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Npm1 Gene Detail
Summary
  • Symbol
    Npm1
  • Name
    nucleophosmin 1
  • Synonyms
    B23, NO38, nucleolar protein NO38
  • Feature Type
    protein coding gene
  • IDs
    MGI:106184
    NCBI Gene: 18148
  • Alliance
    gene page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:33102287-33113206 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 11, 19.21 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    267 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_106184
 protein coding gene Chr11:33102287-33114143 (-)
129S1/SvImJ MGP_129S1SvImJ_G0018141
 protein coding gene Chr11:31430869-31441788 (-)
A/J MGP_AJ_G0018114
 protein coding gene Chr11:30234808-30245684 (-)
AKR/J MGP_AKRJ_G0018078
 protein coding gene Chr11:31185025-31195289 (-)
BALB/cJ MGP_BALBcJ_G0018083
 protein coding gene Chr11:30410875-30423050 (-)
C3H/HeJ MGP_C3HHeJ_G0017896
 protein coding gene Chr11:31126438-31138359 (-)
C57BL/6NJ MGP_C57BL6NJ_G0018537
 protein coding gene Chr11:32460194-32471249 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0016192
 protein coding gene Chr11:28739414-28749905 (-)
CAST/EiJ MGP_CASTEiJ_G0017460
 protein coding gene Chr11:31194534-31205493 (-)
CBA/J MGP_CBAJ_G0017869
 protein coding gene Chr11:34006991-34021038 (-)
DBA/2J MGP_DBA2J_G0017979
 protein coding gene Chr11:30007836-30018564 (-)
FVB/NJ MGP_FVBNJ_G0017973
 protein coding gene Chr11:29839848-29850760 (-)
LP/J MGP_LPJ_G0018051
 protein coding gene Chr11:31695336-31706368 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0017997
 protein coding gene Chr11:34958830-34970694 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0018576
 protein coding gene Chr11:31327561-31338593 (-)
PWK/PhJ MGP_PWKPhJ_G0017241
 protein coding gene Chr11:30185918-30198434 (-)
SPRET/EiJ MGP_SPRETEiJ_G0017033
 protein coding gene Chr11:31043150-31055180 (-)
WSB/EiJ MGP_WSBEiJ_G0017509
 protein coding gene Chr11:30947952-30960103 (-)



Homology
more
  • Human Ortholog
    NPM1, nucleophosmin 1
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    NPM1, nucleophosmin 1
  • Synonyms
    B23, NPM
  • Links
    NCBI Gene ID: 4869
    neXtProt AC: NX_P06748
    UniProt: P06748

  • Chr Location
    5q35.1; chr5:171387116-171411810 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Npm1 mouse models; 1 with human NPM1 associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
 View 1 "NOT" model
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
    63 phenotypes from 7 alleles in 8 genetic backgrounds
    13 phenotypes from multigenic genotypes
    2 images
    36 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.
Homozygous mutation of this gene results in embryonic lethality, anemia, defects in primitive hematopoeisis and abnormal brain development. Heterozygous mutation results in hematopoeisis defects and chromosomal instability.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    157
  • GO References
    35
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
    846
  • Tissues
    36
  • cDNA Data
    1037
  • Literature Summary
    33
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000057113 Ensembl Gene Model | MGI Sequence Detail 10920 C57BL/6J ±  kb
    transcript ENSMUST00000075641 Ensembl | MGI Sequence Detail 1633 Not Applicable  
    polypeptide ENSMUSP00000075067 Ensembl | MGI Sequence Detail 292 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 1043
      cDNA 1039
      Primer pair 3
      Other 1

      Microarray probesets 7
    Other
    Accession IDs
    less
    MGD-MRK-33874
    References
    more
    • Summaries
      All 140
      Developmental Gene Expression 33
      Diseases 2
      Gene Ontology 35
      Phenotypes 36
    • Earliest
      J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
    • Latest
      J:354061 Lara-Astiaso D, et al., In vivo screening characterizes chromatin factor functions during normal and malignant hematopoiesis. Nat Genet. 2023 Sep;55(9):1542-1554
    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
    11/12/2024
    MGI 6.24     		The Jackson Laboratory