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Nup50 Gene Detail
Summary
  • Symbol
    Nup50
  • Name
    nucleoporin 50
  • Synonyms
    1700030K07Rik, Npap60
  • Feature Type
    protein coding gene
  • IDs
    MGI:1351502
    NCBI Gene: 18141
  • Alliance
    genome feature page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr15:84807612-84827164 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 15, 40.25 cM
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    629 from dbSNP Build 142
  • Strain Annotations
    19
  • PCR
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1351502
 protein coding gene Chr15:84800100-84827164 (+)
129S1/SvImJ ENSMUSG00200035432
 protein coding gene Chr15:81928049-81947605 (+)
A/J ENSMUSG00195018097
 protein coding gene Chr15:81854379-81873937 (+)
AKR/J ENSMUSG00220025790
 protein coding gene Chr15:81908621-81928186 (+)
BALB/cJ ENSMUSG00180014910
 protein coding gene Chr15:81731164-81750720 (+)
C3H/HeJ ENSMUSG00175026789
 protein coding gene Chr15:82042044-82061596 (+)
C57BL/6NJ ENSMUSG00215023508
 protein coding gene Chr15:81826449-81846000 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0020119
 protein coding gene Chr15:78924321-78943951 (+)
CAST/EiJ ENSTCUG00005026955
 protein coding gene Chr15:81325898-81345508 (+)
CBA/J ENSMUSG00210013063
 protein coding gene Chr15:81816946-81836502 (+)
DBA/2J ENSMUSG00185020882
 protein coding gene Chr15:81853207-81872994 (+)
FVB/NJ ENSMUSG00205023062
 protein coding gene Chr15:81604122-81623679 (+)
JF1/MsJ ENSUMUG00000019285
 protein coding gene Chr15:81380296-81399883 (+)
LP/J ENSMUSG00230044161
 protein coding gene Chr15:85168269-85187825 (+)
NOD/ShiLtJ ENSMUSG00190024156
 protein coding gene Chr15:81841527-81861084 (+)
NZO/HlLtJ ENSMUSG00225048837
 protein coding gene Chr15:85505956-85525515 (+)
PWK/PhJ ENSLUMG00010028347
 protein coding gene Chr15:81587698-81607279 (+)
SPRET/EiJ ENSMSPG00010012631
 protein coding gene Chr15:83239103-83258875 (+)
WSB/EiJ ENSIUOG00005010157
 protein coding gene Chr15:81918367-81937928 (+)



Homology
more
  • Human Ortholog
    NUP50, nucleoporin 50
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    NUP50, nucleoporin 50
  • Synonyms
    NPAP60, NPAP60L
  • Links
    NCBI Gene ID: 10762
    UniProt: Q9UKX7

  • Chr Location
    22q13.31; chr22:45163925-45188017 (+)  GRCh38
Human Diseases
less
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    4 phenotypes from 1 allele in 1 genetic background
    31 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.
Mice homozygous for a targeted null mutation die perinatally, displaying neural tube defects, exencephaly, and intrauterine growth retardation.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    23
  • GO References
    10
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
    691
  • Tissues
    63
  • cDNA Data
    236
  • Literature Summary
    5
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000016619 Ensembl Gene Model | MGI Sequence Detail 19553 C57BL/6J ±  kb
    transcript ENSMUST00000165443 Ensembl | MGI Sequence Detail 4766 Not Applicable  
    polypeptide ENSMUSP00000131457 Ensembl | MGI Sequence Detail 466 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 238
      cDNA 236
      Primer pair 1
      Other 1
      Antibodies 1

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGD-MRK-37517, MGI:108473, MGI:1916758, MGI:2145989
    References
    more
    • Summaries
      All 74
      Developmental Gene Expression 5
      Diseases 1
      Gene Ontology 10
      Phenotypes 31
    • Earliest
      J:7688 Lane PW, et al., Association of megacolon with a new dominant spotting gene (Dom) in the mouse. J Hered. 1984 Nov-Dec;75(6):435-9
    • Latest
      J:387680 Ahn B, et al., Disorganization of Transcriptional Regulation and Alteration of Keratin Family Gene Expression in Hairy Ear Mice. Genes (Basel). 2026 Jan 31;17(2)
    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
    09/08/2026
    MGI 6.24     		The Jackson Laboratory