MGP Database

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MGP001000

Record overview

MGPD IDMGP001000
Gene ID2131
SpeciesHomo sapiens (Human)
Gene Nameexostosin glycosyltransferase 1
Gene Symbol EXT1
SynonymsEXT; LGS; TTV; LGCR; TRPS2;
Alternate namesexostosin-1; Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase; Langer-Giedion syndrome chromosome region; N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase; exostoses (multiple) 1; exostosin 1; glucuronosyl-N-acetylglucosaminyl-proteoglycan/N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase; multiple exostoses protein 1; putative tumor suppressor protein EXT1;
Chromosome8
Map Location8q24.11
EC Number2.4.1.224
SummaryThis gene encodes an endoplasmic reticulum-resident type II transmembrane glycosyltransferase involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type I form of multiple exostoses. [provided by RefSeq, Jul 2008]
OrthologsView orthologs and multiple alignments for EXT1

Proteins

exostosin-1
Refseq ID:NP_000118
Protein GI:46370066
UniProt ID:Q16394
mRNA ID:NM_000127
Length:746
RefSeq Status:
MQAKKRYFILLSAGSCLALLFYFGGLQFRASRSHSRREEHSGRNGLHHPSPDHFWPRFPDALRPFVPWDQLENEDSSVHISPRQKRDANSSIYKGKKCRM
ESCFDFTLCKKNGFKVYVYPQQKGEKIAESYQNILAAIEGSRFYTSDPSQACLFVLSLDTLDRDQLSPQYVHNLRSKVQSLHLWNNGRNHLIFNLYSGTW
PDYTEDVGFDIGQAMLAKASISTENFRPNFDVSIPLFSKDHPRTGGERGFLKFNTIPPLRKYMLVFKGKRYLTGIGSDTRNALYHVHNGEDVVLLTTCKH
GKDWQKHKDSRCDRDNTEYEKYDYREMLHNATFCLVPRGRRLGSFRFLEALQAACVPVMLSNGWELPFSEVINWNQAAVIGDERLLLQIPSTIRSIHQDK
ILALRQQTQFLWEAYFSSVEKIVLTTLEIIQDRIFKHISRNSLIWNKHPGGLFVLPQYSSYLGDFPYYYANLGLKPPSKFTAVIHAVTPLVSQSQPVLKL
LVAAAKSQYCAQIIVLWNCDKPLPAKHRWPATAVPVVVIEGESKVMSSRFLPYDNIITDAVLSLDEDTVLSTTEVDFAFTVWQSFPERIVGYPARSHFWD
NSKERWGYTSKWTNDYSMVLTGAAIYHKYYHYLYSHYLPASLKNMVDQLANCEDILMNFLVSAVTKLPPIKVTQKKQYKETMMGQTSRASRWADPDHFAQ
RQSCMNTFASWFGYMPLIHSQMRLDPVLFKDQVSILRKKYRDIERL
 
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