Tbio NPHP4 Nephrocystin-4

Protein Summary

Description

Involved in the organization of apical junctions; the function is proposed to implicate a NPHP1-4-8 module (PubMed:19755384, PubMed:21565611). Does not seem to be strictly required for ciliogenesis (PubMed:21565611). Required for building functional cilia. Involved in the organization of the subapical actin network in multiciliated epithelial cells. Seems to recruit INT to basal bodies of motile cilia which subsequently interacts with actin-modifying proteins such as DAAM1 (By similarity). In cooperation with INVS may downregulate the canonical Wnt pathway and promote the Wnt-PCP pathway by regulating expression and subcellular location of disheveled proteins. Stabilizes protein levels of JADE1 and promotes its translocation to the nucleus leading to cooperative inhibition of canonical Wnt signaling (PubMed:21498478, PubMed:22654112). Acts as negative regulator of the hippo pathway by association with LATS1 and modifying LATS1-dependent phosphorylation and localization of WWTR1/TAZ (PubMed:21555462). This gene encodes a protein involved in renal tubular development and function. This protein interacts with nephrocystin, and belongs to a multifunctional complex that is localized to actin- and microtubule-based structures. Mutations in this gene are associated with nephronophthisis type 4, a renal disease, and with Senior-Loken syndrome type 4, a combination of nephronophthisis and retinitis pigmentosa. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]

Uniprot Accession IDs

• O75161
• Q8IWC0

Gene Name

• NPHP4

Ensembl ID

• ENST00000378156
• ENSP00000367398
• ENSG00000131697
• ENST00000489180
• ENSP00000423747
• ENST00000622020
• ENSP00000481831

Symbol

• KIAA0673
• POC10
• SLSN4

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
cellular component	0.83
transcription factor	0.78
transcription factor binding site profile	0.77
histone modification site profile	0.74
virus perturbation	0.72

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: 40.57   (req: < 5)

Gene RIFs: 19   (req: <= 3)

Antibodies: 101   (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: 40.57   (req: >= 5)

Gene RIFs: 19   (req: > 3)

Antibodies: 101   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 13

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)

tutorial

No expression data found

Protein Sequence and Structure

Residue Counts

Protein Sequence

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Related Tools (3)

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.

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GlyGen

GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.

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ARCHS4

ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.

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Approved Drugs (0)

No approved drugs found

Active Ligands (0)

No active ligands found

Protein-Protein Interactions (185)

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1 – 10 of 185

• See Interactions on String-DB

RPGR

Tbio

Family:  Enzyme

Novelty:  0.002733

p_int:  0.999999949

p_ni:  4.3e-8

p_wrong:  8e-9

Score:  0.972

Data Source:  BioPlex,STRINGDB

SSSCA1

Tdark

Novelty:  0.53523038

p_int:  0.99992528

p_ni:  0.000073593

p_wrong:  0.000001127

Data Source:  BioPlex

SKAP1

Tbio

Family:  Enzyme

Novelty:  0.03753848

p_int:  0.999500421

p_ni:  0.000481193

p_wrong:  0.000018387

Score:  0.186

Data Source:  BioPlex,STRINGDB

DNAJC7

Tbio

Novelty:  0.02133191

p_int:  0.867278217

p_ni:  0.000721146

p_wrong:  0.132000637

Score:  0.173

Data Source:  BioPlex,STRINGDB

NPHP1

Tbio

Novelty:  0.01113034

Score:  0.999

Data Source:  Reactome,STRINGDB

RPGRIP1L

Tbio

Novelty:  0.00819421

Score:  0.999

Data Source:  Reactome,STRINGDB

B9D2

Tbio

Novelty:  0.11310836

Score:  0.985

Data Source:  STRINGDB

CC2D2A

Tbio

Novelty:  0.03684487

Score:  0.984

Data Source:  STRINGDB

B9D1

Tbio

Novelty:  0.11567839

Score:  0.984

Data Source:  STRINGDB

TMEM67

Tbio

Novelty:  0.02573267

Score:  0.983

Data Source:  STRINGDB

Nearest Tclin Targets

Nearest Tclin calculations are only available for targets with KEGG Pathway annotations.

Pathways (6)

Reactome (5)

WikiPathways (1)

Anchoring of the basal body to the plasma membrane (R-HSA-5620912)

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Data Source	Name	Explore in Pharos	Explore in Source
Reactome	Anchoring of the basal body to the plasma membrane	97 targets	R-HSA-5620912
Reactome	Cilium Assembly	187 targets	R-HSA-5617833
Reactome	Organelle biogenesis and maintenance	276 targets	R-HSA-1852241
Reactome	Signal Transduction	2704 targets	R-HSA-162582
Reactome	Signaling by Hippo	20 targets	R-HSA-2028269

Name	Explore in Pharos	Explore in Source
Anchoring of the basal body to the plasma membrane	97 targets	R-HSA-5620912
Cilium Assembly	187 targets	R-HSA-5617833
Organelle biogenesis and maintenance	276 targets	R-HSA-1852241
Signal Transduction	2704 targets	R-HSA-162582
Signaling by Hippo	20 targets	R-HSA-2028269

Viral Interactions (0)

No viral interactions found

Gene Ontology Terms (22)

Functions (1)

Components (9)

Processes (12)

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1 – 1 of 1

GO Term	Evidence	Assigned by
structural molecule activity	Non-traceable Author Statement (NAS)	UniProtKB

Disease Associations (null)

No disease associations found

GWAS Traits (0)

No GWAS traits found

Find similar targets by:

UniProt Keyword Find Similar Targets

No Header	No Header
Alternative splicing
Cell junction
Cell projection
Ciliopathy
Cilium
Complete proteome
Cytoplasm
Cytoskeleton
Disease mutation
Leber congenital amaurosis

MGI Phenotype Find Similar Targets

No Header	No Header
cardiovascular system phenotype
cellular phenotype
nervous system phenotype
pigmentation phenotype
reproductive system phenotype
vision/eye phenotype

IDG Resources

No IDG generated resources found

Orthologs (11)

1 – 5 of 11

Species	Name	Source ID	Gene ID	OMA	EggNOG	Inparanoid
Macaque	nephrocystin 4		720707
Mouse	nephronophthisis 4 (juvenile) homolog (human)	MGI:2384210	260305
Rat	nephrocystin 4	RGD:1560172	313749
Dog	nephrocystin 4	VGNC:43920	489625
Horse	nephrocystin 4	VGNC:20838	100059842

Species	Name	OMA	EggNOG	Inparanoid
Macaque	nephrocystin 4
Mouse	nephronophthisis 4 (juvenile) homolog (human)
Rat	nephrocystin 4
Dog	nephrocystin 4
Horse	nephrocystin 4

Publication Statistics

PubMed Score 40.57

PubMed score by year

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PubTator Score 26.47

PubTator score by year

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Related Publications

Text Mined References (42)

GeneRif Annotations (19)

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10

0 of 0

PMID	Year	Title