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Nphs1 Gene Detail
Summary
  • Symbol
    Nphs1
  • Name
    nephrosis 1, nephrin
  • Synonyms
    nephrin
  • Feature Type
    protein coding gene
  • IDs
    MGI:1859637
    NCBI Gene: 54631
  • Gene Overview
    MyGene.info: NPHS1
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr7:30458315-30487223 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      28909 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 7, 18.36 cM, cytoband A3
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    NPHS1, NPHS1, nephrin
  • Vertebrate Orthologs
    9
  • Human Ortholog
    NPHS1, NPHS1, nephrin
    Orthology source: HomoloGene, HGNC
  • Synonyms
    CNF, nephrin, NPHN
  • Links
    NCBI Gene ID: 4868
    neXtProt AC: NX_O60500
    UniProt: O60500

  • Chr Location
    19q13.12; chr19:35825372-35851993 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Nphs1 mouse models

Human Disease Mouse Models
      
IDs
View 4 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    26 phenotypes from 4 alleles in 4 genetic backgrounds
    19 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    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 sequence
    Polymorphisms
    less
    • SNPs within 2kb
      405 from dbSNP Build 142
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 17
      cDNA 15
      Primer pair 2

      Microarray probesets 3
    References
    more
    • Summaries
      All 106
      Developmental Gene Expression 45
      Diseases 3
      Gene Ontology 12
      Phenotypes 19
    • 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:262952 Verma R, et al., Nephrin is necessary for podocyte recovery following injury in an adult mature glomerulus. PLoS One. 2018;13(6):e0198013

    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
    07/31/2018
    MGI 6.12
    The Jackson Laboratory