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ZIRC
ZFIN ID: ZDB-GENE-030131-3844
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Gene Name: ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
Gene Symbol: uchl1    Nomenclature History

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Previous Names: cb358 (1), wu:fc55h08

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(Including Attributions)
Gene Type: protein_coding_gene
Location: Chr: 1 Mapping Details/Browsers
Description: Predicted to have thiol-dependent ubiquitin-specific protease activity. Predicted to be involved in protein deubiquitination. Predicted to localize to the cytoplasm. Human ortholog(s) of this gene implicated in Alzheimer's disease; hereditary spastic paraplegia; and late onset Parkinson's disease. Is expressed in nervous system; neural tube; and trigeminal placode. Orthologous to human UCHL1 (ubiquitin C-terminal hydrolase L1).
Genome Resources: Alliance (1),  Gene:325119 (1),  Ensembl(GRCz11):ENSDARG00000026871 (2)
GENE EXPRESSION
All Expression Data: 10 figures from 5 publications
Directly Submitted Expression Data: 5 figures (39 images) from Thisse et al., 2001 [cb358]
Wild-type Stages, Structures: Segmentation:14-19 somites (16.0h-19.0h) to Adult (90d-730d, breeding adult)
 
Curated Microarray Expression: GEO (1)
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
sa38261 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
    • zko428a Small Deletion Unknown Unknown CRISPR
  • China Zebrafish Resource Center (CZRC) (order this)
    • Sequence Targeting Reagents
    Targeting Reagent Created Alleles Publications
    CRISPR1-uchl1 1
    MO1-uchl1 N/A 1
    PHENOTYPE No data available
    DISEASE ASSOCIATED WITH uchl1 HUMAN ORTHOLOG
    Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
    Spastic paraplegia 79, autosomal recessive 615491
    {?Parkinson disease 5, susceptibility to} 613643
    DISEASE ASSOCIATED WITH uchl1 VIA EXPERIMENTAL MODELS No data available
    GENE ONTOLOGY
    Ontology GO Term
    Biological Process protein deubiquitination (more)
    Cellular Component cytoplasm (more)
    Molecular Function cysteine-type peptidase activity (more)
    GO Terms (all 10)
    PROTEIN FAMILIES, DOMAINS AND SITES
  • InterPro:IPR001578 (1)
  • InterPro:IPR030297 (1)
  • InterPro:IPR036959 (1)
  • InterPro:IPR038765 (1)
  • PROSITE:PS00140 (1)
  • Pfam:PF01088 (1)
  • EC:3.4.19.12 (1)
    • TRANSCRIPTS
    Type Name Length (nt) Analysis
    mRNA uchl1-201 (1)    Ensembl 1490
    Select Tool
    ncRNA uchl1-002 (1)    Ensembl 338
    Select Tool
    Browsers: UCSC,  NCBI,  Ensembl,  ZFIN
    INTERACTIONS AND PATHWAYS
    ANTIBODIES No data available
    PLASMIDS No data available
    CONSTRUCTS WITH SEQUENCES FROM uchl1 No data available
    MARKER RELATIONSHIPS
    uchl1 Contained in: [BAC] CH211-240P12 (1) (order this)
    [Fosmid] ZFOS-2069A7 (1)
    uchl1 Encodes: [EST] cb358 (1), fc55h08
    [cDNA] MGC:56535 (1) (order this)
    SEQUENCE INFORMATION
    Type Accession # Length (bp/aa) Analysis
    RNA RefSeq:NM_201477 (1) 1118 bp
    Select Tool
    Genomic GenBank:CR376846 (1) 145408 bp
    Select Tool
    Polypeptide UniProtKB:Q6YI49 (1) 218 aa
    Select Tool
    Sequence Clusters UniGene:8724 (1)
    Sequence Information (all 16)
    ORTHOLOGY for uchl1 ( Chr: 1 )
    CITATIONS (33)