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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 **11 - 20** of 72 in total

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Species	Gene ID	Orthologous MAtrix
Oryctolagus cuniculus	100340509	RABIT04385
Callithrix jacchus	100387733	CALJA15147
Sus scrofa	100521403	PIGXX04743
Meleagris gallopavo	100539554	MELGA11714
Anolis carolinensis	100563412	ANOCA08195
Nomascus leucogenys	100592653	NOMLE36639
Oreochromis niloticus	100690253	ORENI73455
Cricetulus griseus	100768113	CRIGR03631
Canis lupus familiaris	100856544	CANLF09085
Otolemur garnettii	100965821	OTOGA12334