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Aliases for GNPTG Gene

Aliases for GNPTG Gene

  • N-Acetylglucosamine-1-Phosphate Transferase, Gamma Subunit 2 3
  • GNPTAG 3 4 6
  • UDP-N-Acetylglucosamine-1-Phosphotransferase Subunit Gamma 3 4
  • GlcNAc-1-Phosphotransferase Subunit Gamma 3 4
  • C16orf27 3 4
  • N-Acetylglucosamine-1-Phosphotransferase, Gamma Subunit 2
  • N-Acetylglucosamine-1-Phosphotransferase Subunit Gamma 3
  • GlcNAc-Phosphotransferase Gamma-Subunit 2
  • Chromosome 16 Open Reading Frame 27 2
  • LP2537 3
  • RJD9 3

External Ids for GNPTG Gene

Previous HGNC Symbols for GNPTG Gene

  • GNPTAG
  • C16orf27

Previous GeneCards Identifiers for GNPTG Gene

  • GC16P001342
  • GC16P001343
  • GC16P001401

Summaries for GNPTG Gene

Entrez Gene Summary for GNPTG Gene

  • This gene encodes the gamma sunbunit of the N-acetylglucosamine-1-phosphotransferase complex. This hexameric complex, composed of alpha, beta and gamma subunits, catalyzes the first step in synthesis of a mannose 6-phosphate lysosomal recognition marker. This enzyme complex is necessary for targeting of lysosomal hydrolases to the lysosome. Mutations in the gene encoding the gamma subunit have been associated with mucolipidosis IIIC, also known as mucolipidosis III gamma.[provided by RefSeq, Feb 2010]

GeneCards Summary for GNPTG Gene

GNPTG (N-Acetylglucosamine-1-Phosphate Transferase, Gamma Subunit) is a Protein Coding gene. Diseases associated with GNPTG include mucolipidosis iii gamma and stuttering. Among its related pathways are Lysosome.

UniProtKB/Swiss-Prot for GNPTG Gene

  • Non-catalytic subunit of the N-acetylglucosamine-1-phosphotransferase complex, an enzyme that catalyzes the formation of mannose 6-phosphate (M6P) markers on high mannose type oligosaccharides in the Golgi apparatus. Binds and presents the high mannose glycans of the acceptor to the catalytic alpha and beta subunits (GNPTAB). Enhances the rate of N-acetylglucosamine-1-phosphate transfer to the oligosaccharides of acid hydrolase acceptors.

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

Genomics for GNPTG Gene

Regulatory Elements for GNPTG Gene

Genomic Location for GNPTG Gene

Start:
1,351,899 bp from pter
End:
1,364,113 bp from pter
Size:
12,215 bases
Orientation:
Plus strand

Genomic View for GNPTG Gene

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

RefSeq DNA sequence for GNPTG Gene

Proteins for GNPTG Gene

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

    Protein Symbol:
    Q9UJJ9-GNPTG_HUMAN
    Recommended name:
    N-acetylglucosamine-1-phosphotransferase subunit gamma
    Protein Accession:
    Q9UJJ9
    Secondary Accessions:
    • B2R556
    • Q6XYD7
    • Q96L13

    Protein attributes for GNPTG Gene

    Size:
    305 amino acids
    Molecular mass:
    33974 Da
    Quaternary structure:
    • Homodimer; disulfide-linked. Hexamer of two alpha (GNPTAB), two beta (GNPTAB) and two gamma (GNPTG) subunits; disulfide-linked. The alpha and/or the beta subunits of the enzyme constitute the catalytic subunits.
    SequenceCaution:
    • Sequence=AAP34456.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for GNPTG Gene

Proteomics data for GNPTG Gene at MOPED

Post-translational modifications for GNPTG Gene

  • Cys-245 mediates the formation of the interchain disulfide bond for formation of the homofimer. Cys-142, Cys-157 and Cys-169 are involved in intramolecular disulfide bonds formation (By similarity).
  • Glycosylation at Asn88, Asn115, Thr271, Thr274, Thr276, Ser277, Thr286, and Ser291
  • Modification sites at PhosphoSitePlus

Other Protein References for GNPTG Gene

No data available for DME Specific Peptides for GNPTG Gene

Domains for GNPTG Gene

Protein Domains for GNPTG Gene

Suggested Antigen Peptide Sequences for GNPTG Gene

Graphical View of Domain Structure for InterPro Entry

Q9UJJ9

UniProtKB/Swiss-Prot:

GNPTG_HUMAN :
  • Q9UJJ9
Domain:
  • Contains 1 PRKCSH domain.
genes like me logo Genes that share domains with GNPTG: view

No data available for Gene Families for GNPTG Gene

Function for GNPTG Gene

Molecular function for GNPTG Gene

UniProtKB/Swiss-Prot Function: Non-catalytic subunit of the N-acetylglucosamine-1-phosphotransferase complex, an enzyme that catalyzes the formation of mannose 6-phosphate (M6P) markers on high mannose type oligosaccharides in the Golgi apparatus. Binds and presents the high mannose glycans of the acceptor to the catalytic alpha and beta subunits (GNPTAB). Enhances the rate of N-acetylglucosamine-1-phosphate transfer to the oligosaccharides of acid hydrolase acceptors.

Gene Ontology (GO) - Molecular Function for GNPTG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003976 UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity IEA --
GO:0042803 protein homodimerization activity ISS --
genes like me logo Genes that share ontologies with GNPTG: view

Phenotypes for GNPTG Gene

MGI mutant phenotypes for GNPTG:
inferred from 1 alleles
genes like me logo Genes that share phenotypes with GNPTG: view

Animal Models for GNPTG Gene

MGI Knock Outs for GNPTG:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for GNPTG Gene

Localization for GNPTG Gene

Subcellular locations from UniProtKB/Swiss-Prot for GNPTG Gene

Secreted. Golgi apparatus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GNPTG Gene COMPARTMENTS Subcellular localization image for GNPTG gene
Compartment Confidence
extracellular 2
golgi apparatus 2
lysosome 2
vacuole 2
cytosol 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for GNPTG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005794 Golgi apparatus ISS --
GO:0016020 membrane --
GO:0043231 intracellular membrane-bounded organelle --
GO:0070062 extracellular exosome IDA 19199708
genes like me logo Genes that share ontologies with GNPTG: view

Pathways for GNPTG Gene

SuperPathways for GNPTG Gene

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

Pathways by source for GNPTG Gene

1 KEGG pathway for GNPTG Gene

Gene Ontology (GO) - Biological Process for GNPTG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016256 N-glycan processing to lysosome IEA --
GO:0046835 carbohydrate phosphorylation IDA 19955174
genes like me logo Genes that share ontologies with GNPTG: view

Compounds for GNPTG Gene

(2) Novoseek inferred chemical compound relationships for GNPTG Gene

Compound -log(P) Hits PubMed IDs
mannose 6-phosphate 87.2 1
n-acetylglucosamine 50.9 1
genes like me logo Genes that share compounds with GNPTG: view

Transcripts for GNPTG Gene

Unigene Clusters for GNPTG Gene

N-acetylglucosamine-1-phosphate transferase, gamma subunit:
Representative Sequences:

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

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9a · 9b · 9c ^ 10 ^ 11 ^ 12 ^ 13
SP1: - - - - - -
SP2: - - - - - - -
SP3: - - - - -
SP4: - - - - - -
SP5: -
SP6: -
SP7:
SP8:

Relevant External Links for GNPTG Gene

GeneLoc Exon Structure for
GNPTG
ECgene alternative splicing isoforms for
GNPTG

Expression for GNPTG Gene

mRNA expression in normal human tissues for GNPTG Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for GNPTG Gene

SOURCE GeneReport for Unigene cluster for GNPTG Gene Hs.241575

mRNA Expression by UniProt/SwissProt for GNPTG Gene

Q9UJJ9-GNPTG_HUMAN
Tissue specificity: Widely expressed.
genes like me logo Genes that share expressions with GNPTG: view

No data available for mRNA differential expression in normal tissues for GNPTG Gene

Orthologs for GNPTG Gene

This gene was present in the common ancestor of chordates.

Orthologs for GNPTG Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GNPTG 35
  • 99.13 (n)
  • 98.69 (a)
GNPTG 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GNPTG 35
  • 84 (n)
  • 80.87 (a)
GNPTG 36
  • 79 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GNPTG 35
  • 82.61 (n)
  • 80.58 (a)
GNPTG 36
  • 76 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gnptg 35
  • 81.67 (n)
  • 80.71 (a)
Gnptg 16
Gnptg 36
  • 78 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GNPTG 36
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GNPTG 36
  • 61 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gnptg 35
  • 81.43 (n)
  • 80 (a)
chicken
(Gallus gallus)
Aves GNPTG 35
  • 65.94 (n)
  • 68.36 (a)
GNPTG 36
  • 63 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GNPTG 36
  • 57 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.15434 35
tropical clawed frog
(Silurana tropicalis)
Amphibia gnptg 35
  • 62.17 (n)
  • 63.5 (a)
Str.305 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10461 35
zebrafish
(Danio rerio)
Actinopterygii gnptg 35
  • 59.27 (n)
  • 59.27 (a)
gnptg 36
  • 51 (a)
OneToOne
wufc67g11 35
Species with no ortholog for GNPTG:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 GNPTG Gene

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

Paralogs for GNPTG Gene

Selected SIMAP similar genes for GNPTG Gene using alignment to 4 proteins:

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

No data available for Paralogs for GNPTG Gene

Variants for GNPTG Gene

Sequence variations from dbSNP and Humsavar for GNPTG Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type MAF
rs742459 -- 1,355,525(-) GCTCC(C/G)GACTC intron-variant
rs742460 -- 1,355,536(-) CAAGG(A/G)ACGAG intron-variant
rs742461 -- 1,355,663(-) GGGCT(A/G)TGCTG intron-variant
rs761057 -- 1,354,725(+) TTAAT(C/T)TGGAA intron-variant
rs873510 -- 1,354,818(+) CTCCA(A/G)ACCAT intron-variant

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

Variant ID Type Subtype PubMed ID
esv2422427 CNV Duplication 17116639
nsv471066 CNV Loss 18288195
nsv428316 CNV Gain+Loss 18775914
dgv2505n71 CNV Loss 21882294
dgv2525n71 CNV Loss 21882294
nsv904950 CNV Loss 21882294
nsv904954 CNV Loss 21882294
dgv2527n71 CNV Loss 21882294
dgv2528n71 CNV Loss 21882294
dgv2529n71 CNV Loss 21882294
nsv904978 CNV Loss 21882294
dgv2530n71 CNV Loss 21882294
dgv2531n71 CNV Loss 21882294
esv2750327 CNV Deletion 23290073
esv2750328 CNV Deletion 23290073
esv2750330 CNV Deletion 23290073
esv2750331 CNV Deletion 23290073
esv2750332 CNV Deletion 23290073
esv2750333 CNV Deletion 23290073
esv2660383 CNV Deletion 23128226
nsv827493 CNV Gain 20364138

Relevant External Links for GNPTG Gene

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

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

Disorders for GNPTG Gene

MalaCards: The human disease database

MalaCards: The human disease database. (4) Diseases for GNPTG Gene including...

Search for GNPTG Gene in MalaCards »

(1) OMIM Diseases for GNPTG Gene (607838)

UniProtKB/Swiss-Prot

GNPTG_HUMAN
  • Mucolipidosis type III complementation group C (MLIIIC) [MIM:252605]: Autosomal recessive disease of lysosomal hydrolase trafficking. Unlike the related diseases, mucolipidosis II and IIIA, the enzyme affected in mucolipidosis IIIC (GlcNAc-phosphotransferase) retains full transferase activity on synthetic substrates but lacks activity on lysosomal hydrolases. Typical clinical findings include stiffness of the hands and shoulders, claw-hand deformity, scoliosis, short stature, coarse facies, and mild mental retardation. Radiographically, severe dysostosis multiplex of the hip is characteristic and frequently disabling. The clinical diagnosis can be confirmed by finding elevated serum lysosomal enzyme levels and/or decreased lysosomal enzyme levels in cultured fibroblasts. {ECO:0000269 PubMed:10712439, ECO:0000269 PubMed:15532026, ECO:0000269 PubMed:24316125}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=Defects in GNPTG 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 GNPTG Gene

(2) Novoseek inferred disease relationships for GNPTG Gene

Disease -log(P) Hits PubMed IDs
mucolipidosis iii 98.5 5
i-cell disease 94.5 6
genes like me logo Genes that share disorders with GNPTG: view

Publications for GNPTG Gene

  1. Mutations in the lysosomal enzyme-targeting pathway and persistent stuttering. (PMID: 20147709) Kang C. … Drayna D. (N. Engl. J. Med. 2010) 3 4 23
  2. Molecular basis of variant pseudo-Hurler polydystrophy (mucolipidosis IIIC). (PMID: 10712439) Raas-Rothschild A. … Canfield W.M. (J. Clin. Invest. 2000) 2 3 4
  3. Loss of N-acetylglucosamine-1-phosphotransferase gamma subunit due to intronic mutation in GNPTG causes mucolipidosis type III gamma: Implications for molecular and cellular diagnostics. (PMID: 20034096) Pohl S. … Braulke T. (Am. J. Med. Genet. A 2010) 3 23
  4. A novel mutation in UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) in two siblings with mucolipidosis type III alters a used glycosylation site. (PMID: 15532026) Tiede S. … Braulke T. (Hum. Mutat. 2004) 4 23
  5. Identification and molecular characterization of six novel mutations in the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTG) gene in patients with mucolipidosis III gamma. (PMID: 19370764) Persichetti E. … Beccari T. (Hum. Mutat. 2009) 3 23

Products for GNPTG Gene

Sources for GNPTG Gene

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