PDZD11

Gene Name		PDZ domain containing 11
Image		No pdb structure
Gene Ontology Annotations	Cellular Component	Extracellular Region Cytosol Cell-cell Junction Basolateral Plasma Membrane Synapse
	Molecular Function	Protein Binding Protein C-terminus Binding
	Biological Process	Vitamin Metabolic Process Water-soluble Vitamin Metabolic Process Biotin Metabolic Process Exocytosis Neurotransmitter Secretion Asymmetric Protein Localization Pantothenate Metabolic Process Ion Transmembrane Transport Small Molecule Metabolic Process Maintenance Of Epithelial Cell Apical/basal Polarity Transmembrane Transport Protein Localization To Basolateral Plasma Membrane
Pathways		Metabolism of vitamins and cofactors Defective CD320 causes methylmalonic aciduria Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF Defective BTD causes biotidinase deficiency Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC Defective MTR causes methylmalonic aciduria and homocystinuria type cblG SLC-mediated transmembrane transport Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE Ion transport by P-type ATPases Defective AMN causes hereditary megaloblastic anemia 1 Ion channel transport Transport of vitamins, nucleosides, and related molecules Defects in cobalamin (B12) metabolism Defective GIF causes intrinsic factor deficiency Vitamin B5 (pantothenate) metabolism Defective HLCS causes multiple carboxylase deficiency Defective MMAB causes methylmalonic aciduria type cblB Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD Defective MMAA causes methylmalonic aciduria type cblA Defective CUBN causes hereditary megaloblastic anemia 1 Defective MUT causes methylmalonic aciduria mut type Metabolism of water-soluble vitamins and cofactors Defects in biotin (Btn) metabolism Defective TCN2 causes hereditary megaloblastic anemia Biotin transport and metabolism Defects in vitamin and cofactor metabolism
Drugs
Diseases
GWAS
Protein-protein Interactions		4 interactors: ATP2B2 ATP7A PLEKHA5 SIGMAR1
Entrez ID		51248
HPRD ID		06622
Ensembl ID		ENSG00000120509
Uniprot IDs		Q5EBL8
PDB IDs
Enriched GO Terms of Interacting Partners?		Cerebellar Purkinje Cell Differentiation Serotonin Metabolic Process Cerebellar Purkinje Cell Layer Morphogenesis Cerebellar Cortex Formation Cell Differentiation In Hindbrain Cerebellar Purkinje Cell Layer Development Cerebellar Cortex Morphogenesis Cerebellum Morphogenesis Hindbrain Morphogenesis Lactation Cerebellar Cortex Development Regulation Of Oxidoreductase Activity Phenol-containing Compound Metabolic Process Body Fluid Secretion Cerebellum Development Elastin Biosynthetic Process Negative Regulation Of Citrulline Biosynthetic Process Negative Regulation Of Cardiac Muscle Hypertrophy In Response To Stress Negative Regulation Of Arginine Catabolic Process Calcium Ion Import Across Plasma Membrane Plasma Membrane Copper Ion Transport Otolith Mineralization Negative Regulation Of The Force Of Heart Contraction Metencephalon Development Mammary Gland Development Hindbrain Development Calcium Ion Import Into Cell Copper Ion Export Negative Regulation Of Adrenergic Receptor Signaling Pathway Involved In Heart Process Negative Regulation Of Cardiac Muscle Adaptation Elastin Metabolic Process Detoxification Of Copper Ion Negative Regulation Of Adrenergic Receptor Signaling Pathway Central Nervous System Neuron Differentiation Locomotory Behavior Regulation Of Neuron Apoptotic Process Response To Iron(III) Ion Epinephrine Metabolic Process Negative Regulation Of Nitric Oxide Mediated Signal Transduction Epidermis Development Negative Regulation Of Peptidyl-cysteine S-nitrosylation Positive Regulation Of CAMP-dependent Protein Kinase Activity Regulation Of Neuron Death Norepinephrine Biosynthetic Process Negative Regulation Of Metalloenzyme Activity Regulation Of Adrenergic Receptor Signaling Pathway Negative Regulation Of Calcineurin-NFAT Signaling Cascade Ribonucleotide Metabolic Process System Development Purine Nucleotide Metabolic Process
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