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Aliases for GNPTAB Gene

Aliases for GNPTAB Gene

  • N-Acetylglucosamine-1-Phosphate Transferase Alpha And Beta Subunits 2 3
  • N-Acetylglucosamine-1-Phosphate Transferase, Alpha And Beta Subunits 2 3 5
  • UDP-N-Acetylglucosamine-1-Phosphotransferase Subunits Alpha/Beta 3 4
  • GlcNAc-1-Phosphotransferase Subunits Alpha/Beta 3 4
  • Stealth Protein GNPTAB 3 4
  • GNPTA 3 4
  • Glucosamine (UDP-N-Acetyl)-Lysosomal-Enzyme N-Acetylglucosamine Phosphotransferase 3
  • UDP-N-Acetylglucosamine-Lysosomal-Enzyme N-Acetylglucosamine 3
  • GlcNAc Phosphotransferase 3
  • EC 2.7.8.17 4
  • KIAA1208 4
  • ICD 3

External Ids for GNPTAB Gene

Previous HGNC Symbols for GNPTAB Gene

  • GNPTA

Previous GeneCards Identifiers for GNPTAB Gene

  • GC12M100642
  • GC12M100663
  • GC12M102139
  • GC12M099198

Summaries for GNPTAB Gene

Entrez Gene Summary for GNPTAB Gene

  • This gene encodes two of three subunit types of the membrane-bound enzyme N-acetylglucosamine-1-phosphotransferase, a heterohexameric complex composed of two alpha, two beta, and two gamma subunits. The encoded protein is proteolytically cleaved at the Lys928-Asp929 bond to yield mature alpha and beta polypeptides while the gamma subunits are the product of a distinct gene (GeneID 84572). In the Golgi apparatus, the heterohexameric complex catalyzes the first step in the synthesis of mannose 6-phosphate recognition markers on certain oligosaccharides of newly synthesized lysosomal enzymes. These recognition markers are essential for appropriate trafficking of lysosomal enzymes. Mutations in this gene have been associated with both mucolipidosis II and mucolipidosis IIIA.[provided by RefSeq, May 2010]

GeneCards Summary for GNPTAB Gene

GNPTAB (N-Acetylglucosamine-1-Phosphate Transferase Alpha And Beta Subunits) is a Protein Coding gene. Diseases associated with GNPTAB include mucolipidosis iii alpha/beta and mucolipidosis ii alpha/beta. Among its related pathways are Lysosome. GO annotations related to this gene include calcium ion binding and transcription factor binding.

UniProtKB/Swiss-Prot for GNPTAB Gene

  • Catalyzes the formation of mannose 6-phosphate (M6P) markers on high mannose type oligosaccharides in the Golgi apparatus. M6P residues are required to bind to the M6P receptors (MPR), which mediate the vesicular transport of lysosomal enzymes to the endosomal/prelysosomal compartment.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GNPTAB Gene

Genomics for GNPTAB Gene

Regulatory Elements for GNPTAB Gene

Promoters for GNPTAB Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around GNPTAB on UCSC Golden Path with GeneCards custom track

Genomic Location for GNPTAB Gene

Chromosome:
12
Start:
101,745,497 bp from pter
End:
101,830,938 bp from pter
Size:
85,442 bases
Orientation:
Minus strand

Genomic View for GNPTAB Gene

Genes around GNPTAB on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GNPTAB Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GNPTAB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GNPTAB Gene

Proteins for GNPTAB Gene

  • Protein details for GNPTAB Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q3T906-GNPTA_HUMAN
    Recommended name:
    N-acetylglucosamine-1-phosphotransferase subunits alpha/beta
    Protein Accession:
    Q3T906
    Secondary Accessions:
    • A2RRQ9
    • Q3ZQK2
    • Q6IPW5
    • Q86TQ2
    • Q96N13
    • Q9ULL2

    Protein attributes for GNPTAB Gene

    Size:
    1256 amino acids
    Molecular mass:
    143622 Da
    Quaternary structure:
    • Hexamer of two alpha, two beta and two gamma (GNPTG) subunits; disulfide-linked. The alpha and/or the beta subunits of the enzyme constitute the catalytic subunits.
    Miscellaneous:
    • Due to the low pH in the endosomal/prelysosomal compartment, the lysosomal enzyme-MPR complex dissociates and then the enzyme is delivered to the lysosome. Between 5% and 20% of newly synthesized lysosomal enzymes escape the binding to the MPR in the Golgi apparatus and are secreted.
    • Stealth proteins are part of a protein family that is conserved from bacteria to higher eukaryotes. Family members were first identified in microbes as proteins that help pathogens to elude the host innate immune system. Microbial stealth proteins are most likely involved in the biosynthesis of exopolysaccharides. Stealth proteins are predicted to function as hexose-1-phosphoryltransferases.

    Three dimensional structures from OCA and Proteopedia for GNPTAB Gene

    Alternative splice isoforms for GNPTAB Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GNPTAB Gene

Proteomics data for GNPTAB Gene at MOPED

Post-translational modifications for GNPTAB Gene

  • The alpha- and beta-subunits are generated by a proteolytic cleavage by MBTPS1 protease at the Lys-928-Asp-929 bond.
  • Glycosylation at Asn 83, Asn 114, Asn 148, Asn 179, Asn 250, Asn 614, Asn 699, Asn 729, Asn 759, Ser 782, Thr 789, Thr 813, Asn 829, Ser 844, Thr 873, Asn 1009, Thr 1098, and Asn 1129
  • Modification sites at PhosphoSitePlus

Other Protein References for GNPTAB Gene

No data available for DME Specific Peptides for GNPTAB Gene

Domains & Families for GNPTAB Gene

Gene Families for GNPTAB Gene

Protein Domains for GNPTAB Gene

Suggested Antigen Peptide Sequences for GNPTAB Gene

Graphical View of Domain Structure for InterPro Entry

Q3T906

UniProtKB/Swiss-Prot:

GNPTA_HUMAN :
  • The DMAP-interaction domain mediates substrate recognition. It specifically recognizes a conformation-dependent protein determinant present in acid hydrolases (PubMed:23733939).
  • Belongs to the stealth family.
  • Contains 2 LNR (Lin/Notch) repeats.
Domain:
  • The DMAP-interaction domain mediates substrate recognition. It specifically recognizes a conformation-dependent protein determinant present in acid hydrolases (PubMed:23733939).
  • Contains 1 DMAP-interaction domain.
  • Contains 1 EF-hand domain.
Family:
  • Belongs to the stealth family.
Similarity:
  • Contains 2 LNR (Lin/Notch) repeats.
genes like me logo Genes that share domains with GNPTAB: view

Function for GNPTAB Gene

Molecular function for GNPTAB Gene

UniProtKB/Swiss-Prot CatalyticActivity:
UDP-N-acetyl-D-glucosamine + lysosomal-enzyme D-mannose = UMP + lysosomal-enzyme N-acetyl-D-glucosaminyl-phospho-D-mannose.
UniProtKB/Swiss-Prot Function:
Catalyzes the formation of mannose 6-phosphate (M6P) markers on high mannose type oligosaccharides in the Golgi apparatus. M6P residues are required to bind to the M6P receptors (MPR), which mediate the vesicular transport of lysosomal enzymes to the endosomal/prelysosomal compartment.

Enzyme Numbers (IUBMB) for GNPTAB Gene

Gene Ontology (GO) - Molecular Function for GNPTAB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003976 UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity IMP 25505245
GO:0008134 transcription factor binding IEA --
genes like me logo Genes that share ontologies with GNPTAB: view
genes like me logo Genes that share phenotypes with GNPTAB: view

Human Phenotype Ontology for GNPTAB Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for GNPTAB Gene

Localization for GNPTAB Gene

Subcellular locations from UniProtKB/Swiss-Prot for GNPTAB Gene

N-acetylglucosamine-1-phosphotransferase subunit alpha: Golgi apparatus membrane; Single-pass type I membrane protein.
N-acetylglucosamine-1-phosphotransferase subunit beta: Golgi apparatus membrane; Single-pass type II membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GNPTAB Gene COMPARTMENTS Subcellular localization image for GNPTAB gene
Compartment Confidence
golgi apparatus 5
nucleus 3
plasma membrane 3
lysosome 2
vacuole 2
endosome 1
extracellular 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for GNPTAB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IDA 23733939
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with GNPTAB: view

Pathways & Interactions for GNPTAB Gene

SuperPathways for GNPTAB Gene

Superpath Contained pathways
1 Lysosome
genes like me logo Genes that share pathways with GNPTAB: view

Pathways by source for GNPTAB Gene

1 KEGG pathway for GNPTAB Gene

Gene Ontology (GO) - Biological Process for GNPTAB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016256 N-glycan processing to lysosome IMP 19938078
genes like me logo Genes that share ontologies with GNPTAB: view

No data available for SIGNOR curated interactions for GNPTAB Gene

Drugs & Compounds for GNPTAB Gene

(1) Drugs for GNPTAB Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Uridine-5'-Monophosphate Experimental Pharma 0

(7) Additional Compounds for GNPTAB Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
D-Mannose
  • (+)-mannose
  • (+-)-mannose
  • Carubinose
  • D(+)-Mannose
  • D-Mannopyranose
3458-28-4
Uridine diphosphate-N-acetylglucosamine
  • N-[2-[[[5-[(2,4-Dioxo-1H-pyrimidin-1-yl)]-3,4-dihydroxy-tetrahydrofuran-2-yl]methoxy-hydroxy-phosphinoyl]oxy-hydroxy-phosphinoyl]oxy-4,5-dihydroxy-6-(hydroxymethyl)tetrahydropyran-3-yl]acetamide
  • UDP-a-D-N-Acetylglucosamine
  • UDP-Acetyl-D-glucosamine
  • UDP-Acetyl-delta-glucosamine
  • UDP-Acetylglucosamine
528-04-1
genes like me logo Genes that share compounds with GNPTAB: view

Transcripts for GNPTAB Gene

Unigene Clusters for GNPTAB Gene

N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for GNPTAB Gene

No ASD Table

Relevant External Links for GNPTAB Gene

GeneLoc Exon Structure for
GNPTAB
ECgene alternative splicing isoforms for
GNPTAB

Expression for GNPTAB Gene

mRNA expression in normal human tissues for GNPTAB Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for GNPTAB Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (50.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for GNPTAB Gene



SOURCE GeneReport for Unigene cluster for GNPTAB Gene Hs.46850

mRNA Expression by UniProt/SwissProt for GNPTAB Gene

Q3T906-GNPTA_HUMAN
Tissue specificity: Expressed in the heart, whole brain, placenta, lung, liver, skeletal muscle, kidney and pancreas.
genes like me logo Genes that share expression patterns with GNPTAB: view

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for GNPTAB Gene

Orthologs for GNPTAB Gene

This gene was present in the common ancestor of animals.

Orthologs for GNPTAB Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia GNPTAB 35
  • 87.92 (n)
  • 88.6 (a)
GNPTAB 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GNPTAB 35
  • 89.55 (n)
  • 90.9 (a)
GNPTAB 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gnptab 35
  • 84.75 (n)
  • 87.69 (a)
Gnptab 16
Gnptab 36
  • 88 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GNPTAB 35
  • 99.5 (n)
  • 99.6 (a)
GNPTAB 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gnptab 35
  • 83.88 (n)
  • 87.05 (a)
oppossum
(Monodelphis domestica)
Mammalia GNPTAB 36
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GNPTAB 36
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves GNPTAB 35
  • 76.02 (n)
  • 79.16 (a)
GNPTAB 36
  • 73 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GNPTAB 36
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gnptab 35
  • 67.75 (n)
  • 69.25 (a)
zebrafish
(Danio rerio)
Actinopterygii gnptab 35
  • 65.86 (n)
  • 67.28 (a)
gnptab 36
  • 65 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG8027 36
  • 34 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 42 (a)
OneToOne
Species with no ortholog for GNPTAB:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for GNPTAB Gene

ENSEMBL:
Gene Tree for GNPTAB (if available)
TreeFam:
Gene Tree for GNPTAB (if available)

Paralogs for GNPTAB Gene

Pseudogenes.org Pseudogenes for GNPTAB Gene

genes like me logo Genes that share paralogs with GNPTAB: view

No data available for Paralogs for GNPTAB Gene

Variants for GNPTAB Gene

Sequence variations from dbSNP and Humsavar for GNPTAB Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
VAR_025416 Mucolipidosis type III complementation group A (MLIIIA)
VAR_025417 -
rs34159654 Mucolipidosis type III complementation group A (MLIIIA) 101,830,666(-) TGTTC(A/C)AGCTC reference, missense
rs7958709 - 101,770,477(+) GACAA(G/T)GAAAA reference, missense
VAR_027511 Mucolipidosis type II (MLII)

Structural Variations from Database of Genomic Variants (DGV) for GNPTAB Gene

Variant ID Type Subtype PubMed ID
nsv832497 CNV Gain 17160897
esv2615882 CNV Insertion 19546169
nsv861 CNV Insertion 18451855

Variation tolerance for GNPTAB Gene

Residual Variation Intolerance Score: 16% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.36; 63.34% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GNPTAB Gene

HapMap Linkage Disequilibrium report
GNPTAB
Human Gene Mutation Database (HGMD)
GNPTAB

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GNPTAB Gene

Disorders for GNPTAB Gene

MalaCards: The human disease database

(12) MalaCards diseases for GNPTAB Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
mucolipidosis iii alpha/beta
  • pseudo-hurler polydystrophy
mucolipidosis ii alpha/beta
  • i-cell disease
mucopolysaccharidisis type iiia
  • heparan sulfate sulfatase deficiency
gnptab-related mucolipidoses
stuttering
  • familial persistent stuttering
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

GNPTA_HUMAN
  • Mucolipidosis type II (MLII) [MIM:252500]: Fatal, autosomal recessive, lysosomal storage disorder characterized by severe clinical and radiologic features, peculiar fibroblast inclusions, and no excessive mucopolysacchariduria. Congenital dislocation of the hip, thoracic deformities, hernia, and hyperplastic gums are evident soon after birth. {ECO:0000269 PubMed:16200072, ECO:0000269 PubMed:16835905, ECO:0000269 PubMed:19197337, ECO:0000269 PubMed:19617216, ECO:0000269 PubMed:19634183, ECO:0000269 PubMed:19938078, ECO:0000269 PubMed:22495880, ECO:0000269 PubMed:23566849, ECO:0000269 PubMed:23733939, ECO:0000269 PubMed:23773965, ECO:0000269 PubMed:24375680, ECO:0000269 PubMed:24798265, ECO:0000269 PubMed:25505245, ECO:0000269 PubMed:25788519}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Mucolipidosis type III complementation group A (MLIIIA) [MIM:252600]: Autosomal recessive disease of lysosomal enzyme targeting. Clinically MLIII is characterized by restricted joint mobility, skeletal dysplasia, and short stature. Mildly coarsened facial features and thickening of the skin have been described. Cardiac valvular disease and corneal clouding may also occur. Half of the reported patients show learning disabilities or mental retardation. {ECO:0000269 PubMed:16094673, ECO:0000269 PubMed:16465621, ECO:0000269 PubMed:16630736, ECO:0000269 PubMed:17034777, ECO:0000269 PubMed:19197337, ECO:0000269 PubMed:19617216, ECO:0000269 PubMed:19634183, ECO:0000269 PubMed:19938078, ECO:0000269 PubMed:23566849, ECO:0000269 PubMed:24045841, ECO:0000269 PubMed:24375680, ECO:0000269 PubMed:24550498, ECO:0000269 PubMed:25505245, ECO:0000269 PubMed:25788519}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=Defects in GNPTAB have been suggested to play a role in susceptibility to persistent stuttering. Stuttering is a common speech disorder characterized by repetitions, prolongations, and interruptions in the flow of speech. {ECO:0000269 PubMed:20147709}.

Relevant External Links for GNPTAB

Genetic Association Database (GAD)
GNPTAB
Human Genome Epidemiology (HuGE) Navigator
GNPTAB
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GNPTAB
genes like me logo Genes that share disorders with GNPTAB: view

No data available for Genatlas for GNPTAB Gene

Publications for GNPTAB Gene

  1. Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation. (PMID: 19197337) Otomo T. … Sakai N. (J. Hum. Genet. 2009) 3 4 23 48 67
  2. Identification of mutations in the GNPTA (MGC4170) gene coding for GlcNAc-phosphotransferase alpha/beta subunits in Korean patients with mucolipidosis type II or type IIIA. (PMID: 16116615) Paik K.H. … Jin D.K. (Hum. Mutat. 2005) 2 3 23
  3. Mutations in the lysosomal enzyme-targeting pathway and persistent stuttering. (PMID: 20147709) Kang C. … Drayna D. (N. Engl. J. Med. 2010) 3 23
  4. Molecular characterization of 22 novel UDP-N-acetylglucosamine-1- phosphate transferase alpha- and beta-subunit (GNPTAB) gene mutations causing mucolipidosis types IIalpha/beta and IIIalpha/beta in 46 patients. (PMID: 19634183) Tappino B. … Filocamo M. (Hum. Mutat. 2009) 3 23
  5. Molecular analysis of the GNPTAB and GNPTG genes in 13 patients with mucolipidosis type II or type III - identification of eight novel mutations. (PMID: 19659762) EncarnaAsALo M. … Alves S. (Clin. Genet. 2009) 3 23

Products for GNPTAB Gene

Sources for GNPTAB Gene

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