EXTL1

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

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)[1] Band 1p36.11 Start 26,019,884 bp[1] End 26,036,464 bp[1]
Gene location (Mouse) Chr. Chromosome 4 (mouse)[2] Band 4 D3|4 66.63 cM Start 134,356,372 bp[2] End 134,383,850 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • transferase activity • glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity • transferase activity, transferring glycosyl groups 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
Species	Human	Mouse
Entrez	2134	56219
Ensembl	ENSG00000158008	ENSMUSG00000028838
UniProt	Q92935	Q9JKV7
RefSeq (mRNA)	NM_004455	NM_019578 NM_001355493
RefSeq (protein)	NP_004446	NP_062524 NP_001342422
Location (UCSC)	Chr 1: 26.02 – 26.04 Mb	Chr 4: 134.36 – 134.38 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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

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

Further reading

• 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. 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.