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Uchl1
Gene Detail
Symbol

Name
ID
Uchl1
ubiquitin carboxy-terminal hydrolase L1
MGI:103149
Synonyms
PGP 9.5, PGP9.5
Feature Type
protein coding gene
Genetic Map
Chromosome 5
35.95 cM
Detailed Genetic Map ± 1 cM


Mapping data(7)
Sequence Map
Chr5:66676098-66687231 bp, + strand
From VEGA annotation of GRCm38

  11134 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:37894  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: UCHL1
Protein SuperFamily: ubiquitin thiolesterase
Gene Tree: Uchl1

Human
homologs
UCHL1, ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 7345
neXtProt AC: NX_P09936

Human Synonyms: HEL-117, NDGOA, PARK5, PGP95, PGP 9.5, PGP9.5, Uch-L1

Human Chr (Location): 4p14; chr4:41256881-41268429 (+)  GRCh38.p2

Disease Associations: (2) Diseases Associated with Human UCHL1

Mutations,
alleles, and
phenotypes
All mutations/alleles(9) : Radiation induced(1) Spontaneous(3) Targeted(4) Transgenic(1)
Genomic Mutations involving Uchl1 (1)
Incidental mutations (data from Mutagenetix , APF )
 
Mice homozygous for one allele show ataxia beginning at 80 days of age, followed by progressive tremors, impaired locomotion, atrophy of hind limb muscles, and death by 5-6 months. Mice homozygous for a second allele exhibit defects in motor coordination and decreases in thermal pain sensation.
 
Human Diseases Modeled in Mice Using Uchl1 (1)    Mutations Annotated to Human Diseases (2)    Phenotype Images(4)
Interactions
Uchl1 interacts with 55 markers (Mir17, Mir20a, Mir20b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (43 annotations)
Process adult walking behavior, axonogenesis, ...
Component axon, cell, ...
Function alpha-2A adrenergic receptor binding, cysteine-type endopeptidase activity, ...
External Resources: FuncBase
Expression
Literature Summary: (160 records)
Data Summary: Results (1047)    Tissues (324)    Images (285)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 657
RNA in situ 291
In situ reporter (knock in) 56
Western blot 2
RT-PCR 41
cDNA source data(12)
Other mouse links: Allen Institute   GENSAT   GEO   Expression Atlas
Other vertebrate links: Xenbase uchl1 ; ZFIN uchl1    NEW 
Molecular
reagents
All nucleic(16) cDNA(13) Primer pair(3)
Microarray probesets(3)
Other database
links
VEGA Gene Model OTTMUSG00000042268 (Evidence)
Ensembl Gene Model ENSMUSG00000029223 (Evidence)
Entrez Gene 22223 (Evidence)
DFCI TC1573461
DoTS DT.91284313, DT.536408, DT.101185072
NIA Mouse Gene Index U005644
EC 6.-.-.-, 3.4.19.12
Consensus CDS Project CCDS19315.1
International Mouse Phenotyping Consortium Status Uchl1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000042268 VEGA Gene Model | MGI Sequence Detail 11134 C57BL/6J ±  kb
transcript OTTMUST00000111175 VEGA | MGI Sequence Detail 1167 Not Applicable 
polypeptide OTTMUSP00000062165 VEGA | MGI Sequence Detail 223 Not Applicable 

For the selected sequences
All sequences(38) RefSeq(2) UniProt(3)
Polymorphisms
SNPs within 2kb(100 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR001578 Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1
Protein Ontology PR:000017024 ubiquitin carboxyl-terminal hydrolase isozyme L1
References
(Earliest) J:14916 Yamazaki K, et al., Location of gracile axonal dystrophy (gad) on Chromosome 5 of the mouse. Jpn J Genet. 1987;62:479-84
(Latest) J:222308 Fairfield H, et al., Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders. Genome Res. 2015 Jul;25(7):948-57
All references(240)
Disease annotation references (1)
Other
accession IDs
MGD-MRK-24015, MGD-MRK-9952, MGI:2141250, MGI:2141346, MGI:2141354, MGI:95631

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
07/21/2015
MGI 5.22
The Jackson Laboratory