EXTL1

From Wikipedia, the free encyclopedia

Exostoses (multiple)-like 1

Identifiers

EXTL1; EXTL; MGC70794

External IDs

OMIM: 601738 MGI: 1888742 HomoloGene: 3277

Gene ontology
Molecular Function:	• transferase activity, transferring glycosyl groups • glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity
Cellular Component:	• endoplasmic reticulum • membrane • integral to membrane
Biological Process:	• skeletal development

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_004455 (mRNA)
NP_004446 (protein)

NM_019578 (mRNA)
NP_062524 (protein)

Location

Chr 1: 26.22 - 26.24 Mb

Chr 4: 133.63 - 133.64 Mb

Pubmed search

[1]

[2]

Exostoses (multiple)-like 1, also known as EXTL1, is a human gene.^[1]

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.^[1]

[edit] References

^ ^a ^b Entrez Gene: EXTL1 exostoses (multiple)-like 1.

[edit] Further reading

Zak BM, Crawford BE, Esko JD (2003). "Hereditary multiple exostoses and heparan sulfate polymerization.". Biochim. Biophys. Acta 1573 (3): 346-55. PMID 12417417.
Wise CA, Clines GA, Massa H, et al. (1997). "Identification and localization of the gene for EXTL, a third member of the multiple exostoses gene family.". Genome Res. 7 (1): 10-6. PMID 9037597.
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. 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. PMID 10575224.
Kim BT, Kitagawa H, Tamura J, et al. (2001). "Human tumor suppressor EXT gene family members EXTL1 and EXTL3 encode alpha 1,4- N-acetylglucosaminyltransferases that likely are involved in heparan sulfate/ heparin biosynthesis.". Proc. Natl. Acad. Sci. U.S.A. 98 (13): 7176-81. doi:10.1073/pnas.131188498. 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. 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. 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. 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. doi:10.1038/nature04727. PMID 16710414.