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| General information | Expression | Regulation | Mutation | Interaction |
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Basic Information |
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|---|---|
Gene ID | 2134 |
Name | EXTL1 |
Synonym | EXTL;exostoses (multiple)-like 1;EXTL1;exostoses (multiple)-like 1 |
Definition | alpha-N-acetylglucosaminyltransferase II|exostosin-L|exostosin-like 1|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase|glucuronyl |
Position | 1p36.1 |
Gene Type | protein-coding |
Source | Count: 2; TAG,Generif |
Literature support | Count: 3 PubMed records as below. |
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Evidence Status |
Description |
potential | Molecular analysis of the putative tumour-suppressor gene EXTL1 in neuroblastoma patients and cell lines. |
reviewed | "The tumor suppressors EXT1 and EXT2 are associated with hereditary multiple exostoses and encode bifunctional glycosyltransferases essential for chain polymerization of heparan sulfate (HS) and its analog, heparin (Hep). ". |
reviewed | "Recently, the EXTL1 gene, a member of the EXT tumor suppressor gene family, has been mapped to 1p36, a chromosome region which is frequently implicated in a wide variety of malignancies, including breast carcinoma, colorectal cancer and neuroblastoma. ". |
| More detail of all 3 literatures about EXTL1 | |
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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 |
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External Links |
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Links to Entrez Gene | 2134 |
Links to all GeneRIF Items | 2134 |
Links to iHOP | 2134 |
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Sequence Information |
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Nucleotide Sequence |
>2134 : length: 2031 atgcagtcgtggaggagaagaaagtccctgtggctggcactgtcagcctcctggctcctg cttgtcctgctgggaggcttctcccttctccgcctggcattgcctcccagacctcggccc ggggcttcccaaggctggccccgctggctggatgcagagctcctgcagagcttctcccag cctggagagctcccagaagatgccgtttcacctcctcaagcccctcatggtggcagctgc aactgggaatcttgctttgatacctcaaagtgcaggggcgatggccttaaggtattcgtg tacccagcggttggaaccatctctgagactcatcgcaggatcctggcttccattgagggc tctcgcttctacacattcagccctgctggggcctgcctcctcctcctcctcagcctggac gcccagactggagagtgcagctcaatgcctctgcaatggaacaggggcaggaaccatctg gtcctccgtctccacccggctccctgccccaggaccttccagctgggacaggctatggtg gctgaggccagccccacggtggactccttccggcccggctttgatgtggccctccctttt ctccctgaagcccacccgttgcgaggtggggctcctggccagctgcggcaacacagcccc cagcccggggtagccctgctagccctggaagaggagaggggtgggtggcgcacagcagac actggctcctctgcctgcccctgggatgggcgctgtgagcaagaccctggacctgggcag acccagcgccaggagacgctgcccaatgccaccttctgcctcatctctggccaccgtccc gaggctgcctcgcgcttcctccaagccctgcaggccggctgcatcccagtgcttctcagc ccccgctgggagctgcccttctccgaggtcatcgactggaccaaggcagccatcgtagct gatgagaggctcccacttcaggtcctggctgccctccaggagatgtcccctgcacgggtc ctcgccctgcgtcagcagacccagtttctatgggatgcctacttctcctcagtggagaag gtcatccataccactctggaggttattcaggaccggatttttggaacatcagctcacccc tcactgctgtggaacagccccccaggggcactcctggccctgtctactttttccacaagc ccccaggacttccccttctactacctgcaacagggctcccgccctgagggcagattcagc gccctgatctgggtggggcccccaggccagccccctctgaagctcatccaggcggtggca ggctcccagcactgtgcccagatcttggttctctggagcaatgagaggccactcccatcc aggtggccggagacagctgtgcccttgacagtcattgatgggcacaggaaggttagtgat cgcttctacccatatagcaccatcagaacagatgccatcctcagcctcgatgcccgcagc agtctttccacaagtgaggtggactttgcctttctggtgtggcagagcttcccagagcgg atggtgggcttcctgacgtcgagccatttctgggacgaggcccatggtggctggggctac actgctgagaggaccaacgaattctccatggttctcaccacagccgccttctaccatagg tattaccacactctcttcacccactccctgcccaaggctctgaggaccctggcagatgag gcacccacctgtgtggacgtcctgatgaatttcatagtagcagcagtcaccaagctgccc cctatcaaggtgccctatggcaagcagcgccaggaggctgctccactggcgcctgggggc ccggggcccaggccaaagccgcctgccccagcccccgactgcatcaaccagatagcggca gcgttcggccacatgcccttgctgtcctctcgtctgcgtctggacccggtgctgtttaag gacccggtgtccgtgcagcgcaagaagtaccgcagcctggagaagccctag |
Protein Sequence |
>2134 : length: 676 MQSWRRRKSLWLALSASWLLLVLLGGFSLLRLALPPRPRPGASQGWPRWLDAELLQSFSQ PGELPEDAVSPPQAPHGGSCNWESCFDTSKCRGDGLKVFVYPAVGTISETHRRILASIEG SRFYTFSPAGACLLLLLSLDAQTGECSSMPLQWNRGRNHLVLRLHPAPCPRTFQLGQAMV AEASPTVDSFRPGFDVALPFLPEAHPLRGGAPGQLRQHSPQPGVALLALEEERGGWRTAD TGSSACPWDGRCEQDPGPGQTQRQETLPNATFCLISGHRPEAASRFLQALQAGCIPVLLS PRWELPFSEVIDWTKAAIVADERLPLQVLAALQEMSPARVLALRQQTQFLWDAYFSSVEK VIHTTLEVIQDRIFGTSAHPSLLWNSPPGALLALSTFSTSPQDFPFYYLQQGSRPEGRFS ALIWVGPPGQPPLKLIQAVAGSQHCAQILVLWSNERPLPSRWPETAVPLTVIDGHRKVSD RFYPYSTIRTDAILSLDARSSLSTSEVDFAFLVWQSFPERMVGFLTSSHFWDEAHGGWGY TAERTNEFSMVLTTAAFYHRYYHTLFTHSLPKALRTLADEAPTCVDVLMNFIVAAVTKLP PIKVPYGKQRQEAAPLAPGGPGPRPKPPAPAPDCINQIAAAFGHMPLLSSRLRLDPVLFK DPVSVQRKKYRSLEKP |