Aliases for USP12 Gene

Aliases for USP12 Gene

  • Ubiquitin Specific Peptidase 12 2 3 5
  • Ubiquitin-Specific-Processing Protease 12 3 4
  • Ubiquitin Carboxyl-Terminal Hydrolase 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 Specific Protease 12 2
  • Ubiquitin Thiolesterase 12 3
  • EC 3.4.19.12 4
  • EC 3.1.2.15 50
  • USP12 5

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. Diseases associated with USP12 include Tracheal Cancer. 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 ubiquitinyl hydrolase activity. An important paralog of this gene is USP46.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for USP12 Gene

Genomics for USP12 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for USP12 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 USP12 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for USP12

Top Transcription factor binding sites by QIAGEN in the USP12 gene promoter:
  • Bach1
  • FOXD3
  • FOXF2
  • FOXJ2
  • FOXJ2 (long isoform)
  • Ik-1
  • IRF-2
  • Nkx2-2
  • POU2F1
  • POU2F1a

Genomic Locations for USP12 Gene

Latest Assembly
chr13:27,066,154-27,171,811
(GRCh38/hg38)
Size:
105,658 bases
Orientation:
Minus strand

Previous Assembly
chr13:27,640,293-27,745,948
(GRCh37/hg19 by Entrez Gene)
Size:
105,656 bases
Orientation:
Minus strand

chr13:27,640,293-27,746,033
(GRCh37/hg19 by Ensembl)
Size:
105,741 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).
    SequenceCaution:
    • Sequence=AAC23551.1; Type=Erroneous initiation; Evidence={ECO:0000305};
    Miscellaneous:
    • Knockdown of USP12 increases Akt activation.

    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

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

Protein Domains for USP12 Gene

InterPro:
Blocks:
  • Ubiquitin thiolesterase, family 2

Suggested Antigen Peptide Sequences for USP12 Gene

GenScript: Design optimal peptide antigens:
  • Ubiquitin-specific-processing protease 12 (UBP12_HUMAN)

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

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).
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; Evidence={ECO:0000269|PubMed:19075014};.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by interaction with WDR20 and WDR48 through different allosteric mechanisms.
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

Enzyme Numbers (IUBMB) for USP12 Gene

Phenotypes From GWAS Catalog 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 IBA,IMP 19075014
GO:0004843 thiol-dependent ubiquitin-specific protease activity IBA,TAS 9615226
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:
  • Usp12 Usp12<tm1a(EUCOMM)Hmgu>
  • Usp12 Usp12<tm1b(EUCOMM)Hmgu>

Animal Models for research

  • Taconic Biosciences Mouse Models for USP12

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for USP12

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 4
cytosol 4
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for USP12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005634 nucleus IBA 21873635
GO:0005654 nucleoplasm TAS --
GO:0005829 cytosol IBA 21873635
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

PathCards logo

SuperPathways for USP12 Gene

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

Pathways by source for USP12 Gene

1 Qiagen pathway for USP12 Gene
  • Ubiquitin-Proteasome Dependent Proteolysis

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 IBA,TAS --
GO:0018215 protein phosphopantetheinylation IEA --
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

mRNA/cDNA for USP12 Gene

1 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
3 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 USP12

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

Expression for USP12 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for USP12 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for USP12

SOURCE GeneReport for Unigene cluster for USP12 Gene:

Hs.42400

Evidence on tissue expression from TISSUES for USP12 Gene

  • Nervous system(4.6)
  • Kidney(2.2)
genes like me logo Genes that share expression patterns with USP12: view

Primer products for research

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 29 30
  • 99.73 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 97 (a)
OneToMany
-- 30
  • 94 (a)
OneToMany
Dog
(Canis familiaris)
Mammalia USP12 29 30
  • 95.23 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia USP12 30
  • 94 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia USP12 29 30
  • 93.68 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Usp12 29
  • 90.72 (n)
Mouse
(Mus musculus)
Mammalia Usp12 29 16 30
  • 90.18 (n)
OneToOne
Chicken
(Gallus gallus)
Aves USP12 29 30
  • 89.08 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia USP12 30
  • 98 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100494517 29
  • 85.14 (n)
Zebrafish
(Danio rerio)
Actinopterygii USP12 (1 of 2) 30
  • 88 (a)
OneToMany
usp12a 29 30
  • 76.94 (n)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta CG7023 30
  • 62 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea usp-46 30
  • 58 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes UBP9 30
  • 19 (a)
ManyToMany
UBP13 30
  • 18 (a)
ManyToMany
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.4818 29
Rice
(Oryza sativa)
Liliopsida Os03g0190800 29
  • 60.73 (n)
Barley
(Hordeum vulgare)
Liliopsida Hv.7715 29
Wheat
(Triticum aestivum)
Liliopsida Ta.7011 29
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 55 (a)
OneToMany
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ubp9 29
  • 54.43 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU08378 29
  • 52.61 (n)
Species where no ortholog for USP12 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)
  • 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for USP12: view image
Alliance of Genome Resources:
Additional Orthologs for USP12

Paralogs for USP12 Gene

Paralogs for USP12 Gene

(1) SIMAP similar genes for USP12 Gene using alignment to 1 proteins:

  • UBP12_HUMAN
genes like me logo Genes that share paralogs with USP12: view

Variants for USP12 Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for USP12 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 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)

Additional Variant Information for USP12 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
USP12
Leiden Open Variation Database (LOVD)
USP12

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for USP12 Gene

Disorders for USP12 Gene

MalaCards: The human disease database

(1) MalaCards diseases for USP12 Gene - From: COP

Disorder Aliases PubMed IDs
tracheal cancer
  • tracheal carcinoma
- elite association - COSMIC cancer census association via MalaCards
Search USP12 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for USP12

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

No data available for 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 TE … Bartram CR (Genomics 1998) 3 4 22
  2. Allosteric Activation of Ubiquitin-Specific Proteases by β-Propeller Proteins UAF1 and WDR20. (PMID: 27373336) Li H … Zheng N (Molecular cell 2016) 3 4
  3. A conserved two-step binding for the UAF1 regulator to the USP12 deubiquitinating enzyme. (PMID: 27650958) Dharadhar S … Sixma TK (Journal of structural biology 2016) 3 4
  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 NR … Maddika S (The Journal of biological chemistry 2013) 3 4
  5. WDR20 regulates activity of the USP12 x UAF1 deubiquitinating enzyme complex. (PMID: 20147737) Kee Y … D'Andrea AD (The Journal of biological chemistry 2010) 3 4

Products for USP12 Gene

Sources for USP12 Gene