GNPTAB

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]

Description

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

Tissue specificity

Low tissue specificity

Subcell location

Golgi apparatus

Predicted location

Intracellular, Membrane

Protein family

Cancer-related genes
Disease related genes
Enzymes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Potential drug targets
Predicted intracellular proteins
Predicted membrane proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

12 (101745499 - 101830959)

Ensembl ID

ENSG00000111670  (ver. 103.38)

Orthologs

Mouse Gnptab: ENSMUSG00000035311

UniProt

Q3T906

neXtProt

NX_Q3T906

Human splice variants
Mouse splice variants

Protein structure