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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
  • Transcription Start Sites
    12 TSS
Location &
Maps
more
  • Sequence Map
    Chr15:8290617-8444463 bp, - strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 15, 3.82 cM, cytoband A2
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    260 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1913976
protein coding gene Chr15:8289824-8465310 (-)
129S1/SvImJ MGP_129S1SvImJ_G0021706
protein coding gene Chr15:5351176-5509489 (-)
A/J MGP_AJ_G0021667
protein coding gene Chr15:5215552-5372106 (-)
AKR/J MGP_AKRJ_G0021645
protein coding gene Chr15:5271689-5425802 (-)
BALB/cJ MGP_BALBcJ_G0021674
protein coding gene Chr15:5135023-5289880 (-)
C3H/HeJ MGP_C3HHeJ_G0021450
protein coding gene Chr15:5307676-5466073 (-)
C57BL/6NJ MGP_C57BL6NJ_G0022113
protein coding gene Chr15:5548382-5708800 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0019650
protein coding gene Chr15:4803087-4963336 (-)
CAST/EiJ MGP_CASTEiJ_G0020966
protein coding gene Chr15:5297159-5461684 (-)
CBA/J MGP_CBAJ_G0021419
protein coding gene Chr15:5674604-5836568 (-)
DBA/2J MGP_DBA2J_G0021543
protein coding gene Chr15:5131548-5285841 (-)
FVB/NJ MGP_FVBNJ_G0021521
protein coding gene Chr15:5053166-5206980 (-)
LP/J MGP_LPJ_G0021611
protein coding gene Chr15:5270564-5425438 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0021546
protein coding gene Chr15:5880270-6080620 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0022136
protein coding gene Chr15:5298335-5459324 (-)
PWK/PhJ MGP_PWKPhJ_G0020709
protein coding gene Chr15:5148300-5306374 (-)
SPRET/EiJ MGP_SPRETEiJ_G0020547
protein coding gene Chr15:5183157-5346716 (-)
WSB/EiJ MGP_WSBEiJ_G0021022
protein coding gene Chr15:5244246-5405773 (-)



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

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
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.
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
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 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
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 23
      cDNA 21
      Primer pair 1
      Other 1

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGI:1918425, MGI:2146291
    References
    more
    • Summaries
      All 51
      Developmental Gene Expression 7
      Diseases 1
      Gene Ontology 10
      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
    Citing These Resources
    Funding Information
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    last database update
    11/06/2018
    MGI 6.13
    The Jackson Laboratory