AutismKB 2.0

Annotation Details for NPHP1


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Basic Information Top
Gene Symbol:NPHP1 ( FLJ97602,JBTS4,NPH1,SLSN1 )
Gene Full Name: nephronophthisis 1 (juvenile)
Band: 2q13
Quick LinksEntrez ID:4867; OMIM: 607100; Uniprot ID:NPHP1_HUMAN; ENSEMBL ID: ENSG00000144061; HGNC ID: 7905
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005829TAS-cytosol-
GO:0005856IEA-cytoskeleton-
GO:0005911IDA-cell-cell junction21565611
GO:0005912IEA-adherens junction-
GO:0005923IEA-bicellular tight junction-
GO:0016020NAS-membrane10665934
GO:0031514IDA-motile cilium16885411
GO:0032391ISS-photoreceptor connecting cilium-
GO ID Evidence Qualifier GO_term References
GO:0005198NAS-structural molecule activity12006559
GO:0005515IPI-protein binding12244321
GO ID Evidence Qualifier GO_term References
GO:0007165NAS-signal transduction12244321
GO:0007588TAS-excretion9361039
GO:0007632NAS-visual behavior12205563
GO:0016337NAS-single organismal cell-cell adhesion12006559
GO:0030030ISS-cell projection organization-
GO:0030036NAS-actin cytoskeleton organization12006559
GO:0048515ISS-spermatid differentiation-
GO:0060041ISS-retina development in camera-type eye-
GO:0097711TAS-ciliary basal body docking-
GO:1903348IMP-positive regulation of bicellular tight junction assembly19755384
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
NPHP1PTK2B11092711493697 Affinity Capture-Western; Reconstituted Complex
NPHP1PTK2B10848011493697 Affinity Capture-Western; Reconstituted Complex
NPHP1FLNA11092712006559 Affinity Capture-Western; Two-hybrid
NPHP1FLNA10860512006559 Affinity Capture-Western; Two-hybrid
NPHP1FLNB11092712006559 Two-hybrid
NPHP1FLNB10860612006559 Two-hybrid
BCAR1NPHP111092710739664 11493697 Affinity Capture-Western; Two-hybrid
BCAR1NPHP111493410739664 11493697 Affinity Capture-Western; Two-hybrid
TNS1NPHP111092711493697 Affinity Capture-Western
TNS1NPHP111299911493697 Affinity Capture-Western
NPHP1NPHP111092712006559 Affinity Capture-Western
NPHP4NPHP111092712244321 Affinity Capture-Western
NPHP4NPHP112928612244321 Affinity Capture-Western
NPHP3NPHP111092712872122 Affinity Capture-Western
NPHP3NPHP111796212872122 Affinity Capture-Western
TUBBNPHP111092712872123 Affinity Capture-Western
TUBBNPHP112844412872123 Affinity Capture-Western
INVSNPHP111092712872123 Affinity Capture-Western
INVSNPHP111802112872123 Affinity Capture-Western
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1858233
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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