Details for: UCHL1

Gene ID: 7345

Symbol: UCHL1

Ensembl ID: ENSG00000154277

Description: ubiquitin C-terminal hydrolase L1

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 354.6878
    Cell Significance Index: -55.1700
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 212.0300
    Cell Significance Index: -53.7800
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 132.0192
    Cell Significance Index: -54.3900
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 44.7542
    Cell Significance Index: -55.1800
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 14.0596
    Cell Significance Index: -55.4800
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 5.9466
    Cell Significance Index: 312.2200
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 4.1998
    Cell Significance Index: 119.8500
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 3.1520
    Cell Significance Index: 193.7400
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 2.8079
    Cell Significance Index: 67.3400
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 2.6020
    Cell Significance Index: 521.9600
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 2.2342
    Cell Significance Index: 150.2300
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 1.9985
    Cell Significance Index: 43.7600
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.9726
    Cell Significance Index: 707.5400
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 1.7272
    Cell Significance Index: 60.0200
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 1.2775
    Cell Significance Index: 15.8500
  • Cell Name: germ cell (CL0000586)
    Fold Change: 1.2456
    Cell Significance Index: 9.4100
  • Cell Name: midget ganglion cell of retina (CL4023188)
    Fold Change: 1.0531
    Cell Significance Index: 10.9700
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.9907
    Cell Significance Index: 44.9100
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.6394
    Cell Significance Index: 28.2800
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.6275
    Cell Significance Index: 23.7600
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.5191
    Cell Significance Index: 16.6300
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.4735
    Cell Significance Index: 427.4900
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.4706
    Cell Significance Index: 10.2000
  • Cell Name: hippocampal interneuron (CL1001569)
    Fold Change: 0.4523
    Cell Significance Index: 5.8700
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.3726
    Cell Significance Index: 9.9900
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.3626
    Cell Significance Index: 35.8700
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.3428
    Cell Significance Index: 40.4300
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.2187
    Cell Significance Index: 160.3200
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: 0.1537
    Cell Significance Index: 12.1700
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: 0.1347
    Cell Significance Index: 1.6800
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.1305
    Cell Significance Index: 21.2300
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.1288
    Cell Significance Index: 17.6900
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.1078
    Cell Significance Index: 58.8600
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.0831
    Cell Significance Index: 1.7400
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.0420
    Cell Significance Index: 8.0000
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.0268
    Cell Significance Index: 0.4600
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.0251
    Cell Significance Index: 0.6600
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0159
    Cell Significance Index: 21.5900
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0061
    Cell Significance Index: -0.3400
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0108
    Cell Significance Index: -0.3800
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0136
    Cell Significance Index: -25.5600
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0154
    Cell Significance Index: -11.3800
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0174
    Cell Significance Index: -10.8400
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0293
    Cell Significance Index: -54.0200
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0331
    Cell Significance Index: -50.9900
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0333
    Cell Significance Index: -18.7700
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0513
    Cell Significance Index: -10.8100
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.0541
    Cell Significance Index: -1.5600
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0647
    Cell Significance Index: -41.0900
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.0658
    Cell Significance Index: -29.1000
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0674
    Cell Significance Index: -51.0000
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.0799
    Cell Significance Index: -9.1200
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: -0.1051
    Cell Significance Index: -11.4300
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.1170
    Cell Significance Index: -53.1200
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.1248
    Cell Significance Index: -3.1200
  • Cell Name: neuroblast (sensu Vertebrata) (CL0000031)
    Fold Change: -0.1476
    Cell Significance Index: -0.9600
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1556
    Cell Significance Index: -44.7700
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.1629
    Cell Significance Index: -27.8200
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.2078
    Cell Significance Index: -26.6400
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.2079
    Cell Significance Index: -41.2600
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.2312
    Cell Significance Index: -41.6800
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.2314
    Cell Significance Index: -14.1900
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.2655
    Cell Significance Index: -5.2500
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.2776
    Cell Significance Index: -28.3600
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: -0.2847
    Cell Significance Index: -2.3500
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: -0.3322
    Cell Significance Index: -22.9700
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.3471
    Cell Significance Index: -50.4600
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.3491
    Cell Significance Index: -42.9300
  • Cell Name: L6 intratelencephalic projecting glutamatergic neuron of the primary motor cortex (CL4023050)
    Fold Change: -0.3756
    Cell Significance Index: -5.0100
  • Cell Name: ON midget ganglion cell (CL4033046)
    Fold Change: -0.3779
    Cell Significance Index: -4.7700
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.3879
    Cell Significance Index: -50.1100
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.3882
    Cell Significance Index: -44.4800
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.4349
    Cell Significance Index: -50.6800
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.4497
    Cell Significance Index: -11.5600
  • Cell Name: keratocyte (CL0002363)
    Fold Change: -0.4519
    Cell Significance Index: -7.1700
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.4893
    Cell Significance Index: -16.0200
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.5013
    Cell Significance Index: -10.6400
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.5036
    Cell Significance Index: -16.0400
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.5478
    Cell Significance Index: -57.0400
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.5612
    Cell Significance Index: -16.5300
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: -0.5695
    Cell Significance Index: -34.1900
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.6444
    Cell Significance Index: -40.6200
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: -0.6495
    Cell Significance Index: -6.1800
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.6695
    Cell Significance Index: -18.7100
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.6740
    Cell Significance Index: -50.2300
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.6764
    Cell Significance Index: -13.5800
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.6997
    Cell Significance Index: -11.7100
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.7758
    Cell Significance Index: -59.5300
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.7898
    Cell Significance Index: -41.1400
  • Cell Name: neural cell (CL0002319)
    Fold Change: -0.7912
    Cell Significance Index: -9.2300
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.7953
    Cell Significance Index: -51.3100
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.7984
    Cell Significance Index: -17.2500
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: -0.9638
    Cell Significance Index: -10.5000
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.9647
    Cell Significance Index: -33.8000
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -1.0046
    Cell Significance Index: -47.2200
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -1.0605
    Cell Significance Index: -55.0900
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -1.0789
    Cell Significance Index: -22.3800
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -1.0996
    Cell Significance Index: -27.4300
  • Cell Name: glioblast (CL0000030)
    Fold Change: -1.1227
    Cell Significance Index: -7.0500
  • Cell Name: neuron (CL0000540)
    Fold Change: -1.1298
    Cell Significance Index: -10.7100

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Deubiquitinating enzyme**: UCHL1 is a cysteine-type deubiquitinase, which means it removes ubiquitin protein tags from target proteins, thereby regulating their stability, localization, and function. 2. **Ubiquitin C-terminal hydrolase**: UCHL1 is a member of the ubiquitin C-terminal hydrolase family, which is characterized by its ability to remove ubiquitin protein tags from target proteins. 3. **Significantly expressed in neurons and glial cells**: UCHL1 is highly expressed in various cell types, including neurons, glial cells, and embryonic stem cells, suggesting its critical role in neuronal development and function. 4. **Implicated in neurodegenerative disorders**: UCHL1 has been implicated in several neurodegenerative disorders, including Alzheimer's disease, Parkinson's disease, and amyotrophic lateral sclerosis (ALS). **Pathways and Functions:** 1. **Protein degradation**: UCHL1 regulates protein degradation by removing ubiquitin protein tags from target proteins, thereby controlling their stability and localization. 2. **Cellular homeostasis**: UCHL1 plays a critical role in maintaining cellular homeostasis by regulating protein degradation and preventing the accumulation of toxic proteins. 3. **Neurotransmitter regulation**: UCHL1 has been implicated in the regulation of neurotransmitter synthesis and release, suggesting its role in neuronal function and development. 4. **Axonal transport**: UCHL1 has been shown to regulate axonal transport of mitochondria, which is essential for maintaining neuronal function and survival. **Clinical Significance:** 1. **Neurodegenerative disorders**: UCHL1 has been implicated in several neurodegenerative disorders, including Alzheimer's disease, Parkinson's disease, and ALS. 2. **Neurodevelopmental disorders**: UCHL1 has been implicated in neurodevelopmental disorders, including autism spectrum disorder and schizophrenia. 3. **Cancer**: UCHL1 has been shown to be overexpressed in certain types of cancer, suggesting its role in tumorigenesis and cancer progression. 4. **Neuroprotection**: UCHL1 has been shown to have neuroprotective effects, suggesting its potential as a therapeutic target for neurodegenerative disorders. In conclusion, the UCHL1 gene plays a critical role in regulating protein degradation and cellular homeostasis, and its dysregulation has been implicated in several neurodegenerative and developmental disorders. Further research is needed to fully understand the mechanisms by which UCHL1 regulates protein degradation and its role in maintaining cellular homeostasis.

Genular Protein ID: 3966029490

Symbol: UCHL1_HUMAN

Name: Ubiquitin carboxyl-terminal hydrolase isozyme L1

UniProtKB Accession Codes:

P09936 Q4W5K6 Q71UM0

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BMRB 1 BRENDA 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CORUM 1 CPTAC 2 CTD 1 ChEMBL 1 ChiTaRS 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 1 EC 1 EMBL 8 Ensembl 2 EvolutionaryTrace 1 ExpressionAtlas 1 GO 27 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 3 KEGG 1 MANE-Select 1 MEROPS 1 MIM 7 MINT 1 MalaCards 1 MassIVE 1 MetOSite 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 13 PDBsum 13 PIR 1 PRINTS 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 1 RefSeq 1 SABIO-RK 1 SASBDB 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TopDownProteomics 1 TreeFam 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 2163617

Title: The structure of the human gene encoding protein gene product 9.5 (PGP9.5), a neuron-specific ubiquitin C-terminal hydrolase.

PubMed ID: 2163617

DOI: 10.1042/bj2680521

PubMed ID: 14722078

Title: Oxidative modifications and down-regulation of ubiquitin carboxyl-terminal hydrolase L1 associated with idiopathic Parkinson's and Alzheimer's diseases.

PubMed ID: 14722078

DOI: 10.1074/jbc.m314124200

PubMed ID: 2947814

Title: Molecular cloning of cDNA coding for human PGP 9.5 protein. A novel cytoplasmic marker for neurones and neuroendocrine cells.

PubMed ID: 2947814

DOI: 10.1016/0014-5793(87)81327-3

PubMed ID: 9774100

Title: The ubiquitin pathway in Parkinson's disease.

PubMed ID: 9774100

DOI: 10.1038/26652

PubMed ID: 1849484

Title: Neuronal protein gene product 9.5 (IEF SSP 6104) is expressed in cultured human MRC-5 fibroblasts of normal origin and is strongly down-regulated in their SV40 transformed counterparts.

PubMed ID: 1849484

DOI: 10.1016/0014-5793(91)80300-r

PubMed ID: 1286667

Title: Microsequences of 145 proteins recorded in the two-dimensional gel protein database of normal human epidermal keratinocytes.

PubMed ID: 1286667

DOI: 10.1002/elps.11501301199

PubMed ID: 8639624

Title: Substrate binding and catalysis by ubiquitin C-terminal hydrolases: identification of two active site residues.

PubMed ID: 8639624

DOI: 10.1021/bi960099f

PubMed ID: 9790970

Title: Cleavage of the C-terminus of NEDD8 by UCH-L3.

PubMed ID: 9790970

DOI: 10.1006/bbrc.1998.9532

PubMed ID: 12408865

Title: The UCH-L1 gene encodes two opposing enzymatic activities that affect alpha-synuclein degradation and Parkinson's disease susceptibility.

PubMed ID: 12408865

DOI: 10.1016/s0092-8674(02)01012-7

PubMed ID: 12082530

Title: Interaction and colocalization of PGP9.5 with JAB1 and p27(Kip1).

PubMed ID: 12082530

DOI: 10.1038/sj.onc.1205390

PubMed ID: 16475834

Title: Mechanistic studies of ubiquitin C-terminal hydrolase L1.

PubMed ID: 16475834

DOI: 10.1021/bi052135t

PubMed ID: 19261853

Title: Membrane-associated farnesylated UCH-L1 promotes alpha-synuclein neurotoxicity and is a therapeutic target for Parkinson's disease.

PubMed ID: 19261853

DOI: 10.1073/pnas.0806474106

PubMed ID: 19608861

Title: Lysine acetylation targets protein complexes and co-regulates major cellular functions.

PubMed ID: 19608861

DOI: 10.1126/science.1175371

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 22212137

Title: Control of BACE1 degradation and APP processing by ubiquitin carboxyl-terminal hydrolase L1.

PubMed ID: 22212137

DOI: 10.1111/j.1471-4159.2011.07644.x

PubMed ID: 23359680

Title: Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 leads to early-onset progressive neurodegeneration.

PubMed ID: 23359680

DOI: 10.1073/pnas.1222732110

PubMed ID: 25615526

Title: UCHL1 provides diagnostic and antimetastatic strategies due to its deubiquitinating effect on HIF-1alpha.

PubMed ID: 25615526

DOI: 10.1038/ncomms7153

PubMed ID: 16537382

Title: Structural basis for conformational plasticity of the Parkinson's disease-associated ubiquitin hydrolase UCH-L1.

PubMed ID: 16537382

DOI: 10.1073/pnas.0510403103

PubMed ID: 20439756

Title: Ubiquitin vinyl methyl ester binding orients the misaligned active site of the ubiquitin hydrolase UCHL1 into productive conformation.

PubMed ID: 20439756

DOI: 10.1073/pnas.0910870107

PubMed ID: 12705903

Title: Alterations of structure and hydrolase activity of parkinsonism-associated human ubiquitin carboxyl-terminal hydrolase L1 variants.

PubMed ID: 12705903

DOI: 10.1016/s0006-291x(03)00555-2

PubMed ID: 10454131

Title: The Ile93Met mutation in the ubiquitin carboxy-terminal-hydrolase-L1 gene is not observed in European cases with familial Parkinson's disease.

PubMed ID: 10454131

DOI: 10.1016/s0304-3940(99)00465-6

PubMed ID: 10203348

Title: Low frequency of pathogenic mutations in the ubiquitin carboxy-terminal hydrolase gene in familial Parkinson's disease.

PubMed ID: 10203348

DOI: 10.1097/00001756-199902050-00040

PubMed ID: 11027850

Title: The ubiquitin carboxy-terminal hydrolase-L1 gene S18Y polymorphism does not confer protection against idiopathic Parkinson's disease.

PubMed ID: 11027850

DOI: 10.1016/s0304-3940(00)01510-x

PubMed ID: 15048890

Title: UCHL1 is a Parkinson's disease susceptibility gene.

PubMed ID: 15048890

DOI: 10.1002/ana.20017

PubMed ID: 16450370

Title: UCHL-1 is not a Parkinson's disease susceptibility gene.

PubMed ID: 16450370

DOI: 10.1002/ana.20757

PubMed ID: 18411255

Title: The S18Y polymorphic variant of UCH-L1 confers an antioxidant function to neuronal cells.

PubMed ID: 18411255

DOI: 10.1093/hmg/ddn115

PubMed ID: 21268678

Title: Ubiquitin carboxyl-terminal esterase L1 (UCHL1) S18Y polymorphism in patients with cataracts.

PubMed ID: 21268678

DOI: 10.3109/13816810.2010.544360

PubMed ID: 28007905

Title: Novel UCHL1 mutations reveal new insights into ubiquitin processing.

PubMed ID: 28007905

DOI: 10.1093/hmg/ddw391

PubMed ID: 35986737

Title: Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.

PubMed ID: 35986737

DOI: 10.1016/j.gim.2022.07.006

Sequence Information:

  • Length: 223
  • Mass: 24824
  • Checksum: C9E972AC4DA5DA8A
  • Sequence:
    • MQLKPMEINP EMLNKVLSRL GVAGQWRFVD VLGLEEESLG SVPAPACALL LLFPLTAQHE 
NFRKKQIEEL KGQEVSPKVY FMKQTIGNSC GTIGLIHAVA NNQDKLGFED GSVLKQFLSE 
TEKMSPEDRA KCFEKNEAIQ AAHDAVAQEG QCRVDDKVNF HFILFNNVDG HLYELDGRMP 
FPVNHGASSE DTLLKDAAKV CREFTEREQG EVRFSAVALC KAA

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.