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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
  • Alliance
    gene page
  • Transcription Start Sites
    11 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:30157740-30186648 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 7, 18.36 cM, cytoband A3
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    990 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1859637
 protein coding gene Chr7:30157259-30188048 (+)
129S1/SvImJ MGP_129S1SvImJ_G0032022
 protein coding gene Chr7:29453498-29483389 (+)
A/J MGP_AJ_G0031999
 protein coding gene Chr7:28662129-28689627 (+)
AKR/J MGP_AKRJ_G0031932
 protein coding gene Chr7:29392702-29421088 (+)
BALB/cJ MGP_BALBcJ_G0032006
 protein coding gene Chr7:28840551-28868609 (+)
C3H/HeJ MGP_C3HHeJ_G0031725
 protein coding gene Chr7:29838930-29875665 (+)
C57BL/6NJ MGP_C57BL6NJ_G0032472
 protein coding gene Chr7:30410930-30444855 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0029522
 protein coding gene Chr7:29697340-29727225 (+)
CAST/EiJ MGP_CASTEiJ_G0031059
 protein coding gene Chr7:23098353-23129979 (+)
CBA/J MGP_CBAJ_G0031691
 protein coding gene Chr7:31855215-31888952 (+)
DBA/2J MGP_DBA2J_G0031843
 protein coding gene Chr7:28391993-28420762 (+)
FVB/NJ MGP_FVBNJ_G0031800
 protein coding gene Chr7:28514570-28549317 (+)
LP/J MGP_LPJ_G0031924
 protein coding gene Chr7:29765662-29795833 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0031836
 protein coding gene Chr7:31106460-31136204 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0032500
 protein coding gene Chr7:28895162-28923948 (+)
PWK/PhJ MGP_PWKPhJ_G0030785
 protein coding gene Chr7:23429969-23458497 (+)
SPRET/EiJ MGP_SPRETEiJ_G0030618
 protein coding gene Chr7:19899558-19926815 (+)
WSB/EiJ MGP_WSBEiJ_G0031169
 protein coding gene Chr7:29281951-29316628 (+)



Homology
more
  • Human Ortholog
    NPHS1, NPHS1 adhesion molecule, nephrin
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    NPHS1, NPHS1 adhesion molecule, nephrin
  • Synonyms
    CNF, nephrin, NPHN
  • Links
    NCBI Gene ID: 4868
    neXtProt AC: NX_O60500
    UniProt: O60500

  • Chr Location
    19q13.12; chr19:35825372-35869287 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Nphs1 mouse models; 1 with human NPHS1 associations

Human Disease Mouse Models
      
IDs
 View 4 models
      
IDs
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
less
  • Phenotype Summary
    29 phenotypes from 5 alleles in 5 genetic backgrounds
    5 phenotypes from multigenic genotypes
    25 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
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
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
less
  • All GO Annotations
    45
  • GO References
    19
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    824
  • Tissues
    61
  • cDNA Data
    18
  • Literature Summary
    73
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000006649 Ensembl Gene Model | MGI Sequence Detail 28909 C57BL/6J ±  kb
    transcript ENSMUST00000006825 Ensembl | MGI Sequence Detail 4608 Not Applicable  
    polypeptide ENSMUSP00000006825 Ensembl | MGI Sequence Detail 1256 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 27
      cDNA 18
      Primer pair 9

      Microarray probesets 3
    References
    more
    • Summaries
      All 150
      Developmental Gene Expression 73
      Diseases 3
      Gene Ontology 19
      Phenotypes 25
    • 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:352476 Cunanan J, et al., Mice with a Pax2 missense variant display impaired glomerular repair. Am J Physiol Renal Physiol. 2024 May 1;326(5):F704-F726
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    10/29/2024
    MGI 6.24     		The Jackson Laboratory