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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
  • Gene Overview
    MyGene.info: NUP50
  • Alliance
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr15:84923428-84942963 bp, + strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 15, 40.25 cM
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    136 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1351502
protein coding gene Chr15:84923411-84942963 (.)
129S1/SvImJ MGP_129S1SvImJ_G0022184
protein coding gene Chr15:85734931-85754387 (+)
A/J MGP_AJ_G0022143
protein coding gene Chr15:82569427-82588962 (+)
AKR/J MGP_AKRJ_G0022118
protein coding gene Chr15:85000156-85019688 (+)
BALB/cJ MGP_BALBcJ_G0022149
protein coding gene Chr15:82698686-82718217 (+)
C3H/HeJ MGP_C3HHeJ_G0021919
protein coding gene Chr15:84945729-84965312 (+)
C57BL/6NJ MGP_C57BL6NJ_G0022594
protein coding gene Chr15:88996003-89016610 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0020119
protein coding gene Chr15:78924321-78943951 (+)
CAST/EiJ MGP_CASTEiJ_G0021441
protein coding gene Chr15:85737594-85757171 (+)
CBA/J MGP_CBAJ_G0021886
protein coding gene Chr15:91889342-91909067 (+)
DBA/2J MGP_DBA2J_G0022013
protein coding gene Chr15:82039282-82059090 (+)
FVB/NJ MGP_FVBNJ_G0021992
protein coding gene Chr15:81112087-81132163 (+)
LP/J MGP_LPJ_G0022084
protein coding gene Chr15:85890569-85910051 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0022012
protein coding gene Chr15:96668317-96687644 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0022609
protein coding gene Chr15:85004045-85024138 (+)
PWK/PhJ MGP_PWKPhJ_G0021182
protein coding gene Chr15:82051577-82071116 (+)
SPRET/EiJ MGP_SPRETEiJ_G0021016
protein coding gene Chr15:84713828-84733551 (+)
WSB/EiJ MGP_WSBEiJ_G0021490
protein coding gene Chr15:85496182-85516217 (+)



Homology
more
  • Human Ortholog
    NUP50, nucleoporin 50
  • Vertebrate Orthologs
    10
  • Human Ortholog
    NUP50, nucleoporin 50
    Orthology source: HomoloGene, HGNC
  • Synonyms
    NPAP60, NPAP60L
  • Links
    NCBI Gene ID: 10762
    neXtProt AC: NX_Q9UKX7
    UniProt: Q9UKX7

  • Chr Location
    22q13.31; chr22:45163845-45188011 (+)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 5190
    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: NUP50
  • Gene Tree
Human Diseases
less
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    4 phenotypes from 1 allele in 1 genetic background
    28 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.
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
  • 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
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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 18141 NCBI Gene Model | MGI Sequence Detail 19536 C57BL/6J ±  kb
    transcript NM_016714 RefSeq | MGI Sequence Detail 4766 C57BL/6  
    polypeptide NP_057923 RefSeq | MGI Sequence Detail 466 C57BL/6  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 237
      cDNA 236
      Primer pair 1

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGD-MRK-37517, MGI:108473, MGI:1916758, MGI:2145989
    References
    more
    • Summaries
      All 62
      Developmental Gene Expression 5
      Diseases 1
      Gene Ontology 5
      Phenotypes 28
    • 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:233611 Hirata A, et al., Homeobox family Hoxc localization during murine palate formation. Congenit Anom (Kyoto). 2016 Jul;56(4):172-9

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
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    last database update
    11/06/2018
    MGI 6.13
    The Jackson Laboratory