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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
  • Alliance
    gene page
  • Transcription Start Sites
    21 TSS
Location &
Maps
more
  • Sequence Map
    Chr15:8320101-8473947 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 15, 3.82 cM, cytoband A2
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    2627 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 Chr15:8319308-8494799 (-)
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
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    NIPBL, NIPBL cohesin loading factor
  • Synonyms
    CDLS, CDLS1, IDN3, IDN3-B, Scc2
  • Links
    NCBI Gene ID: 25836
    neXtProt AC: NX_Q6KC79
    UniProt: Q6KC79

  • Chr Location
    5p13.2; chr5:36876769-37066413 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Nipbl mouse models; 2 with human NIPBL associations

Human Disease Mouse Models
      
IDs
 View 2 models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    88 phenotypes from 6 alleles in 11 genetic backgrounds
    20 phenotypes from multigenic genotypes
    3 images
    27 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
less
  • All GO Annotations
    91
  • GO References
    10
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
    814
  • Tissues
    105
  • cDNA Data
    20
  • Literature Summary
    13
  • Comparison Matrix
    Gene Expression + Phenotype
    • 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
    • UniProt
      4 Sequences
    • Protein Ontology
      PR:000011219 nipped-B-like protein
      (term hierarchy)
    • InterPro Domains
      IPR011989 Armadillo-like helical
      IPR016024 Armadillo-type fold
      IPR026003 HEAT repeat associated with sister chromatid cohesion protein
      IPR033031 Scc2/Nipped-B family
      IPR024986 Sister chromatid cohesion C-terminal domain
    • GlyGen
      Q6KCD5 7 sites, 5 N-linked glycans (5 sites), 1 O-linked glycan (2 sites)
    Molecular
    Reagents
    less
    • All nucleic 27
      cDNA 22
      Primer pair 4
      Other 1

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGI:1918425, MGI:2146291
    References
    more
    • Summaries
      All 63
      Developmental Gene Expression 13
      Diseases 2
      Gene Ontology 10
      Phenotypes 27
    • 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:346443 Chea S, et al., Gastrulation-stage gene expression in Nipbl(+/-) mouse embryos foreshadows the development of syndromic birth defects. Sci Adv. 2024 Mar 22;10(12):eadl4239
    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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    Send questions and comments to User Support.     		last database update
    12/17/2024
    MGI 6.24     		The Jackson Laboratory