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Homo sapiens cylindromatosis (turban tumor syndrome) (CYLD), transcript variant 3, mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001042412 Homo sapiens cylindromatosis (turban tumor syndrome) (CYLD), transcript variant 3, mRNA. GenEZ ORF Cloning On-demand $899.00 20

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RefSeq Version NM_001042412.1, 109637775
Length 8608 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens cylindromatosis (turban tumor syndrome) (CYLD), transcript variant 3, mRNA.
Product ubiquitin carboxyl-terminal hydrolase CYLD isoform 2
Comment

Summary: This gene is encodes a cytoplasmic protein with three cytoskeletal-associated protein-glycine-conserved (CAP-GLY) domains that functions as a deubiquitinating enzyme. Mutations in this gene have been associated with cylindromatosis, multiple familial trichoepithelioma, and Brooke-Spiegler syndrome. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008].


Transcript Variant: This variant (3) has an alternate 5' terminal exon, and lacks one exon in the 5' UTR and another in-frame exon in the coding region, compared to variant 1, resulting in a shorter protein (isoform 2), compared to isoform 1. Variants 2 and 3 encode the same isoform.

RefSeq NP_001035877.1
CDS 303..3164
Misc Feature(1)279..281
Misc Feature(2)681..911
Misc Feature(3)681..911
Misc Feature(4)996..1211
Misc Feature(5)1473..1700
Misc Feature(6)1488..1490
Misc Feature(7)1545..1547
Misc Feature(8)1701..1955
Misc Feature(9)1707..1913
Misc Feature(10)2322..3137
Misc Feature(11)order(2904..2906,2961..2963)
Exon (1)1..99
Gene:CYLD
Gene Synonym:BRSS; CDMT; CYLD1; CYLDI; EAC; MFT; MFT1; SBS; TEM; USPL2
Exon (2)100..179
Gene:CYLD
Gene Synonym:BRSS; CDMT; CYLD1; CYLDI; EAC; MFT; MFT1; SBS; TEM; USPL2
Exon (3)180..806
Gene:CYLD
Gene Synonym:BRSS; CDMT; CYLD1; CYLDI; EAC; MFT; MFT1; SBS; TEM; USPL2
Exon (4)807..1109
Gene:CYLD
Gene Synonym:BRSS; CDMT; CYLD1; CYLDI; EAC; MFT; MFT1; SBS; TEM; USPL2
Exon (5)1110..1215
Gene:CYLD
Gene Synonym:BRSS; CDMT; CYLD1; CYLDI; EAC; MFT; MFT1; SBS; TEM; USPL2
Exon (6)1216..1314
Gene:CYLD
Gene Synonym:BRSS; CDMT; CYLD1; CYLDI; EAC; MFT; MFT1; SBS; TEM; USPL2
Exon (7)1315..1431
Gene:CYLD
Gene Synonym:BRSS; CDMT; CYLD1; CYLDI; EAC; MFT; MFT1; SBS; TEM; USPL2
Exon (8)1432..1811
Gene:CYLD
Gene Synonym:BRSS; CDMT; CYLD1; CYLDI; EAC; MFT; MFT1; SBS; TEM; USPL2
Exon (9)1812..1977
Gene:CYLD
Gene Synonym:BRSS; CDMT; CYLD1; CYLDI; EAC; MFT; MFT1; SBS; TEM; USPL2
Exon (10)1978..2119
Gene:CYLD
Gene Synonym:BRSS; CDMT; CYLD1; CYLDI; EAC; MFT; MFT1; SBS; TEM; USPL2
Exon (11)2120..2242
Gene:CYLD
Gene Synonym:BRSS; CDMT; CYLD1; CYLDI; EAC; MFT; MFT1; SBS; TEM; USPL2
Exon (12)2243..2334
Gene:CYLD
Gene Synonym:BRSS; CDMT; CYLD1; CYLDI; EAC; MFT; MFT1; SBS; TEM; USPL2
Exon (13)2335..2401
Gene:CYLD
Gene Synonym:BRSS; CDMT; CYLD1; CYLDI; EAC; MFT; MFT1; SBS; TEM; USPL2
Exon (14)2402..2534
Gene:CYLD
Gene Synonym:BRSS; CDMT; CYLD1; CYLDI; EAC; MFT; MFT1; SBS; TEM; USPL2
Exon (15)2535..2643
Gene:CYLD
Gene Synonym:BRSS; CDMT; CYLD1; CYLDI; EAC; MFT; MFT1; SBS; TEM; USPL2
Exon (16)2644..2762
Gene:CYLD
Gene Synonym:BRSS; CDMT; CYLD1; CYLDI; EAC; MFT; MFT1; SBS; TEM; USPL2
Exon (17)2763..2979
Gene:CYLD
Gene Synonym:BRSS; CDMT; CYLD1; CYLDI; EAC; MFT; MFT1; SBS; TEM; USPL2
Exon (18)2980..8591
Gene:CYLD
Gene Synonym:BRSS; CDMT; CYLD1; CYLDI; EAC; MFT; MFT1; SBS; TEM; USPL2
Translation MSSGLWSQEKVTSPYWEERIFYLLLQECSVTDKQTQKLLKVPKGSIGQYIQDRSVGHSRI PSAKGKKNQIGLKILEQPHAVLFVDEKDVVEINEKFTELLLAITNCEERFSLFKNRNRLS KGLQIDVGCPVKVQLRSGEEKFPGVVRFRGPLLAERTVSGIFFGVELLEEGRGQGFTDGV YQGKQLFQCDEDCGVFVALDKLELIEDDDTALESDYAGPGDTMQVELPPLEINSRVSLKV GETIESGTVIFCDVLPGKESLGYFVGVDMDNPIGNWDGRFDGVQLCSFACVESTILLHIN DIIPESVTQERRPPKLAFMSRGVGDKGSSSHNKPKATGSTSDPGNRNRSELFYTLNGSSV DSQPQSKSKNTWYIDEVAEDPAKSLTEISTDFDRSSPPLQPPPVNSLTTENRFHSLPFSL TKMPNTNGSIGHSPLSLSAQSVMEELNTAPVQESPPLAMPPGNSHGLEVGSLAEVKENPP FYGVIRWIGQPPGLNEVLAGLELEDECAGCTDGTFRGTRYFTCALKKALFVKLKSCRPDS RFASLQPVSNQIERCNSLAFGGYLSEVVEENTPPKMEKEGLEIMIGKKKGIQGHYNSCYL DSTLFCLFAFSSVLDTVLLRPKEKNDVEYYSETQELLRTEIVNPLRIYGYVCATKIMKLR KILEKVEAASGFTSEEKDPEEFLNILFHHILRVEPLLKIRSAGQKVQDCYFYQIFMEKNE KVGVPTIQQLLEWSFINSNLKFAEAPSCLIIQMPRFGKDFKLFKKIFPSLELNITDLLED TPRQCRICGGLAMYECRECYDDPDISAGKIKQFCKTCNTQVHLHPKRLNHKYNPVSLPKD LPDWDWRHGCIPCQNMELFAVLCIETSHYVAFVKYGKDDSAWLFFDSMADRDGGQNGFNI PQVTPCPEVGEYLKMSLEDLHSLDSRRIQGCARRLLCDAYMCMYQSPTMSLYK
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Position Chain Variation Link
199..200+dbSNP:
199..200+, adbSNP:67190903
283+a, gdbSNP:190977024
389+c, tdbSNP:34564491
428+a, gdbSNP:202119806
541+c, tdbSNP:201666656
816+dbSNP:
816+c, tdbSNP:201836260
820+a, gdbSNP:12599808
884+c, tdbSNP:201431389
977+c, tdbSNP:184354524
1193+dbSNP:
1193+a, gdbSNP:140033230
1211+c, tdbSNP:202154956
1225+dbSNP:
1225+c, tdbSNP:200271412
1429..1430+dbSNP:
1429..1430+, adbSNP:67074993
1456+dbSNP:
1456+c, tdbSNP:199606039
1459+c, gdbSNP:200759332
1465+c, tdbSNP:138976689
1482+a, cdbSNP:149427272
1485+g, tdbSNP:202120212
1585+a, gdbSNP:200494719
1649+a, gdbSNP:200886685
1653+a, gdbSNP:200451975
1766+c, tdbSNP:75757530
1843+dbSNP:
1843+c, gdbSNP:201523761
2213+dbSNP:
2213+a, gdbSNP:182210792
2438+dbSNP:
2438+c, tdbSNP:200905032
2533+a, gdbSNP:121908389
2565+dbSNP:
2565+c, tdbSNP:121908388
2612+a, gdbSNP:199912760
2683+dbSNP:
2683+a, gdbSNP:199624138
2705+c, tdbSNP:2066852
2882+dbSNP:
2882+c, tdbSNP:201868355
2891+a, cdbSNP:200765362
2899+a, cdbSNP:200154154
3099+dbSNP:
3099+c, tdbSNP:121908390
3107+a, gdbSNP:199632232
3211+a, gdbSNP:116979331
3303+a, gdbSNP:148107725
3546+c, tdbSNP:142580891
3943+a, gdbSNP:190787930
3995+c, tdbSNP:144877731
4001+c, tdbSNP:3743781
4005+a, gdbSNP:117537927
4217+a, tdbSNP:147959249
4266+a, gdbSNP:141088048
4286+a, gdbSNP:114552144
4355+c, gdbSNP:146935881
4406+a, cdbSNP:150937990
4409+c, tdbSNP:192470603
4505+g, tdbSNP:140767609
4591+a, gdbSNP:150124371
4739+a, gdbSNP:184344245
4813+a, gdbSNP:188778402
4963+c, tdbSNP:138586985
4995+a, gdbSNP:181246559
5086+a, tdbSNP:141752920
5148+a, cdbSNP:145519346
5269..5271+, ggadbSNP:75414200
5271..5273+, aaadbSNP:74757288
5271+, adbSNP:111804189
5272+a, gdbSNP:79868875
5288+c, tdbSNP:199826833
5326+a, cdbSNP:138143910
5400+c, tdbSNP:57638820
5435+a, gdbSNP:185590115
5499+c, tdbSNP:9646285
5533+a, gdbSNP:16948829
5546+c, tdbSNP:189512578
5779+a, gdbSNP:181056407
5840+a, cdbSNP:76888453
5874+c, tdbSNP:141928186
6234+a, gdbSNP:144667145
6247+c, tdbSNP:185943382
6276+, tdbSNP:149875014
6403+a, gdbSNP:34088926
6473+c, tdbSNP:192317768
6587+a, gdbSNP:183255879
6619+c, tdbSNP:186163821
6633+c, tdbSNP:111951225
6727+a, gdbSNP:190533095
6843+c, tdbSNP:141888517
6860+c, tdbSNP:182950511
6903+c, gdbSNP:16948836
6920+a, gdbSNP:188392607
7037+c, tdbSNP:192669779
7244+c, tdbSNP:183024011
7445+c, gdbSNP:187441896
7725+a, gdbSNP:17314948
7731+c, tdbSNP:113748745
7777..7778+, gdbSNP:34262697
7873+c, tdbSNP:192535029
8004+a, gdbSNP:150641352
8049+a, tdbSNP:184571054
8052..8053+, atdbSNP:143814807
8213+c, tdbSNP:187446083
8401+c, tdbSNP:192242759
8436+c, tdbSNP:140875917
Gene SymbolCYLD
Gene SynonymBRSS; CDMT; CYLD1; CYLDI; EAC; MFT; MFT1; SBS; TEM; USPL2
Chromosome16
Locus Map16q12.1
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_001042355 Homo sapiens cylindromatosis (turban tumor syndrome) (CYLD), transcript variant 2, mRNA. On-demand $899.00 20
NM_001042412 Homo sapiens cylindromatosis (turban tumor syndrome) (CYLD), transcript variant 3, mRNA. On-demand $899.00 20
NM_015247 Homo sapiens cylindromatosis (turban tumor syndrome) (CYLD), transcript variant 1, mRNA. On-demand $899.00 20
Title CYLD inhibits melanoma growth and progression through suppression of the JNK/AP-1 and beta1-integrin signaling pathways .
Author Ke,H., Augustine,C.K., Gandham,V.D., Jin,J.Y., Tyler,D.S., Akiyama,S.K., Hall,R.P. and Zhang,J.Y.
Journal J. Invest. Dermatol. 133 (1), 221-229 (2013)
Title A20 and CYLD do not share significant overlapping functions during .
Author Chu,Y., Soberon,V., Glockner,L., Beyaert,R., Massoumi,R., van Loo,G., Krappmann,D. and Schmidt-Supprian,M.
Journal J. Immunol. 189 (9), 4437-4443 (2012)
Title CEP192 interacts physically and functionally with the K63-deubiquitinase CYLD to promote mitotic spindle assembly .
Author Gomez-Ferreria,M.A., Bashkurov,M., Mullin,M., Gingras,A.C. and Pelletier,L.
Journal Cell Cycle 11 (19), 3555-3558 (2012)
Title Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture .
Author Estrada,K., Styrkarsdottir,U., Evangelou,E., Hsu,Y.H., Duncan,E.L., Ntzani,E.E., Oei,L., Albagha,O.M., Amin,N., Kemp,J.P., Koller,D.L., Li,G., Liu,C.T., Minster,R.L., Moayyeri,A., Vandenput,L., Willner,D., Xiao,S.M., Yerges-Armstrong,L.M., Zheng,H.F., Alonso,N., Eriksson,J., Kammerer,C.M., Kaptoge,S.K., Leo,P.J., Thorleifsson,G., Wilson,S.G., Wilson,J.F., Aalto,V., Alen,M., Aragaki,A.K., Aspelund,T., Center,J.R., Dailiana,Z., Duggan,D.J., Garcia,M., Garcia-Giralt,N., Giroux,S., Hallmans,G., Hocking,L.J., Husted,L.B., Jameson,K.A., Khusainova,R., Kim,G.S., Kooperberg,C., Koromila,T., Kruk,M., Laaksonen,M., Lacroix,A.Z., Lee,S.H., Leung,P.C., Lewis,J.R., Masi,L., Mencej-Bedrac,S., Nguyen,T.V., Nogues,X., Patel,M.S., Prezelj,J., Rose,L.M., Scollen,S., Siggeirsdottir,K., Smith,A.V., Svensson,O., Trompet,S., Trummer,O., van Schoor,N.M., Woo,J., Zhu,K., Balcells,S., Brandi,M.L., Buckley,B.M., Cheng,S., Christiansen,C., Cooper,C., Dedoussis,G., Ford,I., Frost,M., Goltzman,D., Gonzalez-Macias,J., Kahonen,M., Karlsson,M., Khusnutdinova,E., Koh,J.M., Kollia,P., Langdahl,B.L., Leslie,W.D., Lips,P., Ljunggren,O., Lorenc,R.S., Marc,J., Mellstrom,D., Obermayer-Pietsch,B., Olmos,J.M., Pettersson-Kymmer,U., Reid,D.M., Riancho,J.A., Ridker,P.M., Rousseau,F., Slagboom,P.E., Tang,N.L., Urreizti,R., Van Hul,W., Viikari,J., Zarrabeitia,M.T., Aulchenko,Y.S., Castano-Betancourt,M., Grundberg,E., Herrera,L., Ingvarsson,T., Johannsdottir,H., Kwan,T., Li,R., Luben,R., Medina-Gomez,C., Palsson,S.T., Reppe,S., Rotter,J.I., Sigurdsson,G., van Meurs,J.B., Verlaan,D., Williams,F.M., Wood,A.R., Zhou,Y., Gautvik,K.M., Pastinen,T., Raychaudhuri,S., Cauley,J.A., Chasman,D.I., Clark,G.R., Cummings,S.R., Danoy,P., Dennison,E.M., Eastell,R., Eisman,J.A., Gudnason,V., Hofman,A., Jackson,R.D., Jones,G., Jukema,J.W., Khaw,K.T., Lehtimaki,T., Liu,Y., Lorentzon,M., McCloskey,E., Mitchell,B.D., Nandakumar,K., Nicholson,G.C., Oostra,B.A., Peacock,M., Pols,H.A., Prince,R.L., Raitakari,O., Reid,I.R., Robbins,J., Sambrook,P.N., Sham,P.C., Shuldiner,A.R., Tylavsky,F.A., van Duijn,C.M., Wareham,N.J., Cupples,L.A., Econs,M.J., Evans,D.M., Harris,T.B., Kung,A.W., Psaty,B.M., Reeve,J., Spector,T.D., Streeten,E.A., Zillikens,M.C., Thorsteinsdottir,U., Ohlsson,C., Karasik,D., Richards,J.B., Brown,M.A., Stefansson,K., Uitterlinden,A.G., Ralston,S.H., Ioannidis,J.P., Kiel,D.P. and Rivadeneira,F.
Journal Nat. Genet. 44 (5), 491-501 (2012)
Title CYLD negatively regulates transforming growth factor-beta-signalling via deubiquitinating Akt .
Author Lim,J.H., Jono,H., Komatsu,K., Woo,C.H., Lee,J., Miyata,M., Matsuno,T., Xu,X., Huang,Y., Zhang,W., Park,S.H., Kim,Y.I., Choi,Y.D., Shen,H., Heo,K.S., Xu,H., Bourne,P., Koga,T., Xu,H., Yan,C., Wang,B., Chen,L.F., Feng,X.H. and Li,J.D.
Journal Nat Commun 3, 771 (2012)
Title Identification of the familial cylindromatosis tumour-suppressor gene .
Author Bignell,G.R., Warren,W., Seal,S., Takahashi,M., Rapley,E., Barfoot,R., Green,H., Brown,C., Biggs,P.J., Lakhani,S.R., Jones,C., Hansen,J., Blair,E., Hofmann,B., Siebert,R., Turner,G., Evans,D.G., Schrander-Stumpel,C., Beemer,F.A., van Den Ouweland,A., Halley,D., Delpech,B., Cleveland,M.G., Leigh,I., Leisti,J. and Rasmussen,S.
Journal Nat. Genet. 25 (2), 160-165 (2000)
Title Brooke-Spiegler syndrome locus assigned to 16q12-q13 .
Author Fenske,C., Banerjee,P., Holden,C. and Carter,N.
Journal J. Invest. Dermatol. 114 (5), 1057-1058 (2000)
Title A new hereditary cylindromatosis family associated with CYLD1 on chromosome 16 .
Author Thomson,S.A., Rasmussen,S.A., Zhang,J. and Wallace,M.R.
Journal Hum. Genet. 105 (1-2), 171-173 (1999)
Title The cylindromatosis gene (cyld1) on chromosome 16q may be the only tumour suppressor gene involved in the development of cylindromas .
Author Biggs,P.J., Chapman,P., Lakhani,S.R., Burn,J. and Stratton,M.R.
Journal Oncogene 12 (6), 1375-1377 (1996)
Title Familial cylindromatosis (turban tumour syndrome) gene localised to chromosome 16q12-q13: evidence for its role as a tumour suppressor gene .
Author Biggs,P.J., Wooster,R., Ford,D., Chapman,P., Mangion,J., Quirk,Y., Easton,D.F., Burn,J. and Stratton,M.R.
Journal Nat. Genet. 11 (4), 441-443 (1995)


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