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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

*Business Day

Related Services

RefSeq Version NM_001042412.1, 109637775
Length 8608 bp
Structure linear
Update Date 18-MAY-2014
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..1208
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)2070..3137
Misc Feature(11)order(2079..2081,2094..2096,2904..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
212+dbSNP:
212+a, gdbSNP:369755094
283+a, gdbSNP:190977024
358+a, gdbSNP:374624194
372+c, tdbSNP:368114885
389+c, tdbSNP:34564491
428+a, gdbSNP:202119806
460+a, gdbSNP:375455772
510+a, gdbSNP:369619557
515+a, gdbSNP:373198684
541+c, tdbSNP:201666656
546+c, tdbSNP:376006417
680+c, tdbSNP:369238843
803+c, gdbSNP:373896011
816+dbSNP:
816+c, tdbSNP:201836260
820+a, gdbSNP:12599808
836+c, tdbSNP:377383082
840+g, tdbSNP:370450747
871+a, tdbSNP:374118770
884+c, tdbSNP:201431389
896+a, gdbSNP:367580462
920+a, gdbSNP:371338061
937+c, tdbSNP:375434282
974+g, tdbSNP:372885659
977+c, tdbSNP:184354524
998+a, cdbSNP:375486280
1061+c, tdbSNP:372020998
1193+dbSNP:
1193+a, gdbSNP:140033230
1200+a, gdbSNP:377066412
1211+c, tdbSNP:202154956
1225+dbSNP:
1225+c, tdbSNP:200271412
1253+c, gdbSNP:369147527
1276+a, gdbSNP:372199798
1298+c, tdbSNP:374929114
1334+dbSNP:
1334+a, cdbSNP:369452792
1338+a, gdbSNP:373172148
1456+dbSNP:
1456+c, tdbSNP:199606039
1459+c, gdbSNP:200759332
1465+c, tdbSNP:138976689
1482+a, c, tdbSNP:149427272
1483+a, gdbSNP:370428449
1485+g, tdbSNP:202120212
1502+a, gdbSNP:371382898
1518+c, tdbSNP:375579250
1585+a, gdbSNP:200494719
1616+a, tdbSNP:368393884
1624+c, gdbSNP:371683706
1649+a, gdbSNP:200886685
1653+a, gdbSNP:200451975
1658+a, gdbSNP:371867434
1766+c, tdbSNP:75757530
1775+a, gdbSNP:369789110
1843+dbSNP:
1843+c, gdbSNP:201523761
2018+dbSNP:
2018+c, tdbSNP:373031051
2213+dbSNP:
2213+a, gdbSNP:182210792
2312+dbSNP:
2312+a, gdbSNP:373899187
2438+dbSNP:
2438+c, tdbSNP:200905032
2465+a, cdbSNP:373971257
2533+a, gdbSNP:121908389
2537+dbSNP:
2537+a, gdbSNP:370702435
2565+c, tdbSNP:121908388
2612+a, gdbSNP:199912760
2679+dbSNP:
2679+a, gdbSNP:374104988
2683+a, gdbSNP:199624138
2705+c, tdbSNP:2066852
2727+a, gdbSNP:371330250
2831+dbSNP:
2831+a, cdbSNP:376293566
2846+c, tdbSNP:370020837
2882+c, tdbSNP:201868355
2891+a, cdbSNP:200765362
2899+a, cdbSNP:200154154
2912+g, tdbSNP:373541485
3099+dbSNP:
3099+c, tdbSNP:121908390
3107+a, gdbSNP:199632232
3175+c, tdbSNP:373881703
3198+g, tdbSNP:376027595
3211+a, gdbSNP:116979331
3303+a, gdbSNP:148107725
complement(3546)-t, cdbSNP:142580891
3943+a, gdbSNP:190787930
3995+c, tdbSNP:144877731
complement(4001)-t, cdbSNP:3743781
4005+a, gdbSNP:117537927
4086+a, gdbSNP:375222421
4139+c, gdbSNP:369791294
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+, adbSNP:111804189
5272+a, gdbSNP:79868875
5284..5286+, aaadbSNP:74757288
5288+c, tdbSNP:199826833
5288+c, tdbSNP:386491343
5326+a, cdbSNP:138143910
5400+c, tdbSNP:57638820
5435+a, gdbSNP:185590115
5478..5480+, ttcdbSNP:370824949
5499+c, tdbSNP:9646285
5533+a, gdbSNP:16948829
5546+c, tdbSNP:189512578
5615+c, tdbSNP:368296872
5697+g, tdbSNP:371051271
5770+, tdbSNP:371917388
5779+a, gdbSNP:181056407
5840+a, cdbSNP:76888453
complement(5874)-t, cdbSNP:141928186
5952..5953+, tgdbSNP:375257369
complement(6234)-g, adbSNP:144667145
6247+c, tdbSNP:185943382
6276+, tdbSNP:149875014
6299+c, gdbSNP:374305356
6403+a, gdbSNP:34088926
6416+g, tdbSNP:375925980
6473+c, tdbSNP:192317768
6587+a, gdbSNP:183255879
6619+c, tdbSNP:186163821
6633+c, tdbSNP:111951225
6727+a, gdbSNP:190533095
6757+c, tdbSNP:368698335
6761+c, tdbSNP:372708124
6778+a, cdbSNP:372370285
6843+c, tdbSNP:141888517
6844+g, tdbSNP:374723746
6860+c, tdbSNP:182950511
6903+c, gdbSNP:16948836
6920+a, gdbSNP:188392607
7037+c, tdbSNP:192669779
7110+a, gdbSNP:367816704
7119+a, gdbSNP:371569379
7244+c, tdbSNP:183024011
7318+a, gdbSNP:376037772
7445+c, gdbSNP:187441896
7725+a, gdbSNP:17314948
7731+c, tdbSNP:113748745
7740+a, gdbSNP:373507820
7779..7780+, 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
complement(8436)-t, cdbSNP: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
XM_006721148 PREDICTED: Homo sapiens cylindromatosis (turban tumor syndrome) (CYLD), transcript variant X3, mRNA. On-demand $899.00 20
XM_005255812 PREDICTED: Homo sapiens cylindromatosis (turban tumor syndrome) (CYLD), transcript variant X2, mRNA. On-demand $899.00 20
XM_006721149 PREDICTED: Homo sapiens cylindromatosis (turban tumor syndrome) (CYLD), transcript variant X4, mRNA. On-demand $899.00 20
XM_006721150 PREDICTED: Homo sapiens cylindromatosis (turban tumor syndrome) (CYLD), transcript variant X5, mRNA. On-demand $899.00 20
XM_006721151 PREDICTED: Homo sapiens cylindromatosis (turban tumor syndrome) (CYLD), transcript variant X6, mRNA. On-demand $899.00 20
XM_006721152 PREDICTED: Homo sapiens cylindromatosis (turban tumor syndrome) (CYLD), transcript variant X7, mRNA. On-demand $899.00 20
Title CYLD regulates spindle orientation by stabilizing astral microtubules and promoting dishevelled-NuMA-dynein/dynactin complex formation .
Author Yang Y, Liu M, Li D, Ran J, Gao J, Suo S, Sun SC and Zhou J.
Journal Proc. Natl. Acad. Sci. U.S.A. 111 (6), 2158-2163 (2014)
Title CYLD controls c-MYC expression through the JNK-dependent signaling pathway in hepatocellular carcinoma .
Author Pannem RR, Dorn C, Ahlqvist K, Bosserhoff AK, Hellerbrand C and Massoumi R.
Journal Carcinogenesis 35 (2), 461-468 (2014)
Title Reactive oxygen species-dependent down-regulation of tumor suppressor genes PTEN, USP28, DRAM, TIGAR, and CYLD under oxidative stress .
Author Kim SJ, Jung HJ and Lim CJ.
Journal Biochem. Genet. 51 (11-12), 901-915 (2013)
Title A reporter screen in a human haploid cell line identifies CYLD as a constitutive inhibitor of NF-kappaB .
Author Lee CC, Carette JE, Brummelkamp TR and Ploegh HL.
Journal PLoS ONE 8 (7), E70339 (2013)
Title Multiple trichoepitheliomas associated with a novel heterozygous mutation in the CYLD gene as an adjunct to the histopathological diagnosis .
Author Reuven B, Margarita I, Dov H and Ziad K.
Journal Am J Dermatopathol 35 (4), 445-447 (2013)
Title Identification of the familial cylindromatosis tumour-suppressor gene .
Author Bignell GR, Warren W, Seal S, Takahashi M, Rapley E, Barfoot R, Green H, Brown C, Biggs PJ, Lakhani SR, Jones C, Hansen J, Blair E, Hofmann B, Siebert R, Turner G, Evans DG, Schrander-Stumpel C, Beemer FA, van Den Ouweland A, Halley D, Delpech B, Cleveland MG, 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 SA, Rasmussen SA, Zhang J and Wallace MR.
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 PJ, Chapman P, Lakhani SR, Burn J and Stratton MR.
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 PJ, Wooster R, Ford D, Chapman P, Mangion J, Quirk Y, Easton DF, Burn J and Stratton MR.
Journal Nat. Genet. 11 (4), 441-443 (1995)

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