You are using an unsupported browser. Please upgrade your browser to a newer version to get the best experience on Human Metabolome Database.
Identification
HMDB Protein ID HMDBP01701
Secondary Accession Numbers
  • 7039
Name Exostosin-like 3
Synonyms
  1. EXT-related protein 1
  2. Glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase
  3. Hereditary multiple exostoses gene isolog
  4. Multiple exostosis-like protein 3
  5. Putative tumor suppressor protein EXTL3
Gene Name EXTL3
Protein Type Enzyme
Biological Properties
General Function Involved in glucuronyl-galactosyl-proteoglycan 4-alpha-
Specific Function Probable glycosyltransferase (By similarity).
Pathways
  • Glycosaminoglycan biosynthesis - heparan sulfate / heparin
  • heparan sulfate biosynthesis
Reactions
Uridine diphosphate-N-acetylglucosamine + beta-D-glucuronosyl-(1->3)-beta-D-galactosyl-(1->3)-beta-D-galactosyl-(1->4)-beta-D-xylosyl-proteoglycan → Uridine 5'-diphosphate + alpha-N-acetyl-D-glucosaminyl-(1->4)-beta-D-glucuronosyl-(1->3)-beta-D-galactosyl-(1->3)-beta-D-galactosyl-(1->4)-beta-D-xylosyl-proteoglycan details
UDP-N-acetyl-D-glucosamine + → UDP + details
UDP-N-acetyl-D-glucosamine + → UDP + details
GO Classification
Biological Process
heparan sulfate proteoglycan biosynthetic process
positive regulation of cell growth
activation of signaling protein activity involved in unfolded protein response
Cellular Component
endoplasmic reticulum membrane
intrinsic to endoplasmic reticulum membrane
integral to membrane
Component
membrane
cell part
membrane part
intrinsic to membrane
intrinsic to organelle membrane
intrinsic to endoplasmic reticulum membrane
Function
catalytic activity
transferase activity
transferase activity, transferring hexosyl groups
transferase activity, transferring glycosyl groups
Molecular Function
metal ion binding
glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity
Cellular Location
  1. Endoplasmic reticulum membrane
  2. Single-pass type II membrane protein
Gene Properties
Chromosome Location 8
Locus 8p21
SNPs EXTL3
Gene Sequence
>2760 bp
ATGACAGGCTATACCATGCTGCGGAATGGGGGCGCGGGGAACGGAGGTCAGACCTGCATG
CTGCGCTGGTCCAACCGCATCCGCCTCACGTGGCTCAGCTTCACGCTCTTTGTCATCCTG
GTCTTCTTCCCGCTCATCGCCCACTATTACCTCACCACTCTGGATGAGGCTGATGAGGCA
GGCAAGCGGATTTTTGGTCCCCGGGTGGGGAACGAGCTGTGCGAGGTGAAGCACGTGCTG
GATCTGTGCCGCATCCGGGAGTCGGTGAGTGAAGAGCTCCTGCAGCTGGAGGCCAAGCGC
CAAGAGCTGAACAGCGAGATCGCCAAGCTGAATCTGAAGATCGAAGCCTGTAAGAAGAGC
ATTGAGAACGCCAAGCAGGACCTGCTCCAGCTCAAGAATGTCATCAGCCAGACCGAGCAT
TCCTACAAGGAGCTCATGGCCCAGAACCAGCCCAAGCTGTCCCTGCCCATCCGACTGCTC
CCAGAGAAGGACGATGCCGGCCTCCCTCCCCCGAAGGCCACTCGGGGCTGCCGGCTACAC
AACTGCTTTGATTATTCTCGTTGCCCTCTCACCTCTGGCTTCCCGGTCTACGTCTATGAC
AGTGACCAGTTTGTCTTTGGCAGCTACCTGGATCCCTTGGTCAAGCAGGCTTTTCAGGCG
ACAGCACGAGCTAACGTTTATGTTACAGAAAATGCAGACATCGCCTGCCTTTACGTGATA
CTAGTGGGAGAGATGCAGGAGCCCGTGGTGCTGCGGCCTGCTGAGCTGGAGAAGCAGTTG
TATTCCCTGCCACACTGGCGGACGGATGGACACAACCATGTCATCATCAATCTGTCACGT
AAGTCAGATACACAGAACCTTCTCTATAACGTCAGTACTGGCCGTGCCATGGTGGCCCAG
TCCACCTTCTACACTGTCCAGTACAGACCTGGCTTTGACTTGGTCGTATCACCGCTGGTC
CATGCCATGTCTGAGCCCAACTTCATGGAAATCCCACCACAGGTGCCGGTGAAGCGGAAA
TATCTCTTCACCTTCCAGGGCGAGAAGATTGAGTCTCTGAGGTCTAGCCTTCAGGAGGCC
CGCTCCTTCGAAGAGGAAATGGAGGGCGACCCTCCCGCCGACTACGATGACCGGATCATT
GCCACCCTGAAGGCGGTGCAGGACAGCAAGCTGGATCAGGTCCTGGTGGAATTCACCTGC
AAAAACCAGCCCAAACCCAGCCTGCCGACTGAGTGGGCACTGTGTGGAGAGCGGGAGGAC
CGCTTGGAATTGCTGAAGCTCTCCACCTTCGCCCTCATCATTACCCCCGGGGACCCTCGC
TTGGTTATTTCCTCTGGGTGTGCAACACGGCTCTTCGAAGCCCTGGAAGTCGGTGCCGTC
CCGGTGGTGCTGGGGGAGCAGGTCCAGCTTCCCTACCAGGACATGCTGCAGTGGAACGAG
GCGGCCCTGGTGGTGCCAAAGCCTCGTGTTACCGAGGTTCATTTCCTGCTCAGAAGCCTC
TCCGATAGTGACCTCCTGGCTATGAGGCGGCAAGGCCGCTTTCTCTGGGAGACTTACTTC
TCCACTGCTGACAGTATTTTTAATACCGTGCTGGCTATGATTAGGACTCGCATCCAGATC
CCAGCCGCTCCCATCCGGGAAGAGGCGGCAGCTGAGATCCCCCACCGTTCAGGCAAGGCG
GCTGGAACTGACCCCAACATGGCTGACAACGGGGACCTGGACCTGGGGCCAGTGGAGACG
GAGCCGCCCTACGCCTCACCCAGATACCTCCGCAATTTCACTCTGACTGTCACTGACTTT
TACCGCAGCTGGAACTGTGCTCCAGGGCCTTTCCATCTTTTCCCCCACACTCCCTTTGAC
CCTGTGTTGCCCTCAGAGGCCAAATTCTTGGGCTCAGGGACTGGCTTTCGGCCTATTGGT
GGTGGAGCTGGGGGTTCTGGCAAGGAATTTCAGGCAGCGCTTGGAGGCAATGTTCCCCGA
GAGCAGTTCACGGTGGTGATGTTGACTTATGAGCGGGAGGAAGTGCTTATGAACTCTTTA
GAGAGGCTGAATGGCCTCCCTTACCTGAACAAGGTCGTGGTGGTGTGGAATTCTCCCAAG
CTGCCATCAGAGGACCTTCTGTGGCCTGACATTGGCGTTCCCATCATGGTGGTCCGTACT
GAGAAGAACAGTTTGAACAACCGATTCTTACCCTGGAATGAAATTGAGACAGAGGCCATC
CTGTCCATTGATGACGATGCTCACCTCCGCCATGACGAAATCATGTTTGGGTTCCGGGTG
TGGAGAGAAGCTCGGGACCGCATCGTGGGCTTCCCTGGCCGTTACCACGCATGGGACATC
CCCCATCAGTCCTGGCTCTACAACTCCAACTACTCCTGTGAGCTGTCCATGGTGCTGACA
GGTGCTGCCTTCTTTCACAAGTATTATGCCTACCTGTATTCTTATGTGATGCCCCAGGCC
ATCCGGGACATGGTGGATGAATACATCAACTGTGAGGACATTGCCATGAACTTCCTTGTC
TCCCACATCACTCGGAAGCCCCCCATCAAGGTGACCTCACGGTGGACATTCCGATGCCCA
GGATGCCCTCAGGCCCTGTCTCATGATGACTCCCACTTCCACGAGCGGCACAAGTGCATC
AACTTCTTCGTGAAGGTGTACGGCTACATGCCCCTCCTGTACACGCAGTTCAGGGTGGAT
TCTGTGCTCTTCAAGACACGCCTGCCCCATGACAAGACCAAGTGCTTCAAGTTCATCTAG
Protein Properties
Number of Residues 919
Molecular Weight 104748.23
Theoretical pI 6.509
Pfam Domain Function
Signals Not Available
Transmembrane Regions Not Available
Protein Sequence
>Exostosin-like 3
MTGYTMLRNGGAGNGGQTCMLRWSNRIRLTWLSFTLFVILVFFPLIAHYYLTTLDEADEA
GKRIFGPRVGNELCEVKHVLDLCRIRESVSEELLQLEAKRQELNSEIAKLNLKIEACKKS
IENAKQDLLQLKNVISQTEHSYKELMAQNQPKLSLPIRLLPEKDDAGLPPPKATRGCRLH
NCFDYSRCPLTSGFPVYVYDSDQFVFGSYLDPLVKQAFQATARANVYVTENADIACLYVI
LVGEMQEPVVLRPAELEKQLYSLPHWRTDGHNHVIINLSRKSDTQNLLYNVSTGRAMVAQ
STFYTVQYRPGFDLVVSPLVHAMSEPNFMEIPPQVPVKRKYLFTFQGEKIESLRSSLQEA
RSFEEEMEGDPPADYDDRIIATLKAVQDSKLDQVLVEFTCKNQPKPSLPTEWALCGERED
RLELLKLSTFALIITPGDPRLVISSGCATRLFEALEVGAVPVVLGEQVQLPYQDMLQWNE
AALVVPKPRVTEVHFLLRSLSDSDLLAMRRQGRFLWETYFSTADSIFNTVLAMIRTRIQI
PAAPIREEAAAEIPHRSGKAAGTDPNMADNGDLDLGPVETEPPYASPRYLRNFTLTVTDF
YRSWNCAPGPFHLFPHTPFDPVLPSEAKFLGSGTGFRPIGGGAGGSGKEFQAALGGNVPR
EQFTVVMLTYEREEVLMNSLERLNGLPYLNKVVVVWNSPKLPSEDLLWPDIGVPIMVVRT
EKNSLNNRFLPWNEIETEAILSIDDDAHLRHDEIMFGFRVWREARDRIVGFPGRYHAWDI
PHQSWLYNSNYSCELSMVLTGAAFFHKYYAYLYSYVMPQAIRDMVDEYINCEDIAMNFLV
SHITRKPPIKVTSRWTFRCPGCPQALSHDDSHFHERHKCINFFVKVYGYMPLLYTQFRVD
SVLFKTRLPHDKTKCFKFI
GenBank ID Protein 2723391
UniProtKB/Swiss-Prot ID O43909
UniProtKB/Swiss-Prot Entry Name EXTL3_HUMAN
PDB IDs Not Available
GenBank Gene ID AB007042
GeneCard ID EXTL3
GenAtlas ID Not Available
HGNC ID HGNC:3518
References
General References
  1. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed:15489334 ]
  2. Nagase T, Ishikawa K, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O: Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. DNA Res. 1998 Feb 28;5(1):31-9. [PubMed:9628581 ]
  3. Van Hul W, Wuyts W, Hendrickx J, Speleman F, Wauters J, De Boulle K, Van Roy N, Bossuyt P, Willems PJ: Identification of a third EXT-like gene (EXTL3) belonging to the EXT gene family. Genomics. 1998 Jan 15;47(2):230-7. [PubMed:9479495 ]
  4. Saito T, Seki N, Yamauchi M, Tsuji S, Hayashi A, Kozuma S, Hori T: Structure, chromosomal location, and expression profile of EXTR1 and EXTR2, new members of the multiple exostoses gene family. Biochem Biophys Res Commun. 1998 Feb 4;243(1):61-6. [PubMed:9473480 ]
  5. McCormick C, Duncan G, Goutsos KT, Tufaro F: The putative tumor suppressors EXT1 and EXT2 form a stable complex that accumulates in the Golgi apparatus and catalyzes the synthesis of heparan sulfate. Proc Natl Acad Sci U S A. 2000 Jan 18;97(2):668-73. [PubMed:10639137 ]