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BBS1 and BAK1
BBS1
BAK1
Description
Bardet-Biedl syndrome 1
BCL2 antagonist/killer 1
Image
GO Annotations
Cellular Component
Cytoplasm
Centrosome
Cytosol
Cytoskeleton
Plasma Membrane
Cilium
Axoneme
Membrane
Motile Cilium
Centriolar Satellite
BBSome
Cell Projection
Ciliary Membrane
Cytoplasm
Mitochondrion
Mitochondrial Outer Membrane
Endoplasmic Reticulum
Cytosol
Membrane
Mitochondrial Membrane
Pore Complex
Bcl-2 Family Protein Complex
BAK Complex
Molecular Function
Signaling Receptor Binding
Patched Binding
Smoothened Binding
Protein Binding
Phosphoprotein Binding
RNA Polymerase II-specific DNA-binding Transcription Factor Binding
Protein Binding
Channel Activity
Porin Activity
Heat Shock Protein Binding
Identical Protein Binding
Protein Homodimerization Activity
Transmembrane Transporter Binding
Protein-containing Complex Binding
Metal Ion Binding
Protein Heterodimerization Activity
Protein-folding Chaperone Binding
BH Domain Binding
Biological Process
Microtubule Cytoskeleton Organization
Neuron Migration
Retina Homeostasis
Lipid Metabolic Process
Visual Perception
Sensory Perception Of Smell
Intracellular Protein Localization
Photoreceptor Cell Morphogenesis
Fertilization
Protein Transport
Dendrite Development
Ventricular System Development
Striatum Development
Hippocampus Development
Cerebral Cortex Development
Cell Projection Organization
Adult Behavior
Response To Endoplasmic Reticulum Stress
Olfactory Behavior
Hormone Metabolic Process
Golgi To Plasma Membrane Protein Transport
Fat Cell Differentiation
Photoreceptor Cell Maintenance
Brain Morphogenesis
Cartilage Development
Retina Development In Camera-type Eye
Cilium Assembly
Regulation Of Cilium Beat Frequency Involved In Ciliary Motility
Neural Precursor Cell Proliferation
Protein Localization To Cilium
Non-motile Cilium Assembly
Leukocyte Homeostasis
B Cell Homeostasis
B Cell Apoptotic Process
Release Of Cytochrome C From Mitochondria
Blood Vessel Remodeling
Myeloid Cell Homeostasis
B Cell Negative Selection
Apoptotic Process
Mitochondrial Fusion
Negative Regulation Of Cell Population Proliferation
Intrinsic Apoptotic Signaling Pathway In Response To DNA Damage
Response To Xenobiotic Stimulus
Response To Fungus
Response To Mycotoxin
Response To UV-C
Establishment Or Maintenance Of Transmembrane Electrochemical Gradient
Response To Gamma Radiation
Positive Regulation Of Calcium Ion Transport Into Cytosol
Negative Regulation Of Gene Expression
Endocrine Pancreas Development
Animal Organ Regeneration
Positive Regulation Of Protein-containing Complex Assembly
Endoplasmic Reticulum Calcium Ion Homeostasis
Negative Regulation Of Endoplasmic Reticulum Calcium Ion Concentration
Monoatomic Ion Transmembrane Transport
Cellular Response To Unfolded Protein
Cellular Response To UV
Limb Morphogenesis
Response To Hydrogen Peroxide
Regulation Of Apoptotic Process
Positive Regulation Of Apoptotic Process
Fibroblast Apoptotic Process
Response To Ethanol
Positive Regulation Of Proteolysis
Regulation Of Mitochondrial Membrane Permeability
Post-embryonic Camera-type Eye Morphogenesis
Homeostasis Of Number Of Cells
Epithelial Cell Proliferation
Regulation Of Transport
Establishment Of Localization In Cell
Regulation Of Cell Cycle
Regulation Of Mitochondrial Membrane Potential
Vagina Development
Calcium Ion Transport Into Cytosol
Regulation Of Biological Quality
Intrinsic Apoptotic Signaling Pathway In Response To Endoplasmic Reticulum Stress
Thymocyte Apoptotic Process
Cellular Response To Mechanical Stimulus
Positive Regulation Of Release Of Cytochrome C From Mitochondria
Negative Regulation Of Release Of Cytochrome C From Mitochondria
Apoptotic Signaling Pathway
Extrinsic Apoptotic Signaling Pathway In Absence Of Ligand
Intrinsic Apoptotic Signaling Pathway
Negative Regulation Of Mitochondrial Outer Membrane Permeabilization Involved In Apoptotic Signaling Pathway
Positive Regulation Of Mitochondrial Outer Membrane Permeabilization Involved In Apoptotic Signaling Pathway
Apoptotic Process Involved In Blood Vessel Morphogenesis
Regulation Of Intracellular Signal Transduction
Positive Regulation Of IRE1-mediated Unfolded Protein Response
Regulation Of Apoptotic Signaling Pathway
Pathways
BBSome-mediated cargo-targeting to cilium
Activation and oligomerization of BAK protein
Release of apoptotic factors from the mitochondria
Pyroptosis
Drugs
Diseases
Bardet-Biedl syndrome (BBS)
GWAS
Bipolar disorder (
21926972
)
Height (
28552196
)
Autism spectrum disorder or schizophrenia (
28540026
)
B-cell malignancies (chronic lymphocytic leukemia, Hodgkin lymphoma or multiple myeloma) (pleiotropy) (
28112199
)
Body mass index (
26426971
)
Chronic lymphocytic leukemia (
24292274
28165464
23770605
22700719
)
Chronic obstructive pulmonary disease or resting heart rate (pleiotropy) (
30940143
)
Crohn's disease or systemic sclerosis (
32024964
)
Diastolic blood pressure (
27841878
)
Eosinophil count (
32888494
27863252
)
Eosinophil percentage of white cells (
27863252
32888494
)
Hematological parameters (
19820697
)
Lung cancer (
28604730
)
Multiple sclerosis and systolic blood pressure (pleiotropy) (
26920376
)
Neutrophil percentage of granulocytes (
27863252
)
Obesity-related traits (
23251661
)
Platelet count (
29066854
27863252
29403010
32888494
33545615
28031487
20139978
26805783
25705162
24026423
22139419
22423221
23263863
)
Platelet distribution width (
32888494
)
Plateletcrit (
27863252
32888494
)
Schizophrenia (
30285260
)
Spleen volume (
34128465
)
Sum eosinophil basophil counts (
27863252
)
Testicular germ cell tumor (
23666239
23666240
28604732
28604728
19483681
)
Interacting Genes
13 interacting genes:
BHMT
CALCA
DCTN1
EEF1A1
EIF3A
EPAS1
EXOC7
FHOD1
HSCB
KRT18
PARK7
PAX2
TSPAN7
20 interacting genes:
ARHGDIA
BAX
BCL2
BCL2A1
BCL2L1
BCL2L10
BCL2L2
BID
DBN1
ERN1
HERC1
HSD17B4
HSPD1
MCL1
MFN1
NFKBIB
TP53
UBE3A
VDAC1
VDAC2
Entrez ID
582
578
HPRD ID
01950
02744
Ensembl ID
ENSG00000174483
ENSG00000030110
Uniprot IDs
Q8NFJ9
A0A0S2Z391
Q16611
PDB IDs
6XT9
1BXL
2IMS
2IMT
2JBY
2JCN
2LP8
2M5B
2XPX
2YV6
3I1H
3QBR
4D2L
4U2U
4U2V
4UF1
5AJK
5FMI
5FMK
5VWV
5VWW
5VWX
5VWY
5VWZ
5VX0
5VX1
6ODH
6UXM
6UXN
6UXO
6UXP
6UXQ
6UXR
7K02
7LK4
7M5A
7M5B
7OFM
7OFO
8CZF
8CZG
8CZH
8GSV
8IGC
8IVB
8SRX
8SRY
8UKY
8Y1Y
8Y1Z
Enriched GO Terms of Interacting Partners
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Regulation Of Mitochondrial Membrane Potential
Chemical Homeostasis
Homeostatic Process
Cellular Homeostasis
Regulation Of Programmed Cell Death
Regulation Of Aerobic Respiration
Cytoplasm
Positive Regulation Of Glucose Catabolic Process To Lactate Via Pyruvate
Regulation Of Cellular Respiration
Cytosol
Epithelial Cell Proliferation
Extrinsic Apoptotic Signaling Pathway
Positive Regulation Of Intrinsic Apoptotic Signaling Pathway In Response To Osmotic Stress
Regulation Of Release Of Cytochrome C From Mitochondria
Negative Regulation Of Programmed Cell Death
Release Of Cytochrome C From Mitochondria
Mitochondrion Organization
Extrinsic Apoptotic Signaling Pathway In Absence Of Ligand
Regulation Of Autophagy
Positive Regulation Of Release Of Cytochrome C From Mitochondria
Regulation Of Protein Metabolic Process
Intracellular Chemical Homeostasis
Regulation Of Calcium Ion Transport Into Cytosol
Blood Vessel Remodeling
Regulation Of Homocysteine Metabolic Process
'de Novo' L-methionine Biosynthetic Process
Axon
Nucleus Localization
Nuclear Migration
Centriolar Satellite
Microtubule Organizing Center
Negative Regulation Of Reactive Oxygen Species Metabolic Process
Optic Chiasma Development
Positive Regulation Of Optic Nerve Formation
Proline Dipeptidase Activity
Eye Pigmentation
Glyoxal Catabolic Process
L-dopa Decarboxylase Activator Activity
Guanine Deglycation
Protein Deglycase Activity
Glyoxalase (glycolic Acid-forming) Activity
Glycolate Biosynthetic Process
Guanine Deglycation, Methylglyoxal Removal
Guanine Deglycation, Glyoxal Removal
Detoxification Of Mercury Ion
Negative Regulation Of Death-inducing Signaling Complex Assembly
Cellular Response To Glyoxal
Glyoxal Metabolic Process
Positive Regulation Of L-dopa Biosynthetic Process
Tyrosine 3-monooxygenase Activator Activity
Apoptotic Mitochondrial Changes
Release Of Cytochrome C From Mitochondria
Mitochondrion Organization
Mitochondrial Outer Membrane
Extrinsic Apoptotic Signaling Pathway In Absence Of Ligand
Intrinsic Apoptotic Signaling Pathway In Response To DNA Damage
Channel Activity
Bcl-2 Family Protein Complex
Intrinsic Apoptotic Signaling Pathway
Extrinsic Apoptotic Signaling Pathway
Apoptotic Signaling Pathway
Positive Regulation Of Apoptotic Process
Positive Regulation Of Programmed Cell Death
BH3 Domain Binding
Negative Regulation Of Apoptotic Process
Regulation Of Mitochondrial Membrane Permeability
Negative Regulation Of Programmed Cell Death
Regulation Of Membrane Permeability
Pore Complex
Apoptotic Process
Mitochondrial Membrane
Programmed Cell Death
Cell Death
Mitochondrial Membrane Organization
Mitochondrion
Mitochondrial Fusion
Regulation Of Apoptotic Process
Regulation Of Mitochondrial Membrane Permeability Involved In Apoptotic Process
Regulation Of Mitochondrial Membrane Potential
Regulation Of Programmed Cell Death
Positive Regulation Of Mitochondrial Membrane Permeability
Cellular Response To Stress
Positive Regulation Of Membrane Permeability
Cell Population Proliferation
Intrinsic Apoptotic Signaling Pathway In Response To Endoplasmic Reticulum Stress
Regulation Of Intrinsic Apoptotic Signaling Pathway
DNA Damage Response
Negative Regulation Of Autophagy
Intracellular Signal Transduction
Neuron Apoptotic Process
Regulation Of Autophagy
Regulation Of Release Of Cytochrome C From Mitochondria
Transmembrane Transport
Epithelial Cell Apoptotic Process
Ovarian Follicle Development
Mononuclear Cell Proliferation
Leukocyte Apoptotic Process
Response To Gamma Radiation
Leukocyte Proliferation
Positive Regulation Of Mitochondrial Membrane Permeability Involved In Apoptotic Process
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