Gene

gnptab

ID
ZDB-GENE-030131-4714
Name
N-acetylglucosamine-1-phosphate transferase subunits alpha and beta
Symbol
gnptab Nomenclature History
Previous Names
  • si:ch211-234f20.3
  • wu:fd55d09
  • zgc:122985
  • zgc:158502
Type
protein_coding_gene
Location
Chr: 4 Mapping Details/Browsers
Description
Enables UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity. Involved in N-glycan processing to lysosome. Acts upstream of or within bone development; chondrocyte development; and embryonic viscerocranium morphogenesis. Predicted to be located in Golgi membrane. Used to study mucolipidosis II alpha/beta. Human ortholog(s) of this gene implicated in mucolipidosis II alpha/beta and mucolipidosis III alpha/beta. Orthologous to human GNPTAB (N-acetylglucosamine-1-phosphate transferase subunits alpha and beta).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
No data available
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
21 figures from 7 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With gnptab Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
mucolipidosis II alpha/beta Alliance Mucolipidosis II alpha/beta 252500
mucolipidosis III alpha/beta Alliance Mucolipidosis III alpha/beta 252600
Associated With gnptab Via Experimental Models
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Binding_site IPR018247 EF-Hand 1, calcium-binding site
Domain IPR000800 Notch domain
Domain IPR002048 EF-hand domain
Domain IPR010506 DMAP1-binding domain
Domain IPR021520 Stealth protein CR2, conserved region 2
Domain IPR031356 Stealth protein CR4, conserved region 4
Domain IPR031357 Stealth protein CR3, conserved region 3
Domain IPR031358 Stealth protein CR1, conserved region 1
Domain IPR041536 N-acetylglucosamine-1-phosphotransferase subunit alpha/beta, regulatory domain
Homologous_superfamily IPR035993 Notch-like domain superfamily
Domain Details Per Protein
Protein Length DMAP1-binding domain EF-Hand 1, calcium-binding site EF-hand domain N-acetylglucosamine-1-phosphotransferase subunit alpha/beta, regulatory domain Notch domain Notch-like domain superfamily Stealth protein CR1, conserved region 1 Stealth protein CR2, conserved region 2 Stealth protein CR3, conserved region 3 Stealth protein CR4, conserved region 4
UniProtKB:G1K2J8 1189
UniProtKB:F1QEV6 327
UniProtKB:Q32PR2 139
UniProtKB:A2RUZ4 327
UniProtKB:Q5RGJ8 1219
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