UCHL1 (ubiquitin C-terminal hydrolase L1) - Rat Genome Database

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Gene: UCHL1 (ubiquitin C-terminal hydrolase L1) Homo sapiens
Analyze
Symbol: UCHL1
Name: ubiquitin C-terminal hydrolase L1
RGD ID: 733510
HGNC Page HGNC
Description: Exhibits several functions, including alpha-2A adrenergic receptor binding activity; peptidase activity; and ubiquitin protein ligase binding activity. Involved in negative regulation of MAP kinase activity and protein deubiquitination. Localizes to cytosol and nucleoplasm. Colocalizes with plasma membrane. Implicated in Alzheimer's disease; Parkinson's disease; and hereditary spastic paraplegia.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: epididymis luminal protein 117; epididymis secretory protein Li 53; HEL-117; HEL-S-53; NDGOA; neuron cytoplasmic protein 9.5; PARK5; PGP 9.5; PGP9.5; PGP95; SPG79; ubiquitin C-terminal hydrolase; ubiquitin carboxy-terminal hydrolase l1; ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase); ubiquitin carboxyl-terminal hydrolase isozyme L1; ubiquitin thioesterase L1; ubiquitin thiolesterase; Uch-L1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: AP002512.1   AP002512.2  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl441,256,413 - 41,268,455 (+)EnsemblGRCh38hg38GRCh38
GRCh38441,256,928 - 41,268,455 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37441,258,945 - 41,270,472 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36440,953,686 - 40,965,203 (+)NCBINCBI36hg18NCBI36
Build 34441,099,856 - 41,111,373NCBI
Celera441,702,199 - 41,713,746 (+)NCBI
Cytogenetic Map4p13NCBI
HuRef440,580,844 - 40,592,391 (+)NCBIHuRef
CHM1_1441,259,044 - 41,270,591 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(S)-nicotine  (ISO)
1,2-dimethylhydrazine  (ISO)
1,2-naphthoquinone  (EXP)
1,3-dinitrobenzene  (ISO)
1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
4-hydroxynon-2-enal  (ISO)
4-methylcatechol  (ISO)
4-phenylbutyric acid  (ISO)
5-aza-2'-deoxycytidine  (EXP)
5-fluorouracil  (EXP)
6-propyl-2-thiouracil  (ISO)
acrylamide  (EXP)
actinomycin D  (ISO)
aflatoxin B1  (EXP)
aflatoxin M1  (EXP)
all-trans-retinoic acid  (ISO)
all-trans-retinol  (ISO)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
bisphenol A  (ISO)
buta-1,3-diene  (ISO)
cadmium dichloride  (EXP,ISO)
caffeine  (ISO)
carbon nanotube  (ISO)
cefaloridine  (ISO)
chloropicrin  (EXP)
chloroprene  (ISO)
choline  (ISO)
cobalt atom  (EXP)
cocaine  (EXP)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
copper(II) chloride  (ISO)
copper(II) sulfate  (EXP)
crocidolite asbestos  (ISO)
CU-O LINKAGE  (EXP)
cycloheximide  (ISO)
cyclosporin A  (EXP)
daidzein  (EXP)
dexamethasone  (EXP)
diallyl trisulfide  (EXP)
diarsenic trioxide  (EXP)
diazinon  (ISO)
dioxygen  (EXP)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
endosulfan  (ISO)
enzyme inhibitor  (EXP)
ethanol  (ISO)
fenvalerate  (ISO)
flavonoids  (ISO)
folic acid  (ISO)
furan  (ISO)
genistein  (EXP,ISO)
glutathione  (EXP)
glycitein  (EXP)
hydrogen peroxide  (EXP)
isoprenaline  (ISO)
kainic acid  (ISO)
L-methionine  (ISO)
maneb  (ISO)
manganese atom  (ISO)
manganese(0)  (ISO)
manganese(II) chloride  (ISO)
mercury dibromide  (EXP)
methamphetamine  (ISO)
methylmercury chloride  (EXP,ISO)
mevinphos  (ISO)
mitomycin C  (EXP)
mitoxantrone  (EXP)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (ISO)
N-methyl-N'-nitro-N-nitrosoguanidine  (EXP)
naphthalene  (ISO)
nickel dichloride  (ISO)
nicotine  (ISO)
nitrofen  (ISO)
oxidopamine  (ISO)
ozone  (ISO)
p-chloromercuribenzoic acid  (EXP)
paclitaxel  (ISO)
paracetamol  (EXP,ISO)
paraquat  (ISO)
phenethyl isothiocyanate  (EXP)
phenylephrine  (ISO)
phenylmercury acetate  (EXP)
pinosylvin  (EXP)
pirinixic acid  (EXP,ISO)
progesterone  (ISO)
pyrogallol  (ISO)
quercetin 3-O-beta-D-glucofuranoside  (ISO)
quercetin 3-O-beta-D-glucopyranoside  (ISO)
resiniferatoxin  (ISO)
rotenone  (ISO)
rutin  (ISO)
sarin  (ISO)
SB 431542  (EXP)
silicon dioxide  (ISO)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenate  (EXP)
sodium arsenite  (EXP,ISO)
sodium chromate  (EXP)
sodium fluoride  (ISO)
streptozocin  (ISO)
sunitinib  (EXP)
T-2 toxin  (ISO)
theophylline  (ISO)
titanium dioxide  (ISO)
topotecan  (EXP)
trans-pinosylvin  (EXP)
trichostatin A  (EXP)
triptonide  (ISO)
Tungsten carbide  (EXP)
valproic acid  (EXP,ISO)
vincristine  (ISO)
vitamin E  (EXP)

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:1286667   PMID:1840236   PMID:1849484   PMID:2163617   PMID:2532544   PMID:2947814   PMID:6343558   PMID:8471161   PMID:8639624   PMID:8671330   PMID:9435142   PMID:9521656  
PMID:9790970   PMID:10048490   PMID:10203348   PMID:10454131   PMID:11027850   PMID:11502942   PMID:11535241   PMID:11603807   PMID:11716150   PMID:12032852   PMID:12082530   PMID:12123845  
PMID:12160938   PMID:12210873   PMID:12408865   PMID:12477932   PMID:12539205   PMID:12705903   PMID:12775255   PMID:12784265   PMID:12913066   PMID:14702039   PMID:15048890   PMID:15194490  
PMID:15214825   PMID:15221445   PMID:15228595   PMID:15342556   PMID:15489334   PMID:15716245   PMID:15882803   PMID:16007636   PMID:16027165   PMID:16049941   PMID:16130169   PMID:16169070  
PMID:16177983   PMID:16316632   PMID:16369839   PMID:16371654   PMID:16380264   PMID:16402389   PMID:16450370   PMID:16537382   PMID:16626667   PMID:16642472   PMID:16644676   PMID:16698101  
PMID:16888648   PMID:16941465   PMID:17108109   PMID:17144664   PMID:17200335   PMID:17287139   PMID:17599367   PMID:17676665   PMID:17690318   PMID:17925890   PMID:17929277   PMID:17994469  
PMID:18029348   PMID:18093156   PMID:18250096   PMID:18411255   PMID:18494032   PMID:18499164   PMID:18512240   PMID:18543214   PMID:18550537   PMID:18635949   PMID:18638528   PMID:18666234  
PMID:18820707   PMID:18841579   PMID:18949367   PMID:18950315   PMID:19017757   PMID:19035297   PMID:19141079   PMID:19224617   PMID:19261853   PMID:19329225   PMID:19343046   PMID:19477270  
PMID:19488775   PMID:19535597   PMID:19536331   PMID:19615732   PMID:19683447   PMID:19707515   PMID:19725078   PMID:19734545   PMID:19859801   PMID:19864305   PMID:19945429   PMID:19950834  
PMID:20029029   PMID:20051117   PMID:20104524   PMID:20147297   PMID:20160478   PMID:20231490   PMID:20301402   PMID:20302621   PMID:20302855   PMID:20381070   PMID:20395212   PMID:20439756  
PMID:20524204   PMID:20574456   PMID:20608941   PMID:20622874   PMID:20646535   PMID:20713032   PMID:20861575   PMID:20949132   PMID:20980462   PMID:21044950   PMID:21251915   PMID:21268678  
PMID:21309726   PMID:21315600   PMID:21319273   PMID:21345711   PMID:21426768   PMID:21428722   PMID:21504384   PMID:21565611   PMID:21626562   PMID:21693148   PMID:21702960   PMID:21706495  
PMID:21873635   PMID:21878121   PMID:21999842   PMID:22001920   PMID:22022780   PMID:22028813   PMID:22038515   PMID:22076440   PMID:22118674   PMID:22246902   PMID:22279545   PMID:22284438  
PMID:22503729   PMID:22626734   PMID:22641175   PMID:22660851   PMID:22688354   PMID:22726800   PMID:22839974   PMID:22849656   PMID:22883340   PMID:22920679   PMID:22931063   PMID:22932395  
PMID:22939629   PMID:23061666   PMID:23158209   PMID:23291960   PMID:23297343   PMID:23315218   PMID:23359680   PMID:23376485   PMID:23392373   PMID:23484054   PMID:23490535   PMID:23499448  
PMID:23543736   PMID:23555160   PMID:23603559   PMID:23664488   PMID:23686552   PMID:23717208   PMID:23801757   PMID:23820422   PMID:23959334   PMID:23996067   PMID:24080464   PMID:24086249  
PMID:24090154   PMID:24252804   PMID:24309322   PMID:24314660   PMID:24702261   PMID:24711643   PMID:24763515   PMID:24832624   PMID:24879150   PMID:24908181   PMID:24950120   PMID:24959670  
PMID:24980434   PMID:25225294   PMID:25354657   PMID:25370916   PMID:25403879   PMID:25466238   PMID:25578779   PMID:25596590   PMID:25615526   PMID:25638021   PMID:25640309   PMID:25665578  
PMID:25687137   PMID:25915537   PMID:25921289   PMID:25973863   PMID:26018507   PMID:26040028   PMID:26135781   PMID:26232084   PMID:26264933   PMID:26293643   PMID:26314856   PMID:26513019  
PMID:26547005   PMID:26550574   PMID:26702068   PMID:26722437   PMID:26810533   PMID:26823707   PMID:26881020   PMID:26899237   PMID:27018834   PMID:27066941   PMID:27215701   PMID:27319802  
PMID:27501351   PMID:27840994   PMID:27914685   PMID:28002735   PMID:28007905   PMID:28137758   PMID:28193576   PMID:28300150   PMID:28330616   PMID:28338014   PMID:28392346   PMID:28472177  
PMID:28526880   PMID:28636190   PMID:28651886   PMID:28667290   PMID:28935764   PMID:29126443   PMID:29128334   PMID:29128359   PMID:29150024   PMID:29307588   PMID:29339092   PMID:29359783  
PMID:29401475   PMID:29462615   PMID:29489474   PMID:29568061   PMID:29576527   PMID:29627846   PMID:29765063   PMID:29782494   PMID:29945509   PMID:30070096   PMID:30148172   PMID:30178296  
PMID:30253122   PMID:30359286   PMID:30689542   PMID:30890647   PMID:30923110   PMID:30948266   PMID:31042473   PMID:31046837   PMID:31051301   PMID:31091453   PMID:31132788   PMID:31199012  
PMID:31247189   PMID:31405213   PMID:31494268   PMID:31536960   PMID:31586073   PMID:31701227   PMID:31729096   PMID:31845438   PMID:31906456   PMID:31980649   PMID:32042339   PMID:32120844  
PMID:32486284   PMID:32529326   PMID:32560811   PMID:32756860   PMID:32814053   PMID:33028204  


Genomics

Comparative Map Data
UCHL1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl441,256,413 - 41,268,455 (+)EnsemblGRCh38hg38GRCh38
GRCh38441,256,928 - 41,268,455 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37441,258,945 - 41,270,472 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36440,953,686 - 40,965,203 (+)NCBINCBI36hg18NCBI36
Build 34441,099,856 - 41,111,373NCBI
Celera441,702,199 - 41,713,746 (+)NCBI
Cytogenetic Map4p13NCBI
HuRef440,580,844 - 40,592,391 (+)NCBIHuRef
CHM1_1441,259,044 - 41,270,591 (+)NCBICHM1_1
Uchl1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39566,833,464 - 66,844,577 (+)NCBIGRCm39mm39
GRCm39 Ensembl566,833,434 - 66,844,577 (+)Ensembl
GRCm38566,676,121 - 66,687,234 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl566,676,091 - 66,687,234 (+)EnsemblGRCm38mm10GRCm38
MGSCv37567,067,360 - 67,078,473 (+)NCBIGRCm37mm9NCBIm37
MGSCv36566,955,425 - 66,966,369 (+)NCBImm8
Celera563,976,841 - 63,987,914 (+)NCBICelera
Cytogenetic Map5C3.1NCBI
cM Map535.95NCBI
Uchl1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21441,485,033 - 41,495,590 (-)NCBI
Rnor_6.0 Ensembl1443,133,218 - 43,143,973 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01443,133,224 - 43,143,942 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01442,928,247 - 42,938,981 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41444,114,392 - 44,124,947 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11444,116,782 - 44,127,338 (-)NCBI
Celera1440,639,549 - 40,650,302 (-)NCBICelera
Cytogenetic Map14p11NCBI
Uchl1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554436,367,460 - 6,380,462 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554436,367,519 - 6,379,638 (-)NCBIChiLan1.0ChiLan1.0
UCHL1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1441,432,367 - 41,440,129 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl441,428,759 - 41,440,129 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0435,580,755 - 35,592,314 (+)NCBIMhudiblu_PPA_v0panPan3
UCHL1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1371,396,694 - 71,430,395 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl371,370,822 - 71,411,350 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha373,946,978 - 73,961,370 (-)NCBI
ROS_Cfam_1.0372,157,557 - 72,171,966 (-)NCBI
UMICH_Zoey_3.1371,427,585 - 71,441,983 (-)NCBI
UNSW_CanFamBas_1.0371,589,640 - 71,604,050 (-)NCBI
UU_Cfam_GSD_1.0371,972,745 - 71,987,146 (-)NCBI
Uchl1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440528537,734,649 - 37,746,530 (-)NCBI
SpeTri2.0NW_0049364828,551,749 - 8,563,586 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
UCHL1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl832,353,246 - 32,367,323 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1832,353,766 - 32,367,288 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2833,970,620 - 33,982,399 (+)NCBISscrofa10.2Sscrofa10.2susScr3
UCHL1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1279,074,961 - 9,086,606 (-)NCBI
ChlSab1.1 Ensembl279,074,923 - 9,086,517 (-)Ensembl
Uchl1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462476125,786,028 - 25,797,641 (-)NCBI

Position Markers
SHGC-59749  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37441,270,087 - 41,270,315UniSTSGRCh37
Build 36440,964,844 - 40,965,072RGDNCBI36
Celera441,713,387 - 41,713,615RGD
Cytogenetic Map4p14UniSTS
HuRef440,592,032 - 40,592,260UniSTS
GeneMap99-GB4 RH Map4203.23UniSTS
NCBI RH Map4504.6UniSTS
SHGC-67809  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37441,270,183 - 41,270,316UniSTSGRCh37
Build 36440,964,940 - 40,965,073RGDNCBI36
Celera441,713,483 - 41,713,616RGD
Cytogenetic Map4p14UniSTS
HuRef440,592,128 - 40,592,261UniSTS
GeneMap99-GB4 RH Map4203.76UniSTS
NCBI RH Map4504.6UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2330
Count of miRNA genes:866
Interacting mature miRNAs:1002
Transcripts:ENST00000284440, ENST00000381760, ENST00000472501, ENST00000503431, ENST00000504818, ENST00000505232, ENST00000508768, ENST00000510566, ENST00000512419, ENST00000512788, ENST00000514764, ENST00000514924
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High 2 10 2 2 7 600 3 8 56
Medium 1757 1791 1104 67 549 39 2963 1415 3105 298 1265 1118 34 1120 2003
Low 608 764 454 407 836 275 1349 762 24 105 157 420 137 1 84 785 2
Below cutoff 34 409 144 139 472 140 24 8 3 12 14 9 2 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012931 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004181 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209038 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC095043 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH007277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK054579 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315368 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC005117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC006305 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC018838 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP202166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ224355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ812036 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ472201 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X04741 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X17377 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000284440   ⟹   ENSP00000284440
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl441,256,928 - 41,268,455 (+)Ensembl
RefSeq Acc Id: ENST00000381760
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl441,256,908 - 41,268,428 (+)Ensembl
RefSeq Acc Id: ENST00000472501
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl441,256,946 - 41,268,427 (+)Ensembl
RefSeq Acc Id: ENST00000503431   ⟹   ENSP00000422542
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl441,256,769 - 41,268,256 (+)Ensembl
RefSeq Acc Id: ENST00000504818
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl441,256,933 - 41,261,923 (+)Ensembl
RefSeq Acc Id: ENST00000505232   ⟹   ENSP00000423348
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl441,256,932 - 41,268,108 (+)Ensembl
RefSeq Acc Id: ENST00000508768   ⟹   ENSP00000426895
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl441,256,940 - 41,268,239 (+)Ensembl
RefSeq Acc Id: ENST00000510566
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl441,261,739 - 41,264,465 (+)Ensembl
RefSeq Acc Id: ENST00000512419   ⟹   ENSP00000425714
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl441,256,911 - 41,268,455 (+)Ensembl
RefSeq Acc Id: ENST00000512788   ⟹   ENSP00000423623
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl441,256,945 - 41,268,125 (+)Ensembl
RefSeq Acc Id: ENST00000514764
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl441,260,639 - 41,268,429 (+)Ensembl
RefSeq Acc Id: ENST00000514924   ⟹   ENSP00000426634
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl441,256,413 - 41,257,737 (+)Ensembl
RefSeq Acc Id: NM_004181   ⟹   NP_004172
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38441,256,928 - 41,268,455 (+)NCBI
GRCh37441,258,898 - 41,270,446 (+)ENTREZGENE
Build 36440,953,686 - 40,965,203 (+)NCBI Archive
HuRef440,580,844 - 40,592,391 (+)ENTREZGENE
CHM1_1441,259,044 - 41,270,591 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_004172   ⟸   NM_004181
- UniProtKB: P09936 (UniProtKB/Swiss-Prot),   V9HW74 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000422542   ⟸   ENST00000503431
RefSeq Acc Id: ENSP00000423348   ⟸   ENST00000505232
RefSeq Acc Id: ENSP00000426895   ⟸   ENST00000508768
RefSeq Acc Id: ENSP00000284440   ⟸   ENST00000284440
RefSeq Acc Id: ENSP00000423623   ⟸   ENST00000512788
RefSeq Acc Id: ENSP00000425714   ⟸   ENST00000512419
RefSeq Acc Id: ENSP00000426634   ⟸   ENST00000514924
Protein Domains
UCH_1

Promoters
RGD ID:6802747
Promoter ID:HG_KWN:48120
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000216827,   UC003GVP.1,   UC003GVQ.1,   UC003GVR.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36440,953,499 - 40,953,999 (+)MPROMDB
RGD ID:6851470
Promoter ID:EP73536
Type:multiple initiation site
Name:HS_UCHL1
Description:Ubiquitin carboxyl-terminal esterase L1 (ubiquitinthiolesterase).
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 36440,953,702 - 40,953,762EPD
RGD ID:6814735
Promoter ID:HG_XEF:5874
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:NM_001011321
Position:
Human AssemblyChrPosition (strand)Source
Build 36440,954,019 - 40,954,519 (+)MPROMDB
RGD ID:6867292
Promoter ID:EPDNEW_H6811
Type:initiation region
Name:UCHL1_1
Description:ubiquitin C-terminal hydrolase L1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38441,256,928 - 41,256,988EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_004181.5(UCHL1):c.279C>G (p.Ile93Met) single nucleotide variant Parkinson disease 5 [RCV000013091] Chr4:41260751 [GRCh38]
Chr4:41262768 [GRCh37]
Chr4:4p13
pathogenic|risk factor
NM_004181.5(UCHL1):c.53C>A (p.Ser18Tyr) single nucleotide variant Parkinson disease 5 [RCV000013092] Chr4:41257616 [GRCh38]
Chr4:41259633 [GRCh37]
Chr4:4p13
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004181.5(UCHL1):c.20A>C (p.Glu7Ala) single nucleotide variant Spastic paraplegia 79, autosomal recessive [RCV000074332] Chr4:41256996 [GRCh38]
Chr4:41259013 [GRCh37]
Chr4:4p13
pathogenic
NM_004181.4(UCHL1):c.480C>T (p.Phe160=) single nucleotide variant Malignant melanoma [RCV000060992] Chr4:41263245 [GRCh38]
Chr4:41265262 [GRCh37]
Chr4:40960019 [NCBI36]
Chr4:4p13
not provided
GRCh38/hg38 4p14-11(chr4:40496476-49579850)x3 copy number gain See cases [RCV000134946] Chr4:40496476..49579850 [GRCh38]
Chr4:40498493..49581867 [GRCh37]
Chr4:40193250..49276624 [NCBI36]
Chr4:4p14-11
pathogenic
GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3 copy number gain See cases [RCV000137261] Chr4:36424..47491595 [GRCh38]
Chr4:36424..47493612 [GRCh37]
Chr4:26424..47188369 [NCBI36]
Chr4:4p16.3-12
pathogenic
GRCh38/hg38 4p14-12(chr4:39444586-46117146)x3 copy number gain See cases [RCV000138039] Chr4:39444586..46117146 [GRCh38]
Chr4:39446206..46119163 [GRCh37]
Chr4:39122601..45813920 [NCBI36]
Chr4:4p14-12
uncertain significance
GRCh37/hg19 4p14-11(chr4:38532827-49064044)x3 copy number gain See cases [RCV000240190] Chr4:38532827..49064044 [GRCh37]
Chr4:4p14-11
pathogenic
NM_004181.5(UCHL1):c.370A>C (p.Met124Leu) single nucleotide variant Parkinson disease 5 [RCV001144813]|not specified [RCV000239068] Chr4:41261759 [GRCh38]
Chr4:41263776 [GRCh37]
Chr4:4p13
likely benign|uncertain significance
NM_004181.5(UCHL1):c.*309T>C single nucleotide variant Parkinson disease 5 [RCV000267670] Chr4:41268382 [GRCh38]
Chr4:41270399 [GRCh37]
Chr4:4p13
benign|likely benign
NM_004181.5(UCHL1):c.-47C>T single nucleotide variant Parkinson disease 5 [RCV000283383] Chr4:41256930 [GRCh38]
Chr4:41258947 [GRCh37]
Chr4:4p13
uncertain significance
GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3 copy number gain See cases [RCV000240562] Chr4:12440..49064044 [GRCh37]
Chr4:4p16.3-11
pathogenic
NM_004181.5(UCHL1):c.513C>T (p.His171=) single nucleotide variant Parkinson disease 5 [RCV000397408]|not provided [RCV000880496] Chr4:41263278 [GRCh38]
Chr4:41265295 [GRCh37]
Chr4:4p13
likely benign|uncertain significance
NM_004181.5(UCHL1):c.-16C>T single nucleotide variant Parkinson disease 5 [RCV000375330] Chr4:41256961 [GRCh38]
Chr4:41258978 [GRCh37]
Chr4:4p13
benign|likely benign
NM_004181.5(UCHL1):c.609A>G (p.Glu203=) single nucleotide variant Parkinson disease 5 [RCV000399103]|not provided [RCV000903118] Chr4:41268010 [GRCh38]
Chr4:41270027 [GRCh37]
Chr4:4p13
benign|likely benign
NM_004181.5(UCHL1):c.45+6T>C single nucleotide variant Parkinson disease 5 [RCV000336010] Chr4:41257132 [GRCh38]
Chr4:41259149 [GRCh37]
Chr4:4p13
benign|likely benign
NM_004181.5(UCHL1):c.-24A>G single nucleotide variant Parkinson disease 5 [RCV000337079] Chr4:41256953 [GRCh38]
Chr4:41258970 [GRCh37]
Chr4:4p13
benign|likely benign
NM_004181.4(UCHL1):c.-71C>G single nucleotide variant Parkinson disease 5 [RCV000380128] Chr4:41256906 [GRCh38]
Chr4:41258923 [GRCh37]
Chr4:4p13
benign|uncertain significance
NM_004181.5(UCHL1):c.*294G>A single nucleotide variant Parkinson disease 5 [RCV000360018] Chr4:41268367 [GRCh38]
Chr4:41270384 [GRCh37]
Chr4:4p13
benign|likely benign
NM_004181.5(UCHL1):c.527-3C>T single nucleotide variant Parkinson disease 5 [RCV000308637] Chr4:41264100 [GRCh38]
Chr4:41266117 [GRCh37]
Chr4:4p13
uncertain significance
NM_004181.5(UCHL1):c.558C>T (p.Gly186=) single nucleotide variant Parkinson disease 5 [RCV000365722]|not provided [RCV000965672] Chr4:41264134 [GRCh38]
Chr4:41266151 [GRCh37]
Chr4:4p13
benign|likely benign
NM_004181.5(UCHL1):c.175-5C>T single nucleotide variant Parkinson disease 5 [RCV000296152]|not provided [RCV000916150] Chr4:41260642 [GRCh38]
Chr4:41262659 [GRCh37]
Chr4:4p13
benign|likely benign|uncertain significance
NM_004181.5(UCHL1):c.326-4del deletion Parkinson Disease, Dominant [RCV000348738] Chr4:41261702 [GRCh38]
Chr4:41263719 [GRCh37]
Chr4:4p13
likely benign
NM_004181.5(UCHL1):c.33+5G>C single nucleotide variant Parkinson disease 5 [RCV000278546] Chr4:41257014 [GRCh38]
Chr4:41259031 [GRCh37]
Chr4:4p13
uncertain significance
NM_004181.5(UCHL1):c.*125C>T single nucleotide variant Parkinson disease 5 [RCV000307478] Chr4:41268198 [GRCh38]
Chr4:41270215 [GRCh37]
Chr4:4p13
uncertain significance
NM_004181.5(UCHL1):c.385_386AG[4] (p.Ala130fs) microsatellite not provided [RCV000584842] Chr4:41261773..41261774 [GRCh38]
Chr4:41263790..41263791 [GRCh37]
Chr4:4p13
likely pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain See cases [RCV000449078] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11
pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49093788)x3 copy number gain See cases [RCV000446451] Chr4:68345..49093788 [GRCh37]
Chr4:4p16.3-11
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
NM_004181.5(UCHL1):c.533G>A (p.Arg178Gln) single nucleotide variant Parkinson disease 5 [RCV001146776]|Spastic paraplegia 79, autosomal recessive [RCV000417182] Chr4:41264109 [GRCh38]
Chr4:41266126 [GRCh37]
Chr4:4p13
pathogenic|uncertain significance
NM_004181.5(UCHL1):c.647C>A (p.Ala216Asp) single nucleotide variant Spastic paraplegia 79, autosomal recessive [RCV000417145] Chr4:41268048 [GRCh38]
Chr4:41270065 [GRCh37]
Chr4:4p13
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3 copy number gain See cases [RCV000511193] Chr4:68345..66440622 [GRCh37]
Chr4:4p16.3-q13.1
pathogenic
NM_004181.5(UCHL1):c.459+2T>C single nucleotide variant Spastic paraplegia 79, autosomal recessive [RCV000625742] Chr4:41261925 [GRCh38]
Chr4:41263942 [GRCh37]
Chr4:4p13
likely pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain not provided [RCV000682363] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-11(chr4:1356924-49659859)x3 copy number gain not provided [RCV000743201] Chr4:1356924..49659859 [GRCh37]
Chr4:4p16.3-11
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-12(chr4:49450-46339070)x3 copy number gain not provided [RCV000743154] Chr4:49450..46339070 [GRCh37]
Chr4:4p16.3-12
pathogenic
NM_004181.5(UCHL1):c.457C>T (p.Arg153Trp) single nucleotide variant Parkinson disease 5 [RCV001146775] Chr4:41261921 [GRCh38]
Chr4:41263938 [GRCh37]
Chr4:4p13
uncertain significance
NM_004181.5(UCHL1):c.*276T>A single nucleotide variant Parkinson disease 5 [RCV001147680] Chr4:41268349 [GRCh38]
Chr4:41270366 [GRCh37]
Chr4:4p13
likely benign
NM_004181.5(UCHL1):c.412-4G>A single nucleotide variant Parkinson disease 5 [RCV001144814]|not provided [RCV000906908] Chr4:41261872 [GRCh38]
Chr4:41263889 [GRCh37]
Chr4:4p13
likely benign|uncertain significance
NM_004181.5(UCHL1):c.69C>T (p.Ala23=) single nucleotide variant Parkinson disease 5 [RCV001144810]|not provided [RCV000950668] Chr4:41257632 [GRCh38]
Chr4:41259649 [GRCh37]
Chr4:4p13
likely benign
NM_004181.5(UCHL1):c.648C>T (p.Ala216=) single nucleotide variant not provided [RCV000916212] Chr4:41268049 [GRCh38]
Chr4:41270066 [GRCh37]
Chr4:4p13
likely benign
NC_000004.12:g.41256918C>G single nucleotide variant Parkinson disease 5 [RCV001147585] Chr4:41256918 [GRCh38]
Chr4:41258935 [GRCh37]
Chr4:4p13
uncertain significance
NM_004181.5(UCHL1):c.*84C>G single nucleotide variant Parkinson disease 5 [RCV001146778] Chr4:41268157 [GRCh38]
Chr4:41270174 [GRCh37]
Chr4:4p13
uncertain significance
NM_004181.5(UCHL1):c.-46T>C single nucleotide variant Parkinson disease 5 [RCV001150909] Chr4:41256931 [GRCh38]
Chr4:41258948 [GRCh37]
Chr4:4p13
uncertain significance
NM_004181.5(UCHL1):c.-26C>T single nucleotide variant Parkinson disease 5 [RCV001150910] Chr4:41256951 [GRCh38]
Chr4:41258968 [GRCh37]
Chr4:4p13
uncertain significance
NM_004181.5(UCHL1):c.-17C>T single nucleotide variant Parkinson disease 5 [RCV001150912] Chr4:41256960 [GRCh38]
Chr4:41258977 [GRCh37]
Chr4:4p13
uncertain significance
NC_000004.12:g.41256926C>A single nucleotide variant Parkinson disease 5 [RCV001147586] Chr4:41256926 [GRCh38]
Chr4:41258943 [GRCh37]
Chr4:4p13
uncertain significance
NM_004181.5(UCHL1):c.162C>T (p.Pro54=) single nucleotide variant not provided [RCV000937053] Chr4:41257725 [GRCh38]
Chr4:41259742 [GRCh37]
Chr4:4p13
likely benign
NM_004181.5(UCHL1):c.435C>T (p.Ala145=) single nucleotide variant not provided [RCV000956191] Chr4:41261899 [GRCh38]
Chr4:41263916 [GRCh37]
Chr4:4p13
likely benign
NM_004181.5(UCHL1):c.174+6G>A single nucleotide variant Parkinson disease 5 [RCV001144811] Chr4:41257743 [GRCh38]
Chr4:41259760 [GRCh37]
Chr4:4p13
uncertain significance
NM_004181.5(UCHL1):c.223G>A (p.Val75Ile) single nucleotide variant Parkinson disease 5 [RCV001144812] Chr4:41260695 [GRCh38]
Chr4:41262712 [GRCh37]
Chr4:4p13
uncertain significance
GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3 copy number gain See cases [RCV001194594] Chr4:49450..49620898 [GRCh37]
Chr4:4p16.3-11
pathogenic
NM_004181.5(UCHL1):c.-25T>C single nucleotide variant Parkinson disease 5 [RCV001150911] Chr4:41256952 [GRCh38]
Chr4:41258969 [GRCh37]
Chr4:4p13
uncertain significance
NM_004181.5(UCHL1):c.586-4C>A single nucleotide variant Parkinson disease 5 [RCV001146777] Chr4:41267983 [GRCh38]
Chr4:41270000 [GRCh37]
Chr4:4p13
uncertain significance
NM_004181.5(UCHL1):c.*250T>C single nucleotide variant Parkinson disease 5 [RCV001147679] Chr4:41268323 [GRCh38]
Chr4:41270340 [GRCh37]
Chr4:4p13
uncertain significance
NM_004181.5(UCHL1):c.64dup (p.Val22fs) duplication not provided [RCV001267902] Chr4:41257622..41257623 [GRCh38]
Chr4:41259639..41259640 [GRCh37]
Chr4:4p13
likely pathogenic
NM_004181.5(UCHL1):c.349_364del (p.Phe117fs) deletion not provided [RCV001268796] Chr4:41261727..41261742 [GRCh38]
Chr4:41263744..41263759 [GRCh37]
Chr4:4p13
likely pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:12513 AgrOrtholog
COSMIC UCHL1 COSMIC
Ensembl Genes ENSG00000154277 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000284440 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000422542 UniProtKB/Swiss-Prot
  ENSP00000423348 UniProtKB/TrEMBL
  ENSP00000423623 UniProtKB/TrEMBL
  ENSP00000425714 UniProtKB/TrEMBL
  ENSP00000426634 UniProtKB/TrEMBL
  ENSP00000426895 UniProtKB/TrEMBL
Ensembl Transcript ENST00000284440 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000503431 UniProtKB/Swiss-Prot
  ENST00000505232 UniProtKB/TrEMBL
  ENST00000508768 UniProtKB/TrEMBL
  ENST00000512419 UniProtKB/TrEMBL
  ENST00000512788 UniProtKB/TrEMBL
  ENST00000514924 UniProtKB/TrEMBL
Gene3D-CATH 3.40.532.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000154277 GTEx
HGNC ID HGNC:12513 ENTREZGENE
Human Proteome Map UCHL1 Human Proteome Map
InterPro Papain-like_cys_pep_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_C12_UCH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_C12_UCH_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UCHL1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:7345 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 7345 ENTREZGENE
OMIM 191342 OMIM
  613643 OMIM
  615491 OMIM
PANTHER PTHR10589 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10589:SF19 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Peptidase_C12 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA37160 PharmGKB
PRINTS UBCTHYDRLASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE UCH_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF54001 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A6NLJ7_HUMAN UniProtKB/TrEMBL
  D6R956_HUMAN UniProtKB/TrEMBL
  D6R974_HUMAN UniProtKB/TrEMBL
  D6RE83_HUMAN UniProtKB/TrEMBL
  D6RF53_HUMAN UniProtKB/TrEMBL
  D6RJD9_HUMAN UniProtKB/TrEMBL
  P09936 ENTREZGENE, UniProtKB/Swiss-Prot
  V9HW74 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary A0A024R9X2 UniProtKB/TrEMBL
  Q4W5K6 UniProtKB/Swiss-Prot
  Q71UM0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-17 UCHL1  ubiquitin C-terminal hydrolase L1  UCHL1  ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)  Symbol and/or name change 5135510 APPROVED