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| General information | Expression | Regulation | Mutation | Interaction |
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Basic Information |
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|---|---|
Gene ID | 2131 |
Name | EXT1 |
Synonym | EXT|LGCR|LGS|TRPS2|TTV;exostosin 1;EXT1;exostosin 1 |
Definition | 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-acetylgluc |
Position | 8q24.11 |
Gene Type | protein-coding |
Source | Count: 4; Pubmed_search,TAG,Generif,UniProt |
Literature support | Count: 6 PubMed records as below. |
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Evidence Status |
Description |
reviewed | "The tumor suppressor gene EXT1 is involved in the formation of multiple osteochondromas, which can progress to become secondary peripheral chondrosarcomas." |
reviewed | Functional conservation of the human EXT1 tumor suppressor gene and its Drosophila homolog tout velu. |
reviewed | EXT1 functions as a classical tumor suppressor gene in the cartilage cap of nonhereditary osteochondromas. |
reviewed | Epigenetic loss of the familial tumor-suppressor gene exostosin-1 (EXT1) disrupts heparan sulfate synthesis in cancer cells. |
potential | The link between heparan sulfate and hereditary bone disease: finding a function for the EXT family of putative tumor suppressor proteins. |
potential | Diminished levels of the putative tumor suppressor proteins EXT1 and EXT2 in exostosis chondrocytes. |
| More detail of all 6 literatures about EXT1 | |
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Pathways and Diseases |
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Pathway | Glycosaminoglycan biosynthesis - heparan sulfate;KEGG PATHWAY;hsa00534 |
Pathway | heparan sulfate biosynthesis;BioCyc;PWY-6564 |
Pathway | heparan sulfate biosynthesis (late stages);BioCyc;PWY-6558 |
Pathway | Metabolic pathways;KEGG PATHWAY;hsa01100 |
Disease | Height;NHGRI |
Disease | Embryoma;FunDO |
Disease | Autistic disorder;FunDO |
Disease | Genetic disorders;KEGG DISEASE |
Disease | Bone disease;FunDO |
Disease | Chondrosarcoma;OMIM |
Disease | DEVELOPMENTAL;GAD |
Disease | Congenital abnormality;FunDO |
Disease | Exostoses, multiple, type 1;OMIM |
Disease | Multiple exostoses;KEGG DISEASE;H00122 |
Disease | height;GAD |
Disease | Inherited disorders of glycan/glycoprotein metabolism;KEGG DISEASE |
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External Links |
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Links to Entrez Gene | 2131 |
Links to all GeneRIF Items | 2131 |
Links to iHOP | 2131 |
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Sequence Information |
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Nucleotide Sequence |
>2131 : length: 2241 atgcaggccaaaaaacgctatttcatcctgctctcagctggctcttgtctcgcccttttg ttttatttcggaggcttgcagtttagggcatcgaggagccacagccggagagaagaacac agcggtaggaatggcttgcaccaccccagtccggatcatttctggccccgcttcccggac gctctgcgccccttcgttccttgggatcaattggaaaacgaggattccagcgtgcacatt 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 |
Protein Sequence |
>2131 : length: 746 MQAKKRYFILLSAGSCLALLFYFGGLQFRASRSHSRREEHSGRNGLHHPSPDHFWPRFPD ALRPFVPWDQLENEDSSVHISPRQKRDANSSIYKGKKCRMESCFDFTLCKKNGFKVYVYP QQKGEKIAESYQNILAAIEGSRFYTSDPSQACLFVLSLDTLDRDQLSPQYVHNLRSKVQS LHLWNNGRNHLIFNLYSGTWPDYTEDVGFDIGQAMLAKASISTENFRPNFDVSIPLFSKD HPRTGGERGFLKFNTIPPLRKYMLVFKGKRYLTGIGSDTRNALYHVHNGEDVVLLTTCKH GKDWQKHKDSRCDRDNTEYEKYDYREMLHNATFCLVPRGRRLGSFRFLEALQAACVPVML SNGWELPFSEVINWNQAAVIGDERLLLQIPSTIRSIHQDKILALRQQTQFLWEAYFSSVE KIVLTTLEIIQDRIFKHISRNSLIWNKHPGGLFVLPQYSSYLGDFPYYYANLGLKPPSKF TAVIHAVTPLVSQSQPVLKLLVAAAKSQYCAQIIVLWNCDKPLPAKHRWPATAVPVVVIE GESKVMSSRFLPYDNIITDAVLSLDEDTVLSTTEVDFAFTVWQSFPERIVGYPARSHFWD NSKERWGYTSKWTNDYSMVLTGAAIYHKYYHYLYSHYLPASLKNMVDQLANCEDILMNFL VSAVTKLPPIKVTQKKQYKETMMGQTSRASRWADPDHFAQRQSCMNTFASWFGYMPLIHS QMRLDPVLFKDQVSILRKKYRDIERL |