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nephrocystin 3

Summary

Gene Symbol

NPHP3

Organism

Homo sapiens (human)

External Links

NCBI Gene

27031

PubChem

27031

Alliance of Genome Resources

HGNC:7907

Annotation

Keyword

3D-structure
Alternative splicing
Cilium
Coiled coil
Disease variant
Meckel syndrome
Myristate
Nephronophthisis
Reference proteome
Repeat
TPR repeat
Wnt signaling pathway

Proteins

Displaying 1 entry
UniProt	Protein Name
Q7Z494

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 24 in total

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GO Term	Evidence Code	PMID
heart looping	IMP	18371931 20007846
determination of pancreatic left/right asymmetry	IMP	20007846
lung development	IMP	20007846
epithelial cilium movement involved in determination of left/right asymmetry	IC
determination of stomach left/right asymmetry	IMP	18371931

GO Hierarchy

biological process

metabolic process [inference]

primary metabolic process [inference]

lipid metabolic process

organic substance metabolic process [inference]

lipid metabolic process

cellular process [inference]

microtubule-based process [inference]

microtubule-based movement [inference]

cilium movement [inference]

epithelial cilium movement involved in extracellular fluid movement [inference]

epithelial cilium movement involved in determination of left/right asymmetry

establishment or maintenance of cell polarity

signal transduction [inference]

cell surface receptor signaling pathway [inference]

Wnt signaling pathway

cellular component organization or biogenesis [inference]

cellular component organization [inference]

organelle organization [inference]

cilium organization [inference]

cilium assembly

non-motile cilium assembly

organelle assembly [inference]

cilium assembly

non-motile cilium assembly

cellular component assembly [inference]

cell projection assembly [inference]

plasma membrane bounded cell projection assembly [inference]

cilium assembly

non-motile cilium assembly

organelle assembly [inference]

cilium assembly

non-motile cilium assembly

cell projection organization [inference]

cell projection assembly [inference]

plasma membrane bounded cell projection assembly [inference]

cilium assembly

non-motile cilium assembly

plasma membrane bounded cell projection organization [inference]

cilium organization [inference]

cilium assembly

non-motile cilium assembly

plasma membrane bounded cell projection assembly [inference]

cilium assembly

non-motile cilium assembly

extracellular structure organization [inference]

extracellular matrix organization

external encapsulating structure organization [inference]

extracellular matrix organization

multicellular organismal process [inference]

pattern specification process [inference]

specification of symmetry [inference]

determination of bilateral symmetry [inference]

determination of left/right symmetry

determination of pancreatic left/right asymmetry

determination of digestive tract left/right asymmetry [inference]

determination of liver left/right asymmetry

photoreceptor cell maintenance

developmental process [inference]

anatomical structure morphogenesis [inference]

animal organ morphogenesis [inference]

kidney morphogenesis

tube morphogenesis [inference]

epithelial tube morphogenesis [inference]

embryonic heart tube morphogenesis [inference]

heart looping

embryonic morphogenesis [inference]

embryonic heart tube morphogenesis [inference]

heart looping

convergent extension involved in gastrulation

tissue morphogenesis [inference]

morphogenesis of an epithelium [inference]

convergent extension

convergent extension involved in gastrulation

epithelial tube morphogenesis [inference]

embryonic heart tube morphogenesis [inference]

heart looping

anatomical structure development [inference]

cardiac septum development [inference]

atrial septum development

tube development [inference]

ureter development

animal organ development [inference]

localization [inference]

establishment of localization [inference]

transport [inference]

extracellular transport [inference]

epithelial cilium movement involved in extracellular fluid movement [inference]

epithelial cilium movement involved in determination of left/right asymmetry

microtubule-based transport [inference]

epithelial cilium movement involved in extracellular fluid movement [inference]

epithelial cilium movement involved in determination of left/right asymmetry

biological regulation [inference]

regulation of biological process [inference]

regulation of signaling [inference]

regulation of signal transduction [inference]

negative regulation of signal transduction [inference]

negative regulation of Wnt signaling pathway [inference]

negative regulation of canonical Wnt signaling pathway

regulation of Wnt signaling pathway [inference]

negative regulation of Wnt signaling pathway [inference]

negative regulation of canonical Wnt signaling pathway

regulation of canonical Wnt signaling pathway [inference]

negative regulation of canonical Wnt signaling pathway

regulation of non-canonical Wnt signaling pathway [inference]

regulation of Wnt signaling pathway, planar cell polarity pathway

negative regulation of signaling [inference]

negative regulation of signal transduction [inference]

negative regulation of Wnt signaling pathway [inference]

negative regulation of canonical Wnt signaling pathway

negative regulation of biological process [inference]

negative regulation of signaling [inference]

negative regulation of signal transduction [inference]

negative regulation of Wnt signaling pathway [inference]

negative regulation of canonical Wnt signaling pathway

negative regulation of cellular process [inference]

negative regulation of cell communication [inference]

negative regulation of signal transduction [inference]

negative regulation of Wnt signaling pathway [inference]

negative regulation of canonical Wnt signaling pathway

negative regulation of cell differentiation [inference]

maintenance of animal organ identity

negative regulation of response to stimulus [inference]

negative regulation of signal transduction [inference]

negative regulation of Wnt signaling pathway [inference]

negative regulation of canonical Wnt signaling pathway

negative regulation of developmental process [inference]

negative regulation of cell differentiation [inference]

maintenance of animal organ identity

regulation of response to stimulus [inference]

regulation of signal transduction [inference]

negative regulation of signal transduction [inference]

negative regulation of Wnt signaling pathway [inference]

negative regulation of canonical Wnt signaling pathway

regulation of Wnt signaling pathway [inference]

negative regulation of Wnt signaling pathway [inference]

negative regulation of canonical Wnt signaling pathway

regulation of canonical Wnt signaling pathway [inference]

negative regulation of canonical Wnt signaling pathway

regulation of non-canonical Wnt signaling pathway [inference]

regulation of Wnt signaling pathway, planar cell polarity pathway

negative regulation of response to stimulus [inference]

negative regulation of signal transduction [inference]

negative regulation of Wnt signaling pathway [inference]

negative regulation of canonical Wnt signaling pathway

regulation of developmental process [inference]

regulation of cell differentiation [inference]

negative regulation of cell differentiation [inference]

maintenance of animal organ identity

negative regulation of developmental process [inference]

negative regulation of cell differentiation [inference]

maintenance of animal organ identity

regulation of cellular process [inference]

signal transduction [inference]

cell surface receptor signaling pathway [inference]

Wnt signaling pathway

regulation of cell communication [inference]

regulation of signal transduction [inference]

negative regulation of signal transduction [inference]

negative regulation of Wnt signaling pathway [inference]

negative regulation of canonical Wnt signaling pathway

regulation of Wnt signaling pathway [inference]

negative regulation of Wnt signaling pathway [inference]

negative regulation of canonical Wnt signaling pathway

regulation of canonical Wnt signaling pathway [inference]

negative regulation of canonical Wnt signaling pathway

regulation of non-canonical Wnt signaling pathway [inference]

regulation of Wnt signaling pathway, planar cell polarity pathway

negative regulation of cell communication [inference]

negative regulation of signal transduction [inference]

negative regulation of Wnt signaling pathway [inference]

negative regulation of canonical Wnt signaling pathway

regulation of cell differentiation [inference]

negative regulation of cell differentiation [inference]

maintenance of animal organ identity

negative regulation of cellular process [inference]

negative regulation of cell communication [inference]

negative regulation of signal transduction [inference]

negative regulation of Wnt signaling pathway [inference]

negative regulation of canonical Wnt signaling pathway

negative regulation of cell differentiation [inference]

maintenance of animal organ identity

Displaying **all 5** entries
GO Term	Evidence Code	PMID
ciliary base	IBA
extracellular region	IEA
ciliary inversin compartment	IBA
cytosol	TAS
cilium	IDA TAS	20462968 22085962

GO Hierarchy

cellular component

cellular anatomical entity [inference]

cell projection [inference]

plasma membrane bounded cell projection [inference]

cilium

organelle [inference]

membrane-bounded organelle [inference]

cilium

Displaying 1 entry
GO Term	Evidence Code	PMID
protein binding	IPI	12872122 18371931 22085962 22863007 22960633 23418306 27173435 29959317 33961781

GO Hierarchy

molecular function

binding [inference]

protein binding

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

tetratricopeptide repeat

Functional Category

E: Amino acid transport and metabolism
G: Carbohydrate transport and metabolism
T: Signal transduction mechanisms

Displaying 1 entry
InterPro
Tetratricopeptide-like helical domain superfamily

Disease

Disease Ontology

Displaying **all 6** entries
DO ID	Disease Name	Source
DOID:0060259	renal-hepatic-pancreatic dysplasia	Alliance of Genome Resources
DOID:0070121	Meckel syndrome 7	Alliance of Genome Resources
DOID:0111114	nephronophthisis 3	Alliance of Genome Resources
DOID:10763	hypertension	Alliance of Genome Resources
DOID:12712	nephronophthisis	Alliance of Genome Resources
DOID:898	autosomal dominant polycystic kidney disease	Alliance of Genome Resources

Ortholog

Displaying entries **1 - 10** of 72 in total

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Species	Gene ID	OrthoDB	Alliance of Genome Resources	Orthologous MAtrix
Mus musculus	74025		MGI:1921275	MOUSE63195
Rattus norvegicus	363126		RGD:1563856	RATNO41905
Xenopus laevis	446530		Xenbase:XB-GENE-865745
Pan troglodytes	460706	9598_0:0010a4		PANTR32211
Bos taurus	507522			BOVIN15362
Danio rerio	562601		ZFIN:ZDB-GENE-091204-117	DANRE26151
Macaca mulatta	717622			MACMU28167
Xenopus tropicalis	780190		Xenbase:XB-GENE-487873
Monodelphis domestica	100023577			MONDO33757
Ornithorhynchus anatinus	100083471			ORNAN25542