Gene

extl3

ID

ZDB-GENE-041124-2

Name

exostosin-like glycosyltransferase 3

Symbol

extl3 Nomenclature History

Previous Names

box
boxer
im:7141548

Type

protein_coding_gene

Location

Chr: 20 Mapping Details/Browsers

Description

Predicted to enable glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity. Acts upstream of or within several processes, including axon guidance; embryonic pectoral fin morphogenesis; and proteoglycan biosynthetic process. Predicted to be located in endoplasmic reticulum membrane. Predicted to be active in Golgi apparatus. Is expressed in nervous system and pectoral fin musculature. Orthologous to human EXTL3 (exostosin like glycosyltransferase 3).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

2 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

IMAGE:7141548 (1 image)

Wild Type Expression Summary

Phenotype

All Phenotype Data: 34 figures from 13 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With extl3 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
		Immunoskeletal dysplasia with neurodevelopmental abnormalities	617425

Associated With extl3 Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR015338	Glycosyl transferase 64 domain
Domain	IPR040911	Exostosin, GT47 domain
Family	IPR004263	Exostosin-like
Homologous_superfamily	IPR029044	Nucleotide-diphospho-sugar transferases