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FLASH GENE
Symbol NPHP3 contributors: mct - updated : 26-06-2019
HGNC name nephronophthisis 3 (adolescent)
HGNC id 7907
Corresponding disease
MKSL1 Meckel -like syndrome 1
NPHP3 nephronophthisis 3
SLSN3 Senior-Loken syndrome 3
Location 3q22.1      Physical location : 132.399.453 - 132.441.276
Synonym name nephrocystin 3
Synonym symbol(s) NPH3, FLJ30691, FLJ36696, KIAA2000, CFAP31, MKS7, RHPD, RHPD1, SLSN3, MGC78666, DKFZp667K242,
DNA
TYPE functioning gene
STRUCTURE 41.80 kb     27 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
Physical map
PIK3R4 3q22.1 phosphoinositide-3-kinase, regulatory subunit 4, p150 GSTO3P1 3q22.1 glutathione S-transferase omega 3 pseudogene 1 ATP2C1 3q21 ATPase, Ca++ transporting, type 2C, member 1 HT001 3q22.1 HT001 protein NEK11 3q21.3 NIMA (never in mitosis gene a)- related kinase 11 LOC152195 3q22.1 hypothetical protein LOC152195 LOC389149 3 LOC389149 FLJ31265 3q22.1 hypothetical protein FLJ31265 MRPL3 3q21.2-q23 mitochondrial ribosomal protein L3 CPNE4 3q22.1 copine IV LOC344568 3q22.1 similar to proteasome (prosome, macropain) 26S subunit, ATPase 2; Proteasome (prosome, macropain) 26S subunit, ATPase LOC391577 3 similar to ribosomal protein L7 ACPP 3q21.3-q23 acid phosphatase, prostate LOC131039 3q22.1 similar to Saccharomyces cerevisiae Nip7p homolog RME8 3q22.1 RME8 protein FLJ12592 3q22.1 putative acyl-CoA dehydrogenase CCRL1 3q22 chemokine (C-C motif) receptor-like 1 UBE1DC1 3q22 ubiquitin-activating enzyme E1-domain containing 1 NPHP3 3q22.1 nephronophthisis 3 (adolescent) MGC3040 3q21 hypothetical protein MGC3040 BFSP2 3q21.2q22.3 beaded filament structural protein 2, phakinin MGC2848 3q22.1 hypothetical protein MGC2848 LOC391578 3 similar to MAF1 homolog; MAF1 homolog (yeast) H41 3q22.1 hypothetical protein H41 TOPBP1 3q22.1 topoisomerase (DNA) II binding protein LOC391579 3 similar to RIKEN cDNA 1300017J02 TF 3q21 transferrin PRO2086 3q22.1 PRO2086 protein APMCF1 3q22.1 PRO2086 protein RAB6B 3q22.2 RAB6B, member RAS oncogene family FLJ22173 3q22.1 hypothetical protein FLJ22173 SLCO2A1 3q21 solute carrier organic anion transporter family, member 2A1 RYK 3q22 RYK receptor-like tyrosine kinase AMOTL2 3q21-q22 angiomotin like 2 DKFZP566D193 3q22.1 DKFZP566D193 protein FLJ13386 3q22.1 hypothetical protein FLJ13386 FLJ33207 3q22.1 hypothetical protein FLJ33207
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