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Uchl1 ubiquitin carboxy-terminal hydrolase L1 [ Mus musculus (house mouse) ]

Gene ID: 22223, updated on 8-Jan-2023

Summary

Official Symbol
Uchl1provided by MGI
Official Full Name
ubiquitin carboxy-terminal hydrolase L1provided by MGI
Primary source
MGI:MGI:103149
See related
Ensembl:ENSMUSG00000029223 AllianceGenome:MGI:103149
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
gad; PGP9.5; UCH-L1; UCHL-1; PGP 9.5
Summary
Enables thiol-dependent deubiquitinase and ubiquitin binding activity. Involved in cellular response to xenobiotic stimulus. Acts upstream of or within several processes, including adult walking behavior; axon target recognition; and response to ischemia. Located in several cellular components, including axon; neuron projection terminus; and neuronal cell body. Is expressed in several structures, including alimentary system; cardiovascular system; genitourinary system; nervous system; and sensory organ. Human ortholog(s) of this gene implicated in Alzheimer's disease; Parkinson's disease; and hereditary spastic paraplegia. Orthologous to human UCHL1 (ubiquitin C-terminal hydrolase L1). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in CNS E18 (RPKM 511.8), whole brain E14.5 (RPKM 348.5) and 9 other tissues See more
Orthologs
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Genomic context

See Uchl1 in Genome Data Viewer
Location:
5 C3.1; 5 35.95 cM
Exon count:
9
Annotation release Status Assembly Chr Location
109 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (66833464..66844577)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (66676121..66687234)

Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene NOL1/NOP2/Sun domain family, member 7 Neighboring gene amyloid beta (A4) precursor protein-binding, family B, member 2 Neighboring gene predicted gene, 52775 Neighboring gene ubiquitin carboxy-terminal hydrolase L1, opposite strand Neighboring gene LIM and calponin homology domains 1 Neighboring gene predicted gene 6517 Neighboring gene eukaryotic translation elongation factor 1 gamma pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables alpha-2A adrenergic receptor binding ISO
Inferred from Sequence Orthology
more info
 
enables cysteine-type deubiquitinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables cysteine-type deubiquitinase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables cysteine-type deubiquitinase activity ISO
Inferred from Sequence Orthology
more info
 
enables cysteine-type endopeptidase activity ISO
Inferred from Sequence Orthology
more info
 
enables cysteine-type peptidase activity IEA
Inferred from Electronic Annotation
more info
 
enables hydrolase activity IEA
Inferred from Electronic Annotation
more info
 
enables ligase activity IEA
Inferred from Electronic Annotation
more info
 
enables omega peptidase activity ISO
Inferred from Sequence Orthology
more info
 
enables peptidase activity IEA
Inferred from Electronic Annotation
more info
 
enables ubiquitin binding IDA
Inferred from Direct Assay
more info
PubMed 
enables ubiquitin binding ISO
Inferred from Sequence Orthology
more info
 
enables ubiquitin protein ligase binding ISO
Inferred from Sequence Orthology
more info
 
Process Evidence Code Pubs
acts_upstream_of_or_within adult walking behavior IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within adult walking behavior IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within axon target recognition IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within axonal transport of mitochondrion IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within axonogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cellular response to xenobiotic stimulus IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within eating behavior IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within male germ cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within muscle cell development IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in negative regulation of MAP kinase activity ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within neuromuscular process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in protein deubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in protein deubiquitination ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within proteolysis IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within response to ischemia IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in sensory perception of pain ISO
Inferred from Sequence Orthology
more info
 
involved_in ubiquitin-dependent protein catabolic process ISO
Inferred from Sequence Orthology
more info
 
Component Evidence Code Pubs
located_in axon IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
 
located_in cytosol IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol ISO
Inferred from Sequence Orthology
more info
 
located_in endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 
located_in myelin sheath HDA PubMed 
located_in neuron projection terminus IDA
Inferred from Direct Assay
more info
PubMed 
located_in neuronal cell body IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleoplasm ISO
Inferred from Sequence Orthology
more info
 
colocalizes_with plasma membrane ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
ubiquitin carboxyl-terminal hydrolase isozyme L1
Names
gracile axonal dystrophy
neuron cytoplasmic protein 9.5
protein gene product 9.5
ubiquitin thioesterase L1
NP_035800.2

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_011670.2NP_035800.2  ubiquitin carboxyl-terminal hydrolase isozyme L1

    See identical proteins and their annotated locations for NP_035800.2

    Status: VALIDATED

    Source sequence(s)
    AF172334, AK013729, CX241178
    Consensus CDS
    CCDS19315.1
    UniProtKB/Swiss-Prot
    Q9R0P9, Q9R122
    UniProtKB/TrEMBL
    A0A6P5PKP0
    Related
    ENSMUSP00000031131.10, ENSMUST00000031131.11
    Conserved Domains (1) summary
    cd09616
    Location:5219
    Peptidase_C12_UCH_L1_L3; Cysteine peptidase C12 containing ubiquitin carboxyl-terminal hydrolase (UCH) families L1 and L3

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000071.7 Reference GRCm39 C57BL/6J

    Range
    66833464..66844577
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)