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MOUSE:NPHP3

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Species (Taxon ID) Mus musculus (Mouse). (10090)
Gene Name(s) Nphp3 (synonyms: Kiaa2000)
Protein Name(s) Nephrocystin-3
External Links
UniProt Q7TNH6
EMBL AY259499
AK014393
AK048877
AC138739
AK052281
AK173327
CCDS CCDS40749.1
RefSeq NP_082997.3
NP_766048.1
UniGene Mm.479273
ProteinModelPortal Q7TNH6
SMR Q7TNH6
BioGrid 216433
IntAct Q7TNH6
PhosphoSite Q7TNH6
PRIDE Q7TNH6
Ensembl ENSMUST00000035167
GeneID 74025
KEGG mmu:74025
UCSC uc009rhb.2
uc009rhc.2
CTD 27031
MGI MGI:1921275
GeneTree ENSGT00390000006393
HOGENOM HOG000171514
HOVERGEN HBG079457
InParanoid Q7TNH6
OMA SMAAEYF
OrthoDB EOG7VDXND
TreeFam TF314010
ChiTaRS Nphp3
NextBio 339570
PRO PR:Q7TNH6
Proteomes UP000000589
Bgee Q7TNH6
CleanEx MM_NPHP3
ExpressionAtlas Q7TNH6
Genevestigator Q7TNH6
GO GO:0097546
GO:0097543
GO:0005929
GO:0072372
GO:0060271
GO:0007368
GO:0007163
GO:0030198
GO:0060993
GO:0006629
GO:0048496
GO:0090090
GO:0030814
GO:2000095
GO:0016055
Gene3D 1.25.40.10
3.40.50.300
InterPro IPR027417
IPR013026
IPR011990
IPR019734
Pfam PF13176
SMART SM00028
SUPFAM SSF52540
PROSITE PS50005
PS50293

Annotations

Qualifier GO ID GO term name Reference ECO ID ECO term name with/from Aspect Extension Notes Status

involved_in

GO:0060993

kidney morphogenesis

PMID:18371931[1]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0060271

cilium assembly

PMID:18371931[1]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0007368

determination of left/right symmetry

PMID:18371931[1]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0048496

maintenance of animal organ identity

PMID:12872122[2]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:2000095

regulation of Wnt signaling pathway, planar cell polarity pathway

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:Q6AZT7

P

Seeded From UniProt

complete

involved_in

GO:0090090

negative regulation of canonical Wnt signaling pathway

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:Q7Z494

P

Seeded From UniProt

complete

involved_in

GO:0060271

cilium assembly

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:P0CI65

P

Seeded From UniProt

complete

part_of

GO:0005929

cilium

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:Q7Z494

C

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:1905515

non-motile cilium assembly

PMID:22832925[3]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

occurs_in:(CL:1000546)

Seeded From UniProt

complete

part_of

GO:0097546

ciliary base

PMID:20169535[4]

ECO:0000314

direct assay evidence used in manual assertion

C

part_of:(CL:0002518)

Seeded From UniProt

complete

part_of

GO:0097543

ciliary inversin compartment

PMID:20169535[4]

ECO:0000314

direct assay evidence used in manual assertion

C

part_of:(CL:0002518)

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0090090

negative regulation of canonical Wnt signaling pathway

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

UniProtKB:Q7Z494

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0072189

ureter development

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

UniProtKB:Q7Z494

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0071910

determination of liver left/right asymmetry

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

UniProtKB:Q7Z494

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0071909

determination of stomach left/right asymmetry

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

UniProtKB:Q7Z494

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0071908

determination of intestine left/right asymmetry

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

UniProtKB:Q7Z494

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0060993

kidney morphogenesis

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

UniProtKB:Q7Z494

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0060027

convergent extension involved in gastrulation

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

UniProtKB:Q7Z494

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0048496

maintenance of animal organ identity

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

UniProtKB:Q7Z494

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0045494

photoreceptor cell maintenance

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

UniProtKB:Q7Z494

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0035469

determination of pancreatic left/right asymmetry

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

UniProtKB:Q7Z494

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0030324

lung development

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

UniProtKB:Q7Z494

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0030198

extracellular matrix organization

PMID:7539536[5]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856987

P

occurs_in:(EMAPA:17373)

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0007368

determination of left/right symmetry

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

UniProtKB:Q7Z494

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0007163

establishment or maintenance of cell polarity

PMID:22832925[3]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

occurs_in:(CL:1000546)

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0006629

lipid metabolic process

PMID:1385849[6]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856987

P

Seeded From UniProt

complete

part_of

GO:0005929

cilium

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

UniProtKB:Q7Z494

C

Seeded From UniProt

complete

enables

GO:0003674

molecular_function

GO_REF:0000015

ECO:0000307

no biological data found used in manual assertion

F

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0003283

atrial septum development

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

UniProtKB:Q7Z494

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0001947

heart looping

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

UniProtKB:Q7Z494

P

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0001822

kidney development

PMID:24178445[7]

ECO:0000315

mutant phenotype evidence used in manual assertion

MGI:MGI:1856987

P

occurs_in:(EMAPA:17373)

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:0001822

kidney development

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

UniProtKB:Q7Z494

P

Seeded From UniProt

complete

part_of

GO:0005929

cilium

GO_REF:0000037
GO_REF:0000039

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0969
UniProtKB-SubCell:SL-0066

C

Seeded From UniProt

complete

part_of

GO:0042995

cell projection

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0966

C

Seeded From UniProt

complete

involved_in

GO:0016055

Wnt signaling pathway

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0879

P

Seeded From UniProt

complete

edit table

Notes

References

See Help:References for how to manage references in GONUTS.

  1. ↑ 1.0 1.1 1.2 Bergmann, C et al. (2008) Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia. Am. J. Hum. Genet. 82 959-70 PubMed GONUTS page
  2. ↑ Olbrich, H et al. (2003) Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis. Nat. Genet. 34 455-9 PubMed GONUTS page
  3. ↑ 3.0 3.1 Ghosh, AK et al. (2012) 3D spheroid defects in NPHP knockdown cells are rescued by the somatostatin receptor agonist octreotide. Am. J. Physiol. Renal Physiol. 303 F1225-9 PubMed GONUTS page
  4. ↑ 4.0 4.1 Shiba, D et al. (2010) Inv acts as a molecular anchor for Nphp3 and Nek8 in the proximal segment of primary cilia. Cytoskeleton (Hoboken) 67 112-9 PubMed GONUTS page
  5. ↑ Ebihara, I et al. () Altered extracellular matrix component gene expression in murine polycystic kidney. Ren. Physiol. Biochem. 18 73-80 PubMed GONUTS page
  6. ↑ Aukema, HM et al. (1992) Abnormal lipid and fatty acid compositions of kidneys from mice with polycystic kidney disease. Lipids 27 429-35 PubMed GONUTS page
  7. ↑ Yamaguchi, T et al. (2014) Renal cyclooxygenase products are higher and lipoxygenase products are lower in early disease in the pcy mouse model of adolescent nephronophthisis. Lipids 49 39-47 PubMed GONUTS page
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