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
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
Family IPR027670 Exostosin-1
Homologous_superfamily IPR029044 Nucleotide-diphospho-sugar transferases
Domain Details Per Protein
Protein Length Exostosin-1 Exostosin, GT47 domain Exostosin-like Glycosyl transferase 64 domain Nucleotide-diphospho-sugar transferases
UniProtKB:A3KMS6 730
UniProtKB:Q5IGR8 730
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