Gene

ext1a

ID

ZDB-GENE-050211-3

Name

exostosin glycosyltransferase 1a

Symbol

ext1a Nomenclature History

Previous Names

fd07d06
wu:fd07d06

Type

protein_coding_gene

Location

Chr: 16 Mapping Details/Browsers

Description

Predicted to have N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity and glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity. Predicted to be involved in heparan sulfate proteoglycan biosynthetic process. Predicted to localize to Golgi apparatus and integral component of endoplasmic reticulum membrane. Human ortholog(s) of this gene implicated in chondrosarcoma; hereditary multiple exostoses; and trichorhinophalangeal syndrome type II. Is expressed in several structures, including brain; forebrain neural keel; neural plate; optic vesicle; and tail bud. Orthologous to human EXT1 (exostosin glycosyltransferase 1).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

4 figures from Siekmann et al., 2005

Cross-Species Comparison

High Throughput Data

GEO (1)

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 ext1a Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
chondrosarcoma	Alliance	Chondrosarcoma	215300
hereditary multiple exostoses	Alliance	Exostoses, multiple, type 1	133700

Associated With ext1a 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