Details for: EXTL3

Gene ID: 2137

Symbol: EXTL3

Ensembl ID: ENSG00000012232

Description: exostosin like glycosyltransferase 3

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: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 1.68
    Marker Score: 15766
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.67
    Marker Score: 14384
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.6
    Marker Score: 98166
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 1.39
    Marker Score: 2822
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 1.37
    Marker Score: 51973
  • Cell Name: neuron (CL0000540)
    Fold Change: 1.31
    Marker Score: 5344
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.31
    Marker Score: 13495
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 1.28
    Marker Score: 5307
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.27
    Marker Score: 19827
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 1.27
    Marker Score: 46709
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 1.26
    Marker Score: 18861
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 1.26
    Marker Score: 2963
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.26
    Marker Score: 11946
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.2
    Marker Score: 4644
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 1.14
    Marker Score: 8763
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 1.12
    Marker Score: 352
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 1.12
    Marker Score: 361
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 1.11
    Marker Score: 2430.5
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 1.11
    Marker Score: 21988
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 1.1
    Marker Score: 24506
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 1.06
    Marker Score: 1225
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.04
    Marker Score: 1606
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 1.04
    Marker Score: 622
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71779
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48004
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 1
    Marker Score: 583
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 0.99
    Marker Score: 4580
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30404
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.95
    Marker Score: 491
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2409
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.94
    Marker Score: 445
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 0.92
    Marker Score: 19529
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.91
    Marker Score: 452
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2727
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.89
    Marker Score: 5084
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5296
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.87
    Marker Score: 312
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.84
    Marker Score: 5054
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.78
    Marker Score: 1371
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.78
    Marker Score: 370
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.77
    Marker Score: 3216
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.76
    Marker Score: 1238
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.75
    Marker Score: 3142
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.74
    Marker Score: 381
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.73
    Marker Score: 293
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.73
    Marker Score: 557
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 0.71
    Marker Score: 2508
  • Cell Name: pyramidal neuron (CL0000598)
    Fold Change: 0.7
    Marker Score: 1173
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.68
    Marker Score: 618
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.67
    Marker Score: 171
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.67
    Marker Score: 195
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.66
    Marker Score: 751
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 0.66
    Marker Score: 2828
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.62
    Marker Score: 275
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 0.62
    Marker Score: 3960
  • Cell Name: renal interstitial pericyte (CL1001318)
    Fold Change: 0.61
    Marker Score: 586
  • Cell Name: cerebellar granule cell precursor (CL0002362)
    Fold Change: 0.61
    Marker Score: 344
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 0.61
    Marker Score: 1465
  • Cell Name: endocrine cell (CL0000163)
    Fold Change: 0.57
    Marker Score: 297
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.57
    Marker Score: 10179
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.55
    Marker Score: 143
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 0.55
    Marker Score: 173
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.55
    Marker Score: 435
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.54
    Marker Score: 468
  • Cell Name: lymphocyte (CL0000542)
    Fold Change: 0.54
    Marker Score: 272
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: 0.52
    Marker Score: 627
  • Cell Name: type A enteroendocrine cell (CL0002067)
    Fold Change: 0.51
    Marker Score: 206
  • Cell Name: smooth muscle cell of prostate (CL1000487)
    Fold Change: 0.51
    Marker Score: 130
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 0.51
    Marker Score: 2721
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.5
    Marker Score: 300
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.5
    Marker Score: 329
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: 0.49
    Marker Score: 393
  • Cell Name: cholangiocyte (CL1000488)
    Fold Change: 0.48
    Marker Score: 181
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 0.48
    Marker Score: 153
  • Cell Name: lung goblet cell (CL1000143)
    Fold Change: 0.48
    Marker Score: 139
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.48
    Marker Score: 168
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.48
    Marker Score: 499
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.47
    Marker Score: 572
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 0.47
    Marker Score: 468
  • Cell Name: mesothelial cell of epicardium (CL0011019)
    Fold Change: 0.47
    Marker Score: 151
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 0.47
    Marker Score: 309
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 0.47
    Marker Score: 899
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: 0.46
    Marker Score: 413
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.46
    Marker Score: 310
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 0.45
    Marker Score: 490
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.45
    Marker Score: 440
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 0.45
    Marker Score: 188
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: 0.45
    Marker Score: 304
  • Cell Name: subcutaneous fat cell (CL0002521)
    Fold Change: 0.45
    Marker Score: 163
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 0.44
    Marker Score: 127
  • Cell Name: fat cell (CL0000136)
    Fold Change: 0.44
    Marker Score: 246
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 0.43
    Marker Score: 117
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 0.43
    Marker Score: 527
  • Cell Name: podocyte (CL0000653)
    Fold Change: 0.42
    Marker Score: 157
  • Cell Name: neural progenitor cell (CL0011020)
    Fold Change: 0.42
    Marker Score: 1642
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: 0.42
    Marker Score: 159
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 0.42
    Marker Score: 472
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.42
    Marker Score: 287
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.42
    Marker Score: 955
  • Cell Name: cell of skeletal muscle (CL0000188)
    Fold Change: 0.41
    Marker Score: 313

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Other Information

**Key characteristics:** * EXTL3 is a transmembrane protein that is localized to the cell surface. * It is a glycosyltransferase, meaning it can transfer a sugar molecule from one molecule to another. * EXTL3 is a highly conserved protein, with similar sequences found in mammals, birds, and fish. **Pathways and functions:** * EXTL3 is involved in the regulation of inflammation. It is a key regulator of the inflammatory response to injury or infection. * It is activated by the cytokine interleukin-1 beta (IL-1β), which is released by activated macrophages and other immune cells. * EXTL3 binds to GP-containing microvesicles derived from damaged cells and helps to recruit chaperones, which are proteins that protect the GP from degradation. * It also negatively regulates the inflammatory response to wounding by inhibiting the activation of the transcription factor nuclear factor kappa B (NF-κB). * EXTL3 is also involved in cell growth and differentiation. It is expressed in proliferating cells and is essential for the survival and differentiation of neurons. **Clinical significance:** * Mutations in the EXTL3 gene have been linked to several neurological disorders, including autism, schizophrenia, and Alzheimer's disease. * EXTL3 is a potential therapeutic target for these disorders, as it could be used to inhibit inflammation and promote neuron survival.

Genular Protein ID: 4044572015

Symbol: EXTL3_HUMAN

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

UniProtKB Accession Codes:

O43909 D3DST8 O00225 Q53XT3

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CAZy 2 CCDS 1 CTD 1 ChEBI 18 ChiTaRS 1 DNASU 1 DisGeNET 1 EC 1 EMBL 12 EMDB 2 EPD 1 Ensembl 5 ExpressionAtlas 1 GO 18 GeneCards 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 3 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 9 PDBsum 4 PIR 1 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 1 RefSeq 2 Rhea 3 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 UniPathway 1 UniProtKB 2 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

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. For the full schema, download it here.