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UCHL3 ubiquitin C-terminal hydrolase L3 [ Homo sapiens (human) ]

Gene ID: 7347, updated on 8-Dec-2018

Summary

Official Symbol
UCHL3provided by HGNC
Official Full Name
ubiquitin C-terminal hydrolase L3provided by HGNC
Primary source
HGNC:HGNC:12515
See related
Ensembl:ENSG00000118939 MIM:603090
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
UCH-L3
Summary
The protein encoded by this gene is a member of the deubiquitinating enzyme family. Members of this family are proteases that catalyze the removal of ubiquitin from polypeptides and are divided into five classes, depending on the mechanism of catalysis. This protein may hydrolyze the ubiquitinyl-N-epsilon amide bond of ubiquitinated proteins to regenerate ubiquitin for another catalytic cycle. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Aug 2012]
Expression
Ubiquitous expression in thyroid (RPKM 5.1), testis (RPKM 4.9) and 25 other tissues See more
Orthologs

Genomic context

See UCHL3 in Genome Data Viewer
Location:
13q22.2
Exon count:
13
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 13 NC_000013.11 (75549480..75606020)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (76123616..76180156)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene TBC1 domain family member 4 Neighboring gene COMM domain containing 6 Neighboring gene LMO7 antisense RNA 1 Neighboring gene LIM domain 7 Neighboring gene family with sequence similarity 204 member C, pseudogene Neighboring gene LMO7DN intronic transcript 1 Neighboring gene LMO7 downstream neighbor

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association study in a Chinese population with diabetic retinopathy.
NHGRI GWA Catalog

Pathways from BioSystems

  • Deubiquitination, organism-specific biosystem (from REACTOME)
    Deubiquitination, organism-specific biosystemUbiquitination, the modification of proteins by the covalent attachment of ubiquitin (Ub), is a key regulatory mechanism for many many cellular processes, including protein degradation by the 26S pro...
  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
  • Post-translational protein modification, organism-specific biosystem (from REACTOME)
    Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
  • Proteasome Degradation, organism-specific biosystem (from WikiPathways)
    Proteasome Degradation, organism-specific biosystem
    Proteasome Degradation
  • Protein ubiquitination, organism-specific biosystem (from REACTOME)
    Protein ubiquitination, organism-specific biosystemUbiquitin is a small, 76 amino acid residue protein that is conjugated by E3 ubiquitin ligases to other proteins in order to regulate their function or degradation (enzymatic cascade reviewed in Neut...
  • Synthesis of active ubiquitin: roles of E1 and E2 enzymes, organism-specific biosystem (from REACTOME)
    Synthesis of active ubiquitin: roles of E1 and E2 enzymes, organism-specific biosystemUbiquitin monomers are processed from larger precursors and then activated by formation of a thiol ester bond between ubiquitin and a cysteine residue of an E1 activating enzyme (UBA1 or UBA6, Jin et...
  • UCH proteinases, organism-specific biosystem (from REACTOME)
    UCH proteinases, organism-specific biosystemDUBs of the Ub C-terminal Hydrolase (UCH) family are thiol proteases that have an N-terminal catalytic domain sometimes followed by C-terminal extensions that mediate protein-protein interactions. Hu...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
NEDD8-specific protease activity TAS
Traceable Author Statement
more info
 
peptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
thiol-dependent ubiquitin-specific protease activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
thiol-dependent ubiquitin-specific protease activity IDA
Inferred from Direct Assay
more info
PubMed 
thiol-dependent ubiquitinyl hydrolase activity TAS
Traceable Author Statement
more info
PubMed 
ubiquitin binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
post-translational protein modification TAS
Traceable Author Statement
more info
 
protein catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
protein deubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein deubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
protein deubiquitination TAS
Traceable Author Statement
more info
 
ubiquitin-dependent protein catabolic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
ubiquitin carboxyl-terminal hydrolase isozyme L3
Names
testicular tissue protein Li 221
ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase)
ubiquitin thioesterase L3
ubiquitin thiolesterase
NP_001257881.1
NP_005993.1
XP_011533514.1
XP_011533515.1
XP_011533516.1
XP_016876214.1
XP_016876215.1
XP_016876216.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001270952.1NP_001257881.1  ubiquitin carboxyl-terminal hydrolase isozyme L3 isoform 1

    See identical proteins and their annotated locations for NP_001257881.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes isoform 1.
    Source sequence(s)
    AA234624, AL137244, BC018125, BQ427804
    Consensus CDS
    CCDS73586.1
    UniProtKB/Swiss-Prot
    P15374
    UniProtKB/TrEMBL
    A0A087WTB8
    Related
    ENSP00000477746.1, ENST00000618773.4
    Conserved Domains (1) summary
    cd09616
    Location:1191
    Peptidase_C12_UCH_L1_L3; Cysteine peptidase C12 containing ubiquitin carboxyl-terminal hydrolase (UCH) families L1 and L3
  2. NM_006002.4NP_005993.1  ubiquitin carboxyl-terminal hydrolase isozyme L3 isoform 2

    See identical proteins and their annotated locations for NP_005993.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an alternate exon in the 5' coding region and initiates translation at an alternate start codon compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is longer than isoform 1.
    Source sequence(s)
    AA234624, BC018125, DA820150
    Consensus CDS
    CCDS9453.1
    UniProtKB/Swiss-Prot
    P15374
    UniProtKB/TrEMBL
    A0A140VJZ4
    Related
    ENSP00000366819.3, ENST00000377595.7
    Conserved Domains (1) summary
    cd09616
    Location:6227
    Peptidase_C12_UCH_L1_L3; Cysteine peptidase C12 containing ubiquitin carboxyl-terminal hydrolase (UCH) families L1 and L3

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p12 Primary Assembly

    Range
    75549480..75606020
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011535214.2XP_011533516.1  ubiquitin carboxyl-terminal hydrolase isozyme L3 isoform X4

    See identical proteins and their annotated locations for XP_011533516.1

    Related
    ENSP00000398189.1, ENST00000419068.1
    Conserved Domains (1) summary
    cd09616
    Location:1255
    Peptidase_C12_UCH_L1_L3; Cysteine peptidase C12 containing ubiquitin carboxyl-terminal hydrolase (UCH) families L1 and L3
  2. XM_011535212.1XP_011533514.1  ubiquitin carboxyl-terminal hydrolase isozyme L3 isoform X1

    Conserved Domains (1) summary
    cd09616
    Location:6291
    Peptidase_C12_UCH_L1_L3; Cysteine peptidase C12 containing ubiquitin carboxyl-terminal hydrolase (UCH) families L1 and L3
  3. XM_017020725.1XP_016876214.1  ubiquitin carboxyl-terminal hydrolase isozyme L3 isoform X3

  4. XM_017020726.1XP_016876215.1  ubiquitin carboxyl-terminal hydrolase isozyme L3 isoform X5

  5. XM_011535213.2XP_011533515.1  ubiquitin carboxyl-terminal hydrolase isozyme L3 isoform X2

    Conserved Domains (1) summary
    cd09616
    Location:6287
    Peptidase_C12_UCH_L1_L3; Cysteine peptidase C12 containing ubiquitin carboxyl-terminal hydrolase (UCH) families L1 and L3
  6. XM_017020727.1XP_016876216.1  ubiquitin carboxyl-terminal hydrolase isozyme L3 isoform X6

    Conserved Domains (1) summary
    cd09616
    Location:6223
    Peptidase_C12_UCH_L1_L3; Cysteine peptidase C12 containing ubiquitin carboxyl-terminal hydrolase (UCH) families L1 and L3
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