Gene

large1

ID

ZDB-GENE-061204-1

Name

LARGE xylosyl- and glucuronyltransferase 1

Symbol

large1 Nomenclature History

Previous Names

large (1)

Type

protein_coding_gene

Location

Chr: 4 Mapping Details/Browsers

Description

Predicted to have glucuronosyltransferase activity; manganese ion binding activity; and xylosyltransferase activity. Predicted to be involved in protein O-linked mannosylation; skeletal muscle organ development; and skeletal muscle tissue regeneration. Predicted to localize to Golgi apparatus. Human ortholog(s) of this gene implicated in congenital muscular dystrophy-dystroglycanopathy type A6 and muscular dystrophy-dystroglycanopathy type B6. Is expressed in several structures, including axis; brain; cloacal chamber; fin bud; and myotome. Orthologous to human LARGE1 (LARGE xylosyl- and glucuronyltransferase 1).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

4 figures from 2 publications

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: No data available
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With large1 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
congenital muscular dystrophy-dystroglycanopathy type A6	Alliance	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6	613154
muscular dystrophy-dystroglycanopathy type B6	Alliance	Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6	608840

Associated With large1 Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Family	IPR002495	Glycosyl transferase, family 8
Family	IPR051292	Alpha-1,3-xylosyltransferase/Beta-1,3-glucuronyltransferase
Homologous_superfamily	IPR029044	Nucleotide-diphospho-sugar transferases