Showing Protein Exostosin-1 (HMDBP01699)

• 7037

1. Glucuronosyl-N-acetylglucosaminyl-proteoglycan/N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase
2. Multiple exostoses protein 1
3. Putative tumor suppressor protein EXT1

• Glycosaminoglycan biosynthesis - heparan sulfate / heparin
• protein glycosylation

1. Golgi apparatus membrane
2. Endoplasmic reticulum membrane
3. Single-pass type II membrane protein
4. Single-pass type II membrane protein

>2241 bp
ATGCAGGCCAAAAAACGCTATTTCATCCTGCTCTCAGCTGGCTCTTGTCTCGCCCTTTTG
TTTTATTTCGGAGGCTTGCAGTTTAGGGCATCGAGGAGCCACAGCCGGAGAGAAGAACAC
AGCGGTAGGAATGGCTTGCACCACCCCAGTCCGGATCATTTCTGGCCCCGCTTCCCGGAG
CCTCTGCGCCCCTTCGTTCCTTGGGATCAATTGGAAAACGAGGATTCCAGCGTGCACATT
TCCCCCCGGCAGAAGCGAGATGCCAACTCCAGCATCTACAAAGGCAAGAAGTGCCGCATG
GAGTCCTGCTTCGATTTCACCCTTTGCAAGAAAAACGGCTTCAAAGTCTACGTATACCCA
CAGCAAAAAGGGGAGAAAATCGCCGAAAGTTACCAAAACATTCTAGCGGCCATCGAGGGC
TCCAGGTTCTACACCTCGGACCCCAGCCAGGCGTGCCTCTTTGTCCTGAGTCTGGATACT
TTAGACAGAGACCAGTTGTCACCTCAGTATGTGCACAATTTGAGATCCAAAGTGCAGAGT
CTCCACTTGTGGAACAATGGTAGGAATCATTTAATTTTTAATTTATATTCCGGCACTTGG
CCTGACTACACCGAGGACGTGGGGTTTGACATCGGCCAGGCGATGCTGGCCAAAGCCAGC
ATCAGTACTGAAAACTTCCGACCCAACTTTGATGTTTCTATTCCCCTCTTTTCTAAGGAT
CATCCCAGGACAGGAGGGGAGAGGGGGTTTTTGAAGTTCAACACCATCCCTCCTCTCAGG
AAGTACATGCTGGTATTCAAGGGGAAGAGGTACCTGACAGGGATAGGATCAGACACCAGG
AATGCCTTATATCACGTCCATAACGGGGAGGACGTTGTGCTCCTCACCACCTGCAAGCAT
GGCAAAGACTGGCAAAAGCACAAGGATTCTCGCTGTGACAGAGACAACACCGAGTATGAG
AAGTATGATTATCGGGAAATGCTGCACAATGCCACTTTCTGTCTGGTTCCTCGTGGTCGC
AGGCTTGGGTCCTTCAGATTCCTGGAGGCTTTGCAGGCTGCCTGCGTCCCTGTGATGCTC
AGCAATGGATGGGAGTTGCCATTCTCTGAAGTGATTAATTGGAACCAAGCTGCCGTCATA
GGCGATGAGAGATTGTTATTACAGATTCCTTCTACAATCAGGTCTATTCATCAGGATAAA
ATCCTAGCACTTAGACAGCAGACACAATTCTTGTGGGAGGCTTATTTTTCTTCAGTTGAG
AAGATTGTATTAACTACACTAGAGATTATTCAGGACAGAATATTCAAGCACATATCACGT
AACAGTTTAATATGGAACAAACATCCTGGAGGATTGTTCGTACTACCACAGTATTCATCT
TATCTGGGAGATTTTCCTTACTACTATGCTAATTTAGGTTTAAAGCCCCCCTCCAAATTC
ACTGCAGTCATCCATGCGGTGACCCCCCTGGTCTCTCAGTCCCAGCCAGTGTTGAAGCTT
CTCGTGGCTGCAGCCAAGTCCCAGTACTGTGCCCAGATCATAGTTCTATGGAATTGTGAC
AAGCCCCTACCAGCCAAACACCGCTGGCCTGCCACTGCTGTGCCTGTCGTCGTCATTGAA
GGAGAGAGCAAGGTTATGAGCAGCCGTTTTCTGCCCTACGACAACATCATCACAGACGCC
GTGCTCAGCCTTGACGAGGACACGGTGCTTTCAACAACAGAGGTGGATTTCGCCTTCACA
GTGTGGCAGAGCTTCCCTGAGAGGATTGTGGGGTACCCCGCGCGCAGCCACTTCTGGGAT
AACTCTAAGGAGCGGTGGGGATACACATCAAAGTGGACGAACGACTACTCCATGGTGTTG
ACAGGAGCTGCTATTTACCACAAATATTATCACTACCTATACTCCCATTACCTGCCAGCC
AGCCTGAAGAACATGGTGGACCAATTGGCCAATTGTGAGGACATTCTCATGAACTTCCTG
GTGTCTGCTGTGACAAAATTGCCTCCAATCAAAGTGACCCAGAAGAAGCAGTATAAGGAG
ACAATGATGGGACAGACTTCTCGGGCTTCCCGTTGGGCTGACCCTGACCACTTTGCCCAG
CGACAGAGCTGCATGAATACGTTTGCCAGCTGGTTTGGCTACATGCCGCTGATCCACTCT
CAGATGAGGCTCGACCCCGTCCTCTTTAAAGACCAGGTCTCTATTTTGAGGAAGAAATAC
CGAGACATTGAGCGACTTTGA

• Exostosin (PF03016 )
• Glyco_transf_64 (PF09258 )

>Exostosin-1
MQAKKRYFILLSAGSCLALLFYFGGLQFRASRSHSRREEHSGRNGLHHPSPDHFWPRFPD
ALRPFVPWDQLENEDSSVHISPRQKRDANSSIYKGKKCRMESCFDFTLCKKNGFKVYVYP
QQKGEKIAESYQNILAAIEGSRFYTSDPSQACLFVLSLDTLDRDQLSPQYVHNLRSKVQS
LHLWNNGRNHLIFNLYSGTWPDYTEDVGFDIGQAMLAKASISTENFRPNFDVSIPLFSKD
HPRTGGERGFLKFNTIPPLRKYMLVFKGKRYLTGIGSDTRNALYHVHNGEDVVLLTTCKH
GKDWQKHKDSRCDRDNTEYEKYDYREMLHNATFCLVPRGRRLGSFRFLEALQAACVPVML
SNGWELPFSEVINWNQAAVIGDERLLLQIPSTIRSIHQDKILALRQQTQFLWEAYFSSVE
KIVLTTLEIIQDRIFKHISRNSLIWNKHPGGLFVLPQYSSYLGDFPYYYANLGLKPPSKF
TAVIHAVTPLVSQSQPVLKLLVAAAKSQYCAQIIVLWNCDKPLPAKHRWPATAVPVVVIE
GESKVMSSRFLPYDNIITDAVLSLDEDTVLSTTEVDFAFTVWQSFPERIVGYPARSHFWD
NSKERWGYTSKWTNDYSMVLTGAAIYHKYYHYLYSHYLPASLKNMVDQLANCEDILMNFL
VSAVTKLPPIKVTQKKQYKETMMGQTSRASRWADPDHFAQRQSCMNTFASWFGYMPLIHS
QMRLDPVLFKDQVSILRKKYRDIERL

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3. Ahn J, Ludecke HJ, Lindow S, Horton WA, Lee B, Wagner MJ, Horsthemke B, Wells DE: Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1). Nat Genet. 1995 Oct;11(2):137-43. [PubMed:7550340 ]
4. Ludecke HJ, Ahn J, Lin X, Hill A, Wagner MJ, Schomburg L, Horsthemke B, Wells DE: Genomic organization and promoter structure of the human EXT1 gene. Genomics. 1997 Mar 1;40(2):351-4. [PubMed:9119404 ]
5. Kobayashi S, Morimoto K, Shimizu T, Takahashi M, Kurosawa H, Shirasawa T: Association of EXT1 and EXT2, hereditary multiple exostoses gene products, in Golgi apparatus. Biochem Biophys Res Commun. 2000 Feb 24;268(3):860-7. [PubMed:10679296 ]
6. Duncan G, McCormick C, Tufaro F: The link between heparan sulfate and hereditary bone disease: finding a function for the EXT family of putative tumor suppressor proteins. J Clin Invest. 2001 Aug;108(4):511-6. [PubMed:11518722 ]
7. Wuyts W, Van Hul W: Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes. Hum Mutat. 2000;15(3):220-7. [PubMed:10679937 ]
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13. Xu L, Xia J, Jiang H, Zhou J, Li H, Wang D, Pan Q, Long Z, Fan C, Deng HX: Mutation analysis of hereditary multiple exostoses in the Chinese. Hum Genet. 1999 Jul-Aug;105(1-2):45-50. [PubMed:10480354 ]
14. Bernard MA, Hall CE, Hogue DA, Cole WG, Scott A, Snuggs MB, Clines GA, Ludecke HJ, Lovett M, Van Winkle WB, Hecht JT: Diminished levels of the putative tumor suppressor proteins EXT1 and EXT2 in exostosis chondrocytes. Cell Motil Cytoskeleton. 2001 Feb;48(2):149-62. [PubMed:11169766 ]
15. Cheung PK, McCormick C, Crawford BE, Esko JD, Tufaro F, Duncan G: Etiological point mutations in the hereditary multiple exostoses gene EXT1: a functional analysis of heparan sulfate polymerase activity. Am J Hum Genet. 2001 Jul;69(1):55-66. Epub 2001 Jun 5. [PubMed:11391482 ]