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

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 cysteine-type deubiquitinase activity; ribosome binding activity; 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 male germ cell proliferation. 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; hereditary spastic paraplegia 79A; and hereditary spastic paraplegia 79B. Orthologous to human UCHL1 (ubiquitin C-terminal hydrolase L1). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in CNS E18 (RPKM 511.8), whole brain E14.5 (RPKM 348.5) and 9 other tissues See more
Orthologs: human all
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Genomic context

Location:: 5 C3.1; 5 35.95 cM

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	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_000071.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Inhibition of Ubiquitin C-Terminal Hydrolase L1 Facilitates Cutaneous Wound Healing via Activating TGF-beta/Smad Signalling Pathway in Fibroblasts.
Title: Inhibition of Ubiquitin C-Terminal Hydrolase L1 Facilitates Cutaneous Wound Healing via Activating TGF-β/Smad Signalling Pathway in Fibroblasts.
Skeletal Muscle UCHL1 Negatively Regulates Muscle Development and Recovery after Muscle Injury.
Title: Skeletal Muscle UCHL1 Negatively Regulates Muscle Development and Recovery after Muscle Injury.
A novel proteomic signature of osteoclast differentiation unveils the deubiquitinase UCHL1 as a necessary osteoclastogenic driver.
Title: A novel proteomic signature of osteoclast differentiation unveils the deubiquitinase UCHL1 as a necessary osteoclastogenic driver.
Deubiquitinase UCHL1 promotes angiogenesis and blood-spinal cord barrier function recovery after spinal cord injury by stabilizing Sox17.
Title: Deubiquitinase UCHL1 promotes angiogenesis and blood-spinal cord barrier function recovery after spinal cord injury by stabilizing Sox17.
UCHL1 deficiency upon HCMV infection induces vascular endothelial inflammatory injury mediated by mitochondrial iron overload.
Title: UCHL1 deficiency upon HCMV infection induces vascular endothelial inflammatory injury mediated by mitochondrial iron overload.
UCHL1 Regulates Radiation Lung Injury via Sphingosine Kinase-1.
Title: UCHL1 Regulates Radiation Lung Injury via Sphingosine Kinase-1.
The deubiquitinase UCHL1 negatively controls osteoclastogenesis by regulating TAZ/NFATC1 signalling.
Title: The deubiquitinase UCHL1 negatively controls osteoclastogenesis by regulating TAZ/NFATC1 signalling.
Non-functional ubiquitin C-terminal hydrolase L1 drives podocyte injury through impairing proteasomes in autoimmune glomerulonephritis.
Title: Non-functional ubiquitin C-terminal hydrolase L1 drives podocyte injury through impairing proteasomes in autoimmune glomerulonephritis.
Role of UCHL1 in the pathogenesis of neurodegenerative diseases and brain injury.
Title: Role of UCHL1 in the pathogenesis of neurodegenerative diseases and brain injury.
UCHL1 Impairs Periodontal Ligament Stem Cell Osteogenesis in Periodontitis.
Title: UCHL1 Impairs Periodontal Ligament Stem Cell Osteogenesis in Periodontitis.

Submit: New GeneRIF Correction See all GeneRIFs (76)

Variation

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Alleles

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

Endonuclease-mediated (2)
Spontaneous (3) 1 citation
Targeted (6) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Uchl1 (e-PCR), detects polymorphism
- UniSTS:516647

RH125268 (e-PCR)
- UniSTS:162090

Uchl1 (e-PCR), detects polymorphism
- UniSTS:496002

Uchl1 (e-PCR), detects polymorphism
- UniSTS:507301

C88048 (e-PCR)
- UniSTS:207800

RH128109 (e-PCR)
- UniSTS:211417

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables alpha-2A adrenergic receptor binding	IEA Inferred from Electronic Annotation more info
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
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 endopeptidase activity	ISS Inferred from Sequence or Structural Similarity more info
enables omega peptidase activity	ISO Inferred from Sequence Orthology more info
enables omega peptidase activity	ISS Inferred from Sequence or Structural Similarity more info
enables ribosome binding	IDA Inferred from Direct Assay more info	PubMed
enables ubiquitin binding	IDA Inferred from Direct Assay more info	PubMed
enables ubiquitin binding	ISO Inferred from Sequence Orthology more info
enables ubiquitin binding	ISS Inferred from Sequence or Structural Similarity more info
enables ubiquitin protein ligase binding	IEA Inferred from Electronic Annotation 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 positive regulation of glycolytic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of glycolytic process	ISO Inferred from Sequence Orthology more info
involved_in protein catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein deubiquitination	ISO Inferred from Sequence Orthology more info
involved_in protein deubiquitination	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within response to ischemia	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ubiquitin-dependent protein catabolic process	IEA Inferred from Electronic Annotation 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
located_in axon cytoplasm	IEA Inferred from Electronic Annotation more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
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 membrane	IEA Inferred from Electronic Annotation more info
located_in myelin sheath	HDA more info	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	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
colocalizes_with plasma membrane	ISO Inferred from Sequence Orthology more info

General protein information

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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

EC 3.4.19.12

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)

NM_011670.2 → NP_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

Q3TCH2

Related

ENSMUSP00000031131.10, ENSMUST00000031131.11

Conserved Domains (1) summary

cd09616
Location:5 → 219

Peptidase_C12_UCH_L1_L3; Cysteine peptidase C12 containing ubiquitin carboxyl-terminal hydrolase (UCH) families L1 and L3