ATP6AP2 and BBS1

Data Source:
BioGRID (genetic interference)

		ATP6AP2	BBS1
Description		ATPase H+ transporting accessory protein 2	Bardet-Biedl syndrome 1
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GO Annotations	Cellular Component	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	Centrosome Cytosol Axoneme BBSome Ciliary Basal Body Ciliary Membrane
	Molecular Function	Protein Binding Signaling Receptor Activity	RNA Polymerase II Repressing Transcription Factor Binding Patched Binding Smoothened Binding Protein Binding
	Biological Process	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	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		Metabolism of Angiotensinogen to Angiotensins Neutrophil degranulation	BBSome-mediated cargo-targeting to cilium
Drugs
Diseases		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)	Bardet-Biedl syndrome (BBS)
GWAS		Metabolite levels ( 23823483)	Bipolar disorder ( 21926972) Height ( 28552196)
Interacting Genes		19 interacting genes: ADRA1A AGT CD72 CREB3 GLP1R HTR2C NKG7 NSG1 PMP22 PTTG1IP REN SEC22A TIMMDC1 TMEM203 TMEM97 UPK2 VAMP5 VKORC1 ZBTB16	13 interacting genes: BHMT CALCA DCTN1 EEF1A1 EIF3A EPAS1 EXOC7 FHOD1 HSCB KRT18 PARK7 PAX2 TSPAN7
Entrez ID		10159	582
HPRD ID		06454	01950
Ensembl ID		ENSG00000182220	ENSG00000174483
Uniprot IDs		O75787	Q8NFJ9
PDB IDs		3LBS 3LC8	6XT9
Enriched GO Terms of Interacting Partners?
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