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Nipbl
Gene Detail
Symbol

Name
ID
Nipbl
Nipped-B homolog (Drosophila)
MGI:1913976
Synonyms
4921518A06Rik, 4933421G18Rik
Feature Type
protein coding gene
Genetic Map
Chromosome 15
3.82 cM, cytoband A2
Detailed Genetic Map ± 1 cM


Mapping data(3)
Sequence Map
Chr15:8291225-8444463 bp, - strand
From NCBI annotation of GRCm38

  153239 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:15850  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 2 chicken; 1 western clawed frog; 1 zebrafish

Gene Tree: Nipbl

Human
homologs
Human Homolog NIPBL, Nipped-B homolog (Drosophila)
NCBI Gene ID 25836
neXtProt AC  NX_Q6KC79
Human Synonyms  CDLS, CDLS1, IDN3, IDN3-B, Scc2
Human Chr (Location)  5p13.2; chr5:36876759-37065824 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human NIPBL
Mutations,
alleles, and
phenotypes
All mutations/alleles(68) : Gene trapped(65) Targeted(2) Transposon induced(1)
Genomic Mutations involving Nipbl (1)
Incidental mutations (data from Mutagenetix , APF )
 
Mice heterozygous for a gene trap allele exhibit increased mortality from birth to early adulthood, decreased weight, decreased adipose tissue, delayed ossification, craniofacial abnormalities, and abnormal hearing, behavior, and eye morphology.
 
Human Diseases Modeled Using Mouse Nipbl (1)    Alleles Annotated to Human Diseases(1)    Phenotype Images(3)
Interactions
Nipbl interacts with 2 markers (Mir151, Mir323)
Gene Ontology
(GO)
classifications
All GO classifications: (45 annotations)
Process brain development, cell cycle, ...
Component chromatin, extracellular vesicular exosome, ...
Function chromatin binding, chromo shadow domain binding, ...
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
Literature Summary: (4 records)
Data Summary: Results (95)    Tissues (95)    Images (8)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 95
cDNA source data(18)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(22) cDNA(20) Primer pair(1) Other(1)
Microarray probesets(5)
Other database
links
Ensembl Gene ModelENSMUSG00000022141 (Evidence)
Entrez Gene71175 (Evidence)
DFCITC1576495, TC1584757, TC1589035, TC1598645, TC1600329, TC1612801, TC1628193, TC1650523
DoTSDT.101337782, DT.103568542, DT.40175078, DT.489170, DT.60102623, DT.91394210, DT.91399466, DT.94144068, DT.94188114, DT.99571425
NIA Mouse Gene IndexU043877
Consensus CDS ProjectCCDS37035.1
International Mouse Knockout Project StatusNipbl
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic 71175 NCBI Gene Model | MGI Sequence Detail 153239 C57BL/6J ±  kb
transcript NM_201232 RefSeq | MGI Sequence Detail 10762 C57BL/6 
polypeptide Q6KCD5 UniProt | EBI | MGI Sequence Detail 2798 Not Applicable 

For the selected sequences
All sequences(60) RefSeq(10) UniProt(4)
Polymorphisms
SNPs within 2kb(252 from dbSNP Build 137)    SNPs within 2kb including multiple locations(256)
Protein-related
information
ResourceIDDescription
InterPro IPR011989 Armadillo-like helical
InterPro IPR016024 Armadillo-type fold
InterPro IPR026003 HEAT repeat associated with sister chromatid cohesion protein
InterPro IPR024986 Sister chromatid cohesion C-terminal domain
Protein Ontology PR:000011219 nipped-B-like protein
Graphical View of Protein Domain Structure
References
(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:204095 Remeseiro S, et al., Reduction of Nipbl impairs cohesin loading locally and affects transcription but not cohesion-dependent functions in a mouse model of Cornelia de Lange Syndrome. Biochim Biophys Acta. 2013 Dec;1832(12):2097-102
All references(44)
Disease annotation references (1)
Other
accession IDs
MGI:1918425, MGI:2146291

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
10/08/2014
MGI 5.20
The Jackson Laboratory