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Aliases for GNPTAB Gene

Aliases for GNPTAB Gene

  • N-Acetylglucosamine-1-Phosphate Transferase, Alpha And Beta Subunits 2 3
  • GNPTA 3 4 6
  • UDP-N-Acetylglucosamine-1-Phosphotransferase Subunits Alpha/Beta 3 4
  • GlcNAc-1-Phosphotransferase Subunits Alpha/Beta 3 4
  • Stealth Protein GNPTAB 3 4
  • Glucosamine (UDP-N-Acetyl)-Lysosomal-Enzyme N-Acetylglucosamine Phosphotransferase 3
  • N-Acetylglucosamine-1-Phosphotransferase Subunits Alpha/Beta 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 Symbols for GNPTAB Gene

  • GNPTA

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 UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity.

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

Genomic Location for GNPTAB Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for GNPTAB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GNPTAB Gene

Regulatory Elements 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

    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.
  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn83, Asn114, Asn148, Asn179, Asn250, Asn614, Asn699, Asn729, Asn759, Ser782, Thr789, Ser794, Thr812, Thr813, Asn829, Ser837, Ser844, Thr847, Thr873, Asn1009, Thr1098, and Asn1129

Other Protein References for GNPTAB Gene

No data available for DME Specific Peptides for GNPTAB Gene

Domains for GNPTAB Gene

Gene Families for GNPTAB Gene

HGNC:
  • EFHAND :EF-hand domain containing

Protein Domains for GNPTAB Gene

UniProtKB/Swiss-Prot:

GNPTA_HUMAN
Domain:
  • The DMAP-interaction domain mediates substrate recognition. It specifically recognizes a conformation-dependent protein determinant present in acid hydrolases (PubMed:23733939).:
    • Q3T906
  • Contains 1 DMAP-interaction domain.:
    • Q3T906
  • Contains 1 EF-hand domain.:
    • Q3T906
Family:
  • Belongs to the stealth family.:
    • Q3T906
Similarity:
  • Contains 2 LNR (Lin/Notch) repeats.:
    • Q3T906
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:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 25416956
GO:0008134 transcription factor binding IEA --
GO:0016772 transferase activity, transferring phosphorus-containing groups --
genes like me logo Genes that share ontologies with GNPTAB: view
genes like me logo Genes that share phenotypes with GNPTAB: view

miRNA for GNPTAB Gene

miRTarBase miRNAs that target GNPTAB

No data available for Animal Models , Transcription Factor Targeting 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
plasma membrane 3
lysosome 2
nucleus 2
vacuole 2
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 --
GO:0005794 Golgi apparatus IDA 21719679
GO:0016020 membrane --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with GNPTAB: view

Pathways 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:0007040 lysosome organization IMP 21719679
GO:0009306 protein secretion IEA --
GO:0016256 N-glycan processing to lysosome IMP 19938078
GO:0030154 cell differentiation IEA --
GO:0046835 carbohydrate phosphorylation IDA 19955174
genes like me logo Genes that share ontologies with GNPTAB: view

Compounds for GNPTAB Gene

(3) HMDB Compounds for GNPTAB Gene

Compound Synonyms Cas Number PubMed IDs
D-Mannose
  • DL-mannose
3458-28-4
Uridine 5'-monophosphate
  • 5'-UMP
58-97-9
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
528-04-1

(5) Novoseek inferred chemical compound relationships for GNPTAB Gene

Compound -log(P) Hits PubMed IDs
udp-n-acetylglucosamine 88.1 5
mannose 6-phosphate 87.9 4
phosphodiester 58.8 4
mannose 53.7 2
n-acetylglucosamine 53.4 2
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

Integrated Proteomics: protein expression 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 expressions with GNPTAB: view

Orthologs for GNPTAB Gene

This gene was present in the common ancestor of animals.

Orthologs for GNPTAB Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GNPTAB 36
  • 99.5 (n)
  • 99.6 (a)
GNPTAB 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GNPTAB 36
  • 87.92 (n)
  • 88.6 (a)
GNPTAB 37
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GNPTAB 36
  • 89.55 (n)
  • 90.9 (a)
GNPTAB 37
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gnptab 36
  • 84.75 (n)
  • 87.69 (a)
Gnptab 16
Gnptab 37
  • 88 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GNPTAB 37
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GNPTAB 37
  • 83 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gnptab 36
  • 83.88 (n)
  • 87.05 (a)
chicken
(Gallus gallus)
Aves GNPTAB 36
  • 76.02 (n)
  • 79.16 (a)
GNPTAB 37
  • 73 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GNPTAB 37
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gnptab 36
  • 67.75 (n)
  • 69.25 (a)
zebrafish
(Danio rerio)
Actinopterygii gnptab 36
  • 65.86 (n)
  • 67.28 (a)
gnptab 37
  • 65 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG8027 37
  • 34 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 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 MAF
rs58881 -- 101,789,479(+) TGttt(C/T)gttct intron-variant
rs58882 -- 101,789,509(+) agaca(A/G)ggtct intron-variant
rs170308 -- 101,832,737(+) gtaga(C/G)atggg upstream-variant-2KB
rs178446 -- 101,832,759(+) ttggt(C/T)aggct upstream-variant-2KB
rs182632 -- 101,832,743(+) atggg(C/G)tttca upstream-variant-2KB

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

Relevant External Links for GNPTAB Gene

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

Disorders for GNPTAB Gene

(2) OMIM Diseases for GNPTAB Gene (607840)

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}. 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}. 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}.

(2) University of Copenhagen DISEASES for GNPTAB Gene

(3) Novoseek inferred disease relationships for GNPTAB Gene

Disease -log(P) Hits PubMed IDs
mucolipidosis iii 97.2 3
i-cell disease 96.9 15
mucolipidosis 95 3

Relevant External Links for GNPTAB

GeneTests
GNPTAB
GeneReviews
GNPTAB
Genetic Association Database (GAD)
GNPTAB
Human Genome Epidemiology (HuGE) Navigator
GNPTAB
genes like me logo Genes that share disorders with GNPTAB: view

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 49
  2. 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 4 23
  3. Molecular analysis of cell lines from patients with mucolipidosis II and mucolipidosis III. (PMID: 19938078) Zarghooni M. … Dittakavi S.S. (Am. J. Med. Genet. A 2009) 3 4 23
  4. Mutations in the lysosomal enzyme-targeting pathway and persistent stuttering. (PMID: 20147709) Kang C. … Drayna D. (N. Engl. J. Med. 2010) 3 4 23
  5. Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10574462) Nagase T. … Ohara O. (DNA Res. 1999) 2 3 4

Products for GNPTAB Gene

  • antibodies-online peptides for GNPTAB
  • antibodies-online antibodies for GNPTAB
  • antibodies-online kits for GNPTAB

Sources for GNPTAB Gene

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