gene

GNPTAB

Entity Detail — Knowledge Graph Node

Understanding Entity Pages

This page aggregates everything SciDEX knows about GNPTAB: its mechanistic relationships (Knowledge Graph edges), hypotheses targeting it, analyses mentioning it, and supporting scientific papers. The interactive graph below shows its immediate neighbors. All content is AI-synthesized from peer-reviewed literature.

36Connections

0Hypotheses

0Analyses

22Outgoing

14Incoming

No summary available yet. View on Wiki →

🧬 Gene Info

Gene Symbol	GNPTAB
Full Name	N-Acetylglucosamine-1-Phosphate Transferase Alpha/Beta
Chromosome	12q23.2
Protein Type	Enzyme
Function	The 1,456 amino acid precursor protein undergoes autocatalytic cleavage in the endoplasmic reticulum to generate the active alpha (catalytic) and beta subunits.
Subcellular Localization	the cis-Golgi network. The 1,456 amino acid precursor protein undergoes autocatalytic cleavage in the endoplasmic reticu
Amino Acids	456 aa
Pathways	Alpha-Synuclein, Cholesterol
UniProt ID	Q3YQZ3
NCBI Gene ID	57157
Ensembl ID	ENSG00000164930
OMIM	607840
GeneCards	GNPTAB
Human Protein Atlas	GNPTAB
Autophagy	Lysosomal function is essential for autophagic degradation of damaged organelles and protein aggregates
Associated Diseases	neurodegeneration
Interactions	SMPD1, NPC1, GBA, CTSD, SCARB2, LIPA
KG Connections	36 knowledge graph edges
Databases	GeneCards HPA STRING

🔮 Predicted Structure: GNPTAB — AlphaFold Q3YQZ3 Click to expand

AI-predicted structure from AlphaFold | Powered by Mol*

Wiki Pages (3)

Knowledge base pages for this entity

Canonical Page

Pathway Diagram

graph TD
    GNPTAB["<b>GNPTAB</b>"]
    Neurodegeneration["Neurodegeneration"]
    GNPTAB -->|"activates"| Neurodegeneration
    Als["Als"]
    GNPTAB -->|"activates"| Als
    Aging["Aging"]
    GNPTAB -->|"activates"| Aging
    Parkinson["Parkinson"]
    GNPTAB -->|"activates"| Parkinson
    Lewy_Body["Lewy Body"]
    GNPTAB -->|"activates"| Lewy_Body
    Retinal_Degeneration["Retinal Degeneration"]
    GNPTAB -->|"activates"| Retinal_Degeneration
    ALS["ALS"]
    GNPTAB -->|"activates"| ALS
    SMPD1["SMPD1"]
    GNPTAB -->|"activates"| SMPD1
    NPC1["NPC1"]
    GNPTAB -->|"activates"| NPC1
    GBA["GBA"]
    GNPTAB -->|"activates"| GBA
    CTSD["CTSD"]
    GNPTAB -->|"activates"| CTSD
    AGING["AGING"]
    GNPTAB -->|"activates"| AGING
    Cholesterol["Cholesterol"]
    GNPTAB -->|"activates"| Cholesterol
    ALPHA_SYNUCLEIN["ALPHA-SYNUCLEIN"]
    GNPTAB -->|"activates"| ALPHA_SYNUCLEIN
    Alpha_Synuclein["Alpha-Synuclein"]
    GNPTAB -->|"activates"| Alpha_Synuclein
    SCARB2["SCARB2"]
    SCARB2 -->|"activates"| GNPTAB
    PARKINSON["PARKINSON"]
    PARKINSON -->|"activates"| GNPTAB
    LIPA["LIPA"]
    LIPA -->|"activates"| GNPTAB
    SLC17A5["SLC17A5"]
    SLC17A5 -->|"activates"| GNPTAB
    AGING["AGING"]
    AGING -->|"activates"| GNPTAB
    NEURODEGENERATION["NEURODEGENERATION"]
    NEURODEGENERATION -->|"activates"| GNPTAB
    SMPD1["SMPD1"]
    SMPD1 -->|"activates"| GNPTAB
    NEUROTOXICITY["NEUROTOXICITY"]
    NEUROTOXICITY -->|"activates"| GNPTAB
    GENES["GENES"]
    GENES -->|"activates"| GNPTAB
    NPC1["NPC1"]
    NPC1 -->|"activates"| GNPTAB
    CTSD["CTSD"]
    CTSD -->|"activates"| GNPTAB
    AND["AND"]
    AND -->|"activates"| GNPTAB
    PARKINSON_S_DISEASE["PARKINSON'S DISEASE"]
    PARKINSON_S_DISEASE -->|"activates"| GNPTAB
    GBA["GBA"]
    GBA -->|"activates"| GNPTAB
    neurodegeneration["neurodegeneration"]
    GNPTAB -->|"implicated in"| neurodegeneration

Outgoing (22)

Target	Relation	Type	Str
Alpha-Synuclein Neurotoxicity	modulates	phenotype	0.85
Retinal Degeneration	activates	disease	0.65
Neurodegeneration	activates	disease	0.65
Als	activates	disease	0.65
Aging	activates	disease	0.65
Parkinson	activates	disease	0.65
Lewy Body	activates	disease	0.65
ALS	activates	disease	0.65
SMPD1	activates	gene	0.60
NPC1	activates	gene	0.60
GBA	activates	gene	0.60
CTSD	activates	gene	0.60
SCARB2	activates	gene	0.60
LIPA	activates	gene	0.60
SLC17A5	activates	gene	0.60
Rb	activates	protein	0.60
AGING	activates	gene	0.60
Cholesterol	activates	pathway	0.60
ALPHA-SYNUCLEIN	activates	gene	0.60
Alpha-Synuclein	activates	pathway	0.60
PARKINSON	activates	gene	0.60
Α-Synuclein	activates	protein	0.60

Incoming (14)

Source	Relation	Type	Str
SCARB2	activates	gene	0.60
LIPA	activates	gene	0.60
SLC17A5	activates	gene	0.60
SMPD1	activates	gene	0.60
NPC1	activates	gene	0.60
CTSD	activates	gene	0.60
GBA	activates	gene	0.60
PARKINSON	activates	gene	0.60
AGING	activates	gene	0.60
NEURODEGENERATION	activates	gene	0.60
NEUROTOXICITY	activates	gene	0.60
GENES	activates	gene	0.60
AND	activates	gene	0.60
PARKINSON'S DISEASE	activates	gene	0.60

Targeting Hypotheses (0)

Hypotheses where this entity is a therapeutic target

Hypothesis	Score	Disease	Analysis
No targeting hypotheses

Mentioning Analyses (0)

Scientific analyses that reference this entity

No analyses mention this entity

Related Papers (0)

Scientific publications cited in analyses involving this entity

Title & PMID	Authors	Journal	Year	Citations
No papers found