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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
Chr9:104002544-104153483 bp, + strand
From VEGA annotation of GRCm38

  150940 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

HCOP human homology predictions: NPHP3
Gene Tree: Nphp3

Human
homologs
NPHP3, nephronophthisis 3 (adolescent)
Orthology source: HomoloGene

IDs:
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.p2

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 in Mice Using Nphp3 (1)    Mutations Annotated to Human Diseases (2)   
Interactions
Nphp3 interacts with 355 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)    Tissue x Stage Matrix (view)
Assay TypeResults
Western blot 3
cDNA source data(25)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase nphp3    NEW 
Molecular
reagents
All nucleic(25) cDNA(25)
Microarray probesets(4)
Other database
links
VEGA Gene Model OTTMUSG00000031730 (Evidence)
Ensembl Gene Model ENSMUSG00000032558 (Evidence)
Entrez Gene 74025 (Evidence)
UniGene 479273
DoTS DT.60103446, DT.101132155, DT.91423749, DT.97405904
Consensus CDS Project CCDS40749.1
International Mouse Phenotyping Consortium Status Nphp3
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000031730 VEGA Gene Model | MGI Sequence Detail 150940 C57BL/6J ±  kb
transcript OTTMUST00000078589 VEGA | MGI Sequence Detail 5899 Not Applicable 
polypeptide OTTMUSP00000041811 VEGA | MGI Sequence Detail 1325 Not Applicable 

For the selected sequences
All sequences(56) RefSeq(4) UniProt(6)
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(55)
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
07/28/2015
MGI 5.22
The Jackson Laboratory