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

    Gene ID: 7347, updated on 12-Nov-2024

    Summary

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    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; AllianceGenome:HGNC:12515
    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
    mouse all
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    Genomic context

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    See UCHL3 in Genome Data Viewer
    Location:
    13q22.2
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (75549502..75606020)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (74773163..74829671)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (76123638..76180156)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7821 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr13:75899800-75900999 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7822 Neighboring gene TBC1 domain family member 4 Neighboring gene Sharpr-MPRA regulatory region 11619 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:75935886-75936406 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7823 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7824 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7825 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7826 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5401 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5402 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7827 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7828 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7829 Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:76123825-76124385 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7831 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7830 Neighboring gene COMM domain containing 6 Neighboring gene ReSE screen-validated silencer GRCh37_chr13:76200739-76200877 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5403 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5404 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5405 Neighboring gene LMO7 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7834 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr13:76259126-76259626 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr13:76259627-76260127 Neighboring gene LIM domain 7 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr13:76279181-76280380 Neighboring gene family with sequence similarity 204 member C, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7835 Neighboring gene NANOG hESC enhancer GRCh37_chr13:76377179-76377853 Neighboring gene NANOG hESC enhancer GRCh37_chr13:76399228-76399729 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5406 Neighboring gene LMO7DN intronic transcript 1 Neighboring gene LMO7 downstream neighbor

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Role of UCHL3 in health and disease.
      Title: Role of UCHL3 in health and disease.
    2. UCHL3 promotes hepatocellular carcinoma progression by stabilizing EEF1A1 through deubiquitination.
      Title: UCHL3 promotes hepatocellular carcinoma progression by stabilizing EEF1A1 through deubiquitination.
    3. GSK3beta and UCHL3 govern RIPK4 homeostasis via deubiquitination to enhance tumor metastasis in ovarian cancer.
      Title: GSK3β and UCHL3 govern RIPK4 homeostasis via deubiquitination to enhance tumor metastasis in ovarian cancer.
    4. UCHL-3 as a potential biomarker of ovarian cancer.
      Title: UCHL-3 as a potential biomarker of ovarian cancer.
    5. CircMTA2 Drives Gastric Cancer Progression through Suppressing MTA2 Degradation via Interacting with UCHL3.
      Title: CircMTA2 Drives Gastric Cancer Progression through Suppressing MTA2 Degradation via Interacting with UCHL3.
    6. UCHL3 inhibits ferroptosis by stabilizing beta-catenin and maintains stem-like properties of hepatocellular carcinoma cells.
      Title: UCHL3 inhibits ferroptosis by stabilizing β-catenin and maintains stem-like properties of hepatocellular carcinoma cells.
    7. Activation of CTNNB1 by deubiquitinase UCHL3-mediated stabilization facilitates bladder cancer progression.
      Title: Activation of CTNNB1 by deubiquitinase UCHL3-mediated stabilization facilitates bladder cancer progression.
    8. The deubiquitinase UCHL3 mediates p300-dependent chemokine signaling in alveolar type II cells to promote pulmonary fibrosis.
      Title: The deubiquitinase UCHL3 mediates p300-dependent chemokine signaling in alveolar type II cells to promote pulmonary fibrosis.
    9. Rational Development and Characterization of a Ubiquitin Variant with Selectivity for Ubiquitin C-Terminal Hydrolase L3.
      Title: Rational Development and Characterization of a Ubiquitin Variant with Selectivity for Ubiquitin C-Terminal Hydrolase L3.
    10. Knockdown of UCHL3 inhibits esophageal squamous cell carcinoma progression by reducing CRY2 methylation.
      Title: Knockdown of UCHL3 inhibits esophageal squamous cell carcinoma progression by reducing CRY2 methylation.
    Submit: New GeneRIF Correction See all GeneRIFs (34)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association study in a Chinese population with diabetic retinopathy.
    EBI GWAS Catalog

    Variation

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    See Variation Viewer (GRCh37.p13)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cysteine-type deubiquitinase activity EXP
    Inferred from Experiment
    more info
    		 PubMed 
    enables cysteine-type deubiquitinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables cysteine-type deubiquitinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables cysteine-type deubiquitinase activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables deNEDDylase 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 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
    		  
    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
    		  
    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

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    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
    XP_047286538.1
    XP_047286539.1
    XP_054230891.1
    XP_054230892.1
    XP_054230893.1
    XP_054230894.1
    XP_054230895.1
    XP_054230896.1
    XP_054230897.1
    XP_054230898.1

    NCBI Reference Sequences (RefSeq)

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    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_001270952.2 → NP_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
      Conserved Domains (1) summary
      cd09616
      Location:1 → 191
      Peptidase_C12_UCH_L1_L3; Cysteine peptidase C12 containing ubiquitin carboxyl-terminal hydrolase (UCH) families L1 and L3

    2. NM_006002.5 → NP_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
      B2R970, P15374, Q5TBK8, Q6IBE9
      UniProtKB/TrEMBL
      A0A140VJZ4
      Related
      ENSP00000366819.3, ENST00000377595.8
      Conserved Domains (1) summary
      cd09616
      Location:6 → 227
      Peptidase_C12_UCH_L1_L3; Cysteine peptidase C12 containing ubiquitin carboxyl-terminal hydrolase (UCH) families L1 and L3

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      75549502..75606020
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011535214.3 → XP_011533516.1  ubiquitin carboxyl-terminal hydrolase isozyme L3 isoform X4

      See identical proteins and their annotated locations for XP_011533516.1

      UniProtKB/TrEMBL
      Q5TBK7
      Related
      ENSP00000398189.1, ENST00000419068.1
      Conserved Domains (1) summary
      cd09616
      Location:1 → 255
      Peptidase_C12_UCH_L1_L3; Cysteine peptidase C12 containing ubiquitin carboxyl-terminal hydrolase (UCH) families L1 and L3

    2. XM_011535212.2 → XP_011533514.1  ubiquitin carboxyl-terminal hydrolase isozyme L3 isoform X1

      Conserved Domains (1) summary
      cd09616
      Location:6 → 291
      Peptidase_C12_UCH_L1_L3; Cysteine peptidase C12 containing ubiquitin carboxyl-terminal hydrolase (UCH) families L1 and L3

    3. XM_011535213.3 → XP_011533515.1  ubiquitin carboxyl-terminal hydrolase isozyme L3 isoform X2

      Conserved Domains (1) summary
      cd09616
      Location:6 → 287
      Peptidase_C12_UCH_L1_L3; Cysteine peptidase C12 containing ubiquitin carboxyl-terminal hydrolase (UCH) families L1 and L3

    4. XM_017020727.2 → XP_016876216.1  ubiquitin carboxyl-terminal hydrolase isozyme L3 isoform X6

      Conserved Domains (1) summary
      cd09616
      Location:6 → 223
      Peptidase_C12_UCH_L1_L3; Cysteine peptidase C12 containing ubiquitin carboxyl-terminal hydrolase (UCH) families L1 and L3

    5. XM_017020725.2 → XP_016876214.1  ubiquitin carboxyl-terminal hydrolase isozyme L3 isoform X3

    6. XM_047430582.1 → XP_047286538.1  ubiquitin carboxyl-terminal hydrolase isozyme L3 isoform X7

    7. XM_017020726.2 → XP_016876215.1  ubiquitin carboxyl-terminal hydrolase isozyme L3 isoform X5

    8. XM_047430583.1 → XP_047286539.1  ubiquitin carboxyl-terminal hydrolase isozyme L3 isoform X8

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      74773163..74829671
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054374919.1 → XP_054230894.1  ubiquitin carboxyl-terminal hydrolase isozyme L3 isoform X4

    2. XM_054374916.1 → XP_054230891.1  ubiquitin carboxyl-terminal hydrolase isozyme L3 isoform X1

    3. XM_054374917.1 → XP_054230892.1  ubiquitin carboxyl-terminal hydrolase isozyme L3 isoform X2

    4. XM_054374921.1 → XP_054230896.1  ubiquitin carboxyl-terminal hydrolase isozyme L3 isoform X6

    5. XM_054374918.1 → XP_054230893.1  ubiquitin carboxyl-terminal hydrolase isozyme L3 isoform X3

    6. XM_054374922.1 → XP_054230897.1  ubiquitin carboxyl-terminal hydrolase isozyme L3 isoform X7

    7. XM_054374920.1 → XP_054230895.1  ubiquitin carboxyl-terminal hydrolase isozyme L3 isoform X5

    8. XM_054374923.1 → XP_054230898.1  ubiquitin carboxyl-terminal hydrolase isozyme L3 isoform X8

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P15374.1 GenPept UniProtKB/Swiss-Prot:P15374

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