Free for academic non-profit institutions. Other users need a Commercial license

Aliases for GNPTG Gene

Aliases for GNPTG Gene

  • N-Acetylglucosamine-1-Phosphate Transferase Gamma Subunit 2 3 5
  • UDP-N-Acetylglucosamine-1-Phosphotransferase Subunit Gamma 3 4
  • GlcNAc-1-Phosphotransferase Subunit Gamma 3 4
  • C16orf27 3 4
  • GNPTAG 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 Mucolipidosis Iii Alpha/Beta. Among its related pathways are Lysosome. GO annotations related to this gene include protein homodimerization activity and UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity.

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

Enhancers for GNPTG Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16F001296 1.4 Ensembl ENCODE 12 -52.7 -52716 5.3 HDGF PKNOX1 CREB3L1 ARID4B SIN3A YY1 ZNF143 FOS KLF13 ZNF263 ENSG00000261505 ENSG00000260954 JMJD8 ENSG00000226890 BAIAP3 ENSG00000200059 PRSS29P ENSG00000261240 ZNF598 UBE2I
GH16F001271 1.3 Ensembl ENCODE 11.8 -80.1 -80073 1.6 PKNOX1 FEZF1 ZNF2 ZNF302 ZNF416 SP3 REST ZNF592 ZNF610 ZNF585B HN1L ENSG00000261505 ENSG00000260051 ENSG00000260954 JMJD8 RHOT2 SNORA64 ENSG00000255513 LOC105371038 IFT140
GH16F001356 1 ENCODE 14.4 +5.9 5938 2.4 ATF1 ARID4B SIN3A GLIS2 ZNF143 FOS KLF13 KDM4B SP3 SP5 GNPTG CCDC154 HN1L GC16M001363 GC16P001354
GH16F001377 1.1 ENCODE 12.9 +26.9 26942 3.3 HDGF ARNT CREB3L1 ARID4B SIN3A DMAP1 ZNF2 FOS KLF13 ZNF263 IFT140 CCDC154 HN1L ENSG00000279473 GNPTG TSR3 RNPS1 CHTF18 TMEM204 BAIAP3
GH16F001413 1 ENCODE 13.1 +63.4 63446 4.2 ARID4B SIN3A ZNF48 ZNF2 ZNF121 GLIS2 ZNF143 REST PPARG SREBF1 CCDC154 ENSG00000226890 ENSG00000200059 ENSG00000261240 PRSS29P GNPTG LOC105371038 SNORD60 SNHG19 TSR3
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GNPTG on UCSC Golden Path with GeneCards custom track

Promoters for GNPTG Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000502258 301 2001 ATF1 CREB3L1 MLX ARID4B SIN3A ETS1 YY1 ELK1 ZNF207 ZNF143

Genomic Location for GNPTG Gene

Chromosome:
16
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

Genes around GNPTG on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GNPTG Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

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 Asn 88, Asn 115, Thr 286, and Ser 291
  • Modification sites at PhosphoSitePlus

Other Protein References for GNPTG Gene

No data available for DME Specific Peptides for GNPTG Gene

Domains & Families for GNPTG Gene

Gene Families for GNPTG Gene

Protein Domains for GNPTG Gene

Graphical View of Domain Structure for InterPro Entry

Q9UJJ9

UniProtKB/Swiss-Prot:

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

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

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

Human Phenotype Ontology for GNPTG Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GNPTG Gene

MGI Knock Outs for GNPTG:

Animal Model Products

  • Taconic Biosciences Mouse Models for GNPTG

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GNPTG gene
Compartment Confidence
extracellular 5
golgi apparatus 4
lysosome 3
endoplasmic reticulum 2
cytosol 2

Gene Ontology (GO) - Cellular Components for GNPTG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005576 extracellular region IEA --
GO:0005794 Golgi apparatus ISS --
GO:0016020 membrane IEA --
GO:0043231 intracellular membrane-bounded organelle IEA --
genes like me logo Genes that share ontologies with GNPTG: view

Pathways & Interactions for GNPTG Gene

SuperPathways for GNPTG Gene

SuperPathway 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

No data available for SIGNOR curated interactions for GNPTG Gene

Drugs & Compounds for GNPTG Gene

(2) Additional Compounds for GNPTG Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE for GNPTG Gene

Protein differential expression in normal tissues from HIPED for GNPTG Gene

This gene is overexpressed in Serum (38.6) and Amniocyte (14.9).

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



NURSA nuclear receptor signaling pathways regulating expression of GNPTG Gene:

GNPTG

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 expression patterns with GNPTG: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein tissue co-expression partners 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 34 35
  • 99.13 (n)
cow
(Bos Taurus)
Mammalia GNPTG 34 35
  • 84 (n)
dog
(Canis familiaris)
Mammalia GNPTG 34 35
  • 82.61 (n)
mouse
(Mus musculus)
Mammalia Gnptg 34 16 35
  • 81.67 (n)
rat
(Rattus norvegicus)
Mammalia Gnptg 34
  • 81.43 (n)
oppossum
(Monodelphis domestica)
Mammalia GNPTG 35
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GNPTG 35
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves GNPTG 34 35
  • 65.94 (n)
lizard
(Anolis carolinensis)
Reptilia GNPTG 35
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gnptg 34
  • 62.17 (n)
Str.305 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.15434 34
zebrafish
(Danio rerio)
Actinopterygii gnptg 34 35
  • 59.27 (n)
wufc67g11 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10461 34
Species where no ortholog for GNPTG was found in the sources mined by GeneCards:
  • 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

(1) 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
VAR_070816 Mucolipidosis type III complementation group C (MLIIIC) [MIM:252605]
VAR_077164 Mucolipidosis type III complementation group C (MLIIIC) [MIM:252605]
VAR_077165 Mucolipidosis type III complementation group C (MLIIIC) [MIM:252605]
rs137852884 Pathogenic 1,362,053(+) GAGTG(A/G)GAGAT reference, stop-gained, utr-variant-5-prime
rs137852885 Pathogenic 1,361,954(+) TCCTC(A/G)GGTGA reference, missense, utr-variant-5-prime

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

Variant ID Type Subtype PubMed ID
nsv952899 CNV deletion 24416366
nsv827493 CNV gain 20364138
nsv471066 CNV loss 18288195
nsv428316 CNV gain+loss 18775914
nsv1046314 CNV loss 25217958
esv3637617 CNV loss 21293372
esv3637616 CNV gain 21293372
esv2762143 CNV gain 21179565
esv2750333 CNV deletion 23290073
esv2750332 CNV deletion 23290073
esv2750331 CNV deletion 23290073
esv2750330 CNV deletion 23290073
esv2750328 CNV deletion 23290073
esv2750327 CNV deletion 23290073
esv2660383 CNV deletion 23128226
esv2422427 CNV duplication 17116639
dgv473e214 CNV loss 21293372
dgv2692n100 CNV gain 25217958

Variation tolerance for GNPTG Gene

Residual Variation Intolerance Score: 19.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.43; 28.09% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GNPTG Gene

Human Gene Mutation Database (HGMD)
GNPTG
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GNPTG

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

Disorders for GNPTG Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
mucolipidosis iii gamma
  • mucolipidosis iii c
mucolipidosis iii alpha/beta
  • pseudo-hurler polydystrophy
stuttering
  • familial persistent stuttering
mucolipidosis ii alpha/beta
  • inclusion-cell disease
articulation disorder
  • articulation impairment
- elite association - COSMIC cancer census association via MalaCards
Search GNPTG in MalaCards View complete list of genes associated with diseases

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}.

Relevant External Links for GNPTG

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GNPTG
genes like me logo Genes that share disorders with GNPTG: view

No data available for Genatlas for GNPTG Gene

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 22 64
  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 64
  3. Three novel homozygous mutations in the GNPTG gene that cause mucolipidosis type III gamma. (PMID: 24316125) Liu S. … Qiu Z. (Gene 2014) 3 4 64
  4. Functions of the alpha, beta, and gamma subunits of UDP-GlcNAc:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase. (PMID: 19955174) Qian Y. … Kornfeld S. (J. Biol. Chem. 2010) 3 4 64
  5. 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 22 64

Products for GNPTG Gene

Sources for GNPTG Gene

Content
Loading form....