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 enable 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 be located in Golgi apparatus. Is expressed in several structures, including axis; brain; cloacal chamber; fin bud; and myotome. Human ortholog(s) of this gene implicated in congenital muscular dystrophy-dystroglycanopathy type A6 and muscular dystrophy-dystroglycanopathy type B6. 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
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
Homologous_superfamily IPR029044 Nucleotide-diphospho-sugar transferases
Domain Details Per Protein
Protein Length Glycosyl transferase, family 8 Nucleotide-diphospho-sugar transferases
UniProtKB:Q66PG2 757
UniProtKB:F1RE53 757
UniProtKB:B3DFM4 757
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations