QuickView for EXT1 (gene)

Gene Symbol:

EXT1 Homo sapiens

Full name:

exostosin glycosyltransferase 1

Synonyms:

EXT, LGCR, LGS, TRPS2, TTV, exostosin-1, Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase, Langer-Giedion syndrome chromosome region, N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase, exostoses (multiple) 1, glucuronosyl-N-acetylglucosaminyl-proteoglycan/N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase, multiple exostoses protein 1, putative tumor suppressor protein EXT1

Genomic Location:

Chr 8: 118880783-119193239

Description:

This 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.

This 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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  D. melanogaster ,  C. elegans ,  Macaca mulatta ,  Gallus gallus ,  Pan troglodytes ,  Canis lupus familiaris ,  Danio rerio ,  Bos taurus

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

NFAT_Q4_01 ,  TGGAAA_NFAT_Q4_01 ,  NFMUE1_Q6 ,  RTAAACA_FREAC2_01 ,  FOX_Q2 ,  FOXO4_01 ,  SYATTGTG_UNKNOWN ,  CTATGCA_MIR153 ,  EVI1_04 ,  WGTTNNNNNAAA_UNKNOWN ,  ATGGYGGA_UNKNOWN ,  COMP1_01 ,  CDPCR3HD_01 ,  CAGGTG_E12_Q6 ,  CDPCR1_01 ,  GGGCGGR_SP1_Q6 ,  GTGCCAA_MIR96 ,  FOXO1_01 ,  IRF_Q6 ,  GCM_Q2 ,  RNGTGGGC_UNKNOWN ,  FREAC2_01 ,  TTGTTT_FOXO4_01 ,  YY1_02 ,  STAT5A_04 ,  GAGCCAG_MIR149 ,  AACTTT_UNKNOWN

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miRNA binding sites
(Source: TargetScan):

Predicted Gene Targets for miR-153 ,  Predicted Gene Targets for miR-96 ,  Predicted Gene Targets for miR-149

Cytogenetic Map:

8q24.11

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