Any feedback?
Please rate this page
(literature.php)
(0/150)

BRENDA support

Literature summary for 3.1.4.45 extracted from

  • Lee, W.S.; Kang, C.; Drayna, D.; Kornfeld, S.
    Analysis of mannose 6-phosphate uncovering enzyme mutations associated with persistent stuttering (2011), J. Biol. Chem., 286, 39786-39793.
    View publication on PubMedView publication on EuropePMC
Search for more literature for 3.1.4.45

Cloned(Commentary)

Cloned (Comment) Organism
two splice forms, one of these isoforms lacks 102-base pairs corresponding to exon 8 of the 10 exons present in the genomic DNA and is predominantly expressed in brain. Expression of wild-type and mutant enzymes in HeLa cells Homo sapiens

Protein Variants

Protein Variants Comment Organism
F513S naturally occuring Phe513SerfsX113 frameshift mutation that adds 113 amino acids to the C-terminus of the cytoplasmic tail of the protein including a VWLL sequence, causing rapid degradation via the proteasomal system Homo sapiens
H84Q naturally occuring mutation that impairs folding and in addition, decreases the specific activity of the enzyme, to about half the relative specific activity of wild-type enzyme, but folds sufficiently to traffic to the Golgi Homo sapiens
R328C naturally occuring mutation that impairs folding in the endoplasmic reticulum, resulting in degradation of a significant portion by the proteasomal system. The mutation leads to lower cellular UCE activity, and might be involved in persistent stuttering phenomena. The R328C mutant forms oligomers with the wild-type enzyme Homo sapiens

Localization

Localization Comment Organism GeneOntology No. Textmining
Golgi membrane UCE is a type I homotetrameric transmembrane glycoprotein that is mainly localized to the trans-Golgi network. The signal sequence is excised in the endoplasmic reticulum and upon folding, the catalytically inactive protein is transported to the trans-Golgi network where it is activated by furin cleavage of the prosequence Homo sapiens 139
-

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
additional information Homo sapiens D-mannose 6-phosphate phosphodiesters are converted to phosphomonoester ?
-
 ?

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
 gene NAGPA, two splice forms
-

Posttranslational Modification

Posttranslational Modification Comment Organism
glycoprotein
-
 Homo sapiens

Source Tissue

Source Tissue Comment Organism Textmining
brain especially splicing isoform 2 Homo sapiens
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
additional information D-mannose 6-phosphate phosphodiesters are converted to phosphomonoester Homo sapiens ?
-
 ?

Subunits

Subunits Comment Organism
homotetramer
-
 Homo sapiens

Synonyms

Synonyms Comment Organism
GlcNAc-1-phosphodiester-N-acetylglucosaminidase
-
 Homo sapiens
UCE
-
 Homo sapiens
uncovering enzyme
-
 Homo sapiens

General Information

General Information Comment Organism
malfunction fibroblasts of individuals with persistent stuttering have decreased enzyme activity, the stuttering phenotype is presumed to arise from neuron dysfunction, overview Homo sapiens
metabolism the enzyme is a Golgi enzyme that mediates the second step in the synthesis of the D-mannose 6-phosphate lysosomal targeting signal on acid hydrolases Homo sapiens