UCHL1 (ubiquitin C-terminal hydrolase L1)

2004-04-01 Affiliation

Identity

HGNC

UCHL1

LOCATION

4p13

LOCUSID

7345

ALIAS

HEL-117,HEL-S-53,NDGOA,PARK5,PGP

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 7345
MIM: 191342
HGNC: 12513
Ensembl: ENSG00000154277

Variants:

dbSNP: 7345
ClinVar: 7345
TCGA: ENSG00000154277
COSMIC: UCHL1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000154277	ENST00000284440	P09936
ENSG00000154277	ENST00000284440	V9HW74
ENSG00000154277	ENST00000503431	P09936
ENSG00000154277	ENST00000503431	V9HW74
ENSG00000154277	ENST00000505232	D6R974
ENSG00000154277	ENST00000508768	D6RE83
ENSG00000154277	ENST00000512419	D6RJD9
ENSG00000154277	ENST00000512788	D6R956
ENSG00000154277	ENST00000514924	D6RF53

Expression (GTEx)

500

1000

1500

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Parkinson's disease	KEGG	hsa05012
Metabolism of proteins	REACTOME	R-HSA-392499
Post-translational protein modification	REACTOME	R-HSA-597592
Deubiquitination	REACTOME	R-HSA-5688426
UCH proteinases	REACTOME	R-HSA-5689603

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
12408865	2002	The UCH-L1 gene encodes two opposing enzymatic activities that affect alpha-synuclein degradation and Parkinson's disease susceptibility.	180
14722078	2004	Oxidative modifications and down-regulation of ubiquitin carboxyl-terminal hydrolase L1 associated with idiopathic Parkinson's and Alzheimer's diseases.	153
12160938	2002	Proteomic identification of oxidatively modified proteins in Alzheimer's disease brain. Part I: creatine kinase BB, glutamine synthase, and ubiquitin carboxy-terminal hydrolase L-1.	135
18550537	2008	Aberrant interaction between Parkinson disease-associated mutant UCH-L1 and the lysosomal receptor for chaperone-mediated autophagy.	75
21702960	2011	Neuronal and glial markers are differently associated with computed tomography findings and outcome in patients with severe traumatic brain injury: a case control study.	71
27018834	2016	Time Course and Diagnostic Accuracy of Glial and Neuronal Blood Biomarkers GFAP and UCH-L1 in a Large Cohort of Trauma Patients With and Without Mild Traumatic Brain Injury.	70
16537382	2006	Structural basis for conformational plasticity of the Parkinson's disease-associated ubiquitin hydrolase UCH-L1.	67
21309726	2011	Biokinetic analysis of ubiquitin C-terminal hydrolase-L1 (UCH-L1) in severe traumatic brain injury patient biofluids.	58
15048890	2004	UCHL1 is a Parkinson's disease susceptibility gene.	55
19261853	2009	Membrane-associated farnesylated UCH-L1 promotes alpha-synuclein neurotoxicity and is a therapeutic target for Parkinson's disease.	55

Citation

Dessen P

UCHL1 (ubiquitin C-terminal hydrolase L1)

Atlas Genet Cytogenet Oncol Haematol. 2004-04-01

Online version: http://atlasgeneticsoncology.org/gene/42761/uchl1-(ubiquitin-c-terminal-hydrolase-l1)