Aliases for EXT1 Gene
Aliases for EXT1 Gene
- Exostosin Glycosyltransferase 1 2 3 5
- Glucuronosyl-N-Acetylglucosaminyl-Proteoglycan/N-Acetylglucosaminyl-Proteoglycan 4-Alpha-N-Acetylglucosaminyltransferase 3 4
- Glucuronosyl-N-Acetylglucosaminyl-Proteoglycan 4-Alpha-N- Acetylglucosaminyltransferase 2 3
- N-Acetylglucosaminyl-Proteoglycan 4-Beta-Glucuronosyltransferase 2 3
- Langer-Giedion Syndrome Chromosome Region 2 3
- Putative Tumor Suppressor Protein EXT1 3 4
- Multiple Exostoses Protein 1 3 4
- Exostoses (Multiple) 1 2 3
- EC 2.4.1.224 4
External Ids for EXT1 Gene
- HGNC: 3512
- Entrez Gene: 2131
- Ensembl: ENSG00000182197
- OMIM: 608177
- UniProtKB: Q16394
Previous HGNC Symbols for EXT1 Gene
- LGCR
- LGS
Previous GeneCards Identifiers for EXT1 Gene
- GC08M118872
- GC08M118480
- GC08M118768
- GC08M118880
- GC08M114138
Summaries for EXT1 Gene
-
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, Jul 2008]
GeneCards Summary for EXT1 Gene
EXT1 (Exostosin Glycosyltransferase 1) is a Protein Coding gene. Diseases associated with EXT1 include Chondrosarcoma and Exostoses, Multiple, Type 1. Among its related pathways are Mesodermal Commitment Pathway and Glycosaminoglycan metabolism. GO annotations related to this gene include protein homodimerization activity and transferase activity, transferring glycosyl groups. An important paralog of this gene is EXTL1.
UniProtKB/Swiss-Prot for EXT1 Gene
-
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. Required for the exosomal release of SDCBP, CD63 and syndecan (PubMed:22660413).
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EXT1 Gene
Genomics for EXT1 Gene
Regulatory Elements for EXT1 Gene
Enhancers for EXT1 Gene
| GeneHancer Identifier | Enhancer Score | Enhancer Sources | Gene-Enhancer Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites within enhancer | Gene Targets for Enhancer |
|---|---|---|---|---|---|---|---|---|
| GH08G117954 | 1.7 | FANTOM5 Ensembl ENCODE dbSUPER | 17.1 | +154.8 | 154796 | 6.0 | ZBTB21 JUN TEAD4 SIN3A RBBP5 CHD7 RAD21 ZNF664 ZNF121 GATA3 | EXT1 MED30 GC08M117980 GC08P117918 |
| GH08G118008 | 1.7 | FANTOM5 Ensembl ENCODE dbSUPER | 14 | +100.8 | 100831 | 6.0 | RAD21 YY1 GATA2 ZNF143 FOS THAP11 ZNF263 USF2 CEBPB NR2F2 | EXT1 GC08M117980 GC08M118034 |
| GH08G117945 | 1.8 | FANTOM5 Ensembl ENCODE dbSUPER | 10.7 | +164.6 | 164564 | 3.1 | HNRNPUL1 FOXA2 ATF1 MLX ZFP64 ARID4B FEZF1 DMAP1 ZNF48 YY1 | EXT1 GC08P117918 GC08M117980 |
| GH08G118078 | 1.5 | Ensembl ENCODE dbSUPER | 11.9 | +32.4 | 32399 | 2.9 | PKNOX1 FOXA2 FEZF1 BRCA1 ZNF2 FOS ZNF263 TSHZ1 ZNF518A SMARCA4 | EXT1 GC08M118085 GC08M118034 |
| GH08G117988 | 1.5 | Ensembl ENCODE dbSUPER | 11.3 | +122.2 | 122245 | 2.2 | FOXA2 ATF1 MLX ARID4B YY1 ZHX2 JUNB MIER2 PPARG TBX21 | EXT1 GC08M117980 GC08P117918 |
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around EXT1 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Location for EXT1 Gene
- Chromosome:
- 8
- Start:
- 117,794,490 bp from pter
- End:
- 118,111,853 bp from pter
- Size:
- 317,364 bases
- Orientation:
- Minus strand
Genomic View for EXT1 Gene
Genes around EXT1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 8q24.11 by Ensembl
- 8q24.11 by Entrez Gene
- 8q24.11 by HGNC
EXT1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for EXT1 Gene
Proteins for EXT1 Gene
-
Protein details for EXT1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q16394-EXT1_HUMAN
- Recommended name:
- Exostosin-1
- Protein Accession:
- Q16394
- B2R7V2
- Q9BVI9
Protein attributes for EXT1 Gene
- Size:
- 746 amino acids
- Molecular mass:
- 86255 Da
- Cofactor:
- Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
- Quaternary structure:
-
- Forms a homo/hetero-oligomeric complex with EXT2.
Protein Expression for EXT1 Gene
Post-translational modifications for EXT1 Gene
Other Protein References for EXT1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for EXT1
- Novus Biologicals Antibodies for EXT1
-
Cloud-Clone Corp. Antibodies for EXT1
- Invitrogen Antibodies for EXT1
- antibodies-online Antibodies for EXT1: See all 59
- GeneTex EXT1 antibody for EXT1
-
Santa Cruz Biotechnology (SCBT) Antibodies for EXT1
Protein Products
- R&D Systems Proteins and Enzymes for EXT1 (Exostosin 1)
-
OriGene Purified Proteins for EXT1
- Search Origene for MassSpec and Protein Over-expression Lysates for EXT1
- Origene Custom Protein Services for EXT1
-
Cloud-Clone Corp. Proteins for EXT1
- antibodies-online Proteins for EXT1: See all 8
- Search antibodies-online for peptides
- Search GeneTex for Proteins for EXT1
No data available for DME Specific Peptides for EXT1 Gene
Domains & Families for EXT1 Gene
Gene Families for EXT1 Gene
Protein Domains for EXT1 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for EXT1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q16394- Family:
-
- Belongs to the glycosyltransferase 47 family.
Function for EXT1 Gene
Molecular function for EXT1 Gene
- GENATLAS Biochemistry:
- 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),
- UniProtKB/Swiss-Prot CatalyticActivity:
- 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.
- UniProtKB/Swiss-Prot CatalyticActivity:
- 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.
- UniProtKB/Swiss-Prot 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. Required for the exosomal release of SDCBP, CD63 and syndecan (PubMed:22660413).
Enzyme Numbers (IUBMB) for EXT1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0008375 | acetylglucosaminyltransferase activity | IDA | 12907669 |
| GO:0015020 | glucuronosyltransferase activity | IDA,IEA | 12907669 |
| GO:0016740 | transferase activity | IEA | -- |
| GO:0016757 | transferase activity, transferring glycosyl groups | IDA | 12907669 |
| GO:0042328 | heparan sulfate N-acetylglucosaminyltransferase activity | NAS | 12907669 |
Phenotypes for EXT1 Gene
- MGI mutant phenotypes for EXT1:
-
inferred from 9 alleles
- mortality/aging
- cellular phenotype
- behavior/neurological phenotype
- normal phenotype
- growth/size/body region phenotype
- nervous system phenotype
- digestive/alimentary phenotype
- neoplasm
- vision/eye phenotype
- hearing/vestibular/ear phenotype
- integument phenotype
- limbs/digits/tail phenotype
- skeleton phenotype
- embryo phenotype
- craniofacial phenotype
- no phenotypic analysis
- GenomeRNAi human phenotypes for EXT1:
-
- Increased viability
- Increased vaccinia virus (VACV) infection
- shRNA abundance <= 50%
- Mildly decreased CFP-tsO45G cell surface transport
- Decreased human papilloma virus 16 (HPV16) pseudovirus infection
- Decreased viability
- Decreased shRNA abundance
- Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation
Animal Models for EXT1 Gene
Animal Model Products
-
Taconic Biosciences Mouse Models for EXT1
- Cyagen custom Knockout/knockin (KOKI) mouse models for EXT1
-
-
ViGene Biosciences lentiviral particle packaged cDNA for EXT1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for EXT1 gene
- Search ViGene Biosciences for EXT1
CRISPR Products
-
OriGene CRISPR knockouts for EXT1
-
Santa Cruz Biotechnology (SCBT) CRISPR for EXT1
- GenScript: Design CRISPR guide RNA sequences for EXT1
miRNA for EXT1 Gene
- miRTarBase miRNAs that target EXT1
-
- hsa-mir-375 (MIRT020052)
- hsa-mir-320a (MIRT044632)
- hsa-mir-218-5p (MIRT440702)
- hsa-mir-5196-5p (MIRT445450)
- hsa-mir-4747-5p (MIRT445452)
- hsa-mir-6077 (MIRT445453)
- hsa-mir-6846-3p (MIRT445454)
- hsa-mir-6859-3p (MIRT445455)
- hsa-mir-4646-5p (MIRT445456)
- hsa-mir-204-3p (MIRT445457)
- hsa-mir-646 (MIRT445458)
- hsa-mir-2278 (MIRT445459)
- hsa-mir-510-3p (MIRT558015)
- hsa-mir-513b-5p (MIRT558016)
- hsa-mir-4524b-5p (MIRT558017)
- hsa-mir-4524a-5p (MIRT558018)
- hsa-mir-4769-5p (MIRT558019)
- hsa-mir-4654 (MIRT558020)
- hsa-mir-6778-5p (MIRT558021)
- hsa-mir-1233-5p (MIRT558022)
- hsa-mir-4648 (MIRT558023)
- hsa-mir-6739-5p (MIRT558024)
- hsa-mir-6733-5p (MIRT558025)
- hsa-mir-3153 (MIRT558026)
- hsa-mir-6124 (MIRT558027)
- hsa-mir-4668-5p (MIRT558028)
- hsa-mir-134-3p (MIRT558029)
- hsa-mir-7114-5p (MIRT558030)
- hsa-mir-5003-5p (MIRT558031)
- hsa-mir-654-3p (MIRT558032)
- hsa-mir-6074 (MIRT558033)
- hsa-mir-503-5p (MIRT558034)
- hsa-mir-6838-5p (MIRT558035)
- hsa-mir-497-5p (MIRT558036)
- hsa-mir-424-5p (MIRT558037)
- hsa-mir-195-5p (MIRT558038)
- hsa-mir-16-5p (MIRT558039)
- hsa-mir-15b-5p (MIRT558040)
- hsa-mir-15a-5p (MIRT558041)
- hsa-mir-203a-3p (MIRT558042)
- hsa-mir-186-5p (MIRT567644)
- hsa-mir-3133 (MIRT567645)
miRNA Products
- Search ViGene Biosciences for EXT1
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for EXT1
- Browse OriGene Inhibitory RNA Products For EXT1
-
ViGene Biosciences ready-to-package AAV shRNAs for EXT1 gene
Clone Products
- Sino Biological Human cDNA Clone for EXT1
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for EXT1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for EXT1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
Horizon Cell Lines for EXT1
-
ViGene Biosciences adenoviral particle packaged cDNA for EXT1 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for EXT1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for EXT1 gene
Flow Cytometry Products
No data available for Transcription Factor Targets and HOMER Transcription for EXT1 Gene
Localization for EXT1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for EXT1 Gene
- 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.
| Compartment | Confidence |
|---|---|
| endoplasmic reticulum | 5 |
| golgi apparatus | 5 |
| extracellular | 2 |
| plasma membrane | 1 |
| lysosome | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000139 | Golgi membrane | TAS | 12907669 |
| GO:0005783 | endoplasmic reticulum | IEA,IDA | 9620772 |
| GO:0005789 | endoplasmic reticulum membrane | NAS | 9620772 |
| GO:0005794 | Golgi apparatus | IDA | 10639137 |
| GO:0016020 | membrane | IEA | -- |
Pathways & Interactions for EXT1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Glycosaminoglycan metabolism | ||
| 2 | heparan sulfate biosynthesis | ||
| 3 | Metabolism |
.37
|
|
| 4 | Mesodermal Commitment Pathway | ||
Pathways by source for EXT1 Gene
4 BioSystems pathways for EXT1 Gene
5 Reactome pathways for EXT1 Gene
2 KEGG pathways for EXT1 Gene
UniProtKB/Swiss-Prot Q16394-EXT1_HUMAN
- Pathway: Protein modification; protein glycosylation.
Interacting Proteins for EXT1 Gene
| 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 | IDA,TAS | -- |
| GO:0006486 | protein glycosylation | IEA | -- |
| GO:0007165 | signal transduction | TAS | 10878610 |
No data available for SIGNOR curated interactions for EXT1 Gene
Drugs & Compounds for EXT1 Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| Uridine diphosphate-N-acetylglucosamine |
|
528-04-1 |
|
Transcripts for EXT1 Gene
mRNA/cDNA for EXT1 Gene
- (1) REFSEQ mRNAs :
- (5) Additional mRNA sequences :
- (278) Selected AceView cDNA sequences:
- (3) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for EXT1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for EXT1
-
Santa Cruz Biotechnology (SCBT) CRISPR for EXT1
- GenScript: Design CRISPR guide RNA sequences for EXT1
miRNA Products
- Search ViGene Biosciences for EXT1
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for EXT1
- Browse OriGene Inhibitory RNA Products For EXT1
-
ViGene Biosciences ready-to-package AAV shRNAs for EXT1 gene
Clone Products
- Sino Biological Human cDNA Clone for EXT1
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for EXT1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for EXT1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Flow Cytometry Products
| ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||||||||||||||||||||||
| SP2: | |||||||||||||||||||||||||||||
| SP3: | - | - | - |
Expression for EXT1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
- Neural Tube (Nervous System)
-
Blood (Hematopoietic System)
- Proerythroblasts Hematopoietic Bone Marrow
- Monocytes Peripheral Blood
- Lung (Respiratory System)
- Gut Tube (Gastrointestinal Tract)
- Kidney (Urinary System)
- Ovary (Reproductive System)
mRNA differential expression in normal tissues according to GTEx for EXT1 Gene
This gene is overexpressed in Artery - Aorta (x5.2).
This gene is overexpressed in Testis (37.3), Gallbladder (19.1), and Islet of Langerhans (7.8).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for EXT1 Gene
NURSA nuclear receptor signaling pathways regulating expression of EXT1 Gene:
EXT1SOURCE GeneReport for Unigene cluster for EXT1 Gene:
Hs.492618mRNA Expression by UniProt/SwissProt for EXT1 Gene:
Q16394-EXT1_HUMAN
Tissue specificity:
Ubiquitous.
Evidence on tissue expression from TISSUES for EXT1 Gene
- Nervous system(4.7)
- Lung(4.5)
- Muscle(2.4)
- Bone(2.3)
- Skin(2.3)
- Heart(2.2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for EXT1 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- immune
- integumentary
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
- urinary
Organs:
Head and neck:
- brain
- chin
- cranial nerve
- ear
- eye
- face
- forehead
- head
- jaw
- larynx
- lip
- mandible
- maxilla
- mouth
- neck
- nose
- outer ear
- pharynx
- scalp
- skull
- tooth
Thorax:
- chest wall
- clavicle
- heart
- heart valve
- lung
- rib
- rib cage
- scapula
- sternum
- trachea
Abdomen:
- kidney
Pelvis:
- pelvis
- ureter
- urinary bladder
- uterus
- vagina
Limb:
- ankle
- arm
- digit
- elbow
- femur
- fibula
- finger
- foot
- forearm
- hand
- hip
- humerus
- knee
- lower limb
- nail
- radius
- shin
- shoulder
- thigh
- tibia
- toe
- ulna
- upper limb
- wrist
General:
- blood
- blood vessel
- hair
- peripheral nerve
- peripheral nervous system
- skin
- spinal column
- spinal cord
- vertebrae
- white blood cell
Primer Products
-
OriGene qPCR primer pairs for EXT1
-
OriGene qPCR primer pairs and template standards for EXT1
Orthologs for EXT1 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | EXT1 34 35 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | EXT1 35 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | EXT1 35 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | EXT1 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | EXT1 34 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Ext1 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Ext1 34 16 35 |
|
||
| chicken (Gallus gallus) |
Aves | -- 35 |
|
OneToMany | |
| LOC100858205 34 |
|
||||
| -- 35 |
|
OneToMany | |||
| lizard (Anolis carolinensis) |
Reptilia | EXT1 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | ext1 34 |
|
||
| Str.4465 34 |
|
||||
| zebrafish (Danio rerio) |
Actinopterygii | EXT1 (4 of 4) 35 |
|
OneToMany | |
| ext1a 35 |
|
OneToMany | |||
| ext1b 34 |
|
||||
| EXT1 (1 of 4) 35 |
|
OneToMany | |||
| EXT1 (3 of 4) 35 |
|
OneToMany | |||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.6102 34 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | ttv 36 34 35 |
|
||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP010388 34 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | rib-1 36 34 35 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.1939 35 |
|
OneToMany |
- Species where no ortholog for EXT1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Paralogs for EXT1 Gene
(2) SIMAP similar genes for EXT1 Gene using alignment to 7 proteins:
Variants for EXT1 Gene
| SNP ID | Clin | Chr 08 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs119103287 | Pathogenic, Hereditary multiple exostoses 1 (EXT1) [MIM:133700], Hereditary multiple exostoses 1 (EXT1) [MIM:133700] | 117,837,145(-) | TGGTC(A/G/T)CAGGC | nc-transcript-variant, reference, missense | |
| rs119103288 | Pathogenic, Hereditary multiple exostoses 1 (EXT1) [MIM:133700] | 117,837,148(-) | TCGTG(A/G)TCGCA | nc-transcript-variant, reference, missense | |
| rs119103290 | Pathogenic, Hereditary multiple exostoses 1 (EXT1) [MIM:133700] | 117,837,146(-) | GTGGT(C/T)GCAGG | nc-transcript-variant, reference, missense | |
| rs188859975 | untested, Hereditary multiple exostoses 1 (EXT1) [MIM:133700] | 117,819,755(+) | TCACC(A/G)CATGG | nc-transcript-variant, reference, missense | |
| VAR_002370 | Hereditary multiple exostoses 1 (EXT1) [MIM:133700] |
Residual Variation Intolerance Score:
3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
1.23;
24.69% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for EXT1 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EXT1 Gene
Disorders for EXT1 Gene
(27) MalaCards diseases for EXT1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| chondrosarcoma |
|
|
| exostoses, multiple, type 1 |
|
|
| trichorhinophalangeal syndrome, type ii |
|
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| hereditary multiple osteochondromas |
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| hereditary multiple osteochondromatosis, type i |
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Search EXT1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
EXT1_HUMAN- Chondrosarcoma (CHDSA) [MIM:215300]: A malignant neoplasm derived from cartilage cells. Chondrosarcomas range from slow-growing non-metastasizing lesions to highly aggressive metastasizing sarcomas. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Hereditary multiple exostoses 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. {ECO:0000269 PubMed:10441575, ECO:0000269 PubMed:10480354, ECO:0000269 PubMed:11169766, ECO:0000269 PubMed:8981950, ECO:0000269 PubMed:9326317, ECO:0000269 PubMed:9463333, ECO:0000269 PubMed:9521425, ECO:0000269 Ref.10}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Tricho-rhino-phalangeal syndrome 2 (TRPS2) [MIM:150230]: A syndrome that combines the clinical features of tricho-rhino-phalangeal syndrome type 1 and multiple exostoses type 1. Affected individuals manifest multiple dysmorphic facial features including large, laterally protruding ears, a bulbous nose, an elongated upper lip, as well as sparse scalp hair, winged scapulae, multiple cartilaginous exostoses, redundant skin, and mental retardation. Note=The gene represented in this entry is involved in disease pathogenesis. A chromosomal aberration resulting in the loss of functional copies of TRPS1 and EXT1 has been found in TRPS2 patients.
Genatlas disease for EXT1 Gene
exostoses,multiple,1,also associated with trichorhinophalangeal syndrome in Langer-Giedion syndrome (see LGCR)
Relevant External Links for EXT1
Publications for EXT1 Gene
- An optimized DHPLC protocol for molecular testing of the EXT1 and EXT2 genes in hereditary multiple osteochondromas. (PMID: 16283885) Wuyts W. … Vits L. (Clin. Genet. 2005) 3 22 46 64
- 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. (PMID: 15586175) Vink G.R. … Bakker E. (Eur. J. Hum. Genet. 2005) 3 22 46 64
- Diminished levels of the putative tumor suppressor proteins EXT1 and EXT2 in exostosis chondrocytes. (PMID: 11169766) Bernard M.A. … Hecht J.T. (Cell Motil. Cytoskeleton 2001) 3 4 22 64
- Etiological point mutations in the hereditary multiple exostoses gene EXT1: a functional analysis of heparan sulfate polymerase activity. (PMID: 11391482) Cheung P.K. … Duncan G. (Am. J. Hum. Genet. 2001) 3 4 22 64
- Association of EXT1 and EXT2, hereditary multiple exostoses gene products, in Golgi apparatus. (PMID: 10679296) Kobayashi S. … Shirasawa T. (Biochem. Biophys. Res. Commun. 2000) 3 4 22 64
Products for EXT1 Gene
- Browse R&D Systems for Antibodies
- R&D Systems Proteins and Enzymes for EXT1 (Exostosin 1)
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- Custom Antibody ServicesOriGene Antibodies for EXT1
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- OriGene qPCR primer pairs for EXT1
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- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For EXT1
- GenScript: Next-day shipping cDNA ORF clone for EXT1 in any vector
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- GenScript: Design CRISPR guide RNA sequences for EXT1
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- Sino Biological Human cDNA Clone for EXT1
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- Novus Biologicals Antibodies for EXT1
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- Cloud-Clone Corp. Antibodies for EXT1
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- Taconic Biosciences Mouse Models for EXT1
- Find your next knockout model in the Taconic Knockout Repository
- Genetically Engineered Models Available Immediately
- Humanized Mice
- antibodies-online Antibodies for EXT1: See all 59
- antibodies-online Kits for EXT1: See all 12
- antibodies-online Proteins for EXT1: See all 8
- Search antibodies-online for peptides
- GeneTex EXT1 antibody for EXT1
- Search GeneTex for Proteins for EXT1
- ViGene Biosciences adenoviral particle packaged cDNA for EXT1 gene
- ViGene Biosciences lentiviral particle packaged cDNA for EXT1 gene
- ViGene Biosciences ready-to-package AAV shRNAs for EXT1 gene
- Search ViGene Biosciences for EXT1
- Santa Cruz Biotechnology (SCBT) Antibodies for EXT1
- Search Santa Cruz Biotechnology (SCBT) for EXT1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for EXT1
- Horizon Cell Lines for EXT1
- Cyagen custom Knockout/knockin (KOKI) mouse models for EXT1
- VectorBuilder custom plasmid, inducible vectors for EXT1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for EXT1
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
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