GNPTAB, N-acetylglucosamine-1-phosphate transferase subunits alpha and beta

GNPTAB, N-acetylglucosamine-1-phosphate transferase subunits alpha and beta

• This gene encodes two of three subunit types of the membrane-bound enzyme N-acetylglucosamine-1-phosphotransferase, a heterohexameric complex composed of two alpha, two beta, and two gamma subunits. The encoded protein is proteolytically cleaved at the Lys928-Asp929 bond to yield mature alpha and beta polypeptides while the gamma subunits are the product of a distinct gene (GeneID 84572). In the Golgi apparatus, the heterohexameric complex catalyzes the first step in the synthesis of mannose 6-phosphate recognition markers on certain oligosaccharides of newly synthesized lysosomal enzymes. These recognition markers are essential for appropriate trafficking of lysosomal enzymes. Mutations in this gene have been associated with both mucolipidosis II and mucolipidosis IIIA.[provided by RefSeq, May 2010]

• Gene Synonyms (N-acetylglucosamine-1-phosphotransferase subunits alpha/beta, GlcNAc phosphotransferase, N-acetylglucosamine-1-phosphate transferase alpha and beta subunits, UDP-N-acetylglucosamine-1-phosphotransferase subunits alpha/beta, UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosamine, glcNAc-1-phosphotransferase subunits alpha/beta, glucosamine (UDP-N-acetyl)-lysosomal-enzyme N-acetylglucosamine phosphotransferase, stealth protein GNPTAB, GNPTA, ICD,)
• NCBI Gene ID: 79158
• Species: Homo sapiens (Human)
• UNIPROT ID#>>Q3T906
• View the NCBI Database for this Gene »

Gene products are often involved in multiple pathways and networks within a living cell. Learn more about other interacting partners.

N-acetylglucosamine-1-phosphate transferase subunits alpha and beta interacts with:

• 2-phosphoxylose phosphatase 1
  anaphase promoting complex subunit 2
  N-acetylglucosamine-1-phosphate transferase subunit gamma
  reticulophagy regulator family member 3
  sarcoglycan zeta
  zona pellucida like domain containing 1

Paste a protein or nucleic acid sequence in the box below to confirm that it matches this gene’s reference sequence(s). Click on a link under RELATED ORF CLONES to see how a sequence matches to an experimentally-validated ORF clone.