UniProt:O43909 EXTL3

chain
  • chain:1-919
checksum 200ADD4DAB4A39FD
comment
  • FUNCTION Glycosyltransferase which regulates the biosynthesis of heparan sulfate (HS) (PubMed:28132690, PubMed:28148688). Initiates HS synthesis by transferring the first N-acetyl-alpha-D-glucosamine (alpha-GlcNAc) residue (GlcNAcT-I activity) to the tetrasaccharide linker (GlcA-Gal-Gal-Xyl-)Ser core linker (PubMed:11390981, PubMed:35676258). May also transfer alpha-GlcNAc residues during HS elongation (GlcNAcT-II activity) (PubMed:11390981, PubMed:35676258). Lacks glucuronyl transferase II (GlcAT-II) activity (PubMed:11390981, PubMed:35676258). Important for both skeletal development and hematopoiesis, through the formation of HS proteoglycans (HSPGs) (PubMed:11390981, PubMed:22727489, PubMed:28132690, PubMed:28148688, PubMed:35676258). Through the synthesis of HS, regulates postnatal pancreatic islet maturation and insulin secretion (By similarity).FUNCTION Receptor for REG3A, REG3B and REG3G, induces the activation of downstream signaling pathways such as PI3K-AKT or RAS-RAF-MEK-ERK signaling pathway (PubMed:22727489, PubMed:27830702, PubMed:34099862). Required for the function of REG3A in regulating keratinocyte proliferation and differentiation (PubMed:22727489). Required for the inhibition of skin inflammation mediated by REG3A through the activation of PI3K-AKT-STAT3 pathway (PubMed:27830702). Required for the function of REG3A and REG3G in glucose tolerance in pancreas (PubMed:19158046). Expressed in microglia, is activated by nociceptor-derived REG3G in response to endotoxins, leading to the inhibition of kynurenine pathway to prevent endotoxic death (By similarity).CATALYTIC ACTIVITY 3-O-(beta-D-GlcA-(1->3)-beta-D-Gal-(1->3)-beta-D-Gal-(1->4)-beta-D-Xyl)-L-seryl-[protein] + UDP-N-acetyl-alpha-D-glucosamine = 3-O-(alpha-D-GlcNAc-(1->4)-beta-D-GlcA-(1->3)-beta-D-Gal-(1->3)-beta-D-Gal-(1->4)-beta-D-Xyl)-L-seryl-[protein] + UDP + H(+)COFACTOR Glycan metabolism; heparan sulfate biosynthesis.SUBUNIT Homodimer; disulfide-linked (PubMed:29346724, PubMed:35676258). Interacts with REG3A.INTERACTION Interaction with REG3A induces its translocation to the nucleus.TISSUE SPECIFICITY Ubiquitous. Expressed in keratinocytes. Expressed in pancreas (PubMed:34099862).DOMAIN The N-terminal glycosyltransferase domain (GT47) does not bind UDP and is therefore unlikely to possess glycosyltransferase activity.DISEASE The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the glycosyltransferase 47 family.CAUTION It is uncertain whether Met-1, Met-6 or Met-20 is the initiator.SEQUENCE CAUTION Extended N-terminus.ONLINE INFORMATION Exostosin-like 3
crossReference
databaseName UniProt
dbId 54540
description
  • recommendedName: fullName evidence="17"Exostosin-like 3 ecNumber evidence="5 14 21 22"2.4.1.223 alternativeName: fullName evidence="16"EXT-related protein 1 alternativeName: Glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase alternativeName: fullName evidence="19"Hereditary multiple exostoses gene isolog alternativeName: fullName evidence="18"Multiple exostosis-like protein 3 alternativeName: fullName evidence="17"Putative tumor suppressor protein EXTL3
displayName UniProt:O43909 EXTL3
geneName
  • EXTL3
  • EXTL1L
  • EXTR1
  • KIAA0519
identifier O43909
isSequenceChanged false
keyword
  • 3D-structure
  • Cell membrane
  • Disease variant
  • Disulfide bond
  • Dwarfism
  • Endoplasmic reticulum
  • Glycoprotein
  • Glycosyltransferase
  • Golgi apparatus
  • Intellectual disability
  • Manganese
  • Membrane
  • Metal-binding
  • Nucleus
  • Phosphoprotein
  • Proteomics identification
  • Receptor
  • Reference proteome
  • Signal-anchor
  • Transferase
  • Transmembrane
  • Transmembrane helix
modified [InstanceEdit:9939033] Weiser, Joel, 2025-02-21
moleculeType Protein
name
  • EXTL3
otherIdentifier
  • 11717222_a_at
  • 11717223_a_at
  • 11717224_s_at
  • 209202_PM_s_at
  • 209202_s_at
  • 211051_PM_s_at
  • 211051_s_at
  • 2137
  • 2320167
  • 3091799
  • 3091801
  • 3091803
  • 3091804
  • 3091805
  • 3091808
  • 3091809
  • 3091810
  • 3091811
  • 3091816
  • 3091818
  • 3091819
  • 3091820
  • 3091822
  • 3091823
  • 3091824
  • 3091826
  • 3091828
  • 3091830
  • 3091831
  • 38809_s_at
  • 8145624
  • A_14_P112811
  • A_14_P122228
  • A_23_P384405
  • A_32_P92163
  • A_33_P3291294
  • GE53252
  • GO:0000287
  • GO:0001888
  • GO:0005515
  • GO:0005634
  • GO:0005783
  • GO:0005789
  • GO:0005794
  • GO:0005886
  • GO:0006486
  • GO:0006790
  • GO:0006954
  • GO:0008375
  • GO:0010838
  • GO:0015012
  • GO:0016020
  • GO:0016500
  • GO:0016740
  • GO:0016757
  • GO:0030307
  • GO:0043491
  • GO:0045617
  • GO:0046872
  • GO:0050728
  • GO:0051897
  • GO:0090594
  • GO:0106015
  • GO:1900016
  • GO:1900017
  • GO:1901135
  • GO:2000972
  • HMNXSV003040785
  • ILMN_1778226
  • PH_hs_0000950
  • TC08000222.hg
  • U96629_rna2_at
  • g13623512_3p_s_at
  • g2897904_3p_a_at
physicalEntity
referenceDatabase [ReferenceDatabase:2] UniProt
referenceGene
referenceTranscript
schemaClass ReferenceGeneProduct
secondaryIdentifier
  • EXTL3_HUMAN
  • D3DST8
  • O00225
  • Q53XT3
sequenceLength 919
species [Species:48887] Homo sapiens
stId uniprot:O43909
url http://purl.uniprot.org/uniprot/O43909
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