| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
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 |
Pathways and Diseases | |
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 |
External Links | |
Links to Entrez Gene | 2131 |
Links to all GeneRIF Items | 2131 |
Links to iHOP | 2131 |
Sequence Information | |
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 |