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FLASH GENE
Symbol UCHL3 contributors: mct - updated : 25-11-2015
HGNC name ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase)
HGNC id 12515
Location 13q22.2      Physical location : 76.123.926 - 76.180.066
Synonym name ubiquitin thiolesterase
Synonym symbol(s) UBL3, UCH-L3
EC.number 3.1.2.15, 3.4.19.12
DNA
TYPE functioning gene
SPECIAL FEATURE arranged in tandem
STRUCTURE 56.14 kb     9 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
Physical map
DACH 13q21-q22 dachshund homolog (Drosophila) FLJ22624 13q21.33 FLJ22624 protein DIS3 13q21.33 FLJ22624 protein PIBF1 13q21.33 progesterone-induced blocking factor 1 LOC338091 13q21 proteasome 26S non-ATPase subunit 10 pseudogene KLF5 13q21.33 Kruppel-like factor 5 (intestinal) LOC387934 13 similar to Fatty acid-binding protein, epidermal (E-FABP) (Psoriasis-associated fatty acid-binding protein homolog) (PA-FABP) LOC122134 13q21.33 similar to MAP/microtubule affinity-regulating kinase 3 LOC387935 13 LOC387935 KLF12 13q22 Kruppel-like factor 12 LOC122145 13q21.33 suppressor of bimD6 homolog pseudogene LOC387936 13 hypothetical gene supported by AL133018 LOC387937 13 LOC387937 TBC1D4 13q22 TBC1 domain family, member 4 AK000009  Acrg embryonic lethality (mouse) minimal region ortholog UCHL3 13q22 ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase) LMO7 13q22 LIM domain only 7 KCTD12 13q21 potassium channel tetramerisation domain containing 12 BTF3L1 13q22 basic transcription factor 3, like 1 LOC341720 13q22.1 similar to immune-responsive gene 1 LOC390413 13 similar to 60S ribosomal protein L7 DHX9P 13q21 DEAH (Asp-Glu-Ala-His) box polypeptide 9 pseudogene CLN5 13q22 ceroid-lipofuscinosis, neuronal 5 FBXL3A 13q22 F-box and leucine-rich repeat protein 3A PAM 5q15 peptidylglycine alpha-amidating monooxygenase SCEL 13q22 sciellin LOC390414 13 similar to chromosome 15 open reading frame 2 FLJ30046 13q22.1 hypothetical protein FLJ30046 EDNRB 13q22 endothelin receptor type B POU4F1 13q21.1-q22 POU domain, class 4, transcription factor 1 C13orf7 13q22.2 chromosome 13 open reading frame 7 LOC341732 13q22.2 similar to 60 kDa heat shock protein, mitochondrial precursor (Hsp60) (60 kDa chaperonin) (CPN60) (Heat shock protein 60) (HSP-60) (Mitochondrial matrix protein P1) (P60 lymphocyte protein) (HuCHA60) LOC390415 13 similar to T-complex protein 1, epsilon subunit (TCP-1-epsilon) (CCT-epsilon) C13orf10 13q22.1 chromosome 13 open reading frame 10 NDFIP2 13q22.1 Nedd4 family interacting protein 2 SPRY2 13q31-q32 sprouty homolog 2 (Drosophila)
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
9 - 899 - 230 - 2002 11829485
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   highly
Endocrineneuroendocrinepituitary  highly
Reproductivefemale systemplacenta  highly
Respiratorylung   moderately
Urinarykidney   highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connectivebone  highly
Muscularstriatumskeletal  
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period embryo, fetal
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
ubuquitin carboxyl-terminal hydrolase domain
HOMOLOGY
interspecies homolog to murine Uchl3 and Uchl4
intraspecies homolog to UCHL1
Homologene
FAMILY ubiquitin carboxyl terminal hydrolase family 1
CATEGORY enzyme
SUBCELLULAR LOCALIZATION     intracellular
intracellular,cytoplasm,organelle,mitochondria
intracellular,nucleus
basic FUNCTION
  • involved both in the processing of ubiquitin precursors and of ubiquinated proteins
  • required to maintain a stable apical membrane ENaC (epithelial sodium channel) population by facilitating the dynamic recycling of ENaC at the apical surface
  • regulates the apical membrane recycling of the epithelial sodium channel
  • may promotes adipogenesis by enhancing insulin signaling in a hydrolase activity-dependent manner
  • potential functions as a de-ubiquitinating enzyme where lack of its hydrolase activity may result in the prominent accumulation of ubiquitinated proteins and subsequent induction of stress responses in skeletal muscle
  • deubiquitinating enzyme, upregulated in BMP2-induced osteoblast differentiation
  • enhances osteoblast differentiation through the stabilization of SMAD1 signaling, acting to fine-tune the process of SMAD1 activation
  • essential role of maternal UCHL1 and UCHL3 in fertilization and preimplantation embryo development
  • UCHL3 and UCHL5 are considered to be tumor promoters, while BAP1 is considered to be a tumor suppressor, and UCH enzymes influence several signaling pathways that play crucial roles in oncogenesis, tumor invasion, and migration
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • physically interacts with SMAD1 and dramatically decreases the amount of poly-ubiquitinated SMAD1
  • cell & other
    REGULATION
    Other Ub dimers may regulate the enzymatic functions of UCHL3
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    impaired UCHL3 function may contribute to the accumulation of full length mutant ubiquitin in various pathologies
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Uchl3(-/-) mice had less visceral white adipose tissue compared with wild-type mice