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

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 InterPro	757
UniProtKB:B3DFM4 InterPro	757
UniProtKB:F1RE53 InterPro	757

Transcripts

Genome Browsers

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	large1-201 (1) Ensembl	Havana	12617 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT

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