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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
  • Alliance
    gene page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:127582652-127630817 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 62.09 cM, cytoband F3
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1561 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1858233
 protein coding gene Chr2:127582652-127630833 (-)
129S1/SvImJ MGP_129S1SvImJ_G0026467
 protein coding gene Chr2:131027067-131079518 (-)
A/J MGP_AJ_G0026431
 protein coding gene Chr2:125728582-125777791 (-)
AKR/J MGP_AKRJ_G0026406
 protein coding gene Chr2:129327461-129378767 (-)
BALB/cJ MGP_BALBcJ_G0026443
 protein coding gene Chr2:125995531-126044197 (-)
C3H/HeJ MGP_C3HHeJ_G0026186
 protein coding gene Chr2:129825007-129874941 (-)
C57BL/6NJ MGP_C57BL6NJ_G0026888
 protein coding gene Chr2:135143177-135194342 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0024265
 protein coding gene Chr2:120566141-120615795 (-)
CAST/EiJ MGP_CASTEiJ_G0025647
 protein coding gene Chr2:130034624-130085401 (-)
CBA/J MGP_CBAJ_G0026166
 protein coding gene Chr2:140155297-140207317 (-)
DBA/2J MGP_DBA2J_G0026300
 protein coding gene Chr2:125129804-125177210 (-)
FVB/NJ MGP_FVBNJ_G0026264
 protein coding gene Chr2:123786391-123836451 (-)
LP/J MGP_LPJ_G0026405
 protein coding gene Chr2:131280463-131331668 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0026284
 protein coding gene Chr2:144160668-144213689 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0026943
 protein coding gene Chr2:129338509-129388600 (-)
PWK/PhJ MGP_PWKPhJ_G0025383
 protein coding gene Chr2:124689149-124744547 (-)
SPRET/EiJ MGP_SPRETEiJ_G0025185
 protein coding gene Chr2:128427166-128480337 (-)
WSB/EiJ MGP_WSBEiJ_G0025721
 protein coding gene Chr2:130242592-130294799 (-)



Homology
more
  • Human Ortholog
    NPHP1, nephrocystin 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    NPHP1, nephrocystin 1
  • Synonyms
    JBTS4, NPH1, SLSN1
  • Links
    NCBI Gene ID: 4867
    neXtProt AC: NX_O15259
    UniProt: O15259

  • Chr Location
    2q13; chr2:110122311-110205066 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Nphp1 mouse models; 5 with human NPHP1 associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    34 phenotypes from 4 alleles in 4 genetic backgrounds
    1 phenotype from multigenic genotypes
    23 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 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
    29
  • GO References
    17
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
membraneless 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
    789
  • Tissues
    64
  • cDNA Data
    53
  • Literature Summary
    8
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000027378 Ensembl Gene Model | MGI Sequence Detail 48166 C57BL/6J ±  kb
    transcript ENSMUST00000028857 Ensembl | MGI Sequence Detail 2260 Not Applicable  
    polypeptide ENSMUSP00000028857 Ensembl | MGI Sequence Detail 691 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 57
      Genomic 2
      cDNA 54
      Primer pair 1

      Microarray probesets 5
    References
    more
    • Summaries
      All 63
      Developmental Gene Expression 8
      Diseases 2
      Gene Ontology 17
      Phenotypes 23
    • Earliest
      J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
    • Latest
      J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    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)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory