Sequence Detail

ID/Version

Q9Z1M7 Q6P7U2 Q497S9 Q80TW0 (UniProt | EBI)

Last sequence update: 1999-05-01
Last annotation update: 2024-07-24

Sequence description from provider

RecName: Full=Xylosyl- and glucuronyltransferase LARGE1 {ECO:0000305}; EC=2.4.-.- {ECO:0000250|UniProtKB:O95461};AltName: Full=Acetylglucosaminyltransferase-like 1A;AltName: Full=Glycosyltransferase-like protein;AltName: Full=LARGE xylosyl- and gl

Provider

SWISS-PROT

Sequence

Polypeptide 756 aa

Source

Organism mouse

See UniProt | EBI for source

Annotated genes and markers

Follow the symbol links to get more information on the GO terms, expression assays, orthologs, phenotypic alleles, and other information for the genes or markers below.

Type	Symbol	Name	GO Terms	Expression Assays	Orthologs	Phenotypic Alleles
Gene	Large1	LARGE xylosyl- and glucuronyltransferase 1	142	101	3	13

Sequence references in MGI

J:52967 Peyrard M, et al., 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. 1999 Jan 19;96(2):598-603
J:69796 Grewal PK, et al., Mutant glycosyltransferase and altered glycosylation of alpha-dystroglycan in the myodystrophy mouse. Nat Genet. 2001 Jun;28(2):151-4
J:83413 Okazaki N, et al., Prediction of the coding sequences of mouse homologues of KIAA gene: II. The complete nucleotide sequences of 400 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries. DNA Res. 2003 Feb 28;10(1):35-48
J:91681 Barresi R, et al., LARGE can functionally bypass alpha-dystroglycan glycosylation defects in distinct congenital muscular dystrophies. Nat Med. 2004 Jul;10(7):696-703
J:175194 Kanagawa M, et al., Molecular recognition by LARGE is essential for expression of functional dystroglycan. Cell. 2004 Jun 25;117(7):953-64
J:206057 Goddeeris MM, et al., LARGE glycans on dystroglycan function as a tunable matrix scaffold to prevent dystrophy. Nature. 2013 Nov 7;503(7474):136-40
J:215859 Ashikov A, et al., LARGE2 generates the same xylose- and glucuronic acid-containing glycan structures as LARGE. Glycobiology. 2013 Mar;23(3):303-9
J:215860 Inamori K, et al., Xylosyl- and glucuronyltransferase functions of LARGE in alpha-dystroglycan modification are conserved in LARGE2. Glycobiology. 2013 Mar;23(3):295-302
J:217071 Inamori K, et al., Endogenous glucuronyltransferase activity of LARGE or LARGE2 required for functional modification of alpha-dystroglycan in cells and tissues. J Biol Chem. 2014 Oct 10;289(41):28138-48
J:302509 Walimbe AS, et al., POMK regulates dystroglycan function via LARGE1-mediated elongation of matriglycan. Elife. 2020 Sep 25;9:e61388