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MOUSE:NPHP1

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Species (Taxon ID) Mus musculus (Mouse). (10090)
Gene Name(s) Nphp1 (synonyms: Nph1)
Protein Name(s) Nephrocystin-1
External Links
UniProt Q9QY53
EMBL AF127180
AF176210
AJ243223
AK009252
RefSeq NP_058598.1
UniGene Mm.210766
ProteinModelPortal Q9QY53
SMR Q9QY53
BioGrid 207511
IntAct Q9QY53
PhosphoSite Q9QY53
PaxDb Q9QY53
PRIDE Q9QY53
GeneID 53885
KEGG mmu:53885
CTD 4867
MGI MGI:1858233
eggNOG NOG85120
HOVERGEN HBG019088
InParanoid Q9QY53
NextBio 310767
PRO PR:Q9QY53
Proteomes UP000000589
Bgee Q9QY53
CleanEx MM_NPHP1
ExpressionAtlas Q9QY53
Genevestigator Q9QY53
GO GO:0005912
GO:0005911
GO:0097546
GO:0035869
GO:0005737
GO:0005856
GO:0031514
GO:0032391
GO:0005923
GO:0030030
GO:0034613
GO:0035845
GO:0060041
GO:0048515
InterPro IPR001452
Pfam PF00018
PRINTS PR00452
SMART SM00326
SUPFAM SSF50044
PROSITE PS50002

Annotations

Qualifier GO ID GO term name Reference ECO ID ECO term name with/from Aspect Extension Notes Status
GO:0005737

cytoplasm

PMID:21565611[1]

ECO:0000314

C

Figure 3 A shows that NPHP1 localizes diffusely in the cytoplasm

complete
CACAO 7565

GO:0035869

ciliary transition zone

PMID:21565611[1]

ECO:0000314

C

Figure 3A shows that NPHP1 is localized to the ciliary transition zone

complete
CACAO 7601

part_of

GO:0035869

ciliary transition zone

PMID:21565611[1]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0005737

cytoplasm

PMID:21565611[1]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

involved_in

GO:0060041

retina development in camera-type eye

PMID:19208653[2]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0048515

spermatid differentiation

PMID:18684731[3]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0035845

photoreceptor cell outer segment organization

PMID:20081859[4]

ECO:0000316

genetic interaction evidence used in manual assertion

UniProtKB:Q8K3E5

P

Seeded From UniProt

complete

involved_in

GO:0034613

cellular protein localization

PMID:20081859[4]

ECO:0000316

genetic interaction evidence used in manual assertion

UniProtKB:Q8K3E5

P

has_input:(UniProtKB:P15409)

Seeded From UniProt

complete

part_of

GO:0032391

photoreceptor connecting cilium

PMID:16885411[5]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0031514

motile cilium

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:O15259

C

Seeded From UniProt

complete

involved_in

GO:0030030

cell projection organization

PMID:19208653[2]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

part_of

GO:0005911

cell-cell junction

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:O15259

C

Seeded From UniProt

complete

acts_upstream_of_or_within

GO:1903348

positive regulation of bicellular tight junction assembly

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

UniProtKB:O15259

P

Seeded From UniProt

complete

part_of

GO:0097546

ciliary base

PMID:20169535[6]

ECO:0000314

direct assay evidence used in manual assertion

C

part_of:(CL:0002518)

Seeded From UniProt

complete

part_of

GO:0035869

ciliary transition zone

PMID:24302887[7]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0035869

ciliary transition zone

PMID:20169535[6]

ECO:0000314

direct assay evidence used in manual assertion

C

part_of:(CL:0002518)

Seeded From UniProt

complete

part_of

GO:0031514

motile cilium

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

UniProtKB:O15259

C

Seeded From UniProt

complete

part_of

GO:0005911

cell-cell junction

GO_REF:0000096

ECO:0000266

sequence orthology evidence used in manual assertion

UniProtKB:O15259

C

Seeded From UniProt

complete

part_of

GO:0035869

ciliary transition zone

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR039687

C

Seeded From UniProt

complete

part_of

GO:0005923

bicellular tight junction

GO_REF:0000037
GO_REF:0000039

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0796
UniProtKB-SubCell:SL-0265

C

Seeded From UniProt

complete

part_of

GO:0005856

cytoskeleton

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0206

C

Seeded From UniProt

complete

involved_in

GO:0007283

spermatogenesis

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0744

P

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

part_of

GO:0030054

cell junction

GO_REF:0000037
GO_REF:0000039

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0965
UniProtKB-SubCell:SL-0038

C

Seeded From UniProt

complete

involved_in

GO:0030030

cell projection organization

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0970

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:0005737

cytoplasm

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0963

C

Seeded From UniProt

complete

involved_in

GO:0030154

cell differentiation

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0221

P

Seeded From UniProt

complete

part_of

GO:0005912

adherens junction

GO_REF:0000039

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-SubCell:SL-0009

C

Seeded From UniProt

complete

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Notes

References

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

  1. ↑ 1.0 1.1 1.2 1.3 Sang, L et al. (2011) Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. Cell 145 513-28 PubMed GONUTS page
  2. ↑ 2.0 2.1 Jiang, ST et al. (2009) Essential role of nephrocystin in photoreceptor intraflagellar transport in mouse. Hum. Mol. Genet. 18 1566-77 PubMed GONUTS page
  3. ↑ Jiang, ST et al. (2008) Targeted disruption of Nphp1 causes male infertility due to defects in the later steps of sperm morphogenesis in mice. Hum. Mol. Genet. 17 3368-79 PubMed GONUTS page
  4. ↑ 4.0 4.1 Louie, CM et al. (2010) AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis. Nat. Genet. 42 175-80 PubMed GONUTS page
  5. ↑ Fliegauf, M et al. (2006) Nephrocystin specifically localizes to the transition zone of renal and respiratory cilia and photoreceptor connecting cilia. J. Am. Soc. Nephrol. 17 2424-33 PubMed GONUTS page
  6. ↑ 6.0 6.1 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
  7. ↑ Cui, C et al. (2013) Wdpcp, a PCP protein required for ciliogenesis, regulates directional cell migration and cell polarity by direct modulation of the actin cytoskeleton. PLoS Biol. 11 e1001720 PubMed GONUTS page
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