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  3. GALNT3

GALNT3 (Polypeptide N-acetylgalactosaminyltransferase 3)

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Summary of GALNT3

This gene encodes a protein that plays a role in phosphatase homeostasis and bone formation (R). 

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The Function of GALNT3

Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. Has activity toward HIV envelope glycoprotein gp120, EA2, Muc2 and Muc5. Probably glycosylates fibronectin in vivo. Glycosylates FGF23. Plays a central role in phosphate homeostasis.

Protein names

Recommended name:

Polypeptide N-acetylgalactosaminyltransferase 3

Alternative name(s):

Polypeptide GalNAc transferase 3
GalNAc-T3
pp-GaNTase 3
Protein-UDP acetylgalactosaminyltransferase 3
UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 3

GALNT3 SNPs

    To see your genotype, you should be logged in and have a file with your genotype uploaded.

  1. RS1346004 (GALNT3) ??
  2. RS16851009 (GALNT3) ??
  3. RS34462569 (GALNT3) ??
  4. RS6710518 (GALNT3) ??
  5. RS6726821 (GALNT3) ??

Top Gene-Substance Interactions

GALNT3 Interacts with These Diseases

Disease Score

Substances That Increase GALNT3

Substances Interaction Organism Category

Substances That Decrease GALNT3

Substances Interaction Organism Category

Advanced Summary

     hyperphosphatemic familial tumoral calcinosis At least 25 mutations in the GALNT3 gene have been found to cause hyperphosphatemic familial tumoral calcinosis (HFTC), a condition characterized by an increase in the levels of phosphate in the blood (hyperphosphatemia) and abnormal deposits of phosphate and calcium (calcinosis) in the body's tissues. GALNT3 gene mutations result in the production of ppGalNacT3 protein with little or no function. As a result, ppGalNacT3 cannot glycosylate fibroblast growth factor 23. Fibroblast growth factor 23 becomes trapped within the cell and is broken down rather than being released from cells (secreted) as usual. Without fibroblast growth factor 23, more phosphate is reabsorbed back into the bloodstream by the kidneys, leading to hyperphosphatemia. Calcinosis results when the excess phosphate combines with calcium to form deposits that build up in soft tissues.

     The GALNT3 gene provides instructions for making a protein called ppGalNacT3, which is found in many types of cells. This protein plays a major role in regulating phosphate levels within the body (phosphate homeostasis). Among its many functions, phosphate plays a critical role in the formation and growth of bones in childhood and helps maintain bone strength in adults. Phosphate levels are controlled in large part by the kidneys. The kidneys normally rid the body of excess phosphate by excreting it in urine, and they reabsorb this mineral into the bloodstream when more is needed. The ppGalNacT3 protein regulates the activity of a protein called fibroblast growth factor 23, which is produced in bone cells and whose function is to signal the body to decrease phosphate reabsorption by the kidneys. The ppGalNacT3 protein attaches sugar molecules to particular regions of fibroblast growth factor 23 through a process called glycosylation. These sugar molecules are required for the protein's transport out of cells and to protect the protein from being broken down. When phosphate levels are increased, ppGalNacT3 glycosylates fibroblast growth factor 23 so it will not be broken down. Signaling from fibroblast growth factor 23 leads to a decrease in phosphate reabsorption, which helps to maintain normal phosphate levels in the body.

Conditions with Increased Gene Activity

Condition Change (log2fold) Comparison Species Experimental variables Experiment name

Conditions with Decreased Gene Activity

Condition Change (log2fold) Comparison Species Experimental variables Experiment name

Technical

The following transcription factors affect gene expression:

  • NF-1

Tissue specificity:

Expressed in organs that contain secretory epithelial glands. Highly expressed in pancreas, skin, kidney and testis. Weakly expressed in prostate, ovary, intestine and colon. Also expressed in placenta and lung and fetal lung and fetal kidney.

Gene Pathways:

  • Metabolic pathways
  • Metabolism of proteins
  • Mucin type O-Glycan biosynthesis

Molecular Function:

  • Calcium Ion Binding
  • Carbohydrate Binding
  • Manganese Ion Binding
  • Polypeptide N-Acetylgalactosaminyltransferase Activity

Biological Processes:

  • Carbohydrate Metabolic Process
  • Fibroblast Growth Factor Receptor Signaling Pathway
  • O-Glycan Processing
  • Protein O-Linked Glycosylation Via Serine
  • Protein O-Linked Glycosylation Via Threonine
*synonyms

Synonyms/Aliases/Alternative Names of the Gene:

hypothetical protein| HHS| voltage-dependent T-type calcium channel subunit alpha-1I| AS27_06671| AS28_00602| CB1_000846004| D623_10034901| EGK_04492| GalNAc-T3| GalNAc transferase 3| H920_16151| HFTC| I79_013054| M959_07144| MDA_GLEAN10024225| N300_10112| N301_03117| N302_06801| N305_06580| N306_04093| N308_12686| N309_10799| N310_05147| N311_07486| N312_04871| N321_12101| N322_02568| N324_10100| N325_06281| N326_03560| N327_12384| N328_12146| N329_03800| N331_03152| N333_11211| N334_07808| N335_02205| N336_03521| N339_08611| N340_05098| N341_01372| PAL_GLEAN10025918| PANDA_016676| polypeptide GalNAc transferase 3| polypeptide GalNAc-transferase T3| Polypeptide N-acetylgalactosaminyltransferase 3-like protein| pp-GaNTase 3| ppGaNTase-T3| protein-UDP acetylgalactosaminyltransferase 3| UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 3| UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3| UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)| UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6| UY3_04029| Y1Q_031820| Y956_02224| Z169_02812| galnt3

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