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Nup54 Gene Detail
Summary
  • Symbol
    Nup54
  • Name
    nucleoporin 54
  • Synonyms
    3110079L04Rik, 54kDa
  • Feature Type
    protein coding gene
  • IDs
    MGI:1920460
    NCBI Gene: 269113
  • Alliance
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr5:92563399-92583078 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
  • Genetic Map
    Chromosome 5, 46.75 cM, cytoband E3
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    506 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1920460
protein coding gene Chr5:92563399-92583117 (-)
129S1/SvImJ MGP_129S1SvImJ_G0029751
protein coding gene Chr5:93613339-93633032 (-)
A/J MGP_AJ_G0029717
protein coding gene Chr5:89890838-89915076 (-)
AKR/J MGP_AKRJ_G0029663
protein coding gene Chr5:92826970-92851600 (-)
BALB/cJ MGP_BALBcJ_G0029727
protein coding gene Chr5:90767721-90789041 (-)
C3H/HeJ MGP_C3HHeJ_G0029450
protein coding gene Chr5:93228087-93251941 (-)
C57BL/6NJ MGP_C57BL6NJ_G0030181
protein coding gene Chr5:97317729-97337911 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0027417
protein coding gene Chr5:85534156-85554145 (-)
CAST/EiJ MGP_CASTEiJ_G0028860
protein coding gene Chr5:92609675-92632349 (-)
CBA/J MGP_CBAJ_G0029420
protein coding gene Chr5:100694723-100734125 (-)
DBA/2J MGP_DBA2J_G0029564
protein coding gene Chr5:89931880-89954907 (-)
FVB/NJ MGP_FVBNJ_G0029523
protein coding gene Chr5:88777502-88798997 (-)
LP/J MGP_LPJ_G0029652
protein coding gene Chr5:93974663-93994792 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0029552
protein coding gene Chr5:105604223-105627479 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0030215
protein coding gene Chr5:92351973-92372432 (-)
PWK/PhJ MGP_PWKPhJ_G0028579
protein coding gene Chr5:88999986-89020958 (-)
SPRET/EiJ MGP_SPRETEiJ_G0028414
protein coding gene Chr5:91717265-91738512 (-)
WSB/EiJ MGP_WSBEiJ_G0028939
protein coding gene Chr5:92823991-92845325 (-)



Homology
more
  • Human Ortholog
    NUP54, nucleoporin 54
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    NUP54, nucleoporin 54
  • Synonyms
    DYT37
  • Links
    NCBI Gene ID: 53371
    neXtProt AC: NX_Q7Z3B4
    UniProt: Q7Z3B4

  • Chr Location
    4q21.1; chr4:76107562-76148485 (-)  GRCh38

Human Diseases
more
  • Diseases
    1 with human NUP54 associations

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

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    8 phenotypes from 1 allele in 2 genetic backgrounds
    1 images
    14 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 knock-out allele show embryonic growth retardation, a small egg cylinder, disorganized extraembryonic tissue, failure of primitive streak formation and gastrulation, and complete embryonic lethality by E9.5.
Gene Ontology
(GO)
Classifications
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  • 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 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
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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
  • Sequences &
    Gene Models
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    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000034826 Ensembl Gene Model | MGI Sequence Detail 19680 C57BL/6J ±  kb
    transcript ENSMUST00000038514 Ensembl | MGI Sequence Detail 2352 Not Applicable  
    polypeptide ENSMUSP00000046540 Ensembl | MGI Sequence Detail 510 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      4 Sequences
    • Protein Ontology
      PR:000011520 nucleoporin p54
    • InterPro Domains
      IPR025712 Nucleoporin Nup54, alpha-helical domain
      IPR024864 Nucleoporin Nup54/Nup57/Nup44
      IPR040985 Nup54, C-terminal interacting domain
    • GlyGen
      Q8BTS4 2 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 95
      cDNA 95

      Microarray probesets 4
    References
    more
    • Summaries
      All 44
      Developmental Gene Expression 1
      Gene Ontology 8
      Phenotypes 14
    • Earliest
      J:134667 Roderick TH, et al., Two radiation-induced chromosomal inversions in mice (Mus musculus). Proc Natl Acad Sci U S A. 1970 Oct;67(2):961-7
    • Latest
      J:139177 Hoffman BG, et al., Identification of transcripts with enriched expression in the developing and adult pancreas. Genome Biol. 2008;9(6):R99

    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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    last database update
    10/29/2024
    MGI 6.24
    The Jackson Laboratory