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. Gene Ontology (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.

Additional gene information for GNPTG Gene

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

Genomics for GNPTG Gene

GeneHancer (GH) Regulatory Elements for GNPTG Gene

Promoters and enhancers for GNPTG Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16I001350 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 550.8 -0.2 -197 2.6 MLX ARNT ARID4B SIN3A YY1 ZNF207 ZNF143 FOS CEBPZ ZHX2 GNPTG TSR3 WDR90 ENSG00000261505 TELO2 CRAMP1 BAIAP3 JMJD8 ENSG00000260954 NUBP2
GH16I001377 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 12.9 +26.9 26942 3.3 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 POLR2B ZNF766 CBX5 UNKL CCDC154 GNPTG TSR3 CHTF18 TMEM204 IFT140 BAIAP3 JPT2 GC16P001373
GH16I001413 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 13.1 +63.4 63446 4.2 ATF1 ARID4B SIN3A ZNF2 ZBTB7B ZNF48 ZNF121 GLIS2 ZNF213 ZNF143 GC16M001479 GC16M001482 GC16P001415 PIR48812 PIR62325 UNKL CCDC154 GNPTG LOC106660606 LMF1
GH16I001677 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 9.9 +327.7 327717 4.3 HDGF PKNOX1 ARID4B NEUROD1 SIN3A ZNF2 ZBTB7B YY1 ZNF207 ZNF143 JPT2 GC16M001677 PIR31117 TELO2 TBL3 CRAMP1 ENSG00000260051 CLCN7 ERVK13-1 TSC2
GH16I001342 Promoter/Enhancer 1.6 Ensembl ENCODE dbSUPER 12.5 -8.9 -8919 1.5 HDGF PKNOX1 ATF1 ARID4B SIN3A ZNF2 ZBTB7B YY1 GLIS2 ZNF143 GC16M001350 LOC102724014 TBL3 BAIAP3 WDR90 GNPTG CRAMP1 ENSG00000261207 WDR24 ENSG00000260051
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around GNPTG on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GNPTG gene promoter:

Genomic Locations for GNPTG Gene

Genomic Locations for GNPTG Gene
chr16:1,351,899-1,364,113
(GRCh38/hg38)
Size:
12,215 bases
Orientation:
Plus strand
chr16:1,401,900-1,413,352
(GRCh37/hg19)

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 isoforms=88, posLast=115115, isoforms=286, and posLast=291291

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

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted secreted proteins

Protein Domains for GNPTG Gene

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot 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

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

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Endoplasmic reticulum (2)
See all subcellular structures

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) Drugs for GNPTG Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
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:

CRISPR Products

Inhibitory RNA 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 CGAP 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.

Evidence on tissue expression from TISSUES for GNPTG Gene

  • Nervous system(4.8)
  • Kidney(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GNPTG Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • lymphatic
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • face
  • head
  • inner ear
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
Thorax:
  • aorta
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • liver
  • spleen
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with GNPTG: view

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia GNPTG 33 34
  • 99.13 (n)
cow
(Bos Taurus)
Mammalia GNPTG 33 34
  • 84 (n)
dog
(Canis familiaris)
Mammalia GNPTG 33 34
  • 82.61 (n)
mouse
(Mus musculus)
Mammalia Gnptg 33 16 34
  • 81.67 (n)
rat
(Rattus norvegicus)
Mammalia Gnptg 33
  • 81.43 (n)
oppossum
(Monodelphis domestica)
Mammalia GNPTG 34
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GNPTG 34
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves GNPTG 33 34
  • 65.94 (n)
lizard
(Anolis carolinensis)
Reptilia GNPTG 34
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gnptg 33
  • 62.17 (n)
Str.305 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.15434 33
zebrafish
(Danio rerio)
Actinopterygii gnptg 33 34
  • 59.27 (n)
wufc67g11 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10461 33
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 Variation AA Info Type
rs1016193943 uncertain-significance, Mucolipidosis, Type III Gamma 1,351,924(+) G/C 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant
rs1041664887 uncertain-significance, Mucolipidosis, Type III Gamma 1,351,906(+) C/T 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant
rs1060499690 likely-pathogenic, Mucolipidosis III Gamma 1,362,044(+) G/A 5_prime_UTR_variant, coding_sequence_variant, stop_gained
rs1060499691 likely-pathogenic, Mucolipidosis III Gamma 1,361,802(+) G/A intron_variant
rs137852884 pathogenic, Mucolipidosis III Gamma 1,362,053(+) G/A 5_prime_UTR_variant, coding_sequence_variant, stop_gained

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

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

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)

Additional Variant Information 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

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

Disorder Aliases PubMed IDs
mucolipidosis iii gamma
  • ml iii gamma
mucolipidosis iii alpha/beta
  • ml iii alpha/beta
articulation disorder
  • articulation impairment
stuttering
  • familial persistent stuttering
mucolipidosis ii alpha/beta
  • mucolipidosis ii; ml ii
- 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:15060128, ECO:0000269 PubMed:15532026, ECO:0000269 PubMed:19370764, ECO:0000269 PubMed:24316125, ECO:0000269 PubMed:26108976, ECO:0000269 PubMed:27038293}. 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}.

Additional Disease Information for 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 (The New England journal of medicine 2010) 3 4 22 58
  2. 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 (Human mutation 2009) 3 4 22 58
  3. Molecular basis of variant pseudo-hurler polydystrophy (mucolipidosis IIIC) (PMID: 10712439) Raas-Rothschild A … Canfield WM (The Journal of clinical investigation 2000) 2 3 4 58
  4. Mucolipidosis III GNPTG Missense Mutations Cause Misfolding of the γ Subunit of GlcNAc-1-Phosphotransferase. (PMID: 27038293) van Meel E … Kornfeld S (Human mutation 2016) 3 4 58
  5. Three novel homozygous mutations in the GNPTG gene that cause mucolipidosis type III gamma. (PMID: 24316125) Liu S … Qiu Z (Gene 2014) 3 4 58

Products for GNPTG Gene

Sources for GNPTG Gene

Content
Loading form....