Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   
Gene: LARGE1 (LARGE xylosyl- and glucuronyltransferase 1) Homo sapiens
Symbol: LARGE1
Name: LARGE xylosyl- and glucuronyltransferase 1
Description: Exhibits glucuronosyltransferase activity; manganese ion binding activity; and xylosyltransferase activity. Involved in protein O-linked mannosylation. Localizes to Golgi apparatus. Implicated in congenital muscular dystrophy-dystroglycanopathy type A6 and muscular dystrophy-dystroglycanopathy type B6.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: acetylglucosaminyltransferase-like 1A; acetylglucosaminyltransferase-like protein; glycosyltransferase-like protein LARGE1; KIAA0609; LARGE; like-acetylglucosaminyltransferase; like-glycosyltransferase; MDC1D; MDDGA6; MDDGB6
Mus musculus (house mouse) : Large1 (LARGE xylosyl- and glucuronyltransferase 1)  MGI  Alliance
Rattus norvegicus (Norway rat) : Large1 (LARGE xylosyl- and glucuronyltransferase 1)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Large1 (LARGE xylosyl- and glucuronyltransferase 1)
Pan paniscus (bonobo/pygmy chimpanzee) : LARGE1 (LARGE xylosyl- and glucuronyltransferase 1)
Canis lupus familiaris (dog) : LARGE1 (LARGE xylosyl- and glucuronyltransferase 1)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Large1 (LARGE xylosyl- and glucuronyltransferase 1)
Sus scrofa (pig) : LARGE1 (LARGE xylosyl- and glucuronyltransferase 1)
Chlorocebus sabaeus (African green monkey) : LARGE1 (LARGE xylosyl- and glucuronyltransferase 1)
Heterocephalus glaber (naked mole-rat) : Large1 (LARGE xylosyl- and glucuronyltransferase 1)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh38.p13 Ensembl2233,162,226 - 33,922,841 (-)EnsemblGRCh38hg38GRCh38
GRCh382233,162,237 - 33,922,824 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372233,668,509 - 34,316,464 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362231,999,063 - 32,646,410 (-)NCBINCBI36hg18NCBI36
Build 342231,993,616 - 32,640,964NCBI
Celera2217,471,158 - 18,118,297 (-)NCBI
Cytogenetic Map22q12.3NCBI
HuRef2216,626,665 - 17,273,268 (-)NCBIHuRef
CHM1_12233,628,484 - 34,276,127 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Phenotype Annotations
References - curated
References - uncurated


Comparative Map Data
Position Markers
miRNA Target Status


RNA-SEQ Expression


Nucleotide Sequences
Protein Sequences
Clinical Variants

Additional Information

External Database Links
Nomenclature History
More on LARGE1
Alliance Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 1318927
Created: 2005-01-12
Species: Homo sapiens
Last Modified: 2020-07-07
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.