase USP12 suppresses Akt-dependent cell survival signaling by stabilizing PH domain leucine-rich repeat protein phosphatase 1 (PHLPP1). (PMID: 24145035) Gangula N.R. … Maddika S. (J. Biol. Chem. 2013) 3 4 64
  5. WDR20 regulates activity of the USP12 x UAF1 deubiquitinating enzyme complex. (PMID: 20147737) Kee Y. … D'Andrea A.D. (J. Biol. Chem. 2010) 3 4 64

Products for USP12 Gene

Sources for USP12 Gene

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