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 ZFIN BLAST
mRNA	gnptab-201 (1) Ensembl	Ensembl	4,202 nt	Select Tool ZFIN BLAST
mRNA	gnptab-203 (1) Ensembl	Ensembl	4,815 nt	Select Tool ZFIN BLAST
ncRNA	gnptab-002 (1) Ensembl	Ensembl	549 nt	Select Tool ZFIN BLAST

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