• Gene id: 2131

Gene Summary

• Gene Symbol: EXT1   Gene   UCSC   Ensembl
• Aliases: EXT, LGCR, LGS, TRPS2, TTV
• Gene name: exostosin glycosyltransferase 1
• Alternate names: exostosin-1, Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase, Langer-Giedion syndrome chromosome region, N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase, exostoses (multiple) 1, glucuronosyl-N-acetylgluc,
• Gene location: 8q24.11 (118111825: 117794489)     Exons: 11     NC_000008.11
• Gene summary(Entrez): This gene encodes an endoplasmic reticulum-resident type II transmembrane glycosyltransferase involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type I form of multiple exostoses. [provided by RefSeq, J
• OMIM: 608177

Protein Summary

• Protein general information: Q16394  
  • Name: Exostosin 1 (EC 2.4.1.224) (EC 2.4.1.225) (Glucuronosyl N acetylglucosaminyl proteoglycan/N acetylglucosaminyl proteoglycan 4 alpha N acetylglucosaminyltransferase) (Multiple exostoses protein 1) (Putative tumor suppressor protein EXT1)
  • Length: 746  
  • Mass: 86255
  • Tissue specificity: Ubiquitous.
• Sequence:

  MQAKKRYFILLSAGSCLALLFYFGGLQFRASRSHSRREEHSGRNGLHHPSPDHFWPRFPDALRPFVPWDQLENED
  SSVHISPRQKRDANSSIYKGKKCRMESCFDFTLCKKNGFKVYVYPQQKGEKIAESYQNILAAIEGSRFYTSDPSQ
  ACLFVLSLDTLDRDQLSPQYVHNLRSKVQSLHLWNNGRNHLIFNLYSGTWPDYTEDVGFDIGQAMLAKASISTEN
  FRPNFDVSIPLFSKDHPRTGGERGFLKFNTIPPLRKYMLVFKGKRYLTGIGSDTRNALYHVHNGEDVVLLTTCKH
  GKDWQKHKDSRCDRDNTEYEKYDYREMLHNATFCLVPRGRRLGSFRFLEALQAACVPVMLSNGWELPFSEVINWN
  QAAVIGDERLLLQIPSTIRSIHQDKILALRQQTQFLWEAYFSSVEKIVLTTLEIIQDRIFKHISRNSLIWNKHPG
  GLFVLPQYSSYLGDFPYYYANLGLKPPSKFTAVIHAVTPLVSQSQPVLKLLVAAAKSQYCAQIIVLWNCDKPLPA
  KHRWPATAVPVVVIEGESKVMSSRFLPYDNIITDAVLSLDEDTVLSTTEVDFAFTVWQSFPERIVGYPARSHFWD
  NSKERWGYTSKWTNDYSMVLTGAAIYHKYYHYLYSHYLPASLKNMVDQLANCEDILMNFLVSAVTKLPPIKVTQK
  KQYKETMMGQTSRASRWADPDHFAQRQSCMNTFASWFGYMPLIHSQMRLDPVLFKDQVSILRKKYRDIERL

• Structural information:
  • Interpro: IPR004263  IPR027670  IPR040911  IPR015338  IPR029044  
  • STRING: ENSP00000367446
• Other Databases: GeneCards:  EXT1  Malacards:  EXT1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016757	transferase activity, transferring glycosyl groups	IBA	molecular function
GO:0005794	Golgi apparatus	IBA	cellular component
GO:0008375	acetylglucosaminyltransferase activity	IBA	molecular function
GO:0015020	glucuronosyltransferase activity	IBA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0006486	protein glycosylation	IEA	biological process
GO:0015020	glucuronosyltransferase activity	IEA	molecular function
GO:0015012	heparan sulfate proteoglycan biosynthetic process	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006024	glycosaminoglycan biosynthetic process	TAS	biological process
GO:0016021	integral component of membrane	TAS	cellular component
GO:0001501	skeletal system development	TAS	biological process
GO:0005783	endoplasmic reticulum	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0007165	signal transduction	TAS	biological process
GO:0050508	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity	IEA	molecular function
GO:0050509	N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity	IEA	molecular function
GO:0006024	glycosaminoglycan biosynthetic process	TAS	biological process
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0072498	embryonic skeletal joint development	IEA	biological process
GO:0050508	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity	IEA	molecular function
GO:0030176	integral component of endoplasmic reticulum membrane	IEA	cellular component
GO:0021772	olfactory bulb development	IEA	biological process
GO:0007492	endoderm development	IEA	biological process
GO:0050509	N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity	IEA	molecular function
GO:0015012	heparan sulfate proteoglycan biosynthetic process	IEA	biological process
GO:0007498	mesoderm development	IEA	biological process
GO:0007420	brain development	IEA	biological process
GO:0007411	axon guidance	IEA	biological process
GO:0007369	gastrulation	IEA	biological process
GO:0007420	brain development	IEA	biological process
GO:0008375	acetylglucosaminyltransferase activity	IDA	molecular function
GO:0015020	glucuronosyltransferase activity	IDA	molecular function
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0050508	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity	NAS	molecular function
GO:0016757	transferase activity, transferring glycosyl groups	IDA	molecular function
GO:0042328	heparan sulfate N-acetylglucosaminyltransferase activity	NAS	molecular function
GO:0046982	protein heterodimerization activity	IPI	molecular function
GO:0050509	N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity	NAS	molecular function
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0033692	cellular polysaccharide biosynthetic process	IDA	biological process
GO:0000139	Golgi membrane	TAS	cellular component
GO:0001503	ossification	IMP	biological process
GO:0005789	endoplasmic reticulum membrane	NAS	cellular component
GO:0006024	glycosaminoglycan biosynthetic process	IDA	biological process
GO:0015012	heparan sulfate proteoglycan biosynthetic process	IDA	biological process
GO:0015012	heparan sulfate proteoglycan biosynthetic process	IDA	biological process
GO:0015014	heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	IMP	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0000139	Golgi membrane	IEA	cellular component
GO:0006486	protein glycosylation	IEA	biological process
GO:0030176	integral component of endoplasmic reticulum membrane	ISS	cellular component
GO:0050509	N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity	ISS	molecular function
GO:0015012	heparan sulfate proteoglycan biosynthetic process	ISS	biological process
GO:0050508	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity	ISS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00534	Glycosaminoglycan biosynthesis - heparan sulfate / heparin

Diseases

Associated diseases	References
Heparan sulfate proteoglycan gene defects	KEGG:H00493
Multiple exostoses	KEGG:H00122
Trichorhinophalangeal syndrome	KEGG:H00977
Heparan sulfate proteoglycan gene defects	KEGG:H00493
Multiple exostoses	KEGG:H00122
Trichorhinophalangeal syndrome	KEGG:H00977
Hereditary multiple exostoses	PMID:25421355
Hereditary multiple exostoses	PMID:12490068
Hereditary multiple exostoses	PMID:26839764
Hereditary multiple exostoses	PMID:8981950
Hereditary multiple exostoses	PMID:17767039
Hereditary multiple exostoses	PMID:18330718
Hereditary multiple exostoses	PMID:24297320
chondrosarcoma	PMID:17226760
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881