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Tbio
NPHP3
Nephrocystin-3

Protein Summary
Description
Required for normal ciliary development and function. Inhibits disheveled-1-induced canonical Wnt-signaling activity and may also play a role in the control of non-canonical Wnt signaling which regulates planar cell polarity. Probably acts as a molecular switch between different Wnt signaling pathways. Required for proper convergent extension cell movements. This gene encodes a protein containing a coiled-coil (CC) domain, a tubulin-tyrosine ligase (TTL) domain, and a tetratrico peptide repeat (TPR) domain. The encoded protein interacts with nephrocystin, it is required for normal ciliary development, and it functions in renal tubular development. Mutations in this gene are associated with nephronophthisis type 3, and also with renal-hepatic-pancreatic dysplasia, and Meckel syndrome type 7. Naturally occurring read-through transcripts exist between this gene and the downstream ACAD11 (acyl-CoA dehydrogenase family, member 11) gene. [provided by RefSeq, Feb 2011]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000337331
  • ENSP00000338766
  • ENSG00000113971
  • ENST00000383282
  • ENSP00000372769

Symbol
  • KIAA2000
  • MKS7
  • NPH3
  • RHPD
  • RHPD1
  • SLSN3
  • CFAP31
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
cell type or tissue
0.81
histone modification site profile
0.76
tissue sample
0.67
biological process
0.64
phenotype
0.61


Protein Classes
No PANTHER Classes or DTO Classes found
IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 35.6   (req: < 5)
Gene RIFs: 13   (req: <= 3)
Antibodies: 95   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 35.6   (req: >= 5)
Gene RIFs: 13   (req: > 3)
Antibodies: 95   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 20
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
Expression Data (0 Tissues)
No expression data found
Protein Sequence and Structure
Residue Counts
Protein Sequence
ProtVista Viewer
Related Tools (4)
Target Illumination GWAS Analytics (TIGA)
Thumbnail image for Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
Thumbnail image for GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
Thumbnail image for GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
Thumbnail image for ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
Approved Drugs (0)
No approved drugs found
Active Ligands (0)
No active ligands found
Protein-Protein Interactions (99)
UNC119
Tchem
Novelty:  0.00396292
p_int:  1
Score:  0.685
Data Source:  BioPlex,STRINGDB
SNX11
Tdark
Novelty:  0.21586113
p_int:  0.999999961
p_ni:  3.9e-8
Score:  0.193
Data Source:  BioPlex,STRINGDB
GMNN
Tbio
Novelty:  0.00436572
p_int:  0.99999989
p_ni:  1.1e-7
Data Source:  BioPlex
NUP62CL
Tdark
Novelty:  2.93223607
p_int:  0.999999871
p_ni:  1.29e-7
Data Source:  BioPlex
PIP
Tbio
Novelty:  0.00208509
p_int:  0.999997703
p_ni:  0.000002297
Data Source:  BioPlex
CREB3
Tbio
Family:  TF
Novelty:  0.00424318
p_int:  0.999980996
p_ni:  0.000019004
Score:  0.183
Data Source:  BioPlex,STRINGDB
AARSD1
Tdark
Novelty:  0.75372406
p_int:  0.999920057
p_ni:  0.000079943
Data Source:  BioPlex
ZNF517
Tdark
Family:  TF
Novelty:  1.60617003
p_int:  0.999911451
p_ni:  0.000088549
Data Source:  BioPlex
BAP1
Tbio
Family:  Enzyme
Novelty:  0.00501435
p_int:  0.999736765
p_ni:  0.000263235
Data Source:  BioPlex
KLHL29
Tbio
Novelty:  0.72596897
p_int:  0.999642835
p_ni:  0.000357165
Score:  0.211
Data Source:  BioPlex,STRINGDB
Nearest Tclin Targets
Nearest Tclin calculations are only available for targets with KEGG Pathway annotations.
Pathways (5)
Cargo trafficking to the periciliary membrane (R-HSA-5620920)

Click on a row in the table to change the structure displayed.

Find Similar Targets
Items per page:
1 – 4 of 4
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Cargo trafficking to the periciliary membrane
Reactome
Cilium Assembly
Reactome
Organelle biogenesis and maintenance
Reactome
Trafficking of myristoylated proteins to the cilium
Name
Explore in Pharos
Explore in Source
Cargo trafficking to the periciliary membrane
Cilium Assembly
Organelle biogenesis and maintenance
Trafficking of myristoylated proteins to the cilium
Viral Interactions (0)
No viral interactions found
Gene Ontology Terms (22)
Find Similar Targets
Items per page:
10
1 – 2 of 2
GO Term
Evidence
Assigned by
Inferred from Direct Assay (IDA)
UniProtKB
Traceable Author Statement (TAS)
Reactome
Disease Associations (null)
No disease associations found
GWAS Traits (8)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
low density lipoprotein cholesterol measurement
1
1
1
63.1
apolipoprotein B measurement
1
1
1
60.5
total cholesterol measurement
1
1
1
51.4
alkaline phosphatase measurement
1
1
0
6.7
48.5
urate measurement
1
1
1
44.2
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
low density lipoprotein cholesterol measurement
1
63.1
apolipoprotein B measurement
1
60.5
total cholesterol measurement
1
51.4
alkaline phosphatase measurement
0
6.7
48.5
urate measurement
1
44.2
Find similar targets by:
IDG Resources
No IDG generated resources found
Orthologs (11)
1 – 5 of 11
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
nephrocystin 3
VGNC:10484
460706
Mouse
MGI:1921275
74025
Rat
RGD:1563856
363126
Dog
nephrocystin 3
VGNC:43919
100856544
Horse
nephrocystin 3
VGNC:20837
100064940
Species
Name
OMA
EggNOG
Inparanoid
Chimp
nephrocystin 3
Mouse
Rat
Dog
nephrocystin 3
Horse
nephrocystin 3
Publication Statistics
PubMed Score 35.60
PubMed score by year
PubTator Score 30.52
PubTator score by year
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Related Publications
Items per page:
0 of 0
PMID
Year
Title