LARGE

From Wikipedia, the free encyclopedia

Like-glycosyltransferase

Identifiers

LARGE; KIAA0609; MDC1D

External IDs

OMIM: 603590 MGI: 1342270 HomoloGene: 7810

Gene ontology
Molecular Function:	• acetylglucosaminyltransferase activity
Cellular Component:	• membrane • integral to membrane • integral to Golgi membrane
Biological Process:	• N-acetylglucosamine metabolic process • protein amino acid glycosylation • glycosphingolipid biosynthetic process • synaptic transmission • sensory perception of sound • carbohydrate biosynthetic process • muscle maintenance

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_004737 (mRNA)
NP_004728 (protein)

XM_489843 (mRNA)
XP_489843 (protein)

Location

Chr 22: 32 - 32.65 Mb

Chr 8: 75.71 - 76.25 Mb

Pubmed search

[1]

[2]

Like-glycosyltransferase, also known as LARGE, is a human gene.^[1]

This gene, which is one of the largest in the human genome, encodes a member of the N-acetylglucosaminyltransferase gene family. The function of this gene has not yet been established; however, it may involve a role in tumor-specific genomic rearrangements. Mutations in this gene may be involved in the development and progression of meningioma through modification of ganglioside composition and other glycosylated molecules in tumor cells. Alternative splicing of this gene results in two transcript variants that encode the same protein.^[1]

[edit] References

^ ^a ^b Entrez Gene: LARGE like-glycosyltransferase.

[edit] Further reading

Nagase T, Ishikawa K, Miyajima N, et al. (1998). "Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.". DNA Res. 5 (1): 31-9. PMID 9628581.
Peyrard M, Seroussi E, Sandberg-Nordqvist AC, et al. (1999). "The human LARGE gene from 22q12.3-q13.1 is a new, distinct member of the glycosyltransferase gene family.". Proc. Natl. Acad. Sci. U.S.A. 96 (2): 598-603. PMID 9892679.
Dunham I, Shimizu N, Roe BA, et al. (1999). "The DNA sequence of human chromosome 22.". Nature 402 (6761): 489-95. doi:10.1038/990031. PMID 10591208.
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.
Longman C, Brockington M, Torelli S, et al. (2004). "Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan.". Hum. Mol. Genet. 12 (21): 2853-61. doi:10.1093/hmg/ddg307. PMID 12966029.
Kanagawa M, Saito F, Kunz S, et al. (2004). "Molecular recognition by LARGE is essential for expression of functional dystroglycan.". Cell 117 (7): 953-64. doi:10.1016/j.cell.2004.06.003. PMID 15210115.
Collins JE, Wright CL, Edwards CA, et al. (2005). "A genome annotation-driven approach to cloning the human ORFeome.". Genome Biol. 5 (10): R84. doi:10.1186/gb-2004-5-10-r84. PMID 15461802.
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.
Brockington M, Torelli S, Prandini P, et al. (2005). "Localization and functional analysis of the LARGE family of glycosyltransferases: significance for muscular dystrophy.". Hum. Mol. Genet. 14 (5): 657-65. doi:10.1093/hmg/ddi062. PMID 15661757.
Fujimura K, Sawaki H, Sakai T, et al. (2005). "LARGE2 facilitates the maturation of alpha-dystroglycan more effectively than LARGE.". Biochem. Biophys. Res. Commun. 329 (3): 1162-71. doi:10.1016/j.bbrc.2005.02.082. PMID 15752776.
Grewal PK, McLaughlan JM, Moore CJ, et al. (2006). "Characterization of the LARGE family of putative glycosyltransferases associated with dystroglycanopathies.". Glycobiology 15 (10): 912-23. doi:10.1093/glycob/cwi094. PMID 15958417.