gnptab N-acetylglucosamine-1-phosphate transferase subunits alpha and beta [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: gnptabprovided by ZNC
Official Full Name: N-acetylglucosamine-1-phosphate transferase subunits alpha and betaprovided by ZNC
Primary source: ZFIN:ZDB-GENE-030131-4714
See related: Ensembl:ENSDARG00000030153 AllianceGenome:ZFIN:ZDB-GENE-030131-4714
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as: wu:fd55d09; zgc:122985; zgc:158502; si:ch211-234f20.3
Summary: 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. Predicted to be active in Golgi apparatus. Used to study mucolipidosis and 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). [provided by Alliance of Genome Resources, Dec 2024]
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 4

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCz11 (GCF_000002035.6)	4	NC_007115.7 (17671631..17705108)
105	previous assembly	GRCz10 (GCF_000002035.5)	4	NC_007115.6 (17682604..17716132)

Chromosome 4 - NC_007115.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
BioProject: PRJEB1986
Analysis date: Fri Dec 8 19:48:10 2017

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Inappropriate cathepsin K secretion promotes its enzymatic activation driving heart and valve malformation.
Title: Inappropriate cathepsin K secretion promotes its enzymatic activation driving heart and valve malformation.
The DMAP interaction domain of the alpha subunit functions in the selective recognition of acid hydrolase substrates and provides an explanation for the impaired phosphorylation of acid hydrolases in a patient with mucolipidosis II.
Title: The DMAP interaction domain of UDP-GlcNAc:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase is a substrate recognition module.

Submit: New GeneRIF Correction

General gene information

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Gene Ontology Provided by ZFIN

Function	Evidence Code	Pubs
enables UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity	IEA Inferred from Electronic Annotation more info
enables UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity	ISS Inferred from Sequence or Structural Similarity more info
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables transferase activity	IEA Inferred from Electronic Annotation more info
enables transferase activity, transferring phosphorus-containing groups	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in N-glycan processing to lysosome	IBA Inferred from Biological aspect of Ancestor more info
involved_in N-glycan processing to lysosome	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in N-glycan processing to lysosome	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within bone development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within bone development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in carbohydrate phosphorylation	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within cartilage development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within cartilage development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within chondrocyte development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic cranial skeleton morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic viscerocranium morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within heart morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lysosome organization	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
is_active_in Golgi apparatus	IBA Inferred from Biological aspect of Ancestor more info
located_in Golgi apparatus	IEA Inferred from Electronic Annotation more info
located_in Golgi membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: N-acetylglucosamine-1-phosphotransferase subunits alpha/beta

Names: N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits; UDP-N-acetylglucosamine-1-phosphotransferase subunits alpha/beta; glcNAc-1-phosphotransferase subunits alpha/beta; stealth protein gnptab

NP_001038233.1

EC 2.7.8.17

XP_005164801.1

EC 2.7.8.17

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001044768.3 → NP_001038233.1 N-acetylglucosamine-1-phosphotransferase subunits alpha/beta

See identical proteins and their annotated locations for NP_001038233.1

Status: PROVISIONAL

Source sequence(s)

BX890572

UniProtKB/Swiss-Prot

Q568G1, Q5RGJ8

Related

ENSDARP00000106477.3, ENSDART00000121714.5

Conserved Domains (6) summary

pfam00066
Location:440 → 474

Notch; LNR domain

pfam06464
Location:696 → 775

DMAP_binding; DMAP1-binding Domain

pfam11380
Location:327 → 434

Stealth_CR2; Stealth protein CR2, conserved region 2

pfam17101
Location:78 → 106

Stealth_CR1; Stealth protein CR1, conserved region 1

pfam17102
Location:920 → 968

Stealth_CR3; Stealth protein CR3, conserved region 3

pfam17103
Location:1103 → 1159

Stealth_CR4; Stealth protein CR4, conserved region 4

RefSeqs of Annotated Genomes: GCF_000002035.6-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCz11 Primary Assembly

Genomic

NC_007115.7 Reference GRCz11 Primary Assembly

Range

17671631..17705108

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005164744.5 → XP_005164801.1 N-acetylglucosamine-1-phosphotransferase subunits alpha/beta isoform X1

UniProtKB/TrEMBL

A0A8M2BBZ0

Related

ENSDARP00000040444.7, ENSDART00000040445.7

Conserved Domains (6) summary

pfam00066
Location:440 → 474

Notch; LNR domain

pfam06464
Location:699 → 778

DMAP_binding; DMAP1-binding Domain

pfam11380
Location:327 → 434

Stealth_CR2; Stealth protein CR2, conserved region 2

pfam17101
Location:78 → 106

Stealth_CR1; Stealth protein CR1, conserved region 1

pfam17102
Location:923 → 971

Stealth_CR3; Stealth protein CR3, conserved region 3

pfam17103
Location:1106 → 1162

Stealth_CR4; Stealth protein CR4, conserved region 4