Human Gene GNPTG (ENST00000204679.9) from GENCODE V44
Description: Homo sapiens N-acetylglucosamine-1-phosphate transferase subunit gamma (GNPTG), mRNA. (from RefSeq NM_032520) RefSeq Summary (NM_032520): 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]. Gencode Transcript: ENST00000204679.9 Gencode Gene: ENSG00000090581.11 Transcript (Including UTRs) Position: hg38 chr16:1,351,931-1,364,113 Size: 12,183 Total Exon Count: 11 Strand: + Coding Region Position: hg38 chr16:1,351,966-1,363,091 Size: 11,126 Coding Exon Count: 11
ID:GNPTG_HUMAN DESCRIPTION: RecName: Full=N-acetylglucosamine-1-phosphotransferase subunit gamma; AltName: Full=GlcNAc-1-phosphotransferase subunit gamma; AltName: Full=UDP-N-acetylglucosamine-1-phosphotransferase subunit gamma; Flags: Precursor; FUNCTION: May recognize the substrate of GlcNAc-1- phosphotransferase but also the lysosomal proteins with mannose-6- phosphate residues. SUBUNIT: Hexamer of two alpha, two beta and two gamma subunit; disulfide-linked. It is believed that the alpha and/or the beta subunit of the enzyme contain the catalytic portion and that the gamma subunit functions in recognition of the lysosomal enzymes. SUBCELLULAR LOCATION: Secreted (By similarity). Golgi apparatus (By similarity). TISSUE SPECIFICITY: Widely expressed. DISEASE: Defects in GNPTG are the cause of mucolipidosis type III complementation group C (MLIIIC) [MIM:252605]; also known as variant pseudo-Hurler polydystrophy. MLIIIC is an 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. SIMILARITY: Contains 1 PRKCSH domain. SEQUENCE CAUTION: Sequence=AAP34456.1; Type=Erroneous initiation;
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9UJJ9
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
