EXTL3
entrez
2137
canonical
uniprot
O43909
canonical
ensembl
ENSG00000012232
resolver
ensp
ENSP00000220562
resolver
ensp
ENSP00000512467
resolver
ensp
ENSP00000512468
resolver
ensp
ENSP00000512473
resolver
ensp
ENSP00000512474
resolver
ensp
ENSP00000539930
resolver
ensp
ENSP00000539931
resolver
ensp
ENSP00000596415
resolver
ensp
ENSP00000596417
resolver
ensp
ENSP00000596418
resolver
ensp
ENSP00000596419
resolver
ensp
ENSP00000624035
resolver
ensp
ENSP00000624036
resolver
ensp
ENSP00000624037
resolver
enst
ENST00000220562
resolver
enst
ENST00000696177
resolver
enst
ENST00000696178
resolver
enst
ENST00000696184
resolver
enst
ENST00000696186
resolver
enst
ENST00000869871
resolver
enst
ENST00000869872
resolver
enst
ENST00000926356
resolver
enst
ENST00000926358
resolver
enst
ENST00000926359
resolver
enst
ENST00000926360
resolver
enst
ENST00000953976
resolver
enst
ENST00000953977
resolver
enst
ENST00000953978
resolver
genesymbol
EXTL3
resolver
genesymbol_syn
EXTL1L
resolver
genesymbol_syn
EXTR1
resolver
genesymbol_syn
KIAA0519
resolver
hgnc
HGNC:3518
resolver
uniprot
A0A384NPY9
resolver
uniprot
D3DST8
resolver
uniprot
O00225
resolver
uniprot
Q53XT3
resolver
uniprot_entry
A0A384NPY9_HUMAN
resolver
uniprot_entry
EXTL3_HUMAN
resolver
uniprot_sec
D3DST8
resolver
uniprot_sec
O00225
resolver
uniprot_sec
Q53XT3
resolver
amino_acid_sequence
MTGYTMLRNGGAGNGGQTCMLRWSNRIRLTWLSFTLFVILVFFPLIAHYYLTTLDEADEAGKRIFGPRVGNELCEVKHVLDLCRIRESVSEELLQLEAKRQELNSEIAKLNLKIEACKKSIENAKQDLLQLKNVISQTEHSYKELMAQNQPKLSLPIRLLPEKDDAGLPPPKATRGCRLHNCFDYSRCPLTSGFPVYVYDSDQFVFGSYLDPLVKQAFQATARANVYVTENADIACLYVILVGEMQEPVVLRPAELEKQLYSLPHWRTDGHNHVIINLSRKSDTQNLLYNVSTGRAMVAQSTFYTVQYRPGFDLVVSPLVHAMSEPNFMEIPPQVPVKRKYLFTFQGEKIESLRSSLQEARSFEEEMEGDPPADYDDRIIATLKAVQDSKLDQVLVEFTCKNQPKPSLPTEWALCGEREDRLELLKLSTFALIITPGDPRLVISSGCATRLFEALEVGAVPVVLGEQVQLPYQDMLQWNEAALVVPKPRVTEVHFLLRSLSDSDLLAMRRQGRFLWETYFSTADSIFNTVLAMIRTRIQIPAAPIREEAAAEIPHRSGKAAGTDPNMADNGDLDLGPVETEPPYASPRYLRNFTLTVTDFYRSWNCAPGPFHLFPHTPFDPVLPSEAKFLGSGTGFRPIGGGAGGSGKEFQAALGGNVPREQFTVVMLTYEREEVLMNSLERLNGLPYLNKVVVVWNSPKLPSEDLLWPDIGVPIMVVRTEKNSLNNRFLPWNEIETEAILSIDDDAHLRHDEIMFGFRVWREARDRIVGFPGRYHAWDIPHQSWLYNSNYSCELSMVLTGAAFFHKYYAYLYSYVMPQAIRDMVDEYINCEDIAMNFLVSHITRKPPIKVTSRWTFRCPGCPQALSHDDSHFHERHKCINFFVKVYGYMPLLYTQFRVDSVLFKTRLPHDKTKCFKFI
uniprot
proteins
disease_involvement
DISEASE: Immunoskeletal dysplasia with neurodevelopmental abnormalities (ISDNA) [MIM:617425]: An autosomal recessive disorder characterized by variable skeletal abnormalities and neurodevelopmental defects. Neurologic manifestations include intellectual disability and motor delay. Some patients manifest hypotonia and seizures. Skeletal features include disproportionate short stature, cervical malformations, epiphyseal and metaphyseal dysplasia, and rarely premature craniosynostosis with progressive microcephaly. Severe combined immunodeficiency with a complete absence of T cells is observed in some patients. {ECO:0000269|PubMed:28132690, ECO:0000269|PubMed:28148688}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.4.1.223
uniprot
proteins
function
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). {ECO:0000250|UniProtKB:Q9WVL6, ECO:0000269|PubMed:11390981, ECO:0000269|PubMed:22727489, ECO:0000269|PubMed:28132690, ECO:0000269|PubMed:28148688, ECO:0000269|PubMed:35676258}.; 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). {ECO:0000250|UniProtKB:Q9WVL6, ECO:0000269|PubMed:19158046, ECO:0000269|PubMed:22727489, ECO:0000269|PubMed:27830702, ECO:0000269|PubMed:34099862}.
uniprot
proteins
mass_dalton
104749
uniprot
proteins
pathway_participation
PATHWAY: Glycan metabolism; heparan sulfate biosynthesis. {ECO:0000269|PubMed:28132690, ECO:0000269|PubMed:28148688}.
uniprot
proteins
protein_family
Glycosyltransferase 47 family
uniprot
proteins
pubmed
10639137
uniprot
proteins
pubmed
11390981
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19158046
uniprot
proteins
pubmed
22727489
uniprot
proteins
pubmed
27830702
uniprot
proteins
pubmed
28132690
uniprot
proteins
pubmed
28148688
uniprot
proteins
pubmed
28397838
uniprot
proteins
pubmed
29346724
uniprot
proteins
pubmed
34099862
uniprot
proteins
pubmed
35676258
uniprot
proteins
pubmed
9473480
uniprot
proteins
pubmed
9479495
uniprot
proteins
pubmed
9628581
uniprot
proteins
sequence_length
919
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:10639137}; Single-pass type II membrane protein {ECO:0000269|PubMed:10639137}. Golgi apparatus {ECO:0000269|PubMed:28132690}. Cell membrane {ECO:0000269|PubMed:19158046}. Nucleus {ECO:0000269|PubMed:19158046}. Note=Interaction with REG3A induces its translocation to the nucleus. {ECO:0000269|PubMed:19158046}.
uniprot
proteins
transmembrane_region
TRANSMEM 31..51; /note="Helical; Signal-anchor for type II membrane protein"; /evidence="ECO:0000255
uniprot
proteins