Details for: EXTL3

Gene ID: 2137

Symbol: EXTL3

Ensembl ID: ENSG00000012232

Description: exostosin like glycosyltransferase 3

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: 143.4952
    Cell Significance Index: -22.3200
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 87.9779
    Cell Significance Index: -22.3200
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 49.2669
    Cell Significance Index: -23.2600
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 19.5655
    Cell Significance Index: -18.6800
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 18.1921
    Cell Significance Index: -22.4300
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 8.1490
    Cell Significance Index: -21.8300
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 6.9413
    Cell Significance Index: -21.3200
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 5.7272
    Cell Significance Index: -22.6000
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 4.2173
    Cell Significance Index: -9.2300
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 1.8318
    Cell Significance Index: 363.5300
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.0542
    Cell Significance Index: 211.4800
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.9914
    Cell Significance Index: 76.0800
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.7722
    Cell Significance Index: 76.3900
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 0.7222
    Cell Significance Index: 10.6600
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.6959
    Cell Significance Index: 628.3600
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.6820
    Cell Significance Index: 19.0600
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.6751
    Cell Significance Index: 242.1500
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.6652
    Cell Significance Index: 25.1900
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.5837
    Cell Significance Index: 25.8200
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.5245
    Cell Significance Index: 29.4300
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.4351
    Cell Significance Index: 78.4400
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.4288
    Cell Significance Index: 10.7200
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.3852
    Cell Significance Index: 266.4300
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.3843
    Cell Significance Index: 41.8000
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.3623
    Cell Significance Index: 7.7500
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 0.3466
    Cell Significance Index: 9.8900
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.3459
    Cell Significance Index: 56.2500
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.3188
    Cell Significance Index: 19.6000
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.3117
    Cell Significance Index: 36.3200
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.2579
    Cell Significance Index: 31.7200
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.2249
    Cell Significance Index: 13.5000
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.2247
    Cell Significance Index: 6.0200
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.1875
    Cell Significance Index: 11.8200
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 0.1847
    Cell Significance Index: 4.4300
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.1448
    Cell Significance Index: 10.0200
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 0.1271
    Cell Significance Index: 2.4800
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.0970
    Cell Significance Index: 18.4600
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0874
    Cell Significance Index: 47.7500
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.0867
    Cell Significance Index: 6.1300
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0823
    Cell Significance Index: 2.3700
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0735
    Cell Significance Index: 32.5000
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.0595
    Cell Significance Index: 1.0200
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.0551
    Cell Significance Index: 2.5700
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0532
    Cell Significance Index: 33.7800
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0525
    Cell Significance Index: 98.8500
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0426
    Cell Significance Index: 7.2700
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0336
    Cell Significance Index: 15.2700
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.0327
    Cell Significance Index: 2.2000
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0300
    Cell Significance Index: 40.8200
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0153
    Cell Significance Index: 23.5400
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.0129
    Cell Significance Index: 1.7700
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.0113
    Cell Significance Index: 0.5900
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: 0.0097
    Cell Significance Index: 0.0600
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0090
    Cell Significance Index: 16.6700
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.0056
    Cell Significance Index: 0.2600
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.0008
    Cell Significance Index: 0.0900
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0056
    Cell Significance Index: -4.1500
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0093
    Cell Significance Index: -5.8300
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0175
    Cell Significance Index: -2.5500
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0207
    Cell Significance Index: -11.7000
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0213
    Cell Significance Index: -15.6400
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0213
    Cell Significance Index: -0.7500
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0279
    Cell Significance Index: -21.1000
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.0468
    Cell Significance Index: -2.4300
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.0589
    Cell Significance Index: -0.8700
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0638
    Cell Significance Index: -13.4400
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0647
    Cell Significance Index: -18.6300
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0701
    Cell Significance Index: -8.9800
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.1106
    Cell Significance Index: -14.3000
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.1127
    Cell Significance Index: -12.8700
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.1179
    Cell Significance Index: -3.0300
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.1445
    Cell Significance Index: -14.7700
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.1531
    Cell Significance Index: -18.0600
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.1560
    Cell Significance Index: -1.8600
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1676
    Cell Significance Index: -17.4500
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.1897
    Cell Significance Index: -8.9200
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.2010
    Cell Significance Index: -4.1700
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.2081
    Cell Significance Index: -2.9800
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.2093
    Cell Significance Index: -13.5100
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.2200
    Cell Significance Index: -16.4000
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.2322
    Cell Significance Index: -4.9500
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.2342
    Cell Significance Index: -3.9200
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.2367
    Cell Significance Index: -7.7500
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2578
    Cell Significance Index: -20.4200
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.3112
    Cell Significance Index: -8.3100
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.3176
    Cell Significance Index: -6.7400
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.3190
    Cell Significance Index: -16.7500
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.3352
    Cell Significance Index: -7.3400
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.3434
    Cell Significance Index: -7.4400
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.3721
    Cell Significance Index: -11.8500
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.3913
    Cell Significance Index: -23.9900
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.4049
    Cell Significance Index: -14.0700
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.4229
    Cell Significance Index: -8.4900
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.4329
    Cell Significance Index: -8.5600
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.4342
    Cell Significance Index: -10.8300
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: -0.4443
    Cell Significance Index: -4.8400
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -0.4478
    Cell Significance Index: -10.9300
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.4832
    Cell Significance Index: -10.4400
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.4918
    Cell Significance Index: -17.2300
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.5036
    Cell Significance Index: -16.1300

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:** 1. **Glycosyltransferase activity:** EXTL3 is a glycosyltransferase enzyme that catalyzes the transfer of glucuronic acid and N-acetylglucosamine to the growing HSPG chain, enabling the formation of complex proteoglycans. 2. **Expression in various cell types:** EXTL3 is highly expressed in neurons, including near-projecting glutamatergic cortical neurons, L6b glutamatergic cortical neurons, and GABAergic cortical interneurons. It is also expressed in cardiac muscle cells, immature innate lymphoid cells, and other cell types. 3. **Regulation of cellular processes:** EXTL3 is involved in the regulation of cellular responses to stimuli, stress, and inflammatory responses, highlighting its role in maintaining tissue homeostasis. **Pathways and Functions:** 1. **Cellular responses to stimuli:** EXTL3 is involved in the regulation of cellular responses to stimuli, including the activation of signaling pathways such as the phosphatidylinositol 3-kinase/protein kinase B (PI3K/Akt) pathway. 2. **Negative regulation of inflammatory response:** EXTL3 has been shown to negatively regulate the production of cytokines involved in the inflammatory response, suggesting its role in maintaining immune homeostasis. 3. **Golgi apparatus and endoplasmic reticulum:** EXTL3 is localized to the Golgi apparatus and endoplasmic reticulum, where it plays a crucial role in the synthesis of HSPGs. 4. **Unfolded protein response (UPR):** EXTL3 is involved in the regulation of the unfolded protein response (UPR), which is activated in response to endoplasmic reticulum stress. **Clinical Significance:** 1. **Inflammatory disorders:** The negative regulation of inflammatory responses by EXTL3 suggests its potential role in the pathogenesis of inflammatory disorders, such as arthritis and asthma. 2. **Neurological disorders:** The expression of EXTL3 in neurons and its involvement in cellular responses to stimuli and stress suggest its potential role in neurological disorders, such as Alzheimer's disease and Parkinson's disease. 3. **Cardiovascular disease:** The expression of EXTL3 in cardiac muscle cells and its involvement in cellular responses to stimuli and stress suggest its potential role in cardiovascular disease. 4. **Cancer:** The regulation of cellular responses to stimuli and stress by EXTL3 may also have implications for cancer research, where dysregulation of cellular responses can contribute to tumorigenesis. In conclusion, EXTL3 is a glycosyltransferase enzyme that plays a crucial role in the synthesis of HSPGs and the regulation of cellular responses to stimuli, stress, and inflammatory responses. Its widespread expression in various cell types and its involvement in various cellular processes highlight its importance in maintaining tissue homeostasis. Further research is necessary to fully elucidate the role of EXTL3 in human disease and to explore its potential as a therapeutic target.

Genular Protein ID: 4044572015

Symbol: EXTL3_HUMAN

Name: Glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 9479495

Title: Identification of a third EXT-like gene (EXTL3) belonging to the EXT gene family.

PubMed ID: 9479495

DOI: 10.1006/geno.1997.5101

PubMed ID: 9473480

Title: Structure, chromosomal location, and expression profile of EXTR1 and EXTR2, new members of the multiple exostoses gene family.

PubMed ID: 9473480

DOI: 10.1006/bbrc.1997.8062

PubMed ID: 9628581

Title: Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.

PubMed ID: 9628581

DOI: 10.1093/dnares/5.1.31

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: 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: 11390981

Title: Human tumor suppressor EXT gene family members EXTL1 and EXTL3 encode alpha 1,4- N-acetylglucosaminyltransferases that likely are involved in heparan sulfate/ heparin biosynthesis.

PubMed ID: 11390981

DOI: 10.1073/pnas.131188498

PubMed ID: 19158046

Title: Discovery of a human peptide sequence signaling islet neogenesis.

PubMed ID: 19158046

DOI: 10.4158/ep.14.9.1075

PubMed ID: 22727489

Title: The antimicrobial protein REG3A regulates keratinocyte proliferation and differentiation after skin injury.

PubMed ID: 22727489

DOI: 10.1016/j.immuni.2012.04.010

PubMed ID: 27830702

Title: Hyperglycaemia inhibits REG3A expression to exacerbate TLR3-mediated skin inflammation in diabetes.

PubMed ID: 27830702

DOI: 10.1038/ncomms13393

PubMed ID: 28132690

Title: Mutations in EXTL3 cause neuro-immuno-skeletal dysplasia syndrome.

PubMed ID: 28132690

DOI: 10.1016/j.ajhg.2017.01.013

PubMed ID: 28148688

Title: EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay.

PubMed ID: 28148688

DOI: 10.1084/jem.20161525

PubMed ID: 29346724

Title: Structural and Biophysical Characterization of Human EXTL3: Domain Organization, Glycosylation, and Solution Structure.

PubMed ID: 29346724

DOI: 10.1021/acs.biochem.7b00557

PubMed ID: 34099862

Title: REG3A/REG3B promotes acinar to ductal metaplasia through binding to EXTL3 and activating the RAS-RAF-MEK-ERK signaling pathway.

PubMed ID: 34099862

DOI: 10.1038/s42003-021-02193-z

PubMed ID: 35676258

Title: The structure of EXTL3 helps to explain the different roles of bi-domain exostosins in heparan sulfate synthesis.

PubMed ID: 35676258

DOI: 10.1038/s41467-022-31048-2

PubMed ID: 28397838

Title: Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families.

PubMed ID: 28397838

DOI: 10.1038/mp.2017.60

Sequence Information:

  • Length: 919
  • Mass: 104749
  • Checksum: 200ADD4DAB4A39FD
  • Sequence:
  • MTGYTMLRNG GAGNGGQTCM LRWSNRIRLT WLSFTLFVIL VFFPLIAHYY LTTLDEADEA 
    GKRIFGPRVG NELCEVKHVL DLCRIRESVS EELLQLEAKR QELNSEIAKL NLKIEACKKS 
    IENAKQDLLQ LKNVISQTEH SYKELMAQNQ PKLSLPIRLL PEKDDAGLPP PKATRGCRLH 
    NCFDYSRCPL TSGFPVYVYD SDQFVFGSYL DPLVKQAFQA TARANVYVTE NADIACLYVI 
    LVGEMQEPVV LRPAELEKQL YSLPHWRTDG HNHVIINLSR KSDTQNLLYN VSTGRAMVAQ 
    STFYTVQYRP GFDLVVSPLV HAMSEPNFME IPPQVPVKRK YLFTFQGEKI ESLRSSLQEA 
    RSFEEEMEGD PPADYDDRII ATLKAVQDSK LDQVLVEFTC KNQPKPSLPT EWALCGERED 
    RLELLKLSTF ALIITPGDPR LVISSGCATR LFEALEVGAV PVVLGEQVQL PYQDMLQWNE 
    AALVVPKPRV TEVHFLLRSL SDSDLLAMRR QGRFLWETYF STADSIFNTV LAMIRTRIQI 
    PAAPIREEAA AEIPHRSGKA AGTDPNMADN GDLDLGPVET EPPYASPRYL RNFTLTVTDF 
    YRSWNCAPGP FHLFPHTPFD PVLPSEAKFL GSGTGFRPIG GGAGGSGKEF QAALGGNVPR 
    EQFTVVMLTY EREEVLMNSL ERLNGLPYLN KVVVVWNSPK LPSEDLLWPD IGVPIMVVRT 
    EKNSLNNRFL PWNEIETEAI LSIDDDAHLR HDEIMFGFRV WREARDRIVG FPGRYHAWDI 
    PHQSWLYNSN YSCELSMVLT GAAFFHKYYA YLYSYVMPQA IRDMVDEYIN CEDIAMNFLV 
    SHITRKPPIK VTSRWTFRCP GCPQALSHDD SHFHERHKCI NFFVKVYGYM PLLYTQFRVD 
    SVLFKTRLPH DKTKCFKFI

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.