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EPC1 and NPHP3
EPC1
NPHP3
Description
enhancer of polycomb 1
nephrocystin 3
Image
GO Annotations
Cellular Component
Nucleosome
Nucleus
Nucleoplasm
Nucleolus
Cytoplasm
Nuclear Body
Nuclear Membrane
Piccolo Histone Acetyltransferase Complex
NuA4 Histone Acetyltransferase Complex
Site Of Double-strand Break
Extracellular Region
Cytosol
Cilium
Cell Projection
Ciliary Inversin Compartment
Ciliary Base
Molecular Function
Protein Binding
Chromatin-protein Adaptor Activity
Enzyme-substrate Adaptor Activity
Protein Binding
Biological Process
Negative Regulation Of Transcription By RNA Polymerase II
Double-strand Break Repair Via Homologous Recombination
Double-strand Break Repair Via Nonhomologous End Joining
Chromatin Organization
DNA-templated Transcription
Regulation Of Transcription By RNA Polymerase II
Spermatogenesis
Spermatid Development
Cell Differentiation
Sperm DNA Condensation
Regulation Of Apoptotic Process
Negative Regulation Of Gene Expression, Epigenetic
Negative Regulation Of DNA-templated Transcription
Positive Regulation Of DNA-templated Transcription
Positive Regulation Of Transcription By RNA Polymerase II
Regulation Of Cell Cycle
Positive Regulation Of Double-strand Break Repair Via Homologous Recombination
Regulation Of Double-strand Break Repair
Kidney Development
Heart Looping
Atrial Septum Development
Lipid Metabolic Process
Establishment Or Maintenance Of Cell Polarity
Determination Of Left/right Symmetry
Wnt Signaling Pathway
Extracellular Matrix Organization
Lung Development
Determination Of Pancreatic Left/right Asymmetry
Photoreceptor Cell Maintenance
Maintenance Of Animal Organ Identity
Convergent Extension
Convergent Extension Involved In Gastrulation
Cilium Assembly
Epithelial Cilium Movement Involved In Determination Of Left/right Asymmetry
Kidney Morphogenesis
Determination Of Intestine Left/right Asymmetry
Determination Of Stomach Left/right Asymmetry
Determination Of Liver Left/right Asymmetry
Ureter Development
Negative Regulation Of Canonical Wnt Signaling Pathway
Non-motile Cilium Assembly
Regulation Of Wnt Signaling Pathway, Planar Cell Polarity Pathway
Pathways
HATs acetylate histones
Transcriptional Regulation by E2F6
Trafficking of myristoylated proteins to the cilium
Drugs
Diseases
Renal-hepatic-pancreatic dysplasia
Meckel syndrome (MKS); Meckel-Gruber 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
Diastolic blood pressure (
30224653
)
Metabolite levels (
23823483
)
Platelet distribution width (
27863252
32888494
)
Sexual dysfunction (female) (
22509378
)
Waist-hip index (
34021172
)
Brain morphology (min-P) (
32665545
)
Brain morphology (MOSTest) (
32665545
)
Cortical surface area (MOSTest) (
32665545
)
Mean corpuscular hemoglobin (
27863252
)
Mean corpuscular volume (
27863252
)
Menarche (age at onset) (
21102462
27182965
)
Serum alkaline phosphatase levels (
33547301
)
Subcortical volume (MOSTest) (
32665545
)
Interacting Genes
8 interacting genes:
CHRM5
E2F6
HOPX
KRT15
MBTD1
RINT1
SYCE1L
TRIM27
3 interacting genes:
ATXN1
DYSF
NPHP1
Entrez ID
80314
27031
HPRD ID
09941
06417
Ensembl ID
ENSG00000120616
ENSG00000113971
Uniprot IDs
Q9H2F5
Q7Z494
PDB IDs
6NFX
8QR1
8XVG
8XVT
9C57
9C62
9C6N
5L7K
Enriched GO Terms of Interacting Partners
?
Double-strand Break Repair Via Nonhomologous End Joining
Tagcloud
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Tagcloud (Difference)
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Tagcloud (Intersection)
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