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FLASH GENE
Symbol NPHP1 contributors: mct/shn/pgu - updated : 12-05-2014
HGNC name nephronophthisis 1 (juvenile)
HGNC id 7905
Corresponding disease
JBTS4 Joubert syndrome 4
NPHP1 nephronophthisis 1
SLSN1 Senior-Loken syndrome 1
Location 2q13      Physical location : 110.880.915 - 110.962.639
Synonym name nephrocystin-1
Synonym symbol(s) NPH1, JBTS4, FLJ97602
DNA
TYPE functioning gene
STRUCTURE 81.72 kb     20 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked   status confirmed
Map cen - D2S1893 - D2S1891 - NPHP1 NPHP1 - D2S1888 - D2S1892 - qter
Physical map
SLC5A7 2q12 solute carrier family 5 (choline transporter), member 7 LOC391418 2 similar to phenol sulfotransferase SULT1C1 2q11.1-q11.2 sulfotransferase family, cytosolic, 1C, member 1 LOC391419 2 similar to sulfotransferase 1C SULT1C2 2q11.2 sulfotransferase family, cytosolic, 1C, member 2 GCC2 2q12-q13 GRIP and coiled-coil domain-containing 2 MGC10701 2q12.3 hypothetical protein MGC10701 LIMS1 2q12 LIM and senescent cell antigen-like domains 1 LOC391420 2 similar to 60S ribosomal protein L10 (QM protein) (Tumor suppressor QM) (Laminin receptor homolog) RANBP2 2q11-q13 RAN binding protein 2 FLJ32745 2q12.3 hypothetical protein FLJ32745 EDAR 2q11-q13 ectodysplasin 1, anhidrotic receptor LOC389019 2 LOC389019 FLJ20019 2q13 hypothetical protein FLJ20019 FLJ00204 2q13 FLJ00204 protein SEPT10 2q13 septin 10 FLJ21870 2q13 hypothetical protein FLJ21870 LOC391421 2 similar to Ribosome biogenesis protein BMS1 homolog LOC391422 2 similar to ribosomal protein L22 RANBP2L1 2q12.3 RAN binding protein 2-like 1 LOC339692 2q13 hypothetical protein LOC339692 GPAA1P1 2q12-q14 glycosylphosphatidylinositol anchor attachment 1 pseudogene 1 LOC391423 2 similar to zinc finger protein 499 LOC343938 2q13 similar to zinc finger protein BENE 2q13 BENE protein NPHP1 2q12-q13 nephronophthisis 1 (juvenile) LOC205251 2q13 hypothetical protein LOC205251 FLJ38359 2q13 hypothetical protein FLJ38359 LOC96626 2q14-q21 pinch-2 LOC391424 2 similar to ribosomal protein L22 LOC391425 2 similar to heparin-binding protein HBp15 BUB1 2q14 BUB1 budding uninhibited by benzimidazoles 1 homolog (yeast) LOC339693 2q13 hypothetical LOC339693 FLJ11042 2q13 hypothetical protein FLJ11042 BCL2L11 2q13 BCL2-like 11 (apoptosis facilitator) LOC391426 2 similar to ENSANGP00000004103 ANAPC1 2q12.1 anaphase-promoting complex 1 (meiotic checkpoint regulator) MERTK 2q14.1 c-mer proto-oncogene tyrosine kinase FLJ14681 2q13 hypothetical protein FLJ14681 FLJ37440 2q13 hypothetical protein FLJ37440
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
20 - 2758 - 733 - 2008 18477472
20 - 2755 - 732 - 2008 18477472
18 - 2401 - 614 - 2008 18477472
20 - 2590 - 677 - 2008 18477472
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Endocrineneuroendocrinepituitary  highly
Nervousbrain   highly Homo sapiens
Urinarykidneytubulecollecting duct highly Homo sapiens
Visualeyeretina    Homo sapiens
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connectivebone   
Muscularstriatumskeletal  
cells
SystemCellPubmedSpeciesStageRna symbol
Urinarytubular cell
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • SRC homology domain 3 (SH3) sequence
  • multiple putative protein-protein interaction domains such as coiled coil domains
  • a nephrocystin homology domain (NHD) comprising the conserved C-terminal two-thirds of the protein
  • HOMOLOGY
    Homologene
    FAMILY
  • immunoglobulin superfamily
  • nephrocystin-1 family
  • CATEGORY adaptor
    SUBCELLULAR LOCALIZATION     plasma membrane,junction,tight
    plasma membrane,junction,adherens
        intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    text
  • located at connecting cilium axoneme
  • PLK1 colocalizes with NPHP1 to the transition zone of primary cilia in epithelial cells
  • basic FUNCTION
  • may be playing a role in the control of epithelial cell polarity
  • adaptor protein involved in cytoskeleton organization and cell adhesion regulation
  • may also participate in intraflagellar transport pathways in photoreceptor cells
  • playing an important role in epithelial cell organization
  • may participate along with the Par polarity complex in microtubule-dependent transport during ciliogenesis
  • role in epithelial polarity and formation of TJs potentially via their association with polarity proteins MPP5 and PARD6A and PARD6B
  • having a role in basal body anchoring and establishing a ciliary gate during ciliogenesis
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • may be a constituent of tubular basal membrane flanked by two large inverted repeats of ~330 kb with a 45 kb sequence located adjacent to the proximal large repeat and a direct 45 kb repeat inserted in the distal large repeat
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • NPHP4, NPHP3, INVS
  • interacting with BCAR1, PTK2B, tensin and filamin
  • interacting with TNK2 (implicating cell
  • /cell junctions and the renal collecting duct in the pathology of nephronophthisis)
  • interacting with NPHS1 and PARD3 (interaction mediated through the PDZ domain of PARD3 and conserved carboxyl terminal residues in NPHP1 and NPHS1, and essential for establishing the three-dimensional architecture of podocytes at the kidney filtration barrier)
  • TNK2 is a novel interaction partner of nephrocystin-1 and implicate cell-cell junctions and the renal collecting duct in the pathology of nephronophthisis
  • interaction between the PKD1 polyproline motif and the NPHP1 SH3 domain
  • NPHP1 and nephrocystin-4 (NPHP4) interact and NPHP4 negatively regulates tyrosine phosphorylation of NPHP1
  • interaction of NPHP1/PACS1 is negatively regulated by NPHP4
  • JADE1 colocalizes with NPHP1 at the transition zone of primary cilia and interacts with NPHP4
  • interacts genetically with AHI1
  • cell & other
    REGULATION
    Phosphorylated by PLK1, that phosphorylates the NPHP1 N-terminus, which includes the specific PLK1 phosphorylation motif
    ASSOCIATED DISORDERS
    corresponding disease(s) NPHP1 , SLSN1 , JBTS4
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   deletion    
    in any cases of Joubert syndrome
    Susceptibility to Bardet-Biedl Syndrome
    Variant & Polymorphism other
  • SNV in NPHP1 resulting in a conserved missense change, associated with Bardet-Biedl Syndrome
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Nphp1-targeted mutant mice display ramatic degeneration of the outer and inner segments as well as of nuclei at the outer nuclear layer (ONL) of the photoreceptor cells