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FLASH GENE
Symbol NIPBL contributors: mct/shn - updated : 23-09-2015
HGNC name Nipped-B homolog (Drosophila)
HGNC id 28862
Corresponding disease
CDLS Cornelia de Lange syndrome
DUP5P13 chromosome 5p13 duplication
Location 5p13.2      Physical location : 36.876.860 - 37.065.920
Synonym name
  • IDN3 protein
  • homolog of the Drosophila melanogaster Nipped-B
  • delangin
  • delangin isoform A
  • delangin isoform B
  • sister chromatid cohesion 2 homolog (yeast)
  • sister chromatid cohesion 2 homolog
  • SCC2 homolog
  • nipped-B-like protein
  • Synonym symbol(s) IDN3-B, FLJ11203, FLJ12597, FLJ13354, FLJ13648, DKFZp434L1319, IDN.3, IDN3, Scc2
    DNA
    TYPE functioning gene
    STRUCTURE 189.06 kb     47 Exon(s)
    MAPPING cloned Y linked N status provisional
    Map pter - D5S2085 - D5S1994 - NIPBL - D5S2023 - D5S1998 - cen
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    47 splicing 9841 - 2804 -
    46 splicing 10389 - 2697 - -
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestivemouth   highly
    Endocrineadrenal gland   highly
     parathyroid   highly
    Lymphoid/Immunethymus    
    Nervousnerve   highly
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone   
    Connectivecartilage   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Reproductiveoocyte Homo sapiens
    Reproductivespermatocyte Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text liver, kidney, limbs heart, lung, placenta, notochord and surface endoderm
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a bipartite nuclear targeting sequence
  • a glutamine-rich region
  • an HP1-interacting motif
  • several HEAT repeats within the C-terminal part, which have been implicated in protein–protein interactions
  • a canonical amino acid motif PxVxL
  • HOMOLOGY
    interspecies ortholog to Nipbl, Mus misculus
    ortholog to Nipbl , Rattus norvegicus
    ortholog to NIPBL, Pan troglodytes
    Homologene
    FAMILY SCC2/Nipped-B family
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,nucleus
    text
  • in spermatocytes, NIPBL/MAU2 then relocalises to chromocenters, whereas in oocytes it remains bound to chromosomal axes throughout prophase to dictyate arrest
  • basic FUNCTION
  • playing a role in sister chromatid cohesion and developmental regulation
  • multi-functional protein with roles in chromosome function, gene regulation and double-strand DNA repair
  • required for the loading of Cohesin onto chromatin, have been implicated in double-strand DNA repair and in the regulation of gene expression (Jahnke 2008)
  • has a function in modulating chromatin architecture, particularly for gene-rich areas of the chromosome
  • plays an important role in chromatin compaction, having the most impact in regions of the genome with the highest gene density and the highest density of CTCF and cohesin binding sites
  • NIPBL and cohesin have been reported to affect long-range chromosomal interactions, both independently and through interactions with CTCF
  • a conserved patch on the surface of MAU2 is required to recruit NIPBL/MAU2 to centromeres and to build pericentromeric cohesion
  • balanced activity of NIPBL/MAU2 and WAPL enables cohesin to correctly structure chromosomes
  • NIPBL, SMC1A, SMC3, RAD21, and HDAC8 genes codify for the "cohesin complex" playing a role in chromatid adhesion, DNA repair and gene expression regulation
  • CELLULAR PROCESS nucleotide, repair
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • subunit of the Cohesin loading complex
  • kollerin complex, consisting of NIPBL/MAU2 in vertebrates, is crucial for the chromatin-association of the cohesin complex and therefore for the critical functions of cohesin in cell division, transcriptional regulation and chromatin organisation
  • INTERACTION
    DNA
  • sites of DNA damage
  • RNA
    small molecule
    protein
  • histone deacetylases -1 and -3
  • mediator-cohesin complexes
  • NIPBL/Scc2 functionally interacts with the MAU2/Scc4 protein to initiate loading of cohesin onto chromatin
  • STAG2 is the main complex corecruited with the cohesin-loading factor NIPBL to DNA damage sites in an S/G(2)-phase-specific manner
  • MAU2/NIPBL protein interaction is not only required for cohesin loading, but may also be required to restrict the level of NIPBL involved in regulating gene expression
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CDLS , DUP5P13
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS