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EXT1 Gene

protein-coding GIFtS: 68

GC08M118880

exostoses (multiple) 1
(Previous name: Langer-Giedion syndrome chromosome region )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbols: LGCR, LGS)

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
About This Section

Aliases
EC 2.4.1.224,EC 2.4.1.225 ^³
EXT ^²
LGCR ^²
LGS ^²
OTTHUMP00000066043 ^²
TRPS2 ^²
ttv ^¹, ²

Descriptions
Glucuronosyl-N-acetylglucosaminyl-proteoglycan/N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase ^³
Langer-Giedion syndrome chromosome region ^¹, ²
Multiple exostoses protein 1 ^³
N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase ^²
Putative tumor suppressor protein EXT1 ^³
exostoses (multiple) 1 ^²
exostosin 1 ^²
glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase ^²

External Ids
HGNC: 3512¹
Entrez Gene: 2131²
UniProtKB: Q16394³
Ensembl: ENSG00000182197⁷

Search outside databases for aliases for EXT1 gene

Previous GC identifers: GC08M117798 GC08M118872 GC08M118480 GC08M118768

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for EXT1:

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]

UniProtKB/Swiss-Prot: EXT1_HUMAN, Q16394

Function: Glycosyltransferase required for the biosynthesis of heparan-sulfate. The EXT1/EXT2

complex possesses substantially higher glycosyltransferase activity than EXT1 or EXT2 alone.

Appears to be a tumor suppressor

Gene Wiki entry for EXT1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the EXT1 gene

Entrez Gene cytogenetic band: 8q24.11-q24.13 Ensembl cytogenetic band: 8q24.11 HGNC cytogenetic band: 8q24.11

EXT1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 8 GeneLoc Exon Structure

GeneLoc location for GC08M118880: (about GC identifiers)

Start:	118,875,910 bp from pter
End:	119,193,239 bp from pter
Size:	317,330 bases
Orientation:	minus strand

RefSeq DNA sequence:

NC_000008.9 NT_008046.15

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

UniProtKB/Swiss-Prot: EXT1_HUMAN, Q16394 (See protein sequence)

Recommended Name: Exostosin-1

Size: 746 amino acids; 86255 Da

Subunit: Forms a homo/hetero-oligomeric complex with EXT2

Subcellular location: Endoplasmic reticulum membrane; Single-pass type II membrane protein. Golgi

apparatus membrane; Single-pass type II membrane protein. Note=The EXT1/EXT2 complex is localized

in the Golgi apparatus

Secondary accessions: Q9BVI9

Post-translational modifications:

View phosphorylation sites using PhosphoSite²

REFSEQ proteins: NP_000118.2

ENSEMBL proteins:

ENSP00000367446

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (Ext1)
	Human Recombinant Proteins from Abnova (EXT1)

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

5/6 Gene Ontology (GO) cellular component terms (links to tree view) (see all 6 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000139	Golgi membrane	IEA	--
GO:0005783	endoplasmic reticulum	TAS	10878610
GO:0005794	Golgi apparatus	IEA	--
GO:0016020	membrane	IEA	--
GO:0016021	integral to membrane	TAS	9620772

About this table

Antibodies for EXT1:

	Browse Antibodies Central at Invitrogen
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Sigma-Aldrich Antibodies for EXT1
	Browse R&D Systems for Antibodies
	Antibodies from Abcam (Ext1), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (EXT1)
	Novus Biologicals Antibody for EXT1

Assays for EXT1:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

Graphical View of Domain Structure for InterPro Entry Q16394

ProtoNet protein and cluster: Q16394

1 Blocks protein family: IPB004263 Exostosin-like

UniProtKB/Swiss-Prot: EXT1_HUMAN, Q16394

Similarity: Belongs to the glycosyltransferase 47 family

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (EXT1)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (EXT1)

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000127

Applied Biosystems Silencer® siRNAs for EXT1

Sigma-Aldrich siRNA and siRNA Panels for EXT1

Sigma-Aldrich shRNA for EXT1

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Invitrogen Clones for EXT1
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clone in CMV expression vector: NM_000127
Myc/DDK tagged cDNA clone in CMV expression vector: NM_000127
untagged cDNA clones in CMV expression vector (see all 2): NM_000127

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_000127

UniProtKB/Swiss-Prot: EXT1_HUMAN, Q16394

Function: Glycosyltransferase required for the biosynthesis of heparan-sulfate. The EXT1/EXT2

complex possesses substantially higher glycosyltransferase activity than EXT1 or EXT2 alone.

Appears to be a tumor suppressor

Catalytic activity: UDP-N-acetyl-D-glucosamine +

beta-D-glucuronosyl-(1->4)-N-acetyl-alpha-D-glucosaminyl-proteoglycan = UDP +

N-acetyl-alpha-D-glucosaminyl-(1->4)-beta-D-glucuronosyl-(1->4)-N-acetyl-alpha-D-glucosaminyl-proteoglycan

Catalytic activity: UDP-alpha-D-glucuronate +

N-acetyl-alpha-D-glucosaminyl-(1->4)-beta-D-glucuronosyl-proteoglycan = UDP +

beta-D-glucuronosyl-(1->4)-N-acetyl-alpha-D-glucosaminyl-(1->4)-beta-D-glucuronosyl-proteoglycan

Enzyme Number (IUBMB): EC 2.4.1.224,EC

Genatlas biochemistry entry for EXT1:

exostoses multiple gene 1,transmembrane glycoprotein,housekeeping gene ubiquitously

expressed,localized to the rough endoplasmic reticulum (ER), accumulating in the Golgi

network,forming a stable complex with EXT2 and catalyzing the synthesis of heparan sulfate,homolog

to EXT2,80 kDa,mutated in EXT1 and having tumor suppressor function (see TSG8C),

6 MGI mutant phenotypes (inferred from 5 alleles) (MGI details for Ext1):

lethality-prenatal/perinatal	life span-post-weaning/aging	limbs/digits/tail	nervous system	normal
vision/eye

5/6 Gene Ontology (GO) molecular function terms (links to tree view) (see all 6 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005515	protein binding	IPI	17353931
GO:0042328	heparan sulfate N-acetylglucosaminyltransferase activity	NAS	12907669
GO:0042803	protein homodimerization activity	IDA	12907669
GO:0046982	protein heterodimerization activity	IPI	12907669
GO:0050508	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity	ISS	--

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

UniProtKB/Swiss-Prot: EXT1_HUMAN, Q16394

Pathway: Protein modification; protein glycosylation

Gene Network Central^TM Interacting Genes and Proteins Network for EXT1

5/19 Interacting proteins for EXT1 (Q16394¹ ENSP00000367446³) via UniProtKB, MINT, and/or STRING (see all 19 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CNTF	P26441¹	EBI-1046007, EBI-1050897
OSTF1	Q92882¹	EBI-1046007, EBI-1051152
EXT2	ENSP00000351509³	STRING (score=.979)
TRPS1	ENSP00000220888³	STRING (score=.956)
EXTL3	ENSP00000220562³	STRING (score=.926)

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5/9 Gene Ontology (GO) biological process terms (links to tree view) (see all 9 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001501	skeletal system development	TAS	9620772
GO:0001503	ossification	IMP	7550340
GO:0006024	glycosaminoglycan biosynthetic process	TAS	10639137
GO:0007165	signal transduction	TAS	10878610
GO:0007369	gastrulation	IEA	--

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for EXT1
2 Novoseek chemical compound relationships for EXT1 gene

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
heparan sulfate	83.24	67	17761672 (6), 15161920 (5), 11121397 (3), 12907685 (3) (see all 28)
glycosaminoglycan	15.44	1	17610078 (1)

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (EXT1)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (EXT1)

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000127

Sigma-Aldrich siRNA and siRNA Panels for EXT1

Sigma-Aldrich shRNA for EXT1

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_000127

REFSEQ mRNAs for EXT1 gene:

NM_000127.2

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_000127

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_000127
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_000127
                                 untagged cDNA clones in CMV expression vector (see all 2): NM_000127

Additional cDNA sequence:

AK130054.1 AK313129.1 BC001174.1 S79639.1

13 DOTS entries:

DT.100823384 DT.218142 DT.100707766 DT.121491521 DT.121491603 DT.102838202 DT.102838201 DT.121491556

DT.121491617 DT.85104306 DT.95272482 DT.99992771 DT.95272481

24/278 AceView cDNA sequences (see all 278 ):

BG252233 BF057267 BM354170 BQ722343 BF432622 BU839234 CB152580 AI676041

AI676116 CB151698 AA426569 AU117878 CA309282 W96206 AI672951 AA453003

BQ066484 AA678413 BM679125 BM722194 N55833 BP345235 CA308793 BE140552

highest scoring ESTs for EXT1:

S79639 AA146899 AA219346 AA248770 AA332786 AA425095 AL120586 AU125159 AU138580 AW368043

Unigene Cluster for EXT1:

Exostoses (multiple) 1

Hs.492618 [show with all ESTs]

Unigene Representative Sequence: NM_000127

GeneLoc Exon Structure

3 Alternative Splicing Database (ASD) splice patterns (SP) for EXT1

ExUns:	1	^	2a	·	2b	^	3	^	4	^	5	^	6a	·	6b	^	7	^	8	^	9	^	10	^	11	^	12	^	13
SP1:											-
SP2:
SP3:			-		-						-

About this scheme

ECgene alternative splicing isoforms for EXT1

1 Ensembl transcript including schematic representation:

ENST00000378204

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

EXT1 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for EXT1

¹ / ² / ³

10 probe-sets matching EXT1 gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
222_at²^{, 3}	U95-A	1	1.00	1.00	0.92	1.18	S79639	1.00	1.00	1.00	1
53588_at²^{, 3}	U95-B	1	1.00	1.00	0.95	0.86	AI967984	0.20	1.00	0.72	1
41575_at²^{, 3}	U95-A	1	1.00	1.00	0.36	0.30	AF070571	0.20	1.00	0.72	1
32164_at²^{, 3}	U95-A	1	1.00	1.00	0.98	0.97	S79639	1.00	1.00	1.00	1
230183_at²	U133-B	1	1.00	1.00	--	--	--	--	--	--	--
201995_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_000127	0.60	1.00	0.82	1
214985_at²^{, 3}	U133-A	1	1.00	1.00	--	--	AF070571	0.20	1.00	0.72	1
230183_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
201995_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
214985_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

GeneDecks EXT1 for binary patterns associated with the probe-sets selected above

About GeneDecksing

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Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: CCGCTGATCC

SOURCE GeneReport for Unigene cluster: Hs.492618
Expression variation in blood from EXPOLDB for EXT1
UniProtKB/Swiss-Prot: EXT1_HUMAN, Q16394
Tissue specificity: Ubiquitous

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for EXT1 gene from 5/13 species (see all 13 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	EXT1¹	--	exostoses (multiple) 1	96.69(n) 99.2(a)	482024 XM_539145.2 XP_539145.2
chimpanzee (Pan troglodytes)	EXT1¹	--	exostoses (multiple) 1	99.82(n) 99.87(a)	464349 XM_001141496.1 XP_001141496.1
cow (Bos taurus)	EXT1¹	--	exostoses (multiple) 1	96.51(n) 99.33(a)	538602 XM_581403.3 XP_581403.3
rat (Rattus norvegicus)	Ext1¹	--	exostoses (multiple) 1	95.98(n) 99.33(a)	299907 XM_216920.4 XP_216920.3
mouse (Mus musculus)	Ext1^{1, 5}	15 (26.55 cM)⁵	exostoses (multiple) 1^{1, 5}	95.84(n)¹ 99.33(a)¹	14042¹ NM_010162.2¹ NP_034292.2¹ AA409028⁵ AK132327⁵ (see all 12)

About this table Species with no ortholog for EXT1

ENSEMBL Gene Tree for EXT1

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
About This Section

Paralogs for EXT1 gene

EXTL1² EXT2²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/2633 NCBI SNPs in EXT1 are shown (see all 2633 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 1347)

AB	SNP ID	Valid	Chr 8 pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--				--
	rs7835605^1,2	A,C,F,H	119194082(+)	`TTTCTA/GATGGC`	1	--	ng3¹		5		EU EA WA	594
	rs6469721^1,2	A,C,F,H	119193750(+)	`ACCGCC/GGATCC`	1	--	ng3¹		4		EU EA WA	418
	rs2514757^1,2	A,C,F,H	119194777(+)	`CATTCG/CTGAAG`	1	--	ng3¹		9		EU EA WA	1012
	rs7835956^1,2	A,C,F,H	119194005(+)	`AGGCCG/ACCTTG`	1	--	ng3¹		5		EU EA WA	598
	rs17431937^1,2	C,F,H	119194682(+)	`CAGTAT/CGAAAT`	1	--	ng3¹		4		EU EA WA	418
	rs17506461^1,2	F,H	119195027(+)	`GATTAT/CCTCAG`	1	--	ng3¹		4		EU EA WA	418
--	rs13264453^1,2	A	119195115(+)	`tctctA/Ctatat`	1	--	ng3¹ trp³		0	--	--	--	--
	rs7837891^1,2	C,F,H	118888759(+)	`ATCCTC/TTCAGG`	1	E/E	syn¹		11		EU EA WA MN	2270
	rs17439693^1,2	C,F,H	118901201(+)	`TTGGAG/AGGGGG`	1	P/P	syn¹		8		EU EA WA	838
	rs2451157^1,2	A,C,F,H,O	119148377(-)	`TTGTTA/GAGCAC`	1	--	int¹		10		EU EA WA NA	914

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HapMap Linkage Disequilibrium images for EXT1 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 608177 disorders: 133700 215300

UniProtKB/Swiss-Prot: EXT1_HUMAN, Q16394

Defects in EXT1 are a cause of hereditary multiple exostoses type 1 (EXT1) [MIM:133700].

EXT is a genetically heterogeneous bone disorder caused by genes segregating on human chromosomes

8, 11, and 19 and designated EXT1, EXT2 and EXT3 respectively. EXT is a dominantly inherited

skeletal disorder primarily affecting endochondral bone during growth. The disease is

characterized by formation of numerous cartilage-capped, benign bone tumors (osteocartilaginous

exostoses or osteochondromas) that are often accompanied by skeletal deformities and short

stature. In a small percentage of cases exostoses have exhibited malignant transformation

resulting in an osteosarcoma or chondrosarcoma. Osteochondromas development can also occur as a

sporadic event

Defects in EXT1 are the cause of multiple exostoses observed in Langer-Giedon syndrome

(LGS) [MIM:150230]; also known as trichorhinophalangeal syndrome type 2 (TRPS2). It is a

contiguous gene syndrome due to deletions in chromosome 8q24.1 and resulting in the loss of

functional copies of EXT1 and TRPS1

Defects in EXT1 may be a cause of chondrosarcoma [MIM:215300]

10/16 Novoseek disease relationships for EXT1 gene (see all 16 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
exostoses multiple hereditary	98.93	95	9150727 (3), 9463333 (2), 10639137 (2), 9703997 (2) (see all 62)
exostoses	94.41	8	9463333 (2), 10878610 (1), 10679937 (1), 10750558 (1) (see all 7)
langer-giedion syndrome	90.66	7	8530105 (2), 10647898 (1), 12457403 (1)
osteochondroma	90.30	29	15796962 (3), 12645631 (3), 17226760 (2), 9576285 (2) (see all 14)
chondrosarcoma	84.89	22	15796962 (6), 8981950 (4), 19179614 (2), 9463333 (1) (see all 11)
skeletal disorder	72.59	2	9326317 (1), 16476576 (1)
bone diseases	53.52	4	9463333 (1), 10713884 (1), 9150727 (1)
bone tumor	52.59	1	9479495 (1)
genetic disorder	51.49	5	10639137 (1), 11391482 (1), 18367479 (1), 11169766 (1)
germ-line mutation	37.02	1	8981950 (1)

About this table

Genatlas disease: EXT1

exostoses,multiple,1,also associated with trichorhinophalangeal syndrome in Langer-Giedion

syndrome (see LGCR)

GeneTests: EXT1

Hereditary Multiple Osteochondromas

Human Gene Mutation Database: EXT1
Genetic Association Database: EXT1
Human Genome Epidemiology Navigator: EXT1 (2 documents)

(Possibly Related Articles in Doctor's Guide)
About This Section

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
About This Section

10/128 PubMed articles for EXT1 gene (see all 128 ):

Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses. (PubMed id 9463333)^{1, 3, 4} Wuyts W.... Willems P.J. (1998)
Diminished levels of the putative tumor suppressor proteins EXT1 and EXT2 in exostosis chondrocytes. (PubMed id 11169766)^{1, 3, 4} Bernard M.A.... Hecht J.T. (2001)
Association of EXT1 and EXT2, hereditary multiple exostoses gene products, in Golgi apparatus. (PubMed id 10679296)^{1, 3, 4} Kobayashi S....Shirasawa T. (2000)
Etiological point mutations in the hereditary multiple exostoses gene EXT1: a functional analysis of heparan sulfate polymerase activity. (PubMed id 11391482)^{1, 3, 4} Cheung P.K....Duncan G. (2001)
Evaluation of locus heterogeneity and EXT1 mutations in 34 families with hereditary multiple exostoses. (PubMed id 9521425)^{1, 3, 4} Raskind W.H.... Houck J. (1998)
Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses. (PubMed id 9326317)^{1, 3, 4} Philippe C....Monaco A.P. (1997)
Mutation analysis of hereditary multiple exostoses in the Chinese. (PubMed id 10480354)^{1, 3, 4} Xu L.... Deng H.-X. (1999)
Hereditary multiple exostoses (EXT): mutational studies of familial EXT1 cases and EXT-associated malignancies. (PubMed id 8981950)^{1, 3, 4} Hecht J.T.... Wells D.E. (1997)
An optimized DHPLC protocol for molecular testing of the EXT1 and EXT2 genes in hereditary multiple osteochondromas. (PubMed id 16283885)^{1, 3, 6} Wuyts W....Vits L. (2005)
Mutation screening of EXT1 and EXT2 by direct sequence analysis and MLPA in patients with multiple osteochondromas: splice site mutations and exonic deletions account for more than half of the mutations. (PubMed id 15586175)^{1, 3, 6} Vink G.R....Bakker E. (2005)

(in PubMed, OMIM, and NCBI Bookshelf)
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Aliases
Disorders
Free Text

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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
About This Section

Entrez Gene: 2131	HGNC: 3512	AceView: EXT1	Ensembl:ENSG00000182197	euGenes: HUgn2131
ECgene: EXT1	H-InvDB: EXT1

(According to HUGE)
About This Section

(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
ATLAS Chromosomes in Cancer entry for EXT1	Genetics and Cytogenetics in Oncology and Haematology
GeneReviews	http://www.genetests.org/query?gene=EXT1
GGDB	http://riodb.ibase.aist.go.jp/rcmg/ggdb/

Licensable Technologies for EXT1
(Available from WIS Yeda, Salk, Tufts)

About This Section

(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section

Products for EXT1:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for EXT1-related products

	Millipore Custom Antibody & Bulk Services
	Millipore Preclinical / Clinical Development Services
	Millipore Immunoassay Services
	Millipore Target Screening & Profiling Services

	Predesigned and custom siRNAs for EXT1		Antibodies for EXT1
	Explore super-pooled esiRNAs		Browse proteins at Sigma-Aldrich
	Lentivirus-delivered shRNAs for EXT1		Browse small molecules at Sigma-Aldrich
	"Your Favorite Gene" Pathways		feedback

	Antibodies		Primer Pairs
	Cell Culture Products		ELISAs
	Flow Cytometry Kits		Protease Activity Assays & Reagents
	Cell Selection/Detection Kits & Reagents		ELISA/Assay Development Kits & Reagents
	Multiplex/Array Assay Kits & Reagents		ELISpot Kits & Development Modules
	Recombinant & Natural Proteins

	Recombinant Proteins (EXT1)
	Antibodies (EXT1)
	Chimera RNAi (EXT1)
	Custom Service for Mouse Mab
	Custom Service for Rabbit Pab from Full-length Protein

Search for Antibodies & Assays

	Recombinant Proteins (Ext1)
	Antibodies (Ext1)

Search OriGene for EXT1

Search Tocris compounds for EXT1

Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies

Antibodies for EXT1

GeneCards Homepage - Last full update: 2 Jul 2009 Incremental update: 13 Oct 2009

Random Gene From GIFtS :

about GIFtS

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Developed at the Crown Human Genome Center & Weizmann Institute of Science

The GeneCards Human Gene Database: Copyright © 1996-2009, Weizmann Institute of Science. All Rights Reserved.
EXT1 Gene at Home site.
Version 2.41.1
server4.xennexinc.com

EXT1 Gene

protein-coding GIFtS: 68

Aliases &
Descriptions
for EXT1

Summaries
for EXT1

Genomic Location
for EXT1

Proteins
for EXT1

Protein Domains/
Families
for EXT1

Gene Function
for EXT1

Pathways & Interactions
for EXT1

Drugs & Compounds
for EXT1

Transcripts
for EXT1

Expression
for EXT1

Orthologs
for EXT1

Paralogs
for EXT1

SNPs/Variants
for EXT1

Disorders & Mutations
for EXT1

Medical News
for EXT1

Publications
for EXT1

Search for EXT1

Genome Databases showing EXT1

Other Databases showing EXT1

Specialized Databases showing EXT1

Licensable Technologies
for EXT1

Services
for EXT1

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

EXT1 Gene

protein-coding GIFtS: 68

Aliases & Descriptionsfor EXT1

Summariesfor EXT1

Genomic Locationfor EXT1

Proteinsfor EXT1

Protein Domains/Familiesfor EXT1

Gene Functionfor EXT1

Pathways & Interactionsfor EXT1

Drugs & Compoundsfor EXT1

Transcriptsfor EXT1

Expression for EXT1

Orthologsfor EXT1

Paralogsfor EXT1

SNPs/Variantsfor EXT1

Disorders & Mutationsfor EXT1

Medical Newsfor EXT1

Publicationsfor EXT1

Search for EXT1

Genome Databases showing EXT1

Other Databases showing EXT1

Specialized Databases showing EXT1

Licensable Technologiesfor EXT1

Servicesfor EXT1

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for EXT1

Summaries
for EXT1

Genomic Location
for EXT1

Proteins
for EXT1

Protein Domains/
Families
for EXT1

Gene Function
for EXT1

Pathways & Interactions
for EXT1

Drugs & Compounds
for EXT1

Transcripts
for EXT1

Expression
for EXT1

Orthologs
for EXT1

Paralogs
for EXT1

SNPs/Variants
for EXT1

Disorders & Mutations
for EXT1

Medical News
for EXT1

Publications
for EXT1

Licensable Technologies
for EXT1

Services
for EXT1