NPHP1 and BCL2L11

Data Source:
HPRD (in vitro)

		NPHP1	BCL2L11
Description		nephrocystin 1	BCL2 like 11
Image
GO Annotations	Cellular Component	Cytoplasm Cytosol Cytoskeleton Cell-cell Junction Adherens Junction Bicellular Tight Junction Cilium Membrane Motile Cilium Photoreceptor Connecting Cilium	Mitochondrion Mitochondrial Outer Membrane Cytosol Endomembrane System Extrinsic Component Of Membrane Bcl-2 Family Protein Complex
	Molecular Function	Structural Molecule Activity Protein Binding	Protein Binding Microtubule Binding Protein Kinase Binding
	Biological Process	Signal Transduction Excretion Visual Behavior Cell Projection Organization Actin Cytoskeleton Organization Spermatid Differentiation Retina Development In Camera-type Eye Protein Localization Involved In Establishment Of Planar Polarity Ciliary Basal Body-plasma Membrane Docking Cell-cell Adhesion Positive Regulation Of Bicellular Tight Junction Assembly	In Utero Embryonic Development B Cell Homeostasis B Cell Apoptotic Process Kidney Development Protein Insertion Into Mitochondrial Membrane Involved In Apoptotic Signaling Pathway Myeloid Cell Homeostasis Apoptotic Process Meiosis I Cell-matrix Adhesion Spermatogenesis Brain Development Male Gonad Development Intrinsic Apoptotic Signaling Pathway In Response To DNA Damage Mammary Gland Development Positive Regulation Of Protein-containing Complex Assembly Positive Regulation Of Autophagy In Response To ER Overload Response To Endoplasmic Reticulum Stress Tube Formation Odontogenesis Of Dentin-containing Tooth Regulation Of Apoptotic Process T Cell Homeostasis Positive Regulation Of Apoptotic Process Positive Regulation Of Cysteine-type Endopeptidase Activity Involved In Apoptotic Process Positive Regulation Of Neuron Apoptotic Process Ear Development Positive Regulation Of Cell Cycle Regulation Of Organ Growth Developmental Pigmentation Regulation Of Developmental Pigmentation Spleen Development Thymus Development Post-embryonic Animal Organ Morphogenesis Positive Regulation Of Apoptotic Process By Virus Thymocyte Apoptotic Process Cellular Response To Glucocorticoid Stimulus Cellular Response To Estradiol Stimulus Positive Regulation Of Release Of Cytochrome C From Mitochondria Extrinsic Apoptotic Signaling Pathway In Absence Of Ligand Positive Regulation Of Endoplasmic Reticulum Stress-induced Intrinsic Apoptotic Signaling Pathway Apoptotic Process Involved In Embryonic Digit Morphogenesis Positive Regulation Of IRE1-mediated Unfolded Protein Response Cellular Response To Amyloid-beta Positive Regulation Of Fibroblast Apoptotic Process Positive Regulation Of Intrinsic Apoptotic Signaling Pathway
Pathways		Anchoring of the basal body to the plasma membrane	Activation of BIM and translocation to mitochondria BH3-only proteins associate with and inactivate anti-apoptotic BCL-2 members NRAGE signals death through JNK Signaling by BRAF and RAF fusions Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models RUNX3 regulates BCL2L11 (BIM) transcription FLT3 Signaling FOXO-mediated transcription of cell death genes
Drugs
Diseases		Joubert syndrome Nephronophthisis-medullary cystic kidney disease, including; Nephronophthisis (NPH) ; Nephronophthisis-like nephropathy 1; Medullary cystic kidney disease 1; Medullary cystic kidney disease 2 (MSKD2) Senior-Loken syndrome
GWAS			Allergic disease (asthma, hay fever or eczema) ( 29083406) Alopecia areata ( 25608926) Asthma ( 30929738 32296059) Asthma (childhood onset) ( 30929738) B-cell malignancies (chronic lymphocytic leukemia, Hodgkin lymphoma or multiple myeloma) (pleiotropy) ( 28112199) Breast cancer ( 29059683) Breast cancer, ovarian cancer or prostate cancer (pleiotropy) ( 27432226) Chronic lymphocytic leukemia ( 18758461 28165464 26956414 24292274 23770605) Composite immunoglobulin trait (IgA x IgG/IgM) ( 28628107) Dehydroepiandrosterone sulphate levels ( 21533175) Eosinophil counts ( 32888494 27863252) Eosinophil percentage of granulocytes ( 27863252) Eosinophil percentage of white cells ( 32888494 27863252) Eosinophilic granulomatosis with polyangiitis ( 31719529) Granulocyte percentage of myeloid white cells ( 27863252) HDL cholesterol levels ( 32203549) Heel bone mineral density ( 30598549) High light scatter reticulocyte count ( 32888494 27863252) High light scatter reticulocyte percentage of red cells ( 32888494 27863252) Immature fraction of reticulocytes ( 27863252) Lymphocyte counts ( 32888494) Mean corpuscular hemoglobin ( 32888494) Mean reticulocyte volume ( 32888494) Monocyte count ( 32888494 27863252) Monocyte percentage of white cells ( 32888494 27863252) Multiple sclerosis ( 31604244) Neutrophil percentage of granulocytes ( 27863252) Neutrophil percentage of white cells ( 32888494 27863252) Primary sclerosing cholangitis ( 27992413 21151127) Prostate cancer ( 29892016) Prostate cancer (advanced) ( 29892016) Reticulocyte count ( 32888494) Reticulocyte fraction of red cells ( 32888494 27863252) Sum eosinophil basophil counts ( 27863252) Triglyceride levels ( 32203549) Type 2 diabetes ( 30054458 28869590) Urinary albumin-to-creatinine ratio ( 32600054) Vitiligo ( 27723757)
Interacting Genes		16 interacting genes: ADAM15 ARHGAP32 BCAR1 FBXO7 FLNA FLNB FLNC INVS KHDRBS1 NPHP3 NPHP4 PAK2 PTK2B TNK2 TUBB UBQLN4	32 interacting genes: AKT1 APP ATP6V1G1 AURKB BCL2 BCL2A1 BCL2L1 BCL2L10 BCL2L2 BTK DTX2 DYNLL1 DYNLL2 FEM1C FGL1 GTF2I MAGEA11 MAPK10 MAPK8 MAPK9 MCL1 MEX3D MKRN3 PEX19 RACK1 RIOK3 SMARCB1 TRIM2 UBQLN2 USHBP1 VDAC1 YWHAB
Entrez ID		4867	10018
HPRD ID		09524	04828
Ensembl ID		ENSG00000144061	ENSG00000153094
Uniprot IDs		C9JNM7 O15259	A0A0A0MRE7 A0A0C4DH20 O43521
PDB IDs		1S1N 6O1Q	1F95 2K7W 2NL9 2V6Q 2VM6 2WH6 2YQ6 2YQ7 3D7V 3FDL 3IO8 3IO9 3KJ0 3KJ1 3KJ2 4A1U 4A1W 4B4S 4D2M 4QVF 4UF3 4YJ4 4ZIE 4ZIF 4ZIH 5AGW 5AGX 5C3G 5VWV 5VWW 5VWX 5VWY 5VWZ 5VX0 5VX2 5VX3 5WOS 6QFI 6RJP 6TQQ 6UA3 6UAB 6X8O
Enriched GO Terms of Interacting Partners?
Tagcloud ?
Tagcloud (Difference) ?
Tagcloud (Intersection) ?