LARGE1
Identifiers
AliasesLARGE1, MDC1D, MDDGA6, MDDGB6, LARGE, like-glycosyltransferase, LARGE xylosyl- and glucuronyltransferase 1
External IDsOMIM: 603590 MGI: 1342270 HomoloGene: 7810 GeneCards: LARGE1
Orthologs
SpeciesHumanMouse
Entrez

9215

16795

Ensembl

ENSG00000133424

ENSMUSG00000004383

UniProt

O95461

Q9Z1M7

RefSeq (mRNA)

NM_004737
NM_133642
NM_001362949
NM_001362951
NM_001362953

NM_010687
NM_001317391

RefSeq (protein)

NP_001304320
NP_034817

Location (UCSC)Chr 22: 33.16 – 33.92 MbChr 8: 73.54 – 74.08 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Glycosyltransferase-like protein LARGE1 is an enzyme that in humans is encoded by the LARGE gene.[5][6][7][8]

Function

This gene, which is one of the largest in the human genome, encodes a member of the N-acetylglucosaminyltransferase gene family. The exact function of LARGE, a golgi protein, remains uncertain.[7] It encodes a glycosyltransferase which participates in glycosylation of alpha-dystroglycan, and may carry out the synthesis of glycoprotein and glycosphingolipid sugar chains. It may also be involved in the addition of a repeated disaccharide unit. Mutations in this gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan. Alternative splicing of this gene results in two transcript variants that encode the same protein.[7][8]

LARGE may also play 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.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000133424 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000004383 - 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. ↑ Peyrard M, Seroussi E, Sandberg-Nordqvist AC, Xie YG, Han FY, Fransson I, Collins J, Dunham I, Kost-Alimova M, Imreh S, Dumanski JP (Mar 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. Bibcode:1999PNAS...96..598P. doi:10.1073/pnas.96.2.598. PMC 15182. PMID 9892679.
  6. ↑ Dunham I, Shimizu N, Roe BA, Chissoe S, Hunt AR, Collins JE, Bruskiewich R, Beare DM, Clamp M, Smink LJ, Ainscough R, Almeida JP, Babbage A, Bagguley C, Bailey J, Barlow K, Bates KN, Beasley O, Bird CP, Blakey S, Bridgeman AM, Buck D, Burgess J, Burrill WD, O'Brien KP, et al. (Dec 1999). "The DNA sequence of human chromosome 22". Nature. 402 (6761): 489–95. Bibcode:1999Natur.402..489D. doi:10.1038/990031. PMID 10591208.
  7. 1 2 3 Longman C, Brockington M, Torelli S, Jimenez-Mallebrera C, Kennedy C, Khalil N, Feng L, Saran RK, Voit T, Merlini L, Sewry CA, Brown SC, Muntoni F (Oct 2003). "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.
  8. 1 2 "Entrez Gene: LARGE like-glycosyltransferase".

Further reading


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