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

Mammalian homology

human; rat; cattle; chimpanzee; dog, domestic    (Mammalian Orthology)
Comparative Map (Mouse/Human Uchl1 ± 2 cM)

Protein SuperFamily: ubiquitin thiolesterase
Gene Tree: Uchl1

Human ortholog

UCHL1 ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase) NCBI Gene ID 7345
Human Synonyms: PARK5, PGP95, PGP 9.5, PGP9.5, Uch-L1
Human Chr4:41258898-41270446 bp, + strand Reference GRCh37.p2 Primary Assembly
Human Diseases Associated with Human UCHL1 (1)

Alleles and phenotypes

All alleles(6) : Targeted(3) Spontaneous(3)
 

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.

 

Gene Ontology (GO) classifications

All GO classifications: (34 annotations)

Process	adult walking behavior, axonogenesis, ...
Component	axon, cytoplasm, ...
Function	alpha-2A adrenergic receptor binding, cysteine-type endopeptidase activity, ...

External Resources: FuncBase

Expression

Literature Summary: (138 records)
Data Summary: Results (487)    Tissues (271)    Images (109)
Theiler Stages: 9, 13, 15, 17, 19, 20, 22, 23, 25, 26, 28

Assay Type	Results
Immunohistochemistry	99
RNA in situ	291
In situ reporter (knock in)	56
RT-PCR	41

cDNA source data(12)
External Resources: Allen Institute   GENSAT   GEO   ArrayExpress

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.101185072, DT.536408, DT.91284313
NIA Mouse Gene Index	U005644
EC	3.4.19.12, 6.-.-.-
Consensus CDS Project	CCDS19315.1
International Mouse Knockout Project Status	Uchl1

Sequences

Length	Strain/Species
genomic	OTTMUSG00000042268	VEGA Gene Model | MGI Sequence Detail	11134	C57BL/6J
transcript	OTTMUST00000111175	VEGA | MGI Sequence Detail	1167	Not Applicable
polypeptide	OTTMUSP00000062165	VEGA | MGI Sequence Detail	223	Not Applicable

All sequences(38) RefSeq(2) UniProt(3)

Polymorphisms

SNPs(63 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:190179 Xing Y, et al., NOTCH1 is required for regeneration of Clara cells during repair of airway injury. Stem Cells. 2012 May;30(5):946-55
All references(212)

Other accession IDs

MGD-MRK-24015, MGD-MRK-9952, MGI:2141250, MGI:2141346, MGI:2141354, MGI:95631