BBS1 and ATP6AP2

Data Source:
BioGRID (genetic interference)

		BBS1	ATP6AP2
Description		Bardet-Biedl syndrome 1	ATPase H+ transporting accessory protein 2
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GO Annotations	Cellular Component	Centrosome Cytosol Axoneme BBSome Ciliary Basal Body Ciliary Membrane	Autophagosome Membrane Lysosome Lysosomal Membrane Endoplasmic Reticulum Membrane Plasma Membrane External Side Of Plasma Membrane Endosome Membrane Integral Component Of Membrane Apical Plasma Membrane Vacuolar Proton-transporting V-type ATPase Complex Axon Dendritic Spine Membrane Cell Body Postsynaptic Membrane Extracellular Exosome Tertiary Granule Membrane Ficolin-1-rich Granule Membrane
	Molecular Function	RNA Polymerase II Repressing Transcription Factor Binding Patched Binding Smoothened Binding Protein Binding	Protein Binding Signaling Receptor Activity
	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	Angiotensin Maturation Lysosomal Lumen Acidification Central Nervous System Maturation Rostrocaudal Neural Tube Patterning Positive Regulation Of Wnt Signaling Pathway Positive Regulation Of Transforming Growth Factor Beta1 Production Neutrophil Degranulation Regulation Of MAPK Cascade Eye Pigmentation Head Morphogenesis Positive Regulation Of Canonical Wnt Signaling Pathway
Pathways		BBSome-mediated cargo-targeting to cilium	Metabolism of Angiotensinogen to Angiotensins Neutrophil degranulation
Drugs
Diseases		Bardet-Biedl syndrome (BBS)	Syndromic X-linked mental retardation with epilepsy or seizures, including: West syndrome (WS); Partington syndrome (PRTS); Proud syndrome (ACCAG); XMR and epilepsy (XMRE); MRXHF1; XMR OPHN1-related (MRXSO) ; XELBD; XMR, Christianson type (MRXSC); Creatine deficiency syndrome (XL-CDS); Renpenning syndrome (RENS1); Epilepsy and mental retardation limited to females (EFMR); Periventricular nodular heterotopia (PVNH); Hydrocephalus (XLH); XMR, JARID1C related (MRXSJ); Boerjeson-Forssman syndrome (BFLS); CK syndrome (CKS)
GWAS		Bipolar disorder ( 21926972) Height ( 28552196)	Metabolite levels ( 23823483)
Interacting Genes		13 interacting genes: BHMT CALCA DCTN1 EEF1A1 EIF3A EPAS1 EXOC7 FHOD1 HSCB KRT18 PARK7 PAX2 TSPAN7	19 interacting genes: ADRA1A AGT CD72 CREB3 GLP1R HTR2C NKG7 NSG1 PMP22 PTTG1IP REN SEC22A TIMMDC1 TMEM203 TMEM97 UPK2 VAMP5 VKORC1 ZBTB16
Entrez ID		582	10159
HPRD ID		01950	06454
Ensembl ID		ENSG00000174483	ENSG00000182220
Uniprot IDs		Q8NFJ9	O75787
PDB IDs		6XT9	3LBS 3LC8
Enriched GO Terms of Interacting Partners?
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