Hmdb loader
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 HMDBP01703
Secondary Accession Numbers
  • 7041
Name Exostosin-like 1
Synonyms
  1. Exostosin-L
  2. Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase
  3. Multiple exostosis-like protein
Gene Name EXTL1
Protein Type Enzyme
Biological Properties
General Function Involved in glucuronosyl-N-acetylglucosaminyl-proteogly
Specific Function Probable glycosyltransferase (By similarity).
Pathways
  • Glycosaminoglycan biosynthesis - heparan sulfate / heparin
  • protein glycosylation
Reactions
Uridine diphosphate-N-acetylglucosamine + beta-D-glucuronosyl-(1->4)-N-acetyl-alpha-D-glucosaminyl-proteoglycan → Uridine 5'-diphosphate + N-acetyl-alpha-D-glucosaminyl-(1->4)-beta-D-glucuronosyl-(1->4)-N-acetyl-alpha-D-glucosaminyl-proteoglycan details
UDP-N-acetyl-D-glucosamine + → UDP + details
GO Classification
Biological Process
protein glycosylation
skeletal system development
Cellular Component
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
glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity
Cellular Location
  1. Endoplasmic reticulum membrane
  2. Single-pass type II membrane protein
Gene Properties
Chromosome Location 1
Locus 1p36.1
SNPs EXTL1
Gene Sequence
>2031 bp
ATGCAGTCGTGGAGGAGAAGAAAGTCCCTGTGGCTGGCACTGTCAGCCTCCTGGCTCCTG
CTTGTCCTGCTGGGAGGCTTCTCCCTTCTCCGCCTGGCGTTGCCTCCCAGACCTCGGCCC
GGGGCTTCCCAAGGCTGGCCCCGCTGGCTGGATGCAGAGCTCCTGCAGAGCTTCTCCCAG
CCTGGAGAGCTCCCAGAAGATGCCGTTTCACCTCCTCAAGCCCCTCATGGTGGCAGCTGC
AACTGGGAATCTTGCTTTGATACCTCAAAGTGCAGGGGCGATGGCCTTAAGGTATTCGTG
TACCCAGCGGTTGGAACCATCTCTGAGACTCATCGCAGGATCCTGGCTTCCATTGAGGGC
TCTCGCTTCTACACATTCAGCCCTGCTGGGGCCTGCCTCCTCCTCCTCCTCAGCCTGGAC
GCCCAGACTGGAGAGTGCAGCTCAATGCCTCTGCAATGGAACAGGGGCAGGAACCATCTG
GTCCTCCGTCTCCACCCGGCTCCCTGCCCCAGGACCTTCCAGCTGGGACAGGCTATGGTG
GCTGAGGCCAGCCCCACGGTGGACTCCTTCCGGCCCGGCTTTGATGTGGCCCTCCCTTTT
CTCCCTGAAGCCCACCCGTTGCGAGGTGGGGCTCCTGGCCAGCTGCGGCAACACAGCCCC
CAGCCCGGGGTAGCCCTGCTAGCCCTGGAAGAGGAGAGGGGTGGGTGGCGCACAGCAGAC
ACTGGCTCCTCTGCCTGCCCCTGGGATGGGCGCTGTGAGCAAGACCCTGGACCTGGGCAG
ACCCAGCGCCAGGAGACGCTGCCCAATGCCACCTTCTGCCTCATCTCTGGCCACCGTCCC
GAGGCTGCCTCGCGCTTCCTCCAAGCCCTGCAGGCCGGCTGCATCCCAGTGCTTCTCAGC
CCCCGCTGGGAGCTGCCCTTCTCCGAGGTCATCGACTGGACCAAGGCAGCCATCGTAGCT
GATGAGAGGCTCCCACTTCAGGTCCTGGCTGCCCTCCAGGAGATGTCCCCTGCACGGGTC
CTCGCCCTGCGTCAGCAGACCCAGTTTCTATGGGATGCCTACTTCTCCTCAGTGGAGAAG
GTCATCCATACCACTCTGGAGGTTATTCAGGACCGGATTTTTGGAACATCAGCTAACCCC
TCACTGCTGTGGAACAGCCCCCCAGGGGCACTCCTGGCCCTGTCTACTTTTTCCACAAGC
CCCCAGGACTTCCCCTTCTACTACCTGCAACAGGGCTCCCGCCCTGAGGGCAGATTCAGC
GCCCTGATCTGGGTGGGGCCCCCAGGCCAGCCCCCTCTGAAGCTCATCCAGGCGGTGGCA
GGCTCCCAGCACTGTGCCCAGATCTTGGTTCTCTGGAGCAATGAGAGGCCACTCCCATCC
AGGTGGCCGGAGACAGCTGTGCCCTTGACAGTCATTGATGGGCACAGGAAGGTTAGTGAT
CGCTTCTACCCATATAGCACCATCAGAACAGATGCCATCCTCAGCCTCGATGCCCGCAGC
AGTCTTTCCACAAGTGAGGTGGACTTTGCCTTTCTGGTGTGGCAGAGCTTCCCAGAGCGG
ATGGTGGGCTTCCTGACGTCGAGCCATTTCTGGGACGAGGCCCATGGTGGCTGGGGCTAC
ACTGCTGAGAGGACCAACGAATTCTCCATGGTTCTCACCACAGCCGCCTTCTACCATAGG
TATTACCACACTCTCTTCACCCACTCCCTGCCCAAGGCTCTGAGGACCCTGGCAGATGAG
GCACCCACCTGTGTGGACGTCCTGATGAATTTCATAGTAGCAGCAGTCACCAAGCTGCCC
CCTATCAAGGTGCCCTATGGCAAGCAGCGCCAGGAGGCTGCTCCACTGGCGCCTGGGGGC
CCGGGGCCCAGGCCAAAGCCGCCTGCCCCAGCCCCCGACTGCATCAACCAGATAGCGGCA
GCGTTCGGCCACATGCCCTTGCTGTCCTCTCGTCTGCGTCTGGACCCGGTGCTGTTTAAG
GACCCGGTGTCCGTGCAGCGCAAGAAGTACCGCAGCCTGGAGAAGCCCTAG
Protein Properties
Number of Residues 676
Molecular Weight 74695.785
Theoretical pI 8.192
Pfam Domain Function
Signals Not Available
Transmembrane Regions Not Available
Protein Sequence
>Exostosin-like 1
MQSWRRRKSLWLALSASWLLLVLLGGFSLLRLALPPRPRPGASQGWPRWLDAELLQSFSQ
PGELPEDAVSPPQAPHGGSCNWESCFDTSKCRGDGLKVFVYPAVGTISETHRRILASIEG
SRFYTFSPAGACLLLLLSLDAQTGECSSMPLQWNRGRNHLVLRLHPAPCPRTFQLGQAMV
AEASPTVDSFRPGFDVALPFLPEAHPLRGGAPGQLRQHSPQPGVALLALEEERGGWRTAD
TGSSACPWDGRCEQDPGPGQTQRQETLPNATFCLISGHRPEAASRFLQALQAGCIPVLLS
PRWELPFSEVIDWTKAAIVADERLPLQVLAALQEMSPARVLALRQQTQFLWDAYFSSVEK
VIHTTLEVIQDRIFGTSAHPSLLWNSPPGALLALSTFSTSPQDFPFYYLQQGSRPEGRFS
ALIWVGPPGQPPLKLIQAVAGSQHCAQILVLWSNERPLPSRWPETAVPLTVIDGHRKVSD
RFYPYSTIRTDAILSLDARSSLSTSEVDFAFLVWQSFPERMVGFLTSSHFWDEAHGGWGY
TAERTNEFSMVLTTAAFYHRYYHTLFTHSLPKALRTLADEAPTCVDVLMNFIVAAVTKLP
PIKVPYGKQRQEAAPLAPGGPGPRPKPPAPAPDCINQIAAAFGHMPLLSSRLRLDPVLFK
DPVSVQRKKYRSLEKP
GenBank ID Protein 4106426
UniProtKB/Swiss-Prot ID Q92935
UniProtKB/Swiss-Prot Entry Name EXTL1_HUMAN
PDB IDs Not Available
GenBank Gene ID AF083633
GeneCard ID EXTL1
GenAtlas ID Not Available
HGNC ID HGNC:3515
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. Gregory SG, Barlow KF, McLay KE, Kaul R, Swarbreck D, Dunham A, Scott CE, Howe KL, Woodfine K, Spencer CC, Jones MC, Gillson C, Searle S, Zhou Y, Kokocinski F, McDonald L, Evans R, Phillips K, Atkinson A, Cooper R, Jones C, Hall RE, Andrews TD, Lloyd C, Ainscough R, Almeida JP, Ambrose KD, Anderson F, Andrew RW, Ashwell RI, Aubin K, Babbage AK, Bagguley CL, Bailey J, Beasley H, Bethel G, Bird CP, Bray-Allen S, Brown JY, Brown AJ, Buckley D, Burton J, Bye J, Carder C, Chapman JC, Clark SY, Clarke G, Clee C, Cobley V, Collier RE, Corby N, Coville GJ, Davies J, Deadman R, Dunn M, Earthrowl M, Ellington AG, Errington H, Frankish A, Frankland J, French L, Garner P, Garnett J, Gay L, Ghori MR, Gibson R, Gilby LM, Gillett W, Glithero RJ, Grafham DV, Griffiths C, Griffiths-Jones S, Grocock R, Hammond S, Harrison ES, Hart E, Haugen E, Heath PD, Holmes S, Holt K, Howden PJ, Hunt AR, Hunt SE, Hunter G, Isherwood J, James R, Johnson C, Johnson D, Joy A, Kay M, Kershaw JK, Kibukawa M, Kimberley AM, King A, Knights AJ, Lad H, Laird G, Lawlor S, Leongamornlert DA, Lloyd DM, Loveland J, Lovell J, Lush MJ, Lyne R, Martin S, Mashreghi-Mohammadi M, Matthews L, Matthews NS, McLaren S, Milne S, Mistry S, Moore MJ, Nickerson T, O'Dell CN, Oliver K, Palmeiri A, Palmer SA, Parker A, Patel D, Pearce AV, Peck AI, Pelan S, Phelps K, Phillimore BJ, Plumb R, Rajan J, Raymond C, Rouse G, Saenphimmachak C, Sehra HK, Sheridan E, Shownkeen R, Sims S, Skuce CD, Smith M, Steward C, Subramanian S, Sycamore N, Tracey A, Tromans A, Van Helmond Z, Wall M, Wallis JM, White S, Whitehead SL, Wilkinson JE, Willey DL, Williams H, Wilming L, Wray PW, Wu Z, Coulson A, Vaudin M, Sulston JE, Durbin R, Hubbard T, Wooster R, Dunham I, Carter NP, McVean G, Ross MT, Harrow J, Olson MV, Beck S, Rogers J, Bentley DR, Banerjee R, Bryant SP, Burford DC, Burrill WD, Clegg SM, Dhami P, Dovey O, Faulkner LM, Gribble SM, Langford CF, Pandian RD, Porter KM, Prigmore E: The DNA sequence and biological annotation of human chromosome 1. Nature. 2006 May 18;441(7091):315-21. [PubMed:16710414 ]
  3. Xu L, Xia J, Jiang H, Zhou J, Li H, Wang D, Pan Q, Long Z, Fan C, Deng HX: Mutation analysis of hereditary multiple exostoses in the Chinese. Hum Genet. 1999 Jul-Aug;105(1-2):45-50. [PubMed:10480354 ]
  4. Wise CA, Clines GA, Massa H, Trask BJ, Lovett M: Identification and localization of the gene for EXTL, a third member of the multiple exostoses gene family. Genome Res. 1997 Jan;7(1):10-6. [PubMed:9037597 ]
  5. Wuyts W, Spieker N, Van Roy N, De Boulle K, De Paepe A, Willems PJ, Van Hul W, Versteeg R, Speleman F: Refined physical mapping and genomic structure of the EXTL1 gene. Cytogenet Cell Genet. 1999;86(3-4):267-70. [PubMed:10575224 ]