Gnptab N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Gnptabprovided by MGI
Official Full Name: N-acetylglucosamine-1-phosphate transferase, alpha and beta subunitsprovided by MGI
Primary source: MGI:MGI:3643902
See related: Ensembl:ENSMUSG00000035311 AllianceGenome:MGI:3643902
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: EG432486
Summary: Predicted to enable UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity. Acts upstream of or within carbohydrate phosphorylation; establishment of localization in cell; and secretion of lysosomal enzymes. Predicted to be located in Golgi membrane. Predicted to be active in Golgi apparatus. 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). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in CNS E18 (RPKM 16.6), subcutaneous fat pad adult (RPKM 10.3) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 10 C1; 10 43.86 cM

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	10	NC_000076.7 (88215130..88283186)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	10	NC_000076.6 (88379134..88447324)

Chromosome 10 - NC_000076.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

novel mouse model of MLII homozygous for a patient mutation in the GNPTAB gene.
Title: A novel mouse model of a patient mucolipidosis II mutation recapitulates disease pathology.
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.
Retinal degeneration with storage disease phenotype in most exocrine glands in Gnptab null mice
Title: Comparative pathology of murine mucolipidosis types II and IIIC.
Vacuolization of mucolipidosis type II mouse exocrine gland cells (GlcNAc-1-phosphotransferase-deficient mice) represents accumulation of autolysosomes.
Title: Vacuolization of mucolipidosis type II mouse exocrine gland cells represents accumulation of autolysosomes.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (1) 1 citation
Endonuclease-mediated (5)
Gene trapped (1) 1 citation
Targeted (6) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

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	ISO Inferred from Sequence Orthology more info
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

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	ISO Inferred from Sequence Orthology more info
involved_in N-glycan processing to lysosome	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within carbohydrate phosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in carbohydrate phosphorylation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within establishment of localization in cell	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lysosome organization	ISO Inferred from Sequence Orthology more info
involved_in lysosome organization	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within protein secretion	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within secretion of lysosomal enzymes	IMP Inferred from Mutant Phenotype more info	PubMed

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

General protein information

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

Names: UDP-N-acetylglucosamine-1-phosphotransferase subunits alpha/beta; glcNAc-1-phosphotransferase subunits alpha/beta; stealth protein GNPTAB

NP_001004164.2

EC 2.7.8.17

NP_001351636.1

EC 2.7.8.17

NP_001408246.1

EC 2.7.8.17

NP_001408247.1

EC 2.7.8.17

NP_001408248.1

EC 2.7.8.17

XP_006513912.1

EC 2.7.8.17

XP_017169515.1

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_001004164.3 → NP_001004164.2 N-acetylglucosamine-1-phosphotransferase subunits alpha/beta isoform 1

See identical proteins and their annotated locations for NP_001004164.2

Status: VALIDATED

Source sequence(s)

AK140867, AK173132

Consensus CDS

CCDS24110.1

UniProtKB/Swiss-Prot

Q3U3K6, Q3US34, Q69ZN6

Related

ENSMUSP00000020251.8, ENSMUST00000020251.10

Conserved Domains (6) summary

pfam00066
Location:435 → 469

Notch; LNR domain

pfam06464
Location:699 → 811

DMAP_binding; DMAP1-binding Domain

pfam11380
Location:322 → 429

Stealth_CR2; Stealth protein CR2, conserved region 2

pfam17101
Location:73 → 101

Stealth_CR1; Stealth protein CR1, conserved region 1

pfam17102
Location:934 → 982

Stealth_CR3; Stealth protein CR3, conserved region 3

pfam17103
Location:1117 → 1173

Stealth_CR4; Stealth protein CR4, conserved region 4
NM_001364707.2 → NP_001351636.1 N-acetylglucosamine-1-phosphotransferase subunits alpha/beta isoform 2

Status: VALIDATED

Source sequence(s)

AC125486

Conserved Domains (6) summary

pfam06464
Location:653 → 765

DMAP_binding; DMAP1-binding Domain

pfam00066
Location:390 → 423

Notch; LNR domain

pfam11380
Location:276 → 383

Stealth_CR2; Stealth protein CR2, conserved region 2

pfam17101
Location:27 → 55

Stealth_CR1; Stealth protein CR1, conserved region 1

pfam17102
Location:888 → 936

Stealth_CR3; Stealth protein CR3, conserved region 3

pfam17103
Location:1071 → 1127

Stealth_CR4; Stealth protein CR4, conserved region 4
NM_001421317.1 → NP_001408246.1 N-acetylglucosamine-1-phosphotransferase subunits alpha/beta isoform 3 precursor

Status: VALIDATED

Source sequence(s)

AC125486
NM_001421318.1 → NP_001408247.1 N-acetylglucosamine-1-phosphotransferase subunits alpha/beta isoform 4

Status: VALIDATED

Source sequence(s)

AC125486
NM_001421319.1 → NP_001408248.1 N-acetylglucosamine-1-phosphotransferase subunits alpha/beta isoform 5

Status: VALIDATED

Source sequence(s)

AC125486

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000076.7 Reference GRCm39 C57BL/6J

Range

88215130..88283186

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006513849.3 → XP_006513912.1 N-acetylglucosamine-1-phosphotransferase subunits alpha/beta isoform X2

Conserved Domains (4) summary

pfam00066
Location:27 → 60

Notch; LNR domain

pfam06464
Location:290 → 402

DMAP_binding; DMAP1-binding Domain

pfam17102
Location:525 → 573

Stealth_CR3; Stealth protein CR3, conserved region 3

pfam17103
Location:708 → 764

Stealth_CR4; Stealth protein CR4, conserved region 4
XM_017314026.2 → XP_017169515.1 N-acetylglucosamine-1-phosphotransferase subunits alpha/beta isoform X3

Conserved Domains (3) summary

pfam06464
Location:98 → 210

DMAP_binding; DMAP1-binding Domain

pfam17102
Location:333 → 381

Stealth_CR3; Stealth protein CR3, conserved region 3

pfam17103
Location:516 → 572

Stealth_CR4; Stealth protein CR4, conserved region 4