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Nphp3
Gene Detail
 Symbol
Name
ID
Nphp3
nephronophthisis 3 (adolescent)
MGI:1921275
Synonyms 3632410F03Rik, D330020E01Rik, nephrocystin 3, pcy
Feature Type protein coding gene
Genetic Map
Chromosome 9
56.11 cM
Detailed Genetic Map ± 1 cM


Mapping data(9)
Sequence Map
Chr9:104002654-104153483 bp, + strand
From VEGA annotation of GRCm38

  150830 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:32697  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Gene Tree: Nphp3

Human
homologs
Human Homolog NPHP3, nephronophthisis 3 (adolescent)
NCBI Gene ID 27031
neXtProt AC  NX_Q7Z494
Human Synonyms  CFAP31, MKS7, NPH3, RHPD, RHPD1, SLSN3
Human Chr (Location)  3q22.1; chr3:132680609-132722459 (-)  GRCh38
Disease Associations  (2) Diseases Associated with Human NPHP3
Mutations,
alleles, and
phenotypes
All mutations/alleles(4) : Chemically induced (ENU)(1) Gene trapped(1) Spontaneous(1) Targeted(1)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygous hypomorphic mice display slowly progressing kidney cysts, enlarged kidneys, increased blood urea nitrogen, kidney inflammation and associated fibrosis, and premature death. Homozygous null mice display mid gestational lethality with partial penetrance of situs inversus.
 
Human Diseases Modeled Using Mouse Nphp3 (1)    Alleles Annotated to Human Diseases(2)   
Interactions
Nphp3 interacts with 356 markers (Mir1a-1, Mir1a-2, Mir7-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (30 annotations)
Process atrial septum development, cilium morphogenesis, ...
Component cell projection, ciliary base, ...
Function molecular_function
External Resources: FuncBase
Expression
Literature Summary: (3 records)
Data Summary: Results (3)    Tissues (1)   
Theiler Stages: 20
Assay TypeResults
Western blot 3
cDNA source data(25)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(25) cDNA(25)
Microarray probesets(4)
Other database
links
VEGA Gene ModelOTTMUSG00000049657 (Evidence)
Ensembl Gene ModelENSMUSG00000032558 (Evidence)
Entrez Gene74025 (Evidence)
UniGene479273
DoTSDT.101132155, DT.60103446, DT.91423749, DT.97405904
Consensus CDS ProjectCCDS40749.1
International Mouse Knockout Project StatusNphp3
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000049657 VEGA Gene Model | MGI Sequence Detail 150830 C57BL/6J ±  kb
transcript OTTMUST00000126505 VEGA | MGI Sequence Detail 4331 Not Applicable 
polypeptide OTTMUSP00000068396 VEGA | MGI Sequence Detail 1205 Not Applicable 

For the selected sequences
All sequences(39) RefSeq(4) UniProt(5)
Polymorphisms SNPs within 2kb(1312 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR027417 P-loop containing nucleoside triphosphate hydrolase
InterPro IPR011009 Protein kinase-like domain
InterPro IPR011990 Tetratricopeptide-like helical
InterPro IPR019734 Tetratricopeptide repeat
InterPro IPR013026 Tetratricopeptide repeat-containing domain
Protein Ontology PR:000011363 nephrocystin-3
References (Earliest) J:8302 Takahashi H, et al., A new mouse model of genetically transmitted polycystic kidney disease. J Urol. 1986 Jun;135(6):1280-3
(Latest) J:211661 Galarreta CI, et al., Tubular obstruction leads to progressive proximal tubular injury and atubular glomeruli in polycystic kidney disease. Am J Pathol. 2014 Jul;184(7):1957-66
All references(57)
Disease annotation references (3)
Other
accession IDs
MGD-MRK-13202, MGI:2143088, MGI:2442457, MGI:97521

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
09/16/2014
MGI 5.19
The Jackson Laboratory