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Nipbl Gene Detail
Summary
  • Symbol
    Nipbl
  • Name
    NIPBL cohesin loading factor
  • Synonyms
    4921518A06Rik, 4933421G18Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1913976
    NCBI Gene: 71175
  • Gene Overview
    MyGene.info: NIPBL
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr15:8290617-8444463 bp, - strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      153847 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 15, 3.82 cM, cytoband A2
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    NIPBL, NIPBL, cohesin loading factor
  • Vertebrate Orthologs
    11
  • Human Ortholog
    NIPBL, NIPBL, cohesin loading factor
    Orthology source: HomoloGene, HGNC
  • Synonyms
    CDLS, CDLS1, IDN3, IDN3-B, Scc2
  • Links
    NCBI Gene ID: 25836
    neXtProt AC: NX_Q6KC79
    UniProt: Q6KC79

  • Chr Location
    5p13.2; chr5:36876759-37065819 (+)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 15850
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;2 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: NIPBL
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Nipbl mouse models; 1 with human NIPBL associations

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

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    68 phenotypes from 3 alleles in 4 genetic backgrounds
    7 phenotypes from multigenic genotypes
    3 images
    17 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.
Nullizygous mice are embryonic lethal. Heterozygous null mice are growth-retarded and show various skeletal anomalies. Heterozygotes for a gene-trap allele are small and show craniofacial, heart, eye, hearing and behavioral defects, delayed bone maturation, reduced body fat, and postnatal mortality.
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
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
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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
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000022141 Ensembl Gene Model | MGI Sequence Detail 153847 C57BL/6J ±  kb
    transcript ENSMUST00000052965 Ensembl | MGI Sequence Detail 9423 Not Applicable  
    polypeptide ENSMUSP00000059385 Ensembl | MGI Sequence Detail 2798 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      260 from dbSNP Build 142
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 22
      cDNA 20
      Primer pair 1
      Other 1

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGI:1918425, MGI:2146291
    References
    more
    • Summaries
      All 48
      Developmental Gene Expression 6
      Diseases 1
      Gene Ontology 8
      Phenotypes 17
    • Earliest
      J:93290 Araki K, et al., Exchangeable gene trap using the Cre/mutated lox system. Cell Mol Biol (Noisy-Le-Grand). 1999 Jul;45(5):737-50
    • Latest
      J:255061 Newkirk DA, et al., The effect of Nipped-B-like (Nipbl) haploinsufficiency on genome-wide cohesin binding and target gene expression: modeling Cornelia de Lange syndrome. Clin Epigenetics. 2017;9:89

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    06/12/2018
    MGI 6.12
    The Jackson Laboratory