About   Help   FAQ
Nphp1
Gene Detail
 Symbol
Name
ID
Nphp1
nephronophthisis 1 (juvenile) homolog (human)
MGI:1858233
Synonyms nephrocystin
Feature Type protein coding gene
Genetic Map
Chromosome 2
62.09 cM, cytoband F3
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr2:127740732-127788897 bp, - strand
From VEGA annotation of GRCm38

  48166 bp   ±  kb flank

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


Mouse Genome Browser
Vertebrate
homology
HomoloGene:229  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Nphp1

Human
homologs
Human Homolog NPHP1, nephronophthisis 1 (juvenile)
NCBI Gene ID 4867
neXtProt AC  NX_O15259
Human Synonyms  JBTS4, NPH1, SLSN1
Human Chr (Location)  2q13; chr2:110123336-110205062 (-)  GRCh38
Disease Associations  (3) Diseases Associated with Human NPHP1
Mutations,
alleles, and
phenotypes
All mutations/alleles(10) : Gene trapped(4) Targeted(6)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygotes for a targeted null mutation exhibit male infertility due to defects in sperm maturation. Mice homozygous for another knock-out allele exhibit absent photoreceptor outer segment and photoreceptor degeneration.
 
Interactions
Nphp1 interacts with 42 markers (Mir9-1, Mir9-2, Mir9-3, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (20 annotations)
Process cell differentiation, cell projection organization, ...
Component cell-cell junction, cell junction, ...
Function protein binding
External Resources: FuncBase
Expression
Literature Summary: (5 records)
Data Summary: Results (53)    Tissues (48)    Images (5)
Theiler Stages: 17, 21, 28
Assay TypeResults
RNA in situ 51
Northern blot 2
cDNA source data(53)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(55) Genomic(1) cDNA(54)
Microarray probesets(5)
Other database
links
VEGA Gene ModelOTTMUSG00000016097 (Evidence)
Ensembl Gene ModelENSMUSG00000027378 (Evidence)
Entrez Gene53885 (Evidence)
UniGene210766
DFCITC1597905, TC1604996, TC1650097, TC1674563
DoTSDT.101385625, DT.488328, DT.97411676
NIA Mouse Gene IndexU023326
Consensus CDS ProjectCCDS16709.1, CCDS71140.1
International Mouse Knockout Project StatusNphp1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000016097 VEGA Gene Model | MGI Sequence Detail 48166 C57BL/6J ±  kb
transcript OTTMUST00000038456 VEGA | MGI Sequence Detail 2260 Not Applicable 
polypeptide OTTMUSP00000017218 VEGA | MGI Sequence Detail 691 Not Applicable 

For the selected sequences
All sequences(55) RefSeq(8) UniProt(9)
Polymorphisms SNPs within 2kb(419 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR001452 Src homology-3 domain
Protein Ontology PR:000011362 nephrocystin-1
References (Earliest) J:61551 Donaldson JC, et al., Crk-associated substrate p130(Cas) interacts with nephrocystin and both proteins localize to cell-cell contacts of polarized epithelial cells. Exp Cell Res. 2000 Apr 10;256(1):168-78
(Latest) J:205269 Cui C, et al., Wdpcp, a PCP protein required for ciliogenesis, regulates directional cell migration and cell polarity by direct modulation of the actin cytoskeleton. PLoS Biol. 2013 Nov;11(11):e1001720
All references(42)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
08/12/2014
MGI 5.19
The Jackson Laboratory