Entity Details

Primary name NPHP1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionO15259
EntryNameNPHP1_HUMAN
FullNameNephrocystin-1
TaxID9606
Evidenceevidence at protein level
Length732
SequenceStatuscomplete
DateCreated2001-11-16
DateModified2021-06-02

Ontological Relatives

GenesNPHP1

GO terms

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GOName
GO:0005198 structural molecule activity
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005911 cell-cell junction
GO:0005912 adherens junction
GO:0005923 bicellular tight junction
GO:0005929 cilium
GO:0007165 signal transduction
GO:0007588 excretion
GO:0007632 visual behavior
GO:0016020 membrane
GO:0030030 cell projection organization
GO:0030036 actin cytoskeleton organization
GO:0031514 motile cilium
GO:0032391 photoreceptor connecting cilium
GO:0048515 spermatid differentiation
GO:0060041 retina development in camera-type eye
GO:0090251 protein localization involved in establishment of planar polarity
GO:0097711 ciliary basal body-plasma membrane docking
GO:0098609 cell-cell adhesion
GO:1903348 positive regulation of bicellular tight junction assembly

Subcellular Location

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Subcellular Location
Cell junction
Cell projection
Cytoplasm

Domains

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DomainNameCategoryType
IPR001452 SH3 domainDomainDomain
IPR030642 Nephrocystin-1, SH3 domainDomainDomain
IPR036028 SH3-like domain superfamilyFamilyHomologous superfamily
IPR039687 Nephrocystin-1FamilyFamily

Diseases

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Disease IDSourceNameDescription
266900 OMIMSenior-Loken syndrome 1 (SLSN1)A renal-retinal disorder characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease. Typically this disorder becomes apparent during the first year of life. The disease is caused by variants affecting the gene represented in this entry.
256100 OMIMNephronophthisis 1 (NPHP1)An autosomal recessive inherited disease characterized by anemia, polyuria, polydipsia, isosthenuria and death in uremia. Symmetrical destruction of the kidneys involving both tubules and glomeruli occurs. The underlying pathology is a chronic tubulo-interstitial nephropathy with characteristic tubular basement membrane thickening and medullary cyst formation. Associations with extrarenal symptoms, especially ocular lesions, are frequent. The age at death ranges from about 4 to 15 years. The disease is caused by variants affecting the gene represented in this entry.
609583 OMIMJoubert syndrome 4 (JBTS4)A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. Joubert syndrome type 4 is a phenotypically mild form. The disease is caused by variants affecting the gene represented in this entry.

Interactions

30 interactions

InteractorPartnerSourcesPublicationsLink
NPHP1_HUMANUBQL4_HUMANBioGRID, HPRD, IntAct16713569 details
NPHP1_HUMANADA15_HUMANBioGRID, HPRD, MINT, UniProt16374509 25825872 details
NPHP1_HUMANMED28_HUMANBioGRID, MINT16964398 details
NPHP1_HUMANASAP1_HUMANMINT16636290 details
NPHP1_HUMANPKD1_HUMANBioGRID, MINT20856870 details
NPHP1_HUMANSPAT7_HUMANIntAct29899041 details
NPHP1_HUMANADA12_HUMANUniProt25825872 details
NPHP1_HUMANADA19_HUMANUniProt25825872 details
NPHP1_HUMANFAK2_HUMANBioGRID, HPRD, IntAct11493697 21357692 details
NPHP1_HUMANFLNA_HUMANBioGRID, HPRD12006559 details
NPHP1_HUMANFLNB_HUMANBioGRID, HPRD12006559 details
NPHP1_HUMANBCAR1_HUMANBioGRID, HPRD10739664 11493697 18477472 details
NPHP1_HUMANKHDR1_HUMANBioGRID22745667 details
NPHP1_HUMANACK1_HUMANBioGRID18477472 21309750 details
NPHP1_HUMANRHG32_HUMANBioGRID18477472 details
NPHP1_HUMANFBX7_HUMANBioGRID27503909 details
NPHP1_HUMANFLNC_HUMANHPRD12006559 details
NPHP1_HUMANAHI1_HUMANUniProt23532844 details
NPHP1_HUMANFTM_HUMANBioGRID, IntAct26638075 27173435 unassigned1312 details
NPHP1_HUMANNPHP4_HUMANBioGRID, HPRD, IntAct, UniProt12244321 15661758 21357692 26638075 27173435 unassigned1312 details
NPHP1_HUMANRPGR_HUMANBioGRID, IntAct, UniProt20664800 28514442 details
NPHP1_HUMANRUVB1_HUMANMINT29959317 details
NPHP1_HUMANINVS_HUMANBioGRID, HPRD12872123 details
NPHP1_HUMANTBB5_HUMANBioGRID12872123 details
NPHP1_HUMANNPHP3_HUMANBioGRID, HPRD12872122 details
NPHP1_HUMANNPHP1_HUMANBioGRID, HPRD12006559 details
NPHP1_HUMANTENS1_HUMANBioGRID11493697 details
NPHP1_HUMANCE164_HUMANBioGRID22863007 details
NPHP1_HUMANTBB2A_HUMANHPRD12872123 details
NPHP1_HUMANPAK2_HUMANHPRD16374509 details