BBS7 and MAD2L1

		BBS7	MAD2L1
Description		Bardet-Biedl syndrome 7	mitotic arrest deficient 2 like 1
Image		No pdb structure
GO Annotations	Cellular Component	Photoreceptor Outer Segment Nucleus Centrosome Cytosol Axoneme Membrane BBSome Ciliary Basal Body Neuron Projection Ciliary Membrane	Kinetochore Spindle Pole Nucleus Nucleoplasm Cytoplasm Cytosol Nuclear Pore Nuclear Basket Perinuclear Region Of Cytoplasm Mitotic Spindle
	Molecular Function	Protein Binding RNA Polymerase II-specific DNA-binding Transcription Factor Binding	Protein Binding Protein C-terminus Binding Identical Protein Binding Protein Homodimerization Activity
	Biological Process	Eye Development Heart Looping Regulation Of Transcription By RNA Polymerase II Smoothened Signaling Pathway Determination Of Left/right Symmetry Brain Development Visual Perception Protein Localization Protein Transport Melanosome Transport Positive Regulation Of Proteasomal Ubiquitin-dependent Protein Catabolic Process Fat Cell Differentiation Intracellular Transport Digestive Tract Morphogenesis Pigment Granule Aggregation In Cell Center Limb Development Cilium Assembly Primary Palate Development Non-motile Cilium Assembly	Establishment Of Mitotic Spindle Orientation Mitotic Spindle Assembly Checkpoint Signaling Negative Regulation Of Protein Catabolic Process Negative Regulation Of Apoptotic Process Negative Regulation Of Mitotic Cell Cycle Cell Division Establishment Of Centrosome Localization Positive Regulation Of Mitotic Cell Cycle Spindle Assembly Checkpoint Negative Regulation Of Ubiquitin Protein Ligase Activity
Pathways		BBSome-mediated cargo-targeting to cilium	Inhibition of the proteolytic activity of APC/C required for the onset of anaphase by mitotic spindle checkpoint components Inactivation of APC/C via direct inhibition of the APC/C complex Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal Cdc20:Phospho-APC/C mediated degradation of Cyclin A APC/C:Cdc20 mediated degradation of mitotic proteins APC-Cdc20 mediated degradation of Nek2A Separation of Sister Chromatids Resolution of Sister Chromatid Cohesion RHO GTPases Activate Formins Mitotic Prometaphase EML4 and NUDC in mitotic spindle formation
Drugs
Diseases
GWAS		Asthma ( 31959851) Hip circumference adjusted for BMI ( 34021172) Psoriasis ( 31376382)	Coronary artery disease ( 32469254 28714974 33020668) Coronary artery disease (myocardial infarction, percutaneous transluminal coronary angioplasty, coronary artery bypass grafting, angina or chromic ischemic heart disease) ( 28714975) F-cell distribution in sickle cell anaemia ( 21326311) HIV-1 viral setpoint ( 22174851) Loneliness (multivariate analysis) ( 27629369) Myocardial infarction ( 33532862) Refractive error ( 32231278)
Interacting Genes		12 interacting genes: ANXA5 CNGA1 FHOD1 JUN KRT18 MAD2L1 MSH6 NDNF PAX2 PDE8B QRFPR TRPC3	27 interacting genes: ADAM17 ANAPC2 ANAPC4 APP BBS7 CCNA2 CDC16 CDC20 CDC27 CSF2RB DEPDC5 EPM2AIP1 ESR2 H3C1 INSR KEAP1 MAD1L1 MAD2L1BP MAD2L2 MBL2 NDC80 RABAC1 REV3L SDCBP TRIP13 TSC22D4 UBD
Entrez ID		55212	4085
HPRD ID		07399	03274
Ensembl ID		ENSG00000138686	ENSG00000164109
Uniprot IDs		Q8IWZ6	Q13257
PDB IDs			1DUJ 1GO4 1KLQ 1S2H 2QYF 2V64 2VFX 3GMH 5KHU 5LCW 6F0X 6TLJ
Enriched GO Terms of Interacting Partners?
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