ACTN3 and BBS1

		ACTN3	BBS1
Description		actinin alpha 3	Bardet-Biedl syndrome 1
Image
GO Annotations	Cellular Component	Cytosol Actin Filament Plasma Membrane Brush Border Focal Adhesion Z Disc Cell Junction Cortical Actin Cytoskeleton Pseudopodium Cell Projection Extracellular Exosome	Centrosome Cytosol Axoneme BBSome Ciliary Basal Body Ciliary Membrane
	Molecular Function	Integrin Binding Calcium Ion Binding Protein Binding Structural Constituent Of Muscle Identical Protein Binding Transmembrane Transporter Binding Actin Filament Binding	Patched Binding Smoothened Binding Protein Binding RNA Polymerase II-specific DNA-binding Transcription Factor Binding
	Biological Process	Muscle Contraction Regulation Of The Force Of Skeletal Muscle Contraction Skeletal Muscle Atrophy Transition Between Fast And Slow Fiber Response To Denervation Involved In Regulation Of Muscle Adaptation Actin Cytoskeleton Organization Positive Regulation Of Fast-twitch Skeletal Muscle Fiber Contraction Regulation Of Apoptotic Process Negative Regulation Of Glycolytic Process Focal Adhesion Assembly Positive Regulation Of Skeletal Muscle Tissue Growth Positive Regulation Of Skeletal Muscle Fiber Development Muscle Cell Development Bone Morphogenesis Negative Regulation Of Calcineurin-NFAT Signaling Cascade Negative Regulation Of Oxidative Phosphorylation Negative Regulation Of Cold-induced Thermogenesis Positive Regulation Of Bone Mineralization Involved In Bone Maturation Negative Regulation Of Relaxation Of Muscle Regulation Of Aerobic Respiration Positive Regulation Of Glucose Catabolic Process To Lactate Via Pyruvate	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
Pathways		Nephrin family interactions Striated Muscle Contraction	BBSome-mediated cargo-targeting to cilium
Drugs
Diseases
GWAS		Bipolar disorder ( 21926972) Frontotemporal dementia with GRN mutation ( 29724592)	Bipolar disorder ( 21926972) Height ( 28552196)
Interacting Genes		64 interacting genes: ABI3 ACTN1 ACTN2 ACTN4 ADORA2A ASB9 ATP23 BBS1 BRCA1 C1orf94 C20orf85 C2CD6 CADPS CTAG1A CTAG1B CTDSP1 CXCL5 DDAH2 DUX1 DUX4L9 DYNC1I2 ECM1 FAM90A1 GLIS2 HGS HOXD12 HSF2BP IVD KCTD6 KRT6C LHX3 LINC01554 LNX1 MAGEA6 MICALL2 MYOT MYOZ1 MYPN NDUFAB1 NEBL NKAPD1 NRAP ODF3B PCCB PKP2 PLEKHG2 POU6F2 PPP1R18 PTK6 REL RNF111 RTP5 SNAI1 SOHLH1 SUMO1P1 SYNPO2L TRAF1 TRAF2 TRIM29 TTN USP2 XPO1 ZNF343 ZNF426	19 interacting genes: ACTN3 ATP6AP2 BAD BAK1 BHMT CALCA DCTN1 EEF1A1 EIF3A EPAS1 EXOC7 FHOD1 HSCB KRT18 PARK7 PAX2 PEPD POLR2G TSPAN7
Entrez ID		89	582
HPRD ID		02148	01950
Ensembl ID		ENSG00000248746	ENSG00000174483
Uniprot IDs		A0A087WSZ2 B4DZQ2 Q08043	Q8NFJ9
PDB IDs		1TJT 1WKU 3LUE	6XT9
Enriched GO Terms of Interacting Partners?
Tagcloud ?
Tagcloud (Difference) ?
Tagcloud (Intersection) ?