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- Table of Contents
Facts about Exostosin-1.
Appears to be a tumor suppressor. Required for the exosomal release of SDCBP, CD63 and syndecan (PubMed:22660413).
Human | |
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Gene Name: | EXT1 |
Uniprot: | Q16394 |
Entrez: | 2131 |
Belongs to: |
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glycosyltransferase 47 family |
EC 2.4.1.224; EC 2.4.1.225; exostoses (multiple) 1; Exostosin 1; exostosin-1; EXT; EXT1; Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase; Glucuronosyl-N-acetylglucosaminyl-proteoglycan/N-acetylglucosaminyl-proteoglycan4-alpha-N-acetylglucosaminyltransferase; Langer-Giedion syndrome chromosome region; LGCR; LGS; Multiple exostoses protein 1; N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase; Putative tumor suppressor protein EXT1; TRPS2; TTV
Mass (kDA):
86.255 kDA
Human | |
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Location: | 8q24.11 |
Sequence: | 8; NC_000008.11 (117794490..118111826, complement) |
Ubiquitous.
Endoplasmic reticulum membrane; Single-pass type II membrane protein. Golgi apparatus membrane; Single-pass type II membrane protein. The EXT1/EXT2 complex is localized in the Golgi apparatus.
PMID: 7550340 by Ahn J., et al. Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1).
PMID: 9119404 by Luedecke H.-J., et al. Genomic organization and promoter structure of the human EXT1 gene.