PMM1

Gene Name		phosphomannomutase 1
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Gene Ontology Annotations	Cellular Component	Cytosol Neuronal Cell Body
	Molecular Function	Phosphomannomutase Activity Metal Ion Binding
	Biological Process	Mannose Metabolic Process Dolichol-linked Oligosaccharide Biosynthetic Process GDP-mannose Biosynthetic Process Protein N-linked Glycosylation Via Asparagine Mannose Biosynthetic Process Post-translational Protein Modification Cellular Protein Metabolic Process
Pathways		Diseases of glycosylation Defective ALG14 causes congenital myasthenic syndrome (ALG14-CMS) Defective MGAT2 causes MGAT2-CDG (CDG-2a) Defective ALG1 causes ALG1-CDG (CDG-1k) Defective MOGS causes MOGS-CDG (CDG-2b) Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein Defective ALG9 causes ALG9-CDG (CDG-1l) Defective MAN1B1 causes MRT15 Defective ALG11 causes ALG11-CDG (CDG-1p) Defective ALG2 causes ALG2-CDG (CDG-1i) Defective ALG3 causes ALG3-CDG (CDG-1d) Post-translational protein modification Defective DPAGT1 causes DPAGT1-CDG (CDG-1j) and CMSTA2 Synthesis of substrates in N-glycan biosythesis Defective B4GALT1 causes B4GALT1-CDG (CDG-2d) Synthesis of GDP-mannose Defective ALG6 causes ALG6-CDG (CDG-1c) Defective RFT1 causes RFT1-CDG (CDG-1n) Asparagine N-linked glycosylation Defective ALG8 causes ALG8-CDG (CDG-1h) Defective MPDU1 causes MPDU1-CDG (CDG-1f) Defective ALG12 causes ALG12-CDG (CDG-1g) Diseases associated with N-glycosylation of proteins
Drugs
Diseases
GWAS
Protein-protein Interactions		3 interactors: CACNA1A RAB6A RCHY1
Entrez ID		5372
HPRD ID		03473
Ensembl ID		ENSG00000100417
Uniprot IDs		Q92871
PDB IDs		2FUC 2FUE
Enriched GO Terms of Interacting Partners?		Cerebellar Molecular Layer Development Vestibular Nucleus Development Peptidyl-cysteine Methylation Musculoskeletal Movement, Spinal Reflex Action Minus-end-directed Organelle Transport Along Microtubule Cerebellum Maturation Gamma-aminobutyric Acid Secretion Regulation Of Acetylcholine Secretion, Neurotransmission Rhythmic Synaptic Transmission Calcium Ion-dependent Exocytosis Of Neurotransmitter Cellular Chloride Ion Homeostasis Gamma-aminobutyric Acid Transport Chloride Ion Homeostasis Early Endosome To Golgi Transport Negative Regulation Of Hormone Biosynthetic Process Pons Development Cerebellar Purkinje Cell Differentiation Cerebellar Purkinje Cell Layer Morphogenesis Reflex Behavioral Response To Pain Protein Targeting To Golgi Establishment Of Protein Localization To Golgi Retrograde Transport, Vesicle Recycling Within Golgi Neuromuscular Synaptic Transmission Regulation Of Hormone Biosynthetic Process Cerebellar Cortex Formation Neurotransmitter Metabolic Process Gamma-aminobutyric Acid Signaling Pathway Cell Differentiation In Hindbrain Calcium Ion Import Regulation Of Hormone Metabolic Process Cerebellar Purkinje Cell Layer Development Membrane Depolarization During Action Potential Retrograde Vesicle-mediated Transport, Golgi To ER Response To Pain Protein Localization To Golgi Apparatus Cerebellar Cortex Morphogenesis Synaptic Transmission, Glutamatergic Protein Autoubiquitination Sulfur Amino Acid Metabolic Process Musculoskeletal Movement Calcium Ion-dependent Exocytosis Anion Homeostasis Spinal Cord Motor Neuron Differentiation Adult Walking Behavior Cerebellum Morphogenesis Receptor Clustering Neural Nucleus Development Hindbrain Morphogenesis Organelle Transport Along Microtubule
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