BBS1 and BAK1

Data Source:
BioGRID (biochemical)

		BBS1	BAK1
Description		Bardet-Biedl syndrome 1	BCL2 antagonist/killer 1
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GO Annotations	Cellular Component	Centrosome Cytosol Axoneme BBSome Ciliary Basal Body Ciliary Membrane	Mitochondrion Mitochondrial Outer Membrane Endoplasmic Reticulum Cytosol Integral Component Of Mitochondrial Outer Membrane Pore Complex Bcl-2 Family Protein Complex BAK Complex
	Molecular Function	RNA Polymerase II Repressing Transcription Factor Binding Patched Binding Smoothened Binding Protein Binding	Molecular_function Protein Binding Heat Shock Protein Binding Identical Protein Binding Protein Homodimerization Activity Ion Channel Binding Protein-containing Complex Binding Metal Ion Binding Protein Heterodimerization Activity Chaperone Binding BH Domain Binding
	Biological Process	Visual Perception Sensory Perception Of Smell Golgi To Plasma Membrane Protein Transport Photoreceptor Cell Maintenance Response To Stimulus Cilium Assembly Protein Localization To Cilium Non-motile Cilium Assembly	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 Brain Development Aging Mitochondrial Fusion Cell Population Proliferation Negative Regulation Of Cell Population Proliferation Intrinsic Apoptotic Signaling Pathway In Response To DNA Damage Activation Of Cysteine-type Endopeptidase Activity Involved In Apoptotic Process By Cytochrome C 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 Response To Organic Cyclic Compound Viral Process 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 Negative Regulation Of Peptidyl-serine Phosphorylation Cellular Response To Unfolded Protein Cellular Response To UV Limb Morphogenesis Response To Drug Response To Hydrogen Peroxide 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 Regulation Of Cell Cycle Regulation Of Mitochondrial Membrane Potential Vagina Development 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 Apoptotic Signaling Pathway Extrinsic Apoptotic Signaling Pathway In Absence Of Ligand Activation Of Cysteine-type Endopeptidase Activity Positive Regulation Of Endoplasmic Reticulum Unfolded Protein Response Positive Regulation Of Mitochondrial Outer Membrane Permeabilization Involved In Apoptotic Signaling Pathway Apoptotic Process Involved In Blood Vessel Morphogenesis Positive Regulation Of IRE1-mediated Unfolded Protein Response
Pathways		BBSome-mediated cargo-targeting to cilium	Activation and oligomerization of BAK protein Release of apoptotic factors from the mitochondria
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 ( 28165464 22700719 24292274 23770605) Chronic obstructive pulmonary disease or resting heart rate (pleiotropy) ( 30940143) Crohn's disease or systemic sclerosis ( 32024964) Diastolic blood pressure ( 27841878) Eosinophil counts ( 32888494 27863252) Eosinophil percentage of white cells ( 32888494 27863252) 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 ( 26805783 22139419 24026423 29066854 23263863 29403010 32888494 22423221 25705162 20139978 27863252 28031487) Platelet distribution width ( 32888494) Plateletcrit ( 32888494 27863252) Schizophrenia ( 30285260) Sum eosinophil basophil counts ( 27863252) Testicular germ cell tumor ( 19483681 28604728 28604732 23666239 23666240)
Interacting Genes		13 interacting genes: BHMT CALCA DCTN1 EEF1A1 EIF3A EPAS1 EXOC7 FHOD1 HSCB KRT18 PARK7 PAX2 TSPAN7	19 interacting genes: ARHGDIA BAX BCL2 BCL2A1 BCL2L1 BCL2L10 BCL2L2 BID DBN1 ERN1 HERC1 HSD17B4 HSPD1 MCL1 MFN1 NFKBIB TP53 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
Enriched GO Terms of Interacting Partners?
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