Bioinformatics and Systems Medicine Laboratory
General information | Expression | Regulation | Mutation | Interaction

Basic Information

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.

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

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

External Links

Links to Entrez Gene

2134

Links to all GeneRIF Items

2134

Links to iHOP

2134

Sequence Information

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



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