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

Exhibits UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity. Involved in N-glycan processing to lysosome and skeletal system development. Predicted to localize to Golgi membrane. Used to study inclusion-cell disease. Human ortholog(s) of this gene implicated in inclusion-cell disease and pseudo-Hurler polydystrophy. Orthologous to human GNPTAB (N-acetylglucosamine-1-phosphate transferase subunits alpha and beta).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

1 figure from Lu et al., 2020

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: 26 figures from 9 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

Human Disease	Fish	Conditions	Citations
congenital heart disease	gnptab^ga2/ga2	standard conditions	Lu et al., 2020
congenital heart disease	gnptab^ga3/ga3	standard conditions	Lu et al., 2020
mucolipidosis II alpha/beta	WT + MO1-gnptab	control	Flanagan-Steet et al., 2018
mucolipidosis II alpha/beta	WT + MO1-gnptab	standard conditions	(2)
mucolipidosis II alpha/beta	WT + MO2-gnptab	standard conditions	Flanagan-Steet et al., 2009
mucolipidosis II alpha/beta	y1Tg + MO2-gnptab	standard conditions	Petrey et al., 2012
mucolipidosis	WT + CRISPR1-gnptab + CRISPR2-gnptab + CRISPR3-gnptab + CRISPR4-gnptab	standard conditions	Zhang et al., 2022

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
Family	IPR047141	Stealth family
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 family	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:Q5RGJ8 InterPro PDB	1219
UniProtKB:A0A8M2BBZ0 InterPro	1222

Transcripts

Genome Browsers

Type	Name	Annotation Method	Length (nt)	Analysis
aberrant processed transcript	gnptab-202 (1) Ensembl	Ensembl	2,496 nt	Select Tool
mRNA	gnptab-201 (1) Ensembl	Ensembl	4,202 nt	Select Tool ZFIN BLAST
mRNA	gnptab-203 (1) Ensembl	Ensembl	4,815 nt	Select Tool
ncRNA	gnptab-002 (1) Ensembl	Ensembl	549 nt	Select Tool

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