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Nphs1
Gene Detail
 Symbol
Name
ID
Nphs1
nephrosis 1, nephrin
MGI:1859637
Synonyms nephrin
Feature Type protein coding gene
Genetic Map
Chromosome 7
18.36 cM, cytoband A3
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr7:30458315-30487223 bp, + strand
From VEGA annotation of GRCm38

  28909 bp   ±  kb flank

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


Mouse Genome Browser
Vertebrate
homology
HomoloGene:20974  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 zebrafish

Gene Tree: Nphs1

Human
homologs
Human Homolog NPHS1, nephrosis 1, congenital, Finnish type (nephrin)
NCBI Gene ID 4868
neXtProt AC  NX_O60500
Human Synonyms  CNF, nephrin, NPHN
Human Chr (Location)  19q13.1; chr19:35825372-35851993 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human NPHS1
Mutations,
alleles, and
phenotypes
All mutations/alleles(48) : Gene trapped(44) Targeted(4)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygotes for a targeted null mutation exhibit severe proteinuria associated with kidney defects and die soon after birth. Heterozygotes exhibit fusion of one-third of glomerular foot processes.
 
Human Diseases Modeled Using Mouse Nphs1 (1)    Alleles Annotated to Human Diseases(3)   
Interactions
Nphs1 interacts with 106 markers (Mir10b, Mir15a, Mir20a, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (29 annotations)
Process cell adhesion, JNK cascade, ...
Component cell projection, extracellular vesicular exosome, ...
Function alpha-actinin binding, myosin binding, ...
External Resources: FuncBase
Expression
Literature Summary: (31 records)
Data Summary: Results (59)    Tissues (42)    Images (12)
Theiler Stages: 24, 26, 28
Assay TypeResults
Immunohistochemistry 13
RNA in situ 44
RT-PCR 2
cDNA source data(14)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(17) cDNA(14) Primer pair(2) Other(1)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000031081 (Evidence)
Ensembl Gene ModelENSMUSG00000006649 (Evidence)
Entrez Gene54631 (Evidence)
UniGene437830
DFCITC1589034, TC1619552
DoTSDT.101364897, DT.111010542, DT.87027792, DT.91335906
NIA Mouse Gene IndexU007930
Consensus CDS ProjectCCDS39884.1
International Mouse Knockout Project StatusNphs1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000031081 VEGA Gene Model | MGI Sequence Detail 28909 C57BL/6J ±  kb
transcript OTTMUST00000076995 VEGA | MGI Sequence Detail 4608 Not Applicable 
polypeptide OTTMUSP00000040603 VEGA | MGI Sequence Detail 1256 Not Applicable 

For the selected sequences
All sequences(44) RefSeq(6) UniProt(3)
Polymorphisms SNPs within 2kb(423 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR013162 CD80-like, immunoglobulin C2-set
InterPro IPR003961 Fibronectin, type III
InterPro IPR013098 Immunoglobulin I-set
InterPro IPR007110 Immunoglobulin-like domain
InterPro IPR013783 Immunoglobulin-like fold
InterPro IPR003599 Immunoglobulin subtype
InterPro IPR003598 Immunoglobulin subtype 2
InterPro IPR013106 Immunoglobulin V-set
Protein Ontology PR:000011365 nephrin
References (Earliest) J:62771 Holzman LB, et al., Nephrin localizes to the slit pore of the glomerular epithelial cell. Kidney Int. 1999 Oct;56(4):1481-91
(Latest) J:198192 Huang J, et al., The transcription factor Sry-related HMG box-4 (SOX4) is required for normal renal development in vivo. Dev Dyn. 2013 Jun;242(6):790-9
All references(76)
Disease annotation references (3)

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
08/12/2014
MGI 5.19
The Jackson Laboratory