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Homo sapiens ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase) (UCHL1), mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_004181 Homo sapiens ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase) (UCHL1), mRNA. GenEZ ORF Cloning In-stock $308.00 $259.00 10

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RefSeq Version NM_004181.4, 239835751
Length 1141 bp
Structure linear
Update Date 29-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase) (UCHL1), mRNA.
Product ubiquitin carboxyl-terminal hydrolase isozyme L1
Comment

Summary: 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].

RefSeq NP_004172.2
CDS 97..768
Misc Feature(1)67..69
Misc Feature(2)97..99
Misc Feature(3)97..99
Misc Feature(4)109..753
Misc Feature(5)order(109..126,184..195,250..252,364..366,574..576,
Misc Feature(6)order(109..111,346..348,358..360,364..366,574..579)
Misc Feature(7)109..126
Misc Feature(8)112..114
Misc Feature(9)130..132
Misc Feature(10)order(346..348,364..366,577..579,622..624)
Misc Feature(11)466..468
Misc Feature(12)622..624
Misc Feature(13)631..633
Misc Feature(14)727..744
Misc Feature(15)754..756
Exon (1)1..129
Gene:UCHL1
Gene Synonym:PARK5; PGP 9.5; PGP9.5; PGP95; Uch-L1
Exon (2)130..141
Gene:UCHL1
Gene Synonym:PARK5; PGP 9.5; PGP9.5; PGP95; Uch-L1
Exon (3)142..270
Gene:UCHL1
Gene Synonym:PARK5; PGP 9.5; PGP9.5; PGP95; Uch-L1
Exon (4)271..421
Gene:UCHL1
Gene Synonym:PARK5; PGP 9.5; PGP9.5; PGP95; Uch-L1
Exon (5)422..507
Gene:UCHL1
Gene Synonym:PARK5; PGP 9.5; PGP9.5; PGP95; Uch-L1
Exon (6)508..555
Gene:UCHL1
Gene Synonym:PARK5; PGP 9.5; PGP9.5; PGP95; Uch-L1
Exon (7)556..622
Gene:UCHL1
Gene Synonym:PARK5; PGP 9.5; PGP9.5; PGP95; Uch-L1
Exon (8)623..681
Gene:UCHL1
Gene Synonym:PARK5; PGP 9.5; PGP9.5; PGP95; Uch-L1
Exon (9)682..1124
Gene:UCHL1
Gene Synonym:PARK5; PGP 9.5; PGP9.5; PGP95; Uch-L1
Translation MQLKPMEINPEMLNKVLSRLGVAGQWRFVDVLGLEEESLGSVPAPACALLLLFPLTAQHE NFRKKQIEELKGQEVSPKVYFMKQTIGNSCGTIGLIHAVANNQDKLGFEDGSVLKQFLSE TEKMSPEDRAKCFEKNEAIQAAHDAVAQEGQCRVDDKVNFHFILFNNVDGHLYELDGRMP FPVNHGASSEDTLLKDAAKVCREFTEREQGEVRFSAVALCKAA
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Position Chain Variation Link
26+dbSNP:
26+c, gdbSNP:201100258
69+a, gdbSNP:201952662
73+c, tdbSNP:11556271
81+c, tdbSNP:9321
86+g, tdbSNP:200302762
111..112+a, gdbSNP:11556276
112+a, tdbSNP:201864413
149+dbSNP:
149+a, cdbSNP:5030732
255+c, tdbSNP:11556278
311+dbSNP:
311+a, gdbSNP:189371541
319+a, gdbSNP:148096293
332+c, tdbSNP:11556275
360+c, tdbSNP:111649115
362+c, tdbSNP:11556279
375+c, gdbSNP:121917767
387+c, tdbSNP:192697162
449+dbSNP:
449+c, tdbSNP:11556274
452+c, tdbSNP:141828940
466+a, cdbSNP:150601238
499+a, cdbSNP:200775509
503+a, gdbSNP:139618482
531+dbSNP:
531+c, tdbSNP:142811772
540+a, gdbSNP:147393026
553+c, tdbSNP:139583787
576+dbSNP:
576+c, tdbSNP:146069195
609+c, tdbSNP:145093131
654+dbSNP:
654+c, tdbSNP:116680633
705+dbSNP:
705+a, gdbSNP:147661219
760+a, gdbSNP:112666846
788+c, tdbSNP:77194345
890..891+, acdbSNP:71771085
899+c, tdbSNP:183586019
961..963+, gtgdbSNP:71713660
1002+g, tdbSNP:115323706
1008+a, cdbSNP:11556270
1013+c, tdbSNP:140683078
1044+a, tdbSNP:116336893
1062+a, gdbSNP:116700032
1077+c, tdbSNP:78683791
Gene SymbolUCHL1
Gene SynonymPARK5; PGP 9.5; PGP9.5; PGP95; Uch-L1
Chromosome4
Locus Map4p14
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_004181 Homo sapiens ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase) (UCHL1), mRNA. In-stock $308.00 $259.00 10
Title UCHL1 regulates ubiquitination and recycling of the neural cell adhesion molecule NCAM .
Author Wobst,H., Forster,S., Laurini,C., Sekulla,A., Dreiseidler,M., Hohfeld,J., Schmitz,B. and Diestel,S.
Journal FEBS J. 279 (23), 4398-4409 (2012)
Title Ubiquitin C-terminal hydrolase-L1 interacts with adhesion complexes and promotes cell migration, survival, and anchorage independent growth .
Author Frisan,T., Coppotelli,G., Dryselius,R. and Masucci,M.G.
Journal FASEB J. 26 (12), 5060-5070 (2012)
Title Abeta1-42-mediated down-regulation of Uch-L1 is dependent on NF-kappaB activation and impaired BACE1 lysosomal degradation .
Author Guglielmotto,M., Monteleone,D., Boido,M., Piras,A., Giliberto,L., Borghi,R., Vercelli,A., Fornaro,M., Tabaton,M. and Tamagno,E.
Journal Aging Cell 11 (5), 834-844 (2012)
Title [The role of hypermethylation in promoter region of ubiquitin carboxyl-terminal hydrolase L1 in human esophageal cancer] .
Author Yan,W.J., Guo,M.Z. and Yang,Y.S.
Journal Zhonghua Nei Ke Za Zhi 51 (5), 390-393 (2012)
Title UCHL1 S18Y variant is a risk factor for Parkinson's disease in Japan .
Author Miyake,Y., Tanaka,K., Fukushima,W., Kiyohara,C., Sasaki,S., Tsuboi,Y., Yamada,T., Oeda,T., Shimada,H., Kawamura,N., Sakae,N., Fukuyama,H., Hirota,Y. and Nagai,M.
Journal BMC Neurol 12, 62 (2012)
Title Microsequences of 145 proteins recorded in the two-dimensional gel protein database of normal human epidermal keratinocytes .
Author Rasmussen,H.H., van Damme,J., Puype,M., Gesser,B., Celis,J.E. and Vandekerckhove,J.
Journal Electrophoresis 13 (12), 960-969 (1992)
Title The gene for human neurone specific ubiquitin C-terminal hydrolase (UCHL1, PGP9.5) maps to chromosome 4p14 .
Author Edwards,Y.H., Fox,M.F., Povey,S., Hinks,L.J., Thompson,R.J. and Day,I.N.
Journal Ann. Hum. Genet. 55 (PT 4), 273-278 (1991)
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 .
Author Honore,B., Rasmussen,H.H., Vandekerckhove,J. and Celis,J.E.
Journal FEBS Lett. 280 (2), 235-240 (1991)
Title The structure of the human gene encoding protein gene product 9.5 (PGP9.5), a neuron-specific ubiquitin C-terminal hydrolase .
Author Day,I.N., Hinks,L.J. and Thompson,R.J.
Journal Biochem. J. 268 (2), 521-524 (1990)
Title Molecular cloning of cDNA coding for human PGP 9.5 protein. A novel cytoplasmic marker for neurones and neuroendocrine cells .
Author Day,I.N. and Thompson,R.J.
Journal FEBS Lett. 210 (2), 157-160 (1987)


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