Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 7345
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

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 thioles,
Gene location 4p13 (41256880: 41268428)     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 neuroendocrine system. Mutations in this gene may be associated with Parkinson disease.[provided by RefSeq, Sep 2009]
OMIM 191342

Protein Summary
Protein general information P09936  

Name: Ubiquitin carboxyl terminal hydrolase isozyme L1 (UCH L1) (EC 3.4.19.12) (EC 6. . . ) (Neuron cytoplasmic protein 9.5) (PGP 9.5) (PGP9.5) (Ubiquitin thioesterase L1)

Length: 223  Mass: 24,824

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:  IPR001578 IPR030297
Prosite:   PS00140

Pfam:  		 PF01088

PDB:  		 2ETL 2LEN 3IFW 3IRT 3KVF 3KW5 4DM9 4JKJ
PDBsum:   2ETL 2LEN 3IFW 3IRT 3KVF 3KW5 4DM9 4JKJ

DIP:  		 36620
MINT:   1378022
STRING:   ENSP00000284440;
Other Databases GeneCards:  UCHL1;  Malacards:  UCHL1

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0002931 response to ischemia
 IEA biological_process
GO:0004197 cysteine-type endopeptida
se activity
 IDA molecular_function
GO:0004843 thiol-dependent ubiquitin
-specific protease activi
ty
 IBA molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005654 nucleoplasm
 IDA cellular_component
GO:0005737 cytoplasm
 ISS cellular_component
GO:0005737 cytoplasm
 IDA cellular_component
GO:0005737 cytoplasm
 TAS cellular_component
GO:0005737 cytoplasm
 IDA cellular_component
GO:0005789 endoplasmic reticulum mem
brane
 IEA cellular_component
GO:0005829 cytosol
 IEA cellular_component
GO:0007412 axon target recognition
 IEA biological_process
GO:0007628 adult walking behavior
 IEA biological_process
GO:0008242 omega peptidase activity
 IDA molecular_function
GO:0008283 cell proliferation
 IEA biological_process
GO:0016241 regulation of macroautoph
agy
 TAS biological_process
GO:0016579 protein deubiquitination
 IDA biological_process
GO:0016874 ligase activity
 IEA molecular_function
GO:0019233 sensory perception of pai
n
 IEA biological_process
GO:0019896 axonal transport of mitoc
hondrion
 IEA biological_process
GO:0031625 ubiquitin protein ligase
binding
 IPI molecular_function
GO:0031694 alpha-2A adrenergic recep
tor binding
 IPI molecular_function
GO:0042755 eating behavior
 IEA biological_process
GO:0043025 neuronal cell body
 IEA cellular_component
GO:0043130 ubiquitin binding
 IDA molecular_function
GO:0043161 proteasome-mediated ubiqu
itin-dependent protein ca
tabolic process
 NAS biological_process
GO:0043209 myelin sheath
 IEA cellular_component
GO:0043407 negative regulation of MA
P kinase activity
 IDA biological_process
GO:0044306 neuron projection terminu
s
 IEA cellular_component
GO:0048747 muscle fiber development
 IEA biological_process
GO:0050905 neuromuscular process
 IEA biological_process
GO:0070062 extracellular exosome
 IDA cellular_component
GO:1904115 axon cytoplasm
 IEA cellular_component
GO:0005886 plasma membrane
 IDA cellular_component
GO:0002931 response to ischemia
 IEA biological_process
GO:0004197 cysteine-type endopeptida
se activity
 IDA molecular_function
GO:0004843 thiol-dependent ubiquitin
-specific protease activi
ty
 IEA molecular_function
GO:0004843 thiol-dependent ubiquitin
-specific protease activi
ty
 IEA molecular_function
GO:0004843 thiol-dependent ubiquitin
-specific protease activi
ty
 IBA molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005622 intracellular
 IEA cellular_component
GO:0005654 nucleoplasm
 IDA cellular_component
GO:0005737 cytoplasm
 IEA cellular_component
GO:0005737 cytoplasm
 ISS cellular_component
GO:0005737 cytoplasm
 IEA cellular_component
GO:0005737 cytoplasm
 IEA cellular_component
GO:0005737 cytoplasm
 IDA cellular_component
GO:0005737 cytoplasm
 TAS cellular_component
GO:0005737 cytoplasm
 IDA cellular_component
GO:0005783 endoplasmic reticulum
 IEA cellular_component
GO:0005789 endoplasmic reticulum mem
brane
 IEA cellular_component
GO:0005829 cytosol
 IEA cellular_component
GO:0006508 proteolysis
 IEA biological_process
GO:0006511 ubiquitin-dependent prote
in catabolic process
 IEA biological_process
GO:0006511 ubiquitin-dependent prote
in catabolic process
 IEA biological_process
GO:0007409 axonogenesis
 IEA biological_process
GO:0007412 axon target recognition
 IEA biological_process
GO:0007628 adult walking behavior
 IEA biological_process
GO:0008233 peptidase activity
 IEA molecular_function
GO:0008234 cysteine-type peptidase a
ctivity
 IEA molecular_function
GO:0008242 omega peptidase activity
 IDA molecular_function
GO:0008283 cell proliferation
 IEA biological_process
GO:0016020 membrane
 IEA cellular_component
GO:0016241 regulation of macroautoph
agy
 TAS biological_process
GO:0016579 protein deubiquitination
 IEA biological_process
GO:0016579 protein deubiquitination
 IDA biological_process
GO:0016787 hydrolase activity
 IEA molecular_function
GO:0016787 hydrolase activity
 IEA molecular_function
GO:0016874 ligase activity
 IEA molecular_function
GO:0016874 ligase activity
 IEA molecular_function
GO:0019233 sensory perception of pai
n
 IEA biological_process
GO:0019896 axonal transport of mitoc
hondrion
 IEA biological_process
GO:0030424 axon
 IEA cellular_component
GO:0031625 ubiquitin protein ligase
binding
 IPI molecular_function
GO:0031694 alpha-2A adrenergic recep
tor binding
 IPI molecular_function
GO:0036459 thiol-dependent ubiquitin
yl hydrolase activity
 IEA molecular_function
GO:0042755 eating behavior
 IEA biological_process
GO:0043025 neuronal cell body
 IEA cellular_component
GO:0043130 ubiquitin binding
 IEA molecular_function
GO:0043130 ubiquitin binding
 IDA molecular_function
GO:0043161 proteasome-mediated ubiqu
itin-dependent protein ca
tabolic process
 NAS biological_process
GO:0043209 myelin sheath
 IEA cellular_component
GO:0043407 negative regulation of MA
P kinase activity
 IDA biological_process
GO:0044306 neuron projection terminu
s
 IEA cellular_component
GO:0048747 muscle fiber development
 IEA biological_process
GO:0050905 neuromuscular process
 IEA biological_process
GO:0070062 extracellular exosome
 IDA cellular_component
GO:1904115 axon cytoplasm
 IEA cellular_component
GO:0005886 plasma membrane
 IDA cellular_component
GO:0004197 cysteine-type endopeptida
se activity
 IDA molecular_function
GO:0004843 thiol-dependent ubiquitin
-specific protease activi
ty
 IBA molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005654 nucleoplasm
 IDA cellular_component
GO:0005737 cytoplasm
 ISS cellular_component
GO:0005737 cytoplasm
 IDA cellular_component
GO:0005737 cytoplasm
 TAS cellular_component
GO:0005737 cytoplasm
 IDA cellular_component
GO:0008242 omega peptidase activity
 IDA molecular_function
GO:0016241 regulation of macroautoph
agy
 TAS biological_process
GO:0016579 protein deubiquitination
 IDA biological_process
GO:0031625 ubiquitin protein ligase
binding
 IPI molecular_function
GO:0031694 alpha-2A adrenergic recep
tor binding
 IPI molecular_function
GO:0043130 ubiquitin binding
 IDA molecular_function
GO:0043161 proteasome-mediated ubiqu
itin-dependent protein ca
tabolic process
 NAS biological_process
GO:0043407 negative regulation of MA
P kinase activity
 IDA biological_process
GO:0070062 extracellular exosome
 IDA cellular_component
GO:0005886 plasma membrane
 IDA cellular_component

KEGG pathways

hsa05012  Parkinson's disease

Diseases

Associated diseases References
Alzheimer's disease PMID: 16626667
Endometriosis PMID: 20646535
Huntington's disease PMID: 12123845
Klinefelter syndrome PMID: 26405262
Endometriosis INFBASE20646535
Multiple system atrophy PMID: 16007636
Parkinson's disease KEGG: H00057, OMIM: 191342
Pelvic pain PMID: 20646535
Polycystic ovary syndrome (PCOS) PMID: 22344199
Spastic paraplegia OMIM: 191342
Testicular anomalies PMID: 26405262

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
20646535 Endometrio
sis
52 (32 patients
with endometri
osis (16 cases
with pain, 16 c
ases without pa
in), 20 periton
eal tissues fro
m patients with
uterine leiomy
oma without end
ometriosis)
 PGP9.5
 Show abstract