Protein-coding gene in the species Homo sapiens
GNPTG |
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Identifiers |
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Aliases | GNPTG, C16orf27, GNPTAG, LP2537, RJD9, N-acetylglucosamine-1-phosphate transferase gamma subunit, N-acetylglucosamine-1-phosphate transferase subunit gamma |
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External IDs | OMIM: 607838; MGI: 2147006; HomoloGene: 13047; GeneCards: GNPTG; OMA:GNPTG - orthologs |
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Gene location (Human) |
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| Chr. | Chromosome 16 (human)[1] |
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| Band | 16p13.3 | Start | 1,351,931 bp[1] |
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End | 1,365,737 bp[1] |
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Gene location (Mouse) |
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| Chr. | Chromosome 17 (mouse)[2] |
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| Band | 17|17 A3.3 | Start | 25,452,305 bp[2] |
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End | 25,459,098 bp[2] |
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RNA expression pattern |
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Bgee | Human | Mouse (ortholog) |
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Top expressed in | - right adrenal cortex
- left adrenal gland
- left adrenal cortex
- C1 segment
- Brodmann area 9
- cingulate gyrus
- anterior cingulate cortex
- prefrontal cortex
- amygdala
- hypothalamus
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| Top expressed in | - right kidney
- neural layer of retina
- superior frontal gyrus
- primary visual cortex
- parotid gland
- cerebellar cortex
- dentate gyrus of hippocampal formation granule cell
- yolk sac
- neural tube
- lateral septal nucleus
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| More reference expression data |
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BioGPS | |
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Gene ontology |
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Molecular function | - UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity
- protein homodimerization activity
| Cellular component | - extracellular region
- Golgi membrane
- Golgi apparatus
- extracellular exosome
- membrane
- intracellular membrane-bounded organelle
| Biological process | - N-glycan processing to lysosome
- carbohydrate phosphorylation
| Sources:Amigo / QuickGO |
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Orthologs |
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Species | Human | Mouse |
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Entrez | | |
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Ensembl | | |
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UniProt | | |
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RefSeq (mRNA) | | |
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RefSeq (protein) | | |
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Location (UCSC) | Chr 16: 1.35 – 1.37 Mb | Chr 17: 25.45 – 25.46 Mb |
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PubMed search | [3] | [4] |
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Wikidata |
View/Edit Human | View/Edit Mouse |
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GNPTG (“N-acetylglucosamine-1-phosphate transferase, gamma subunit.”) is a gene in the human body. It is one of three genes that were found to correlate with stuttering.
Function
The GNPTG gene codes instructions for making the gamma subunit of an enzyme called GlcNAc-1-phosphotransferase (also called N-acetylglucosamine-1-phosphate transferase). This enzyme is made up of two alpha (α), two beta (β), and two gamma (γ) subunits. GNPTAB produces the alpha and beta subunits. GlcNAc-1-phosphotransferase functions to prepare newly made enzymes for lysosome transportation (lysosomal hydrolases to the lysosome). Lysosomes, a part of an animal cells, helps break down large molecules into smaller ones that can be reused. GlcNAc-1-phosphotransferase catalyzes the N-linked glycosylation of asparagine residues with a molecule called mannose-6-phosphate (M6P). M6P acts as indicator whether a hydrolase should be transported to the lysosome or not. Once a hydrolase has the indication from an M6P, it can be transported to a lysosome.
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000090581 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000035521 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.