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Nphp1 Gene Detail
Summary
  • Symbol
    Nphp1
  • Name
    nephronophthisis 1 (juvenile) homolog (human)
  • Synonyms
    nephrocystin
  • Feature Type
    protein coding gene
  • IDs
    MGI:1858233
    NCBI Gene: 53885
  • Gene Overview
    MyGene.info: NPHP1
Location & Maps
more
  • Sequence Map
    Chr2:127740732-127788897 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      48166 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 2, 62.09 cM, cytoband F3
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    NPHP1, nephrocystin 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    NPHP1, nephrocystin 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    JBTS4, NPH1, SLSN1
  • Links
    NCBI Gene ID: 4867
    neXtProt AC: NX_O15259

  • Chr Location
    2q13; chr2:110123336-110205062 (-)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 229
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: NPHP1
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Nphp1 mouse models; 3 with human NPHP1 associations

Human Disease Mouse Models
       Nephronophthisis 1; NPHP1   OMIM: 256100 View 1 "NOT" model
       Joubert Syndrome 4; JBTS4   OMIM: 609583
Senior-Loken Syndrome 1; SLSN1   OMIM: 266900
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    12 phenotypes from 3 alleles in 3 genetic backgrounds
    1 phenotype from multigenic genotypes
    15 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.
  • All Mutations and Alleles
    13
  • Chemically induced (other)
    1
  • Gene trapped
    4
  • Radiation induced
    1
  • Targeted
    7
  • Genomic Mutations
    2 involving Nphp1
  • Incidental Mutations
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.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
Molecular Function

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

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
less
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 sequence
Polymorphisms
less
  • SNPs within 2kb
    412 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 55
    Genomic 1
    cDNA 54

    Microarray probesets 5
References
more
  • Summaries
    All 44
    Developmental Gene Expression 5
    Diseases 1
    Gene Ontology 13
    Phenotypes 15
  • 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:231702 Yee LE, et al., Conserved Genetic Interactions between Ciliopathy Complexes Cooperatively Support Ciliogenesis and Ciliary Signaling. PLoS Genet. 2015 Nov;11(11):e1005627

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
11/29/2016
MGI 6.06
The Jackson Laboratory