EXTL1

EXTL1
Identifiers
Aliases	EXTL1, EXTL, exostosin-like glycosyltransferase 1, exostosin like glycosyltransferase 1
External IDs	OMIM: 601738; MGI: 1888742; HomoloGene: 3277; GeneCards: EXTL1; OMA:EXTL1 - orthologs
Gene location (Human)
Chr.	Chromosome 1 (human)
End	26,036,464 bp
Gene location (Mouse)
Chr.	Chromosome 4 (mouse)
End	134,111,161 bp
RNA expression pattern
	Top expressed in
	right frontal lobe; ; tibial nerve; ; prefrontal cortex; ; Brodmann area 9; ; cingulate gyrus; ; anterior cingulate cortex; ; amygdala; ; muscle of thigh; ; tibia; ; sural nerve;
	Top expressed in
	muscle of thigh; ; extraocular muscle; ; lumbar subsegment of spinal cord; ; zygote; ; soleus muscle; ; visual cortex; ; primary visual cortex; ; upper arm; ; superior frontal gyrus; ; triceps brachii muscle;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	transferase activity; glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity; glycosyltransferase activity;
Cellular component	integral component of membrane; endoplasmic reticulum; membrane; endoplasmic reticulum membrane;
Biological process	skeletal system development; protein glycosylation; IRE1-mediated unfolded protein response;
	Sources:Amigo / QuickGO
Orthologs
	2134
	56219
	ENSG00000158008
	ENSMUSG00000028838
	Q92935
	Q9JKV7
	NM_004455
	NM_019578; NM_001355493
	NP_004446
	NP_062524; NP_001342422
	Wikidata
View/Edit Human	View/Edit Mouse

Exostosin-like 1 is a protein that in humans is encoded by the EXTL1 gene.^[5]^[6]

This gene is a member of the multiple exostoses (EXT) family of glycosyltransferases, which function in the chain polymerization of heparan sulfate and heparin. The encoded protein harbors alpha 1,4- N-acetylglucosaminyltransferase activity, and is involved in chain elongation of heparan sulfate and possibly heparin.^[6]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000158008 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000028838 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Wise CA, Clines GA, Massa H, Trask BJ, Lovett M (May 1997). "Identification and localization of the gene for EXTL, a third member of the multiple exostoses gene family". Genome Res. 7 (1): 10–6. doi:10.1101/gr.7.1.10. PMID 9037597.
^ ^a ^b "Entrez Gene: EXTL1 exostoses (multiple)-like 1".

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000158008 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000028838 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid9037597-5] Wise CA, Clines GA, Massa H, Trask BJ, Lovett M (May 1997). "Identification and localization of the gene for EXTL, a third member of the multiple exostoses gene family". Genome Res. 7 (1): 10–6. doi:10.1101/gr.7.1.10. PMID 9037597.

[entrez-6] "Entrez Gene: EXTL1 exostoses (multiple)-like 1".

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