Details for: EXT1

Gene ID: 2131

Symbol: EXT1

Ensembl ID: ENSG00000182197

Description: exostosin glycosyltransferase 1

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 574.6239
    Cell Significance Index: -89.3800
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 352.7393
    Cell Significance Index: -89.4700
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 210.2695
    Cell Significance Index: -86.6200
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 188.5527
    Cell Significance Index: -89.0200
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 177.2030
    Cell Significance Index: -71.9900
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 75.5282
    Cell Significance Index: -72.1100
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 72.5655
    Cell Significance Index: -89.4700
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 32.2451
    Cell Significance Index: -86.3800
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 26.2498
    Cell Significance Index: -57.4500
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 22.6784
    Cell Significance Index: -89.4900
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 22.2305
    Cell Significance Index: -68.2800
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 8.2715
    Cell Significance Index: 231.1600
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 5.9373
    Cell Significance Index: 115.8800
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 4.5129
    Cell Significance Index: 253.2400
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 3.7306
    Cell Significance Index: 740.3600
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: 3.1521
    Cell Significance Index: 27.9800
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 2.9835
    Cell Significance Index: 183.3800
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 2.8942
    Cell Significance Index: 69.4100
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 2.8863
    Cell Significance Index: 578.9900
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 2.8657
    Cell Significance Index: 82.5700
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 2.7410
    Cell Significance Index: 78.2200
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 2.4119
    Cell Significance Index: 60.2900
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 2.3306
    Cell Significance Index: 33.5200
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 2.2794
    Cell Significance Index: 31.1000
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.9851
    Cell Significance Index: 152.3300
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.8714
    Cell Significance Index: 671.2300
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 1.7666
    Cell Significance Index: 29.7600
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 1.6733
    Cell Significance Index: 1157.3300
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 1.4515
    Cell Significance Index: 65.7900
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 1.2352
    Cell Significance Index: 31.7500
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.8315
    Cell Significance Index: 528.0600
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.7515
    Cell Significance Index: 122.2300
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.7183
    Cell Significance Index: 31.7700
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.6566
    Cell Significance Index: 24.8700
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.6375
    Cell Significance Index: 22.4000
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.6191
    Cell Significance Index: 16.5900
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.6100
    Cell Significance Index: 8.7600
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.5466
    Cell Significance Index: 67.2100
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.4810
    Cell Significance Index: 905.7200
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.4680
    Cell Significance Index: 8.0200
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.4060
    Cell Significance Index: 179.4900
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.3953
    Cell Significance Index: 26.5800
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.3717
    Cell Significance Index: 168.6900
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.3635
    Cell Significance Index: 328.1800
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.3630
    Cell Significance Index: 65.4400
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.3314
    Cell Significance Index: 180.9700
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.3130
    Cell Significance Index: 577.3400
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.2691
    Cell Significance Index: 29.2700
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.2170
    Cell Significance Index: 334.0900
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0915
    Cell Significance Index: 124.3900
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.0659
    Cell Significance Index: 6.5200
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.0114
    Cell Significance Index: 0.6800
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: -0.0178
    Cell Significance Index: -3.3900
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0365
    Cell Significance Index: -5.3100
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0709
    Cell Significance Index: -52.4900
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0791
    Cell Significance Index: -49.3900
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0815
    Cell Significance Index: -11.1900
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0950
    Cell Significance Index: -69.6600
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.1038
    Cell Significance Index: -58.5500
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.1120
    Cell Significance Index: -14.3600
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.1201
    Cell Significance Index: -90.9000
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.1226
    Cell Significance Index: -20.9400
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: -0.1241
    Cell Significance Index: -8.5900
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.1538
    Cell Significance Index: -2.2700
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.2154
    Cell Significance Index: -11.1900
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.2647
    Cell Significance Index: -76.1600
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.3100
    Cell Significance Index: -65.2900
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.4851
    Cell Significance Index: -34.3100
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.4929
    Cell Significance Index: -56.4700
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.5026
    Cell Significance Index: -58.5700
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.5261
    Cell Significance Index: -67.9700
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.6347
    Cell Significance Index: -9.3700
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.6350
    Cell Significance Index: -66.1200
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.6434
    Cell Significance Index: -75.8800
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.6549
    Cell Significance Index: -30.7800
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.7210
    Cell Significance Index: -73.6600
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.7902
    Cell Significance Index: -17.1200
  • Cell Name: hippocampal interneuron (CL1001569)
    Fold Change: -0.8266
    Cell Significance Index: -10.7200
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.8280
    Cell Significance Index: -94.5200
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.8719
    Cell Significance Index: -23.2800
  • Cell Name: midget ganglion cell of retina (CL4023188)
    Fold Change: -0.8765
    Cell Significance Index: -9.1300
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.8891
    Cell Significance Index: -54.5100
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.9951
    Cell Significance Index: -74.1700
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.9997
    Cell Significance Index: -46.6100
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -1.0160
    Cell Significance Index: -80.4700
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -1.0442
    Cell Significance Index: -54.3900
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -1.0511
    Cell Significance Index: -33.6700
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -1.0940
    Cell Significance Index: -35.8200
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -1.1200
    Cell Significance Index: -70.5900
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -1.1632
    Cell Significance Index: -33.3500
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -1.1835
    Cell Significance Index: -23.7600
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -1.2427
    Cell Significance Index: -26.8500
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -1.2573
    Cell Significance Index: -26.8800
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -1.2657
    Cell Significance Index: -40.3100
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -1.2769
    Cell Significance Index: -27.1000
  • Cell Name: adipocyte of breast (CL0002617)
    Fold Change: -1.2889
    Cell Significance Index: -16.2300
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -1.3491
    Cell Significance Index: -87.0400
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -1.4034
    Cell Significance Index: -27.7500
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -1.4151
    Cell Significance Index: -20.2700
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -1.5717
    Cell Significance Index: -82.5200

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** EXT1 is a type II transmembrane glycosyltransferase that belongs to the exostosin glycosyltransferase family. It is composed of 11 transmembrane domains and a large extracellular domain that contains the active site for glycosyltransferase activity. EXT1 is specifically involved in the transfer of glucuronic acid or iduronic acid to the growing GAG chain, resulting in the formation of chondroitin sulfate or dermatan sulfate, respectively. **Pathways and Functions** EXT1 is involved in several key biological pathways, including: 1. **Glycosaminoglycan biosynthesis**: EXT1 is essential for the production of chondroitin sulfate and dermatan sulfate, which are critical components of the extracellular matrix. 2. **Cell adhesion and migration**: EXT1 modulates cell adhesion and migration by regulating the expression of cell surface proteoglycans and glycosaminoglycans. 3. **Signaling pathways**: EXT1 interacts with various signaling molecules, including growth factors, cytokines, and chemokines, to regulate cellular responses to environmental stimuli. 4. **Development and tissue organization**: EXT1 plays a crucial role in the development and organization of multiple tissues and organs, including the nervous system, bone, cartilage, and skin. **Clinical Significance** Dysregulation of EXT1 has been implicated in several diseases, including: 1. **Exostoses**: A genetic disorder characterized by the formation of bony growths on the surface of bones. 2. **Trichorrhexis nodosa**: A genetic disorder affecting the hair follicles, leading to brittle hair and skin fragility. 3. **Chondrodysplasias**: A group of genetic disorders affecting the development of cartilage and bone. 4. **Other diseases**: EXT1 has also been implicated in various other diseases, including cancer, cardiovascular disease, and neurological disorders. In conclusion, EXT1 is a critical enzyme involved in the biosynthesis and modification of glycosaminoglycans, and its dysregulation has been implicated in several diseases. Further research is needed to fully understand the mechanisms of EXT1 function and the consequences of its dysregulation.

Genular Protein ID: 1756530988

Symbol: EXT1_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

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. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.