EXTL1

EXTL1
Identifiers
Aliases	EXTL1 , EXTL, exostosin-like glycosyltransferase 1, exostosin like glycosyltransferase 1
External IDs	OMIM: 601738 MGI: 1888742 HomoloGene: 3277 GeneCards: EXTL1
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
	tibial nerve; ; prefrontal cortex; ; Brodmann area 9; ; cingulate gyrus; ; amygdala; ; tibia; ; sural nerve; ; Brodmann area 10; ; hippocampus proper; ; middle temporal gyrus;
	Top expressed in
	extraocular muscle; ; soleus muscle; ; visual cortex; ; upper arm; ; superior frontal gyrus; ; triceps brachii muscle; ; temporal muscle; ; lip; ; cardiac muscles; ; masseter 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

Last updated October 12, 2022

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]

Related Research Articles

Exostosin-1 is a protein that in humans is encoded by the EXT1 gene.

Exostosin glycosyltransferase-2 is a protein that in humans is encoded by the EXT2 gene.

N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase is an enzyme that in humans is encoded by the GCNT2 gene.

Beta-1,4-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase is an enzyme that in humans is encoded by the MGAT3 gene.

Heat shock protein 75 kDa, mitochondrial is a protein that in humans is encoded by the TRAP1 gene.

UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 is an enzyme that in humans is encoded by the B3GNT3 gene.

Bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1 is an enzyme. In humans, it is encoded by the NDST1 gene.

Exostosin-like 3 is a protein that in humans is encoded by the EXTL3 gene.

Heparan sulfate glucosamine 3-O-sulfotransferase 3A1 is an enzyme that in humans is encoded by the HS3ST3A1 gene.

Heparan-α-glucosaminide N-acetyltransferase is an enzyme that in humans is encoded by the HGSNAT gene.

Bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 2 is an enzyme that in humans is encoded by the NDST2 gene.

Heparan sulfate 2-O-sulfotransferase 1 is an enzyme that in humans is encoded by the HS2ST1 gene.

Heparan sulfate glucosamine 3-O-sulfotransferase 3B1 is an enzyme that in humans is encoded by the HS3ST3B1 gene. Heparan sulfate biosynthetic enzymes are key components in generating myriad distinct heparan sulfate fine structures that carry out multiple biologic activities. The enzyme encoded by this gene is a member of the heparan sulfate biosynthetic enzyme family. It is a type II integral membrane protein and possesses heparan sulfate glucosaminyl 3-O-sulfotransferase activity ( HS3ST3A1). The Sulfotransferase domain of this enzyme is highly similar to the same domain of heparan sulfate D-glucosaminyl 3-O-sulfotransferase 3A1 and these two enzymes sulfate an identical disaccharide. This gene is widely expressed, with the most abundant expression in liver and placenta.

Exostosin-like 2 is a protein that in humans is encoded by the EXTL2 gene. EXTL2 Glycosyltransferase is required for the biosynthesis of heparan-sulfate and responsible for the alternating addition of beta-1-4-linked glucuronic acid (GlcA) and alpha-1-4-linked N-acetylglucosamine (GlcNAc) units to nascent heparan sulfate chains.

D-glucuronyl C5-epimerase is an enzyme that in humans is encoded by the GLCE gene.

Bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 3 is an enzyme that in humans is encoded by the NDST3 gene. It catalyses the reaction:

3'-phosphoadenylyl sulfate + α-D-glucosaminyl-[heparan sulfate]_(n) = adenosine 3',5'-bisphosphate + 2 H⁺ + N-sulfo-α-D-glucosaminyl-[heparan sulfate]_(n)

Heparan sulfate glucosamine 3-O-sulfotransferase 2 is an enzyme that in humans is encoded by the HS3ST2 gene.

Glypican-6 is a protein that in humans is encoded by the GPC6 gene.

Glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase is an enzyme with systematic name UDP-N-acetyl-D-glucosamine:beta-D-glucuronosyl-(1->3)-beta-D-galactosyl-(1->3)-beta-D-galactosyl-(1->4)-beta-D-xylosyl-proteoglycan 4IV-alpha-N-acetyl-D-glucosaminyltransferase. This enzyme catalyses the following chemical reaction

Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase is an enzyme with systematic name UDP-N-acetyl-D-glucosamine:beta-D-glucuronosyl-(1->4)-N-acetyl-alpha-D-glucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase. This enzyme catalyses the following chemical reaction

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000158008 - Ensembl, May 2017
1 2 3 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.
1 2 "Entrez Gene: EXTL1 exostoses (multiple)-like 1".

Zak BM, Crawford BE, Esko JD (2003). "Hereditary multiple exostoses and heparan sulfate polymerization". Biochim. Biophys. Acta. 1573 (3): 346–55. doi:10.1016/S0304-4165(02)00402-6. PMID 12417417.
Xu L, Xia J, Jiang H, et al. (1999). "Mutation analysis of hereditary multiple exostoses in the Chinese". Hum. Genet. 105 (1–2): 45–50. doi:10.1007/s004390051062. PMID 10480354.
Wuyts W, Spieker N, Van Roy N, et al. (2000). "Refined physical mapping and genomic structure of the EXTL1 gene". Cytogenet. Cell Genet. 86 (3–4): 267–70. doi:10.1159/000015317. PMID 10575224. S2CID 43018785.
Kim BT, Kitagawa H, Tamura J, et al. (2001). "Human tumor suppressor EXT gene family members EXTL1 and EXTL3 encode α1,4- N-acetylglucosaminyltransferases that likely are involved in heparan sulfate/ heparin biosynthesis". Proc. Natl. Acad. Sci. U.S.A. 98 (13): 7176–81. Bibcode:2001PNAS...98.7176K. doi: 10.1073/pnas.131188498 . PMC 34642 . PMID 11390981.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC 139241 . PMID 12477932.
Mathysen D, Van Roy N, Van Hul W, et al. (2004). "Molecular analysis of the putative tumour-suppressor gene EXTL1 in neuroblastoma patients and cell lines". Eur. J. Cancer. 40 (8): 1255–61. doi:10.1016/j.ejca.2004.01.013. PMID 15110891.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928 . PMID 15489334.
Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129 . PMID 16344560.
Gregory SG, Barlow KF, McLay KE, et al. (2006). "The DNA sequence and biological annotation of human chromosome 1". Nature. 441 (7091): 315–21. Bibcode:2006Natur.441..315G. doi: 10.1038/nature04727 . PMID 16710414.

This article on a gene on human chromosome 1 is a stub. You can help Wikipedia by expanding it.

This page is based on this Wikipedia article
Text is available under the CC BY-SA 4.0 license; additional terms may apply.
Images, videos and audio are available under their respective licenses.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000158008 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 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] 1 2 "Entrez Gene: EXTL1 exostoses (multiple)-like 1".

[1]

[2]

[3]

[4]

[5]

[6]

EXTL1

Related Research Articles

References

Further reading