Citations for
1CHSY1, TPBS
Temtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signaling.
Li Y, Laue K, Temtamy S, Aglan M, Kotan LD, Yigit G, Canan H, Pawlik B, Nürnberg G, Wakeling EL, Quarrell OW, Baessmann I, Lanktree MB, Yilmaz M, Hegele RA, Amr K, May KW, Nürnberg P, Topaloglu AK, Hammerschmidt M, Wollnik B.
Am J Hum Genet 87(6):757-67.PMID: 21129728 2010
2CHSY1, TPBS
Loss of CHSY1, a secreted FRINGE enzyme, causes syndromic brachydactyly in humans via increased NOTCH signaling.
Tian J, Ling L, Shboul M, Lee H, O'Connor B, Merriman B, Nelson SF, Cool S, Ababneh OH, Al-Hadidy A, Masri A, Hamamy H, Reversade B.
Am J Hum Genet 87(6):768-78.PMID: 21129727 2010
3CHPF2, CHSY1, CHSY3
Identification of chondroitin sulfate glucuronyltransferase as chondroitin synthase-3 involved in chondroitin polymerization: chondroitin polymerization is achieved by multiple enzyme complexes consisting of chondroitin synthase family members.
Izumikawa T, Koike T, Shiozawa S, Sugahara K, Tamura J, Kitagawa H.
J Biol Chem 283(17):11396-406. Epub 2008 Mar 3. 2008
4CHPF, CHSY1, CHSY3
Involvement of chondroitin sulfate synthase-3 (chondroitin synthase-2) in chondroitin polymerization through its interaction with chondroitin synthase-1 or chondroitin-polymerizing factor.
Izumikawa T, Uyama T, Okuura Y, Sugahara K, Kitagawa H.
Biochem J 403(3):545-52. 2007
5CHPF, CHSY1
Molecular cloning of a chondroitin polymerizing factor that cooperates with chondroitin synthase for chondroitin polymerization.
Kitagawa H, Izumikawa T, Uyama T, Sugahara K.
J Biol Chem 278(26):23666-71. Epub 2003 Apr 25. 2003
6CHPF, CHSY1
Chondroitin sulfate synthase-2. Molecular cloning and characterization of a novel human glycosyltransferase homologous to chondroitin sulfate glucuronyltransferase, which has dual enzymatic activities.
Yada T, Gotoh M, Sato T, Shionyu M, Go M, Kaseyama H, Iwasaki H, Kikuchi N, Kwon YD, Togayachi A, Kudo T, Watanabe H, Narimatsu H, Kimata K.
J Biol Chem 278(32):30235-47. Epub 2003 May 20. 2003
7ACPL2, ALKAL1, ALKAL2, ALKBH7, AMICA1, APOO, B4GALT4, BRD9, BTNL3, C10orf99, C17orf48, C19orf41, C1QTNF6, C1orf56, C1orf91, C2orf66, CA11, CCBE1, CCDC126, CD276, CHODL, CHRDL2, CHSY1, CLEC2A, COLEC10, COLEC11, CYP20A1, DEFB123, DHRS13, DPEP2, DPEP3, EMC10, ESPNL, FAM174A, FAM20A, FAM55D, FKBP7, GLT8D2, GNP3, GOLT1B, GPN2, GPR78, GRAMD1B, HEPACAM2, HSD17B13, IL17RE, IL22RA1, LRRC28, LYPD2, MPZL2, NXPH1, NXPH2, NXPH3, NXPH4, OLFML1, PAOX, PATE-M, PEF1, PLXNA4, RELL2, SARAF, SCRG1, SHISA4, SIDT2, SLC35E3, SLC35F5, SLITRK1, SPOCK3, SPON2, SUSD1, SUSD2, SUSD3, TEX101, TMCO1, TMEM50A, TMEM9B, TMPRSS4, TMPRSS6, TRHDE, TTC14, UNQ9391, WFIKKN2, YME1L1, ZDHHC24
The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.
Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J, Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D, Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS, Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M, Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J, Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard A, Wood WI, Godowski P, Gray A.
Genome Res 13(10):2265-70. Epub 2003 Sep 15. Erratum in: Genome Res. 2003 Dec;13(12):2759. 2003
8CHSY1, CSGALNACT1
Molecular cloning and expression of a human chondroitin synthase.
Kitagawa H, Uyama T, Sugahara K.
J Biol Chem 276(42):38721-6. Epub 2001 Aug 20. 2001
9AKAP2, AMOTL2, ANKRD6, ARSG, ASXL1, ATG4B, BAHD1, BIRC6, BTBD3, C6orf84, CAMK2A, CAMKK2, CARD8, CHSY1, CORO2A, CPEB3, DIP2C, DLGAP4, DNAJC16, DNAJC9, DZIP1, EFR3B, EXOC6B, FAIM2, FASTKD2, FNBP4, INPP5F, LRCH1, NLGN4Y, NLRP1, NRXN2, PADI2, PCNX, PDS5B, PLEKHA6, PSD3, R3HDM2, RPH3A, SBNO2, SEZ6L, STK38L, TBC1D30, THOC5, TLL2, USP20, ZBTB1, ZFP30
Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.
Nagase T, Ishikawa K, Suyama M, Kikuno R, Hirosawa M, Miyajima N, Tanaka A,Kotani H, Nomura N, Ohara O.
DNA Res 6(1):63-70. 1999