N-Acetylglucosamine-1-Phosphate Transferase, alpha and beta Subunits Protéines (GNPTAB)

GNPTAB 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. De plus, nous expédions GNPTAB Anticorps (36) et et beaucoup plus de produits pour cette protéine.

afficher tous les protéines Gène GeneID UniProt
GNPTAB 79158 Q3T906
GNPTAB 432486 Q69ZN6
Rat GNPTAB GNPTAB 362865  
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Catalogue No. Origin Source Conjugué Images Quantité Fournisseur Livraison Prix Détails
Cellules d'insectes Souris rho-1D4 tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 0.25 mg Connectez-vous pour afficher 50 to 55 Days
$5,262.31
Détails
Cellules d'insectes Humain rho-1D4 tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 0.5 mg Connectez-vous pour afficher 50 to 55 Days
$7,493.38
Détails

GNPTAB Protéines protéines par origine et source

Origin Exprimée danse Conjugué
Human

Mouse (Murine)

Plus protéines pour N-Acetylglucosamine-1-Phosphate Transferase, alpha and beta Subunits (GNPTAB) partenaires d'interaction

Zebrafish N-Acetylglucosamine-1-Phosphate Transferase, alpha and beta Subunits (GNPTAB) interaction partners

  1. The DMAP interaction domain of the alpha subunit functions in the selective recognition of acid hydrolase substrates and provides an explanation for the impaired phosphorylation of acid hydrolases in a patient with mucolipidosis II.

Human N-Acetylglucosamine-1-Phosphate Transferase, alpha and beta Subunits (GNPTAB) interaction partners

  1. Study identifies GNPTAB as a host factor for Ebola virus (EBOV) infection. This requirement is confirmed in primary cells from mucolipidosis II and mucolipidosis III patients with defective GNPTAB variants. An inhibitor of the SKI-1/S1P protease required for GNPTAB activity blocks EBOV infection, suggesting that targeting GNPTAB may be a strategy for a host-targeted antiviral therapy for EBOV.

  2. The diagnosis of Mucolipidosis II is often missed, as it may present with rickets-like picture. In this article, we describe two neonatal mucolipidosis II patients mimicking rickets, and we evaluated them by clinical, metabolic and imaging findings via literature and also emphasized the difficulties in diagnosis of this rare disease.

  3. 14 variations were found in GNPTAB, GNPTG and NAGPA genes.

  4. GNPTAB missense mutations cause loss of GlcNAc-1-phosphotransferase activity in mucolipidosis type II

  5. GNPTAB mutations are associated with mucolipidosis II.

  6. Mutations of the GNPTAB gene is associated with mucolipidosis type III.

  7. we described five individuals from a large consanguineous Turkish family with MLIIIalpha/beta and identified a novel homozygous missense genetic variant in the alpha subunit of GNPTAB gene in five patients

  8. Persistent stuttering is associated with mutations in GNPTAB that are generally not found in mucolipidosis .

  9. These findings serve to explain how GlcNAc-1-phosphotransferase recognizes a large number of proteins that lack a common structural motif.

  10. GlcNAc-1-phosphotransferase gamma-subunits bind to glycosylated region in the no-similarity domain 2 of alpha-subunit, which is independent on cysteine 70 identified to be responsible for alpha-subunit homodimerization.

  11. SNPs covering GNPTAB, GNPTG and NAGPA were subjected to genotyping, association analysis was performed on all SNPs. Significant association of rs17031962 in GNPTAB and rs882294 in NAGPA with developmental dyslexia in a Chinese population was identified after false discovery rate correction for multiple comparisons.

  12. A novel intermediate mucolipidosis II/IIIalphabeta caused by GNPTAB mutation in the cytosolic N-terminal domain.

  13. novel mouse model of MLII homozygous for a patient mutation in the GNPTAB gene.

  14. both missense and frameshift mutations are associated with a severe clinical phenotype causing retention of the protein in the endoplasmic reticulum and failure to cleave the alpha/beta-subunit precursor protein are associated with a severe clinical phenotype

  15. Missense mutations impair retention of the catalytically active enzyme in the Golgi complex resulting in mistargeting of the mutant phosphotransferases to lysosomes, where they are degraded, or to the cell surface and release into the medium.

  16. study located two homozygous nonsense mutations in the GNPTAB gene, c.1071G>A (p.W357X) and c.1090C>T (p.R364X) in two patients with mucolipidosis II alpha/beta

  17. The DMAP interaction domain of the alpha subunit functions in the selective recognition of acid hydrolase substrates and provides an explanation for the impaired phosphorylation of acid hydrolases in a patient with mucolipidosis II.

  18. The mutation c.2808A>G creates a new splice site in exon 14 of GNPATB gene.

  19. data suggest that the oligomeric type III membrane protein PT complex requires a combinatorial sorting motif that forms a tertiary epitope to be recognized by distinct sites within the coat protein complex II machinery

  20. To date mutations in GNPTAB, GNPTG, and NAGPA have been associated with stuttering. These genes encode the lysosomal enzyme targeting pathway, defective in mucolipidosis. (Review)

Mouse (Murine) N-Acetylglucosamine-1-Phosphate Transferase, alpha and beta Subunits (GNPTAB) interaction partners

  1. novel mouse model of MLII homozygous for a patient mutation in the GNPTAB gene.

  2. The DMAP interaction domain of the alpha subunit functions in the selective recognition of acid hydrolase substrates and provides an explanation for the impaired phosphorylation of acid hydrolases in a patient with mucolipidosis II.

  3. Retinal degeneration with storage disease phenotype in most exocrine glands in Gnptab null mice

  4. Vacuolization of mucolipidosis type II mouse exocrine gland cells (GlcNAc-1-phosphotransferase-deficient mice) represents accumulation of autolysosomes.

Profil protéine GNPTAB

Profil protéine

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.

Gene names and symbols associated with GNPTAB

  • N-acetylglucosamine-1-phosphate transferase alpha and beta subunits (GNPTAB)
  • N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits (gnptab)
  • N-acetylglucosamine-1-phosphotransferase subunits alpha/beta (LOC100175423)
  • N-acetylglucosamine-1-phosphate transferase alpha and beta subunits (gnptab)
  • N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits (Gnptab)
  • EG432486 Protéine
  • GNPTA Protéine
  • ICD Protéine
  • mKIAA1208 Protéine
  • RGD1564821 Protéine
  • si:ch211-234f20.3 Protéine
  • wu:fd55d09 Protéine
  • zgc:122985 Protéine
  • zgc:158502 Protéine

Protein level used designations for GNPTAB

N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits , N-acetylglucosamine-1-phosphotransferase subunits alpha/beta , stealth protein gnptab , glcNAc-1-phosphotransferase subunits alpha/beta , UDP-N-acetylglucosamine-1-phosphotransferase subunits alpha/beta , N-acetylglucosamine-1-phosphotransferase subunits alpha/beta-like , n-acetylglucosamine-1-phosphotransferase subunits alpha/beta-like , GlcNAc phosphotransferase , UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosamine , glucosamine (UDP-N-acetyl)-lysosomal-enzyme N-acetylglucosamine phosphotransferase , stealth protein GNPTAB

GENE ID SPECIES
418096 Gallus gallus
452176 Pan troglodytes
553365 Danio rerio
697307 Macaca mulatta
100021000 Monodelphis domestica
100036684 Xenopus (Silurana) tropicalis
100067011 Equus caballus
100175423 Ciona intestinalis
100340567 Oryctolagus cuniculus
100394765 Callithrix jacchus
100483884 Ailuropoda melanoleuca
100546740 Meleagris gallopavo
100561961 Anolis carolinensis
100606002 Nomascus leucogenys
79158 Homo sapiens
432486 Mus musculus
475443 Canis lupus familiaris
100523554 Sus scrofa
509610 Bos taurus
362865 Rattus norvegicus
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