Homo sapiens cylindromatosis (turban tumor syndrome) (CYLD), transcript variant 3, mRNA.
| RefSeq Version | NM_001042412.1, 109637775 |
| Length | 8608 bp |
| Structure | linear |
| Update Date | 11-MAR-2011 |
| 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]. 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 | Exon (1) | 1..99 | Exon (2) | 1..99 | Exon (3) | 100..179 | Exon (4) | 180..806 | Exon (5) | 807..1109 | Exon (6) | 1110..1215 | Exon (7) | 1216..1314 | Exon (8) | 1315..1431 | Exon (9) | 1432..1811 | Exon (10) | 1812..1977 | Exon (11) | 1978..2119 | Exon (12) | 2120..2242 | Exon (13) | 2243..2334 | Exon (14) | 2335..2401 | Exon (15) | 2402..2534 | Exon (16) | 2535..2643 | Exon (17) | 2644..2762 | Exon (18) | 2763..2979 | Exon (19) | 2980..8591 |
| 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 |
| 203..204 | + | , a | dbSNP:67190903 |
| 389 | + | c, t | dbSNP:34564491 |
| 820 | + | a, g | dbSNP:12599808 |
| 1431 | + | , a | dbSNP:67074993 |
| 1766 | + | c, t | dbSNP:75757530 |
| 2533 | + | a, g | dbSNP:121908389 |
| 2565 | + | c, t | dbSNP:121908388 |
| 2705 | + | c, t | dbSNP:2066852 |
| 2891 | + | a, c | dbSNP:117347778 |
| 2899 | + | a, c | dbSNP:118122197 |
| 3099 | + | c, t | dbSNP:121908390 |
| 3211 | + | a, g | dbSNP:116979331 |
| 3252 | + | g, t | dbSNP:74822565 |
| 3400 | + | a, g | dbSNP:117713908 |
| complement(4001) | - | t, c | dbSNP:3743781 |
| 4005 | + | a, g | dbSNP:117537927 |
| 4237 | + | a, c | dbSNP:116971974 |
| 4286 | + | a, g | dbSNP:114552144 |
| 5264 | + | a, c | dbSNP:76274836 |
| 5269..5271 | + | , gga | dbSNP:75414200 |
| 5271 | + | , a | dbSNP:111804189 |
| 5272 | + | a, g | dbSNP:79868875 |
| 5284..5286 | + | , aaa | dbSNP:74757288 |
| 5286 | + | a, g | dbSNP:117053677 |
| 5288 | + | a, g | dbSNP:118042635 |
| 5400 | + | c, t | dbSNP:57638820 |
| 5499 | + | c, t | dbSNP:9646285 |
| 5533 | + | a, g | dbSNP:16948829 |
| 5840 | + | a, c | dbSNP:76888453 |
| 6403 | + | a, g | dbSNP:34088926 |
| 6633 | + | c, t | dbSNP:111951225 |
| 6903 | + | c, g | dbSNP:16948836 |
| 7725 | + | a, g | dbSNP:17314948 |
| 7731 | + | c, t | dbSNP:113748745 |
| 7779..7780 | + | , g | dbSNP:34262697 |
| Gene Symbol | CYLD |
| Gene Synonym | CDMT; CYLD1; CYLDI; EAC; FLJ20180; FLJ31664; FLJ78684; HSPC057; KIAA0849; MFT; MFT1; SBS; TEM; USPL2 |
| Chromosome | 16 |
| Locus Map | 16q12.1 |
| All Transcripts | NM_001042412 , NM_001042355 , NM_015247 |
| Title | An inactivating CYLD mutation promotes skin tumor progression by conferring enhanced proliferative, survival and angiogenic properties to epidermal cancer cells . |
| Author | Alameda,J.P., Moreno-Maldonado,R., Navarro,M., Bravo,A., Ramirez,A., Page,A., Jorcano,J.L., Fernandez-Acenero,M.J. and Casanova,M.L. |
| Journal | Oncogene 29 (50), 6522-6532 (2010) |
| Title | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study . |
| Author | Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V., Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S. |
| Journal | Diabetes Care 33 (10), 2250-2253 (2010) |
| Title | The Notch/Hes1 pathway sustains NF-kappaB activation through CYLD repression in T cell leukemia . |
| Author | Espinosa,L., Cathelin,S., D'Altri,T., Trimarchi,T., Statnikov,A., Guiu,J., Rodilla,V., Ingles-Esteve,J., Nomdedeu,J., Bellosillo,B., Besses,C., Abdel-Wahab,O., Kucine,N., Sun,S.C., Song,G., Mullighan,C.C., Levine,R.L., Rajewsky,K., Aifantis,I. and Bigas,A. |
| Journal | Cancer Cell 18 (3), 268-281 (2010) |
| Title | STAT3 activation of miR-21 and miR-181b-1 via PTEN and CYLD are part of the epigenetic switch linking inflammation to cancer . |
| Author | Iliopoulos,D., Jaeger,S.A., Hirsch,H.A., Bulyk,M.L. and Struhl,K. |
| Journal | Mol. Cell 39 (4), 493-506 (2010) |
| Title | Frameshift mutations of ATBF1, WNT9A, CYLD and PARK2 in gastric and colorectal carcinomas with high microsatellite instability . |
| Author | An,C.H., Kim,S.S., Kang,M.R., Kim,Y.R., Kim,H.S., Yoo,N.J. and Lee,S.H. |
| Journal | Pathology 42 (6), 583-585 (2010) |
| 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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