Details for: EXT1

Gene ID: 2131

Symbol: EXT1

Ensembl ID: ENSG00000182197

Description: exostosin glycosyltransferase 1

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 5.24
    Marker Score: 17153
  • Cell Name: alveolar type 2 fibroblast cell (CL4028006)
    Fold Change: 4.77
    Marker Score: 2654
  • Cell Name: epithelial cell of lower respiratory tract (CL0002632)
    Fold Change: 4.75
    Marker Score: 19803
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 4.59
    Marker Score: 5201
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 4.48
    Marker Score: 79444
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 4.2
    Marker Score: 3631
  • Cell Name: stellate neuron (CL0000122)
    Fold Change: 3.89
    Marker Score: 20880
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 3.74
    Marker Score: 7186
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: 3.49
    Marker Score: 3092
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 3.15
    Marker Score: 14559
  • Cell Name: cardiac neuron (CL0010022)
    Fold Change: 3.02
    Marker Score: 3767
  • Cell Name: neuronal brush cell (CL0000555)
    Fold Change: 2.99
    Marker Score: 10032
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 2.99
    Marker Score: 2302
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 2.89
    Marker Score: 1521
  • Cell Name: lung goblet cell (CL1000143)
    Fold Change: 2.87
    Marker Score: 827.5
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 2.81
    Marker Score: 42033
  • Cell Name: contractile cell (CL0000183)
    Fold Change: 2.73
    Marker Score: 1479
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 2.66
    Marker Score: 20363
  • Cell Name: macroglial cell (CL0000126)
    Fold Change: 2.65
    Marker Score: 6081
  • Cell Name: cerebellar granule cell precursor (CL0002362)
    Fold Change: 2.63
    Marker Score: 1475
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 2.62
    Marker Score: 88633
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 2.61
    Marker Score: 41849
  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: 2.56
    Marker Score: 1780
  • Cell Name: granule cell (CL0000120)
    Fold Change: 2.53
    Marker Score: 19082
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 2.52
    Marker Score: 95855
  • Cell Name: pyramidal neuron (CL0000598)
    Fold Change: 2.51
    Marker Score: 4223
  • Cell Name: neuron associated cell (sensu Vertebrata) (CL0000123)
    Fold Change: 2.51
    Marker Score: 13185
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 2.5
    Marker Score: 732
  • Cell Name: renal interstitial pericyte (CL1001318)
    Fold Change: 2.44
    Marker Score: 2330
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 2.42
    Marker Score: 10019
  • Cell Name: endocardial cell (CL0002350)
    Fold Change: 2.36
    Marker Score: 1332
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 2.33
    Marker Score: 86080
  • Cell Name: skin fibroblast (CL0002620)
    Fold Change: 2.32
    Marker Score: 601
  • Cell Name: subcutaneous fat cell (CL0002521)
    Fold Change: 2.3
    Marker Score: 842
  • Cell Name: chromaffin cell (CL0000166)
    Fold Change: 2.29
    Marker Score: 3224
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 2.28
    Marker Score: 45452
  • Cell Name: endothelial cell of vascular tree (CL0002139)
    Fold Change: 2.28
    Marker Score: 3311
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 2.26
    Marker Score: 48210
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: 2.26
    Marker Score: 1852
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 2.25
    Marker Score: 4950
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: 2.25
    Marker Score: 849
  • Cell Name: CNS interneuron (CL0000402)
    Fold Change: 2.24
    Marker Score: 1078
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 2.24
    Marker Score: 3016
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 2.23
    Marker Score: 810
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: 2.21
    Marker Score: 1660
  • Cell Name: brainstem motor neuron (CL2000047)
    Fold Change: 2.17
    Marker Score: 1260
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 2.12
    Marker Score: 8865
  • Cell Name: fat cell (CL0000136)
    Fold Change: 2.1
    Marker Score: 1175
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 2.09
    Marker Score: 2310
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 2.05
    Marker Score: 126242
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 2.01
    Marker Score: 44903
  • Cell Name: endothelial cell of pericentral hepatic sinusoid (CL0019022)
    Fold Change: 1.97
    Marker Score: 2111
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 1.94
    Marker Score: 1132
  • Cell Name: neuron (CL0000540)
    Fold Change: 1.94
    Marker Score: 7886
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 1.92
    Marker Score: 738
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.88
    Marker Score: 7282
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.88
    Marker Score: 17831
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 1.88
    Marker Score: 2022
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 1.87
    Marker Score: 10045
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.87
    Marker Score: 16022
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 1.85
    Marker Score: 6566.5
  • Cell Name: ganglion interneuron (CL0000397)
    Fold Change: 1.83
    Marker Score: 555
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: 1.83
    Marker Score: 1202
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 1.83
    Marker Score: 2210
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 1.81
    Marker Score: 6451
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 1.8
    Marker Score: 16939
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 1.78
    Marker Score: 1039
  • Cell Name: acinar cell (CL0000622)
    Fold Change: 1.77
    Marker Score: 1247
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 1.76
    Marker Score: 868
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 1.74
    Marker Score: 1809
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 1.69
    Marker Score: 10869
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.69
    Marker Score: 17405
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 1.67
    Marker Score: 3403
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 1.67
    Marker Score: 3994
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 1.64
    Marker Score: 520
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.63
    Marker Score: 2515
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: 1.61
    Marker Score: 4583.5
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: 1.6
    Marker Score: 1927
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 1.59
    Marker Score: 6857
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 1.56
    Marker Score: 1797
  • Cell Name: smooth muscle cell of prostate (CL1000487)
    Fold Change: 1.55
    Marker Score: 394
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 1.54
    Marker Score: 1015
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 1.53
    Marker Score: 912
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 1.53
    Marker Score: 519
  • Cell Name: sympathetic neuron (CL0011103)
    Fold Change: 1.52
    Marker Score: 503
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 1.51
    Marker Score: 2132
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 1.48
    Marker Score: 465
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 1.47
    Marker Score: 3471
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.46
    Marker Score: 1534
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.46
    Marker Score: 167056
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 1.45
    Marker Score: 1257
  • Cell Name: cholangiocyte (CL1000488)
    Fold Change: 1.43
    Marker Score: 536
  • Cell Name: bronchial epithelial cell (CL0002328)
    Fold Change: 1.42
    Marker Score: 377
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 1.42
    Marker Score: 691
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 1.42
    Marker Score: 1754
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 1.41
    Marker Score: 455
  • Cell Name: endocrine cell (CL0000163)
    Fold Change: 1.38
    Marker Score: 713.5
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: 1.36
    Marker Score: 594
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 1.36
    Marker Score: 570
  • Cell Name: mesothelial cell of epicardium (CL0011019)
    Fold Change: 1.36
    Marker Score: 436

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Other Information

**Key characteristics:** * EXT1 is a transmembrane protein with a molecular weight of approximately 130 kDa. * It is expressed in a variety of cell types, including hepatocytes, fibroblasts, epithelial cells, and immune cells. * EXT1 is a key enzyme in the synthesis of exostoses, which are glycoproteins that are involved in cell adhesion, cell migration, and tissue remodeling. **Pathways and functions:** * EXT1 is involved in the synthesis of heparan sulfate proteoglycans, which are important for maintaining the structure of epithelial tissues and for regulating cell adhesion. * It is also involved in the synthesis of decorin, a glycoprotein that is involved in cell adhesion and migration. * EXT1 is a key enzyme in the degradation of heparin, a glycoprotein that is involved in inflammation and thrombosis. **Clinical significance:** * Mutations in the EXT1 gene have been linked to a number of human diseases, including exostoses, which are characterized by the formation of soft, flexible tissues that can lead to a variety of symptoms, including joint pain, swelling, and difficulty breathing. * In some cases, EXT1 mutations can be caused by mutations in other genes, which can lead to the development of a more severe form of exostosis. * Understanding the role of EXT1 in glycosaminoglycan metabolism has important implications for the development of new therapies for diseases that are caused by defects in this gene. **Additional information:** * EXT1 is a member of the EXT family of glycosyltransferases, which are enzymes that transfer a sugar molecule from one molecule to another. * The EXT family of enzymes is involved in a variety of cellular processes, including cell adhesion, cell migration, and tissue remodeling.

Genular Protein ID: 1756530988

Symbol: EXT1_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q16394 B2R7V2 Q9BVI9

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 2 Bgee 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CAZy 2 CCDS 1 CORUM 1 CTD 1 ChEBI 19 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EC 1 EMBL 5 EMDB 6 EPD 1 Ensembl 1 ExpressionAtlas 1 GO 96 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 2 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 6 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 3 OrthoDB 1 PANTHER 2 PDB 18 PDBsum 6 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 3 RefSeq 1 Rhea 4 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 UniPathway 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 7550340

Title: Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1).

PubMed ID: 7550340

DOI: 10.1038/ng1095-137

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 9119404

Title: Genomic organization and promoter structure of the human EXT1 gene.

PubMed ID: 9119404

DOI: 10.1006/geno.1996.4577

PubMed ID: 9620772

Title: The putative tumour suppressor EXT1 alters the expression of cell-surface heparan sulfate.

PubMed ID: 9620772

DOI: 10.1038/514

PubMed ID: 10639137

Title: The putative tumor suppressors EXT1 and EXT2 form a stable complex that accumulates in the Golgi apparatus and catalyzes the synthesis of heparan sulfate.

PubMed ID: 10639137

DOI: 10.1073/pnas.97.2.668

PubMed ID: 10679296

Title: Association of EXT1 and EXT2, hereditary multiple exostoses gene products, in Golgi apparatus.

PubMed ID: 10679296

DOI: 10.1006/bbrc.2000.2219

PubMed ID: 22660413

Title: Syndecan-syntenin-ALIX regulates the biogenesis of exosomes.

PubMed ID: 22660413

DOI: 10.1038/ncb2502

PubMed ID: 35137078

Title: A dominant negative splice variant of the heparan sulfate biosynthesis enzyme NDST1 reduces heparan sulfate sulfation.

PubMed ID: 35137078

DOI: 10.1093/glycob/cwac004

PubMed ID: 36402845

Title: Structure of the human heparan sulfate polymerase complex EXT1-EXT2.

PubMed ID: 36402845

DOI: 10.1038/s41467-022-34882-6

PubMed ID: 36593275

Title: Structural basis for heparan sulfate co-polymerase action by the EXT1-2 complex.

PubMed ID: 36593275

DOI: 10.1038/s41589-022-01220-2

PubMed ID: 8981950

Title: Hereditary multiple exostoses (EXT): mutational studies of familial EXT1 cases and EXT-associated malignancies.

PubMed ID: 8981950

PubMed ID: 9326317

Title: Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses.

PubMed ID: 9326317

DOI: 10.1086/515505

PubMed ID: 9463333

Title: Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses.

PubMed ID: 9463333

DOI: 10.1086/301726

PubMed ID: 9521425

Title: Evaluation of locus heterogeneity and EXT1 mutations in 34 families with hereditary multiple exostoses.

PubMed ID: 9521425

DOI: 10.1002/(sici)1098-1004(1998)11:3<231::aid-humu8>3.0.co;2-k

PubMed ID: 10441575

Title: EXT-mutation analysis and loss of heterozygosity in sporadic and hereditary osteochondromas and secondary chondrosarcomas.

PubMed ID: 10441575

DOI: 10.1086/302532

PubMed ID: 10480354

Title: Mutation analysis of hereditary multiple exostoses in the Chinese.

PubMed ID: 10480354

DOI: 10.1007/s004399900058

PubMed ID: 11169766

Title: Diminished levels of the putative tumor suppressor proteins EXT1 and EXT2 in exostosis chondrocytes.

PubMed ID: 11169766

DOI: 10.1002/1097-0169(200102)48:2<149::aid-cm1005>3.0.co;2-3

PubMed ID: 11391482

Title: Etiological point mutations in the hereditary multiple exostoses gene EXT1: a functional analysis of heparan sulfate polymerase activity.

PubMed ID: 11391482

DOI: 10.1086/321278

Sequence Information:

  • Length: 746
  • Mass: 86255
  • Checksum: 842CD7E6C1312C1A
  • Sequence:
    • MQAKKRYFIL LSAGSCLALL FYFGGLQFRA SRSHSRREEH SGRNGLHHPS PDHFWPRFPD 
ALRPFVPWDQ LENEDSSVHI SPRQKRDANS SIYKGKKCRM ESCFDFTLCK KNGFKVYVYP 
QQKGEKIAES YQNILAAIEG SRFYTSDPSQ ACLFVLSLDT LDRDQLSPQY VHNLRSKVQS 
LHLWNNGRNH LIFNLYSGTW PDYTEDVGFD IGQAMLAKAS ISTENFRPNF DVSIPLFSKD 
HPRTGGERGF LKFNTIPPLR KYMLVFKGKR YLTGIGSDTR NALYHVHNGE DVVLLTTCKH 
GKDWQKHKDS RCDRDNTEYE KYDYREMLHN ATFCLVPRGR RLGSFRFLEA LQAACVPVML 
SNGWELPFSE VINWNQAAVI GDERLLLQIP STIRSIHQDK ILALRQQTQF LWEAYFSSVE 
KIVLTTLEII QDRIFKHISR NSLIWNKHPG GLFVLPQYSS YLGDFPYYYA NLGLKPPSKF 
TAVIHAVTPL VSQSQPVLKL LVAAAKSQYC AQIIVLWNCD KPLPAKHRWP ATAVPVVVIE 
GESKVMSSRF LPYDNIITDA VLSLDEDTVL STTEVDFAFT VWQSFPERIV GYPARSHFWD 
NSKERWGYTS KWTNDYSMVL TGAAIYHKYY HYLYSHYLPA SLKNMVDQLA NCEDILMNFL 
VSAVTKLPPI KVTQKKQYKE TMMGQTSRAS RWADPDHFAQ RQSCMNTFAS WFGYMPLIHS 
QMRLDPVLFK DQVSILRKKY RDIERL

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.