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Aliases for GNPTG Gene

Aliases for GNPTG Gene

  • N-Acetylglucosamine-1-Phosphate Transferase Gamma Subunit 2 3
  • N-Acetylglucosamine-1-Phosphate Transferase, Gamma Subunit 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
  • 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 pseudo-hurler polydystrophy. 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around GNPTG on UCSC Golden Path with GeneCards custom track

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

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 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.

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

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for GNPTG Gene COMPARTMENTS Subcellular localization image for GNPTG gene
Compartment Confidence
extracellular 5
golgi apparatus 4
cytosol 2
endoplasmic reticulum 2
lysosome 2
vacuole 2

Gene Ontology (GO) - Cellular Components for GNPTG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
genes like me logo Genes that share ontologies with GNPTG: view

Pathways & Interactions 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

None

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:

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

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, 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 expression patterns with GNPTG: view

Primer Products

In Situ Assay Products

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
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
chimpanzee
(Pan troglodytes)
Mammalia GNPTG 35
  • 99.13 (n)
  • 98.69 (a)
GNPTG 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gnptg 35
  • 81.43 (n)
  • 80 (a)
oppossum
(Monodelphis domestica)
Mammalia GNPTG 36
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GNPTG 36
  • 61 (a)
OneToOne
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
tropical clawed frog
(Silurana tropicalis)
Amphibia gnptg 35
  • 62.17 (n)
  • 63.5 (a)
Str.305 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.15434 35
zebrafish
(Danio rerio)
Actinopterygii gnptg 35
  • 59.27 (n)
  • 59.27 (a)
wufc67g11 35
gnptg 36
  • 51 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10461 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

(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)
VAR_073223 -
VAR_073224 -
rs9924164 -- 1,360,837(+) ACCTC(C/T)GTCTG intron-variant
rs9926432 -- 1,361,804(+) TGAGT(G/T)CAGGG 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

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

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

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

Disorder Aliases PubMed IDs
mucolipidosis iii gamma
  • pseudo-hurler polydystrophy
pseudo-hurler polydystrophy
  • mucolipidosis iii
stuttering
  • familial persistent stuttering
articulation disorder
  • articulation impairment
mucolipidosis iii alpha/beta
  • pseudo-hurler polydystrophy
- 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. Molecular basis of variant pseudo-Hurler polydystrophy (mucolipidosis IIIC). (PMID: 10712439) Raas-Rothschild A. … Canfield W.M. (J. Clin. Invest. 2000) 2 3 4 67
  2. 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
  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 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
  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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