Sequence of this protein is as follows: MQAKKRYFIL LSAGSCLALL FYFGGLQFRA SRSHSRREEH SGRNGLHHPS PDHFWPRFPD ALRPFVPWDQ LENEDSSVHI SPRQKRDANS SIYKGKKCRM ESCFDFTLCK KNGFKVYVYP QQKGEKIAES YQNILAAIEG SRFYTSDPSQ ACLFVLSLDT LDRDQLSPQY VHNLRSKVQS LHLWNNGRNH LIFNLYSGTW PDYTEDVGFD IGQAMLAKAS ISTENFRPNF DVSIPLFSKD HPRTGGERGF LKFNTIPPLR KYMLVFKGKR YLTGIGSDTR NALYHVHNGE DVVLLTTCKH GKDWQKHKDS RCDRDNTEYE KYDYREMLHN ATFCLVPRGR RLGSFRFLEA LQAACVPVML SNGWELPFSE VINWNQAAVI GDERLLLQIP STIRSIHQDK ILALRQQTQF LWEAYFSSVE KIVLTTLEII QDRIFKHISR NSLIWNKHPG GLFVLPQYSS YLGDFPYYYA NLGLKPPSKF TAVIHAVTPL VSQSQPVLKL LVAAAKSQYC AQIIVLWNCD KPLPAKHRWP ATAVPVVVIE GESKVMSSRF LPYDNIITDA VLSLDEDTVL STTEVDFAFT VWQSFPERIV GYPARSHFWD NSKERWGYTS KWTNDYSMVL TGAAIYHKYY HYLYSHYLPA SLKNMVDQLA NCEDILMNFL VSAVTKLPPI KVTQKKQYKE TMMGQTSRAS RWADPDHFAQ RQSCMNTFAS WFGYMPLIHS QMRLDPVLFK DQVSILRKKY RDIERL
Hereditary multiple exostoses (HME) is an autosomal dominant disorder characterized by the formation of exostoses (EXT), which are cartilage-capped bony protuberances mainly located on long bones. Two proteins associated with EXT, EXT1 and EXT2, form homo/heteromeric complexes in vivo, which leads to the accumulation of both proteins in the Golgi apparatus. EXT1 and EXT2 are endoplasmic reticulum-localized type II transmembrane glycoproteins that possess, or are tightly associated with, glycosyltransferase activities involved in the polymerization of the glycosaminoglycan, heparan sulfate (HS). EXT2 is a protein that harbors the D-glucuronyl (GlcA) and N-acetyl-D-glucosaminyl (GlcNAc) transferase activities required for biosynthesis of HS. EXT1 rescues defective HS biosynthesis and elevates low GlcA and GlcNAc transferase levels in mutated cells.
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Protein Aliases: exostoses (multiple) 1; exostosin 1; Exostosin-1; Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase; Glucuronosyl-N-acetylglucosaminyl-proteoglycan/N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase; Langer-Giedion syndrome chromosome region; Multiple exostoses protein 1; N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase; Putative tumor suppressor protein EXT1
Gene Aliases: EXT; EXT1; LGCR; LGS; TRPS2; TTV
UniProt ID: (Human) Q16394
Entrez Gene ID: (Human) 2131