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

Gene ID: 7347, updated on 5-Dec-2021

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
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Genomic context

See UCHL3 in Genome Data Viewer
Location:
13q22.2
Exon count:
13
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 13 NC_000013.11 (75549490..75606020)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (76123638..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 Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide association study in a Chinese population with diabetic retinopathy.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables NEDD8-specific protease activity TAS
Traceable Author Statement
more info
 
enables peptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables thiol-dependent deubiquitinase EXP
Inferred from Experiment
more info
PubMed 
enables thiol-dependent deubiquitinase IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables thiol-dependent deubiquitinase IDA
Inferred from Direct Assay
more info
PubMed 
enables thiol-dependent deubiquitinase TAS
Traceable Author Statement
more info
PubMed 
enables ubiquitin binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
involved_in post-translational protein modification TAS
Traceable Author Statement
more info
 
involved_in protein catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in protein deubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in protein deubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
involved_in protein deubiquitination TAS
Traceable Author Statement
more info
 
involved_in protein ubiquitination TAS
Traceable Author Statement
more info
 
involved_in ubiquitin-dependent protein catabolic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in nucleoplasm 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)

NEW Try the new Transcript table

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_001270952.2NP_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_006002.5NP_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
    Consensus CDS
    CCDS9453.1
    UniProtKB/Swiss-Prot
    P15374
    UniProtKB/TrEMBL
    A0A140VJZ4
    Related
    ENSP00000366819.3, ENST00000377595.8
    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 Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p13 Primary Assembly

    Range
    75549490..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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