Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol NPHP3 contributors: mct - updated : 26-06-2019
HGNC name nephronophthisis 3 (adolescent)
HGNC id 7907
RNA
TRANSCRIPTS type messenger
text multiple alternative trascripts
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
27 - 5348 - 1330 - 2017 28921755
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveesophagus   highly
Hearing/Equilibriumearinnercochlea highly
Nervousbraindiencephalonhypothalamus  
 nervecranial nerve  highly
Urinarykidney    
Visualeyelacrimal gland   
 eyeretina   
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialbarrier/liningepidermis  
Epithelialsecretoryglandular  
cells
SystemCellPubmedSpeciesStageRna symbol
Urinarytubular cell
Visualrod photoreceptor
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a coiled-coil (CC) domain
  • a tubulin-tyrosine ligase (TTL) domain,
  • a signal peptide
  • eleven tetratrico peptide repeat (TPR) domains
  • a STAND domain (signal transduction ATPases with numerous domains)
  • HOMOLOGY
    interspecies ortholog to murine Nphp3
    Homologene
    FAMILY kinesin light chain family
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    text cilia, retinal connecting cilia and primary cilia in ubular cells
    basic FUNCTION
  • kinesin light chain may be playing a role in organelle transport
  • the light chain may function in coupling of cargo to the heavy chain or in the modulation of its ATPase activity
  • playing a role in regulation of microtubules and in renal monocilia or in cell-cell and cell- matrix signaling
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development , electron transport
    text
  • playing a role in cilia funtion
  • PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • inversin
  • NPHP1
  • INVS is essential for the compartmental localization of NPHP3 and NEK8, whereas localization of INVS does not require NPHP3 or NEK8
  • ANKS6 is a new NPHP family member that connects NEK8 (NPHP9) to INVS (NPHP2) and NPHP3
  • UNC119 and PDED are acyl- and prenyl-binding proteins, respectively, involved in trafficking of acylated (transducin-alpha subunit, nephrocystin NPHP3) and prenylated protein
  • GNAT1, NPHP3, and PKD1 bind with high affinity to UNC119, whereas a peptide derived from a non-ciliary localizing protein (SRC) has low affinity
  • INVS and NPHP3 cooperate and promote ANKS6 phosphorylation by NEK8 in renal cilia
  • primary cilia formation could be regulated by TMSB4X through its interaction with NPHP3 and/or the control of NPHP3 expression
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) NPHP3 , SLSN3 , MKSL1
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS