• Gene id: 7345

Gene Summary

• Gene Symbol: UCHL1   Gene   UCSC   Ensembl
• Aliases: HEL-117, HEL-S-53, NDGOA, PARK5, PGP 9.5, PGP9.5, PGP95, SPG79, Uch-L1
• Gene name: ubiquitin C-terminal hydrolase L1
• Alternate names: ubiquitin carboxyl-terminal hydrolase isozyme L1, epididymis luminal protein 117, epididymis secretory protein Li 53, neuron cytoplasmic protein 9.5, ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase), ubiquitin thioesterase L1, ubiquitin thiole,
• Gene location: 4p13 (41256927: 41268454)     Exons: 9     NC_000004.12
• Gene summary(Entrez): The protein encoded by this gene belongs to the peptidase C12 family. This enzyme is a thiol protease that hydrolyzes a peptide bond at the C-terminal glycine of ubiquitin. This gene is specifically expressed in the neurons and in cells of the diffuse neu
• OMIM: 191342

Protein Summary

• Protein general information: P09936  
  • Name: Ubiquitin carboxyl terminal hydrolase isozyme L1 (UCH L1) (EC 3.4.19.12) (Neuron cytoplasmic protein 9.5) (PGP 9.5) (PGP9.5) (Ubiquitin thioesterase L1)
  • Length: 223  
  • Mass: 24824
  • Tissue specificity: Found in neuronal cell bodies and processes throughout the neocortex (at protein level). Expressed in neurons and cells of the diffuse neuroendocrine system and their tumors. Weakly expressed in ovary. Down-regulated in brains from Par
• Sequence:

  MQLKPMEINPEMLNKVLSRLGVAGQWRFVDVLGLEEESLGSVPAPACALLLLFPLTAQHENFRKKQIEELKGQEV
  SPKVYFMKQTIGNSCGTIGLIHAVANNQDKLGFEDGSVLKQFLSETEKMSPEDRAKCFEKNEAIQAAHDAVAQEG
  QCRVDDKVNFHFILFNNVDGHLYELDGRMPFPVNHGASSEDTLLKDAAKVCREFTEREQGEVRFSAVALCKAA

• Structural information:
  • Interpro: IPR038765  IPR001578  IPR036959  IPR030297  
  • Prosite: PS00140
  • PDB: 2ETL 2LEN 3IFW 3IRT 3KVF 3KW5 4DM9 4JKJ
  • PDBsum: 2ETL 2LEN 3IFW 3IRT 3KVF 3KW5 4DM9 4JKJ
  • DIP: 36620
  • STRING: ENSP00000284440
• Other Databases: GeneCards:  UCHL1  Malacards:  UCHL1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0031625	ubiquitin protein ligase binding	IPI	molecular function
GO:0016241	regulation of macroautophagy	TAS	biological process
GO:0043161	proteasome-mediated ubiquitin-dependent protein catabolic process	NAS	biological process
GO:0004843	thiol-dependent ubiquitin-specific protease activity	IBA	molecular function
GO:0016579	protein deubiquitination	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0004843	thiol-dependent ubiquitin-specific protease activity	IEA	molecular function
GO:0006511	ubiquitin-dependent protein catabolic process	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0016579	protein deubiquitination	IEA	biological process
GO:0016874	ligase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0008233	peptidase activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0008234	cysteine-type peptidase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0036459	thiol-dependent ubiquitinyl hydrolase activity	IEA	molecular function
GO:0016579	protein deubiquitination	TAS	biological process
GO:0036459	thiol-dependent ubiquitinyl hydrolase activity	TAS	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0048747	muscle fiber development	IEA	biological process
GO:0044306	neuron projection terminus	IEA	cellular component
GO:0043130	ubiquitin binding	IEA	molecular function
GO:0043025	neuronal cell body	IEA	cellular component
GO:0019896	axonal transport of mitochondrion	IEA	biological process
GO:0008283	cell population proliferation	IEA	biological process
GO:0007628	adult walking behavior	IEA	biological process
GO:0007412	axon target recognition	IEA	biological process
GO:0007409	axonogenesis	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0019233	sensory perception of pain	IEA	biological process
GO:0050905	neuromuscular process	IEA	biological process
GO:0042755	eating behavior	IEA	biological process
GO:0035690	cellular response to drug	IEA	biological process
GO:0030424	axon	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0004843	thiol-dependent ubiquitin-specific protease activity	IEA	molecular function
GO:0002931	response to ischemia	IEA	biological process
GO:0006511	ubiquitin-dependent protein catabolic process	IEA	biological process
GO:0031694	alpha-2A adrenergic receptor binding	IPI	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0005886	plasma membrane	IDA	colocalizes with
GO:0043407	negative regulation of MAP kinase activity	IDA	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:1904115	axon cytoplasm	IEA	cellular component
GO:0008242	omega peptidase activity	IDA	molecular function
GO:0016579	protein deubiquitination	IDA	biological process
GO:0004843	thiol-dependent ubiquitin-specific protease activity	IDA	molecular function
GO:0043130	ubiquitin binding	IDA	molecular function
GO:0004197	cysteine-type endopeptidase activity	IDA	molecular function
GO:0005737	cytoplasm	TAS	cellular component
GO:0005737	cytoplasm	ISS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05012	Parkinson disease

Diseases

Associated diseases	References
Multiple system atrophy	GAD: 16007636
Spastic paraplegia	OMIM: 191342
Huntington's disease	GAD: 12123845
Parkinson disease	KEGG: H00057
Alzheimer's disease	GAD: 16698101
Pelvic pain with endometriosis	INFBASE: 20646535
Polycystic ovary syndrome (PCOS)	INFBASE: 22344199
Testicular developmental defects	MIK: 26405262
Klinefelter syndrome	MIK: 26405262
Hereditary spastic paraplegia	KEGG:H00266
Parkinson disease	KEGG:H00057
Hereditary spastic paraplegia	KEGG:H00266
Parkinson disease	KEGG:H00057
Alzheimer's disease	PMID:14722078
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881