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

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]

References edit

^ ^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".

Further reading edit

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.

[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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