BBS7 and MSH6

		BBS7	MSH6
Description		Bardet-Biedl syndrome 7	mutS homolog 6
Image		No pdb structure
GO Annotations	Cellular Component	Photoreceptor Outer Segment Nucleus Cytoplasm Centrosome Cytosol Cytoskeleton Plasma Membrane Cilium Axoneme Membrane Centriolar Satellite BBSome Ciliary Basal Body Cell Projection Neuron Projection Ciliary Membrane	Chromatin Nucleus Nucleoplasm Chromosome Golgi Apparatus Cytosol MutSalpha Complex
	Molecular Function	Protein Binding RNA Polymerase II-specific DNA-binding Transcription Factor Binding	Nucleotide Binding Magnesium Ion Binding Four-way Junction DNA Binding DNA Binding Chromatin Binding Damaged DNA Binding Double-stranded DNA Binding Protein Binding ATP Binding ATP-dependent Activity, Acting On DNA Enzyme Binding Mismatched DNA Binding Guanine/thymine Mispair Binding Single Guanine Insertion Binding Single Thymine Insertion Binding Oxidized Purine DNA Binding MutLalpha Complex Binding Protein Homodimerization Activity ADP Binding Histone H3K36me3 Reader Activity ATP-dependent DNA Damage Sensor Activity
	Biological Process	Eye Development Heart Looping Regulation Of Transcription By RNA Polymerase II Smoothened Signaling Pathway Determination Of Left/right Symmetry Brain Development Heart Development Visual Perception Intracellular Protein Localization Protein Transport Cell Projection Organization 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	Meiotic Mismatch Repair DNA Repair Mismatch Repair Chromatin Organization DNA Damage Response Spermatogenesis Determination Of Adult Lifespan Intrinsic Apoptotic Signaling Pathway In Response To DNA Damage Response To UV Somatic Hypermutation Of Immunoglobulin Genes Somatic Recombination Of Immunoglobulin Gene Segments Maintenance Of DNA Repeat Elements Isotype Switching Negative Regulation Of DNA Recombination Intrinsic Apoptotic Signaling Pathway
Pathways		BBSome-mediated cargo-targeting to cilium	Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha) Defective Mismatch Repair Associated With MSH2 Defective Mismatch Repair Associated With MSH6
Drugs
Diseases		Bardet-Biedl syndrome (BBS)	Mismatch repair deficiency, including: Hereditary non-polyposis colorectal cancer (HNPCC); Lynch syndrome; Muir-Torre syndrome; Turcot syndrome Colorectal cancer
GWAS		Asthma ( 31959851) Hip circumference adjusted for BMI ( 34021172) Psoriasis ( 31376382)	General risk tolerance (MTAG) ( 30643258) Heel bone mineral density ( 30598549) Lifetime average cigarettes per day in chronic obstructive pulmonary disease ( 21685187) Menopause (age at onset) ( 26414677) Takayasu arteritis ( 25604533) Tea consumption ( 31046077)
Interacting Genes		4 interacting genes: FHOD1 JUN KRT18 PAX2	20 interacting genes: BARD1 BRCA1 CEBPA CHAF1A CREBBP CSNK2A1 EP300 HRAS HUS1 MAP2K1 MSH2 MUTYH NANS PCNA PTEN RAD1 RAD9A SMC1A SUMO2 WEE2-AS1
Entrez ID		55212	2956
HPRD ID		07399	07202
Ensembl ID		ENSG00000138686	ENSG00000116062
Uniprot IDs		Q8IWZ6	A0A494C0M1 A0A8V8TPJ4 P52701 Q3SWU9
PDB IDs			2GFU 2O8B 2O8C 2O8D 2O8E 2O8F 6OQM 8AG6
Enriched GO Terms of Interacting Partners?		Establishment Of Centrosome Localization Negative Regulation Of Programmed Cell Death Endothelial Microparticle Signal Transduction Negative Regulation Of Apoptotic Process Meiotic Mismatch Repair Single Thymine Insertion Binding MutSalpha Complex Response To Light Stimulus Leading Edge Cell Differentiation Mitotic Spindle Assembly Checkpoint MAD1-MAD2 Complex Centrosome Localization Negative Regulation Of Mesenchymal Cell Apoptotic Process Involved In Metanephric Nephron Morphogenesis Pronephric Field Specification Negative Regulation Of Apoptotic Process Involved In Metanephric Nephron Tubule Development Optic Chiasma Development Positive Regulation Of Optic Nerve Formation Regulation Of Metanephros Size Optic Nerve Structural Organization Negative Regulation Of Apoptotic Process Involved In Metanephric Collecting Duct Development Positive Regulation Of Metanephric DCT Cell Differentiation Optic Cup Morphogenesis Involved In Camera-type Eye Development Calcium Channel Activity Regulation Of Programmed Cell Death Regulation Of Apoptotic Process Guanine/thymine Mispair Binding Single Guanine Insertion Binding Response To Anisomycin Cellular Response To Anisomycin Microtubule Organizing Center Mitotic Checkpoint Complex Vestibulocochlear Nerve Formation Negative Regulation Of Mesenchymal Cell Apoptotic Process Involved In Nephron Morphogenesis Metanephric Nephron Tubule Formation Metanephric Distal Convoluted Tubule Development Nephric Duct Formation Positive Regulation Of Metanephric Glomerulus Development Negative Regulation Of Mesenchymal Cell Apoptotic Process Involved In Metanephros Development Ureter Maturation Positive Regulation Of Mesenchymal To Epithelial Transition Involved In Metanephros Morphogenesis Operant Conditioning Intracellular Cyclic Nucleotide Activated Cation Channel Complex Intracellularly Cyclic Nucleotide-activated Monoatomic Cation Channel Activity Intracellularly CGMP-activated Cation Channel Activity Double-stranded DNA Binding Response To Radiation Release From Viral Latency Transcription Factor AP-1 Complex Response To Calcium Ion Centriolar Satellite	Cellular Response To Radiation DNA Repair DNA Damage Response Response To Radiation DNA Metabolic Process Negative Regulation Of Cell Cycle Negative Regulation Of Cell Cycle Phase Transition Damaged DNA Binding Response To Ionizing Radiation Cellular Response To Ionizing Radiation Cellular Response To Stress Negative Regulation Of Cell Cycle Process DNA Damage Checkpoint Signaling Response To Stress Nucleic Acid Metabolic Process Regulation Of Cell Cycle Checkpoint Clamp Complex Nucleobase-containing Compound Metabolic Process Signal Transduction In Response To DNA Damage Intracellular Signal Transduction Regulation Of Cell Cycle Phase Transition MutLalpha Complex Binding Regulation Of Ubiquitin-dependent Protein Catabolic Process Nucleoplasm Regulation Of Cell Cycle Process Regulation Of Cellular Response To Stress Negative Regulation Of Mitotic Cell Cycle Nucleus DNA Recombination Regulation Of Proteasomal Ubiquitin-dependent Protein Catabolic Process Mitotic Intra-S DNA Damage Checkpoint Signaling Histone H2AK127 Ubiquitin Ligase Activity Histone H2AK129 Ubiquitin Ligase Activity Regulation Of Transcription By RNA Polymerase II BRCA1-BARD1 Complex Chromatin Binding Response To UV Histone H3K27 Acetyltransferase Activity Purine-specific Mismatch Base Pair DNA N-glycosylase Activity Mitotic DNA Damage Checkpoint Signaling Mitotic DNA Integrity Checkpoint Signaling Intrinsic Apoptotic Signaling Pathway Intrinsic Apoptotic Signaling Pathway In Response To DNA Damage Positive Regulation Of Catabolic Process Histone H3K18 Acetyltransferase Activity N-terminal Peptidyl-lysine Acetylation Peptide Lactyltransferase (CoA-dependent) Activity Dinucleotide Insertion Or Deletion Binding Regulation Of Proteasomal Protein Catabolic Process Regulation Of Protein Catabolic Process
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