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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
Chr7:30458313-30487223 bp, + strand
From VEGA annotation of GRCm38

  28911 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 western clawed frog; 1 zebrafish

HCOP human homology predictions: NPHS1
Gene Tree: Nphs1

Human
homologs
NPHS1, nephrosis 1, congenital, Finnish type (nephrin)
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 4868
neXtProt AC: NX_O60500

Human Synonyms: CNF, nephrin, NPHN

Human Chr (Location): 19q13.1; chr19:35825372-35851993 (-)  GRCh38.p2

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 , CvDC )
 
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 in Mice Using Nphs1 (1)    Mutations 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 exosome, ...
Function alpha-actinin binding, myosin binding, ...
External Resources: FuncBase
Expression
Literature Summary: (34 records)
Data Summary: Results (59)    Tissues (42)    Images (12)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 13
RNA in situ 44
RT-PCR 2
cDNA source data(14)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase nphs1 ; ZFIN nphs1    NEW 
Molecular
reagents
All nucleic(17) cDNA(14) Primer pair(2) Other(1)
Microarray probesets(3)
Other database
links
VEGA Gene Model OTTMUSG00000031081 (Evidence)
Ensembl Gene Model ENSMUSG00000006649 (Evidence)
Entrez Gene 54631 (Evidence)
UniGene 437830
DFCI TC1589034, TC1619552
DoTS DT.111010542, DT.87027792, DT.91335906, DT.101364897
NIA Mouse Gene Index U007930
Consensus CDS Project CCDS39884.1
International Mouse Phenotyping Consortium Status Nphs1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000031081 VEGA Gene Model | MGI Sequence Detail 28911 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:220461 Kann M, et al., WT1 targets Gas1 to maintain nephron progenitor cells by modulating FGF signals. Development. 2015 Apr 1;142(7):1254-66
All references(80)
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
06/23/2015
MGI 5.22
The Jackson Laboratory