PAH and APAF1

		PAH	APAF1
Description		phenylalanine hydroxylase	apoptotic peptidase activating factor 1
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GO Annotations	Cellular Component	Cytosol	Extracellular Region Nucleus Cytoplasm Cytosol Protein-containing Complex Secretory Granule Lumen Apoptosome Extracellular Exosome Ficolin-1-rich Granule Lumen
	Molecular Function	Catalytic Activity Monooxygenase Activity Phenylalanine 4-monooxygenase Activity Iron Ion Binding Oxidoreductase Activity Oxidoreductase Activity, Acting On Paired Donors, With Incorporation Or Reduction Of Molecular Oxygen, Reduced Pteridine As One Donor, And Incorporation Of One Atom Of Oxygen Metal Ion Binding	Nucleotide Binding Protein Binding ATP Binding Cysteine-type Endopeptidase Activator Activity Involved In Apoptotic Process Heat Shock Protein Binding Identical Protein Binding ADP Binding Cysteine-type Endopeptidase Activator Activity
	Biological Process	L-phenylalanine Catabolic Process Tyrosine Biosynthetic Process Amino Acid Biosynthetic Process Aromatic Amino Acid Metabolic Process Tyrosine Biosynthetic Process, By Oxidation Of Phenylalanine Catecholamine Biosynthetic Process	Response To Hypoxia Kidney Development Neural Tube Closure Apoptotic Process Nervous System Development Brain Development Response To Nutrient Cardiac Muscle Cell Apoptotic Process Cell Differentiation Forebrain Development Regulation Of Apoptotic Process Positive Regulation Of Apoptotic Process System Development Neuron Apoptotic Process Intrinsic Apoptotic Signaling Pathway In Response To Endoplasmic Reticulum Stress Cellular Response To Transforming Growth Factor Beta Stimulus Response To G1 DNA Damage Checkpoint Signaling Apoptotic Signaling Pathway Intrinsic Apoptotic Signaling Pathway Regulation Of Apoptotic DNA Fragmentation Positive Regulation Of Apoptotic Signaling Pathway
Pathways		Phenylketonuria Phenylalanine metabolism	Formation of apoptosome Activation of caspases through apoptosome-mediated cleavage SMAC (DIABLO) binds to IAPs SMAC(DIABLO)-mediated dissociation of IAP:caspase complexes Neutrophil degranulation TP53 Regulates Transcription of Caspase Activators and Caspases Transcriptional Regulation by E2F6 Regulation of the apoptosome activity Regulation of the apoptosome activity
Drugs		Phenylalanine Sapropterin Norepinephrine Quinonoid 7,8-Tetrahydrobiopterin beta-2-Thienyl-L-alanine L-erythro-7,8-dihydrobiopterin D-norleucine Droxidopa	ATP
Diseases		Phenylketonuria (PKU); Hyperphenylalaninemia, BH4-deficient
GWAS		Bisphosphonate-associated atypical femoral fracture ( 31006051) Plasma free amino acid levels ( 30659259) Plasma free amino acid levels (adjusted for one other PFAA) ( 30659259) Plasma free amino acid levels (adjusted for twenty other PFAAs) ( 30659259) Serum metabolite levels ( 31636271) Serum metabolite levels (CMS) ( 31636271)	Hip circumference adjusted for BMI ( 34021172) Hip index ( 34021172)
Interacting Genes		4 interacting genes: APAF1 PCBD1 QDPR RPS24	31 interacting genes: ACADS APIP AVEN BCL2L1 BCL2L10 CASP3 CASP4 CASP8 CASP9 CCL13 CDK17 CYCS DZIP1 ELK3 FAS FEM1B HIP1 HNF1A HSP90AA1 HSPA1A MRPL19 NLRP1 NR1H4 NUDT4 NUP107 PAH PPP1CA RPL26L1 TOP1 TRIAP1 UTP20
Entrez ID		5053	317
HPRD ID		08943	03755
Ensembl ID		ENSG00000171759	ENSG00000120868
Uniprot IDs		P00439	O14727
PDB IDs		1DMW 1J8T 1J8U 1KW0 1LRM 1MMK 1MMT 1PAH 1TDW 1TG2 2PAH 3PAH 4ANP 4PAH 5FII 5PAH 6HPO 6HYC 6N1K 6PAH	1C15 1CWW 1CY5 1Z6T 2P1H 2YGS 3J2T 3JBT 3YGS 4RHW 5JUY 5WVC 5WVE 8XQK
Enriched GO Terms of Interacting Partners?		Tetrahydrobiopterin Metabolic Process Tetrahydrobiopterin Biosynthetic Process Pteridine-containing Compound Biosynthetic Process Diol Metabolic Process Pteridine-containing Compound Metabolic Process Aromatic Amino Acid Metabolic Process Response To G1 DNA Damage Checkpoint Signaling Dihydrobiopterin Metabolic Process 6,7-dihydropteridine Reductase Activity 4-alpha-hydroxytetrahydrobiopterin Dehydratase Activity Tyrosine Biosynthetic Process Phenylalanine 4-monooxygenase Activity Tyrosine Biosynthetic Process, By Oxidation Of Phenylalanine L-amino Acid Metabolic Process Apoptosome NADH Binding Alpha-amino Acid Metabolic Process Amino Acid Metabolic Process Response To DNA Damage Checkpoint Signaling Alcohol Metabolic Process L-phenylalanine Catabolic Process Regulation Of Apoptotic DNA Fragmentation Cysteine-type Endopeptidase Activator Activity Cysteine-type Endopeptidase Activator Activity Involved In Apoptotic Process Erythrocyte Homeostasis Cardiac Muscle Cell Apoptotic Process Striated Muscle Cell Apoptotic Process Tyrosine Metabolic Process Small Molecule Biosynthetic Process NADPH Binding Muscle Cell Apoptotic Process Aromatic Amino Acid Family Catabolic Process Translation Initiation Factor Binding Small Ribosomal Subunit Extracellular Exosome Myeloid Cell Homeostasis Intrinsic Apoptotic Signaling Pathway In Response To Endoplasmic Reticulum Stress ADP Binding Cytosolic Small Ribosomal Subunit Cytosol Carboxylic Acid Metabolic Process Organic Acid Metabolic Process Electron Transfer Activity Cellular Response To Transforming Growth Factor Beta Stimulus Heat Shock Protein Binding Amino Acid Biosynthetic Process	Cell Death Programmed Cell Death Apoptotic Process Regulation Of Apoptotic Process Regulation Of Programmed Cell Death Apoptotic Signaling Pathway Pyroptotic Inflammatory Response Intrinsic Apoptotic Signaling Pathway Response To Anesthetic Death-inducing Signaling Complex Positive Regulation Of Pyroptotic Inflammatory Response Response To Cobalt Ion Mitochondrion Leukocyte Apoptotic Process Neuron Apoptotic Process Positive Regulation Of Apoptotic Process Death Receptor Binding Positive Regulation Of Programmed Cell Death Cysteine-type Endopeptidase Activity Nucleus Positive Regulation Of Neuron Apoptotic Process Regulation Of Tumor Necrosis Factor-mediated Signaling Pathway Apoptosome Response To Radiation Execution Phase Of Apoptosis Positive Regulation Of Defense Response Negative Regulation Of Programmed Cell Death Response To Stress Glial Cell Apoptotic Process Cytosol Inflammatory Response CD95 Death-inducing Signaling Complex NLRP1 Inflammasome Complex Extrinsic Apoptotic Signaling Pathway Regulation Of Apoptotic Signaling Pathway Regulation Of Extrinsic Apoptotic Signaling Pathway In Absence Of Ligand Epithelial Cell Apoptotic Process Regulation Of Neuron Apoptotic Process Cysteine-type Peptidase Activity Negative Regulation Of Apoptotic Process Self Proteolysis Response To UV Fibroblast Apoptotic Process Intracellular Signal Transduction Regulation Of Extrinsic Apoptotic Signaling Pathway Protein Maturation Cellular Response To Radiation Positive Regulation Of Inflammatory Response Response To Light Stimulus Interleukin-18-mediated Signaling Pathway
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