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APAF1 and PAH
APAF1
PAH
Description
apoptotic peptidase activating factor 1
phenylalanine hydroxylase
Image
GO Annotations
Cellular Component
Extracellular Region
Nucleus
Cytoplasm
Cytosol
Protein-containing Complex
Secretory Granule Lumen
Apoptosome
Extracellular Exosome
Ficolin-1-rich Granule Lumen
Cytosol
Molecular Function
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
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
Biological 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
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
Pathways
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
Phenylketonuria
Phenylalanine metabolism
Drugs
ATP
Phenylalanine
Sapropterin
Norepinephrine
Quinonoid 7,8-Tetrahydrobiopterin
beta-2-Thienyl-L-alanine
L-erythro-7,8-dihydrobiopterin
D-norleucine
Droxidopa
Diseases
Phenylketonuria (PKU); Hyperphenylalaninemia, BH4-deficient
GWAS
Hip circumference adjusted for BMI (
34021172
)
Hip index (
34021172
)
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
)
Interacting Genes
19 interacting genes:
APIP
AVEN
BCL2L1
BCL2L10
CASP3
CASP4
CASP8
CASP9
CYCS
FAS
FEM1B
HIP1
HSP90AA1
HSPA1A
NLRP1
NUP107
PPP1CA
TOP1
TRIAP1
3 interacting genes:
PCBD1
QDPR
RPS24
Entrez ID
317
5053
HPRD ID
03755
08943
Ensembl ID
ENSG00000120868
ENSG00000171759
Uniprot IDs
O14727
P00439
PDB IDs
1C15
1CWW
1CY5
1Z6T
2P1H
2YGS
3J2T
3JBT
3YGS
4RHW
5JUY
5WVC
5WVE
8XQK
1DMW
1J8T
1J8U
1KW0
1LRM
1MMK
1MMT
1PAH
1TDW
1TG2
2PAH
3PAH
4ANP
4PAH
5FII
5PAH
6HPO
6HYC
6N1K
6PAH
Enriched GO Terms of Interacting Partners
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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
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
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