Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Nipbl. (This text reflects annotations as of Wednesday, January 23, 2013.) MGI curation of this mouse gene is considered complete, including annotations derived from the biomedical literature as of February 9, 2010. If you know of any additional information regarding this mouse gene please let us know. Please supply mouse gene symbol and a PubMed ID.

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Summary from NCBI RefSeq

[Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the homolog of the Drosophila melanogaster Nipped-B gene product and fungal Scc2-type sister chromatid cohesion proteins. The Drosophila protein facilitates enhancer-promoter communication of remote enhancers and plays a role in developmental regulation. It is also homologous to a family of chromosomal adherins with broad roles in sister chromatid cohesion, chromosome condensation, and DNA repair. The human protein has a bipartite nuclear targeting sequence and a putative HEAT repeat. Condensins, cohesins and other complexes with chromosome-related functions also contain HEAT repeats. Mutations in this gene result in Cornelia de Lange syndrome, a disorder characterized by dysmorphic facial features, growth delay, limb reduction defects, and mental retardation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

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Summary text based on GO annotations supported by experimental evidence in mouse

• Researchers have inferred from direct assay, that the gene product of Nipbl
  • performs the following molecular functions:
    • chromatin binding ^[1]
    • mediator complex binding ^[1]
• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Nipbl
  • participates in the following biological processes:
    • embryonic cranial skeleton morphogenesis ^[2]
    • embryonic viscerocranium morphogenesis ^[2]
    • fat cell differentiation ^[2]
    • heart development ^[2]
    • positive regulation of multicellular organism growth ^[2]
    • positive regulation of ossification ^[2]
    • stem cell maintenance ^[1]

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Summary text based on GO annotations supported by experimental evidence in other organisms

• From comparative sequence analysis (see table for details), MGI curators have determined that the gene product of Nipbl:
  • participates in the following biological processes:
    • brain development
    • cellular protein localization
    • cellular response to X-ray
    • cognition
    • developmental growth
    • ear morphogenesis
    • embryonic digestive tract morphogenesis
    • embryonic forelimb morphogenesis
    • external genitalia morphogenesis
    • eye morphogenesis
    • face morphogenesis
    • forelimb morphogenesis
    • gall bladder development
    • heart morphogenesis
    • maintenance of mitotic sister chromatid cohesion
    • mitotic sister chromatid cohesion
    • negative regulation of transcription from RNA polymerase II promoter
    • negative regulation of transcription, DNA-dependent
    • outflow tract morphogenesis
    • positive regulation of histone deacetylation
    • regulation of developmental growth
    • regulation of embryonic development
    • regulation of hair cycle
    • response to DNA damage stimulus
    • sensory perception of sound
    • uterus morphogenesis
  • performs the following molecular functions:
    • chromo shadow domain binding
    • histone deacetylase binding
    • protein C-terminus binding
    • protein N-terminus binding
  • is located in the following cellular components:
    • nucleus
    • SMC loading complex

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Nipbl indicates that it:
  • participates in the following biological processes:
    • cell cycle

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References

1. Kagey MH et al. (2010) Mediator and cohesin connect gene expression and chromatin architecture. Nature, 467:430-5. (PubMed:20720539)
2. Kawauchi S et al. (2009) Multiple organ system defects and transcriptional dysregulation in the Nipbl(+/-) mouse, a model of Cornelia de Lange Syndrome. PLoS Genet, 5:e1000650. (PubMed:19763162)

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Gene Ontology Evidence Code Abbreviations:

EXP Inferred from experiment

IC Inferred by curator

IDA Inferred from direct assay

IEA Inferred from electronic annotation

IGI Inferred from genetic interaction

IMP Inferred from mutant phenotype

IPI Inferred from physical interaction

ISS Inferred from sequence or structural similarity

ISO Inferred from sequence orthology

ISA Inferred from sequence alignment

ISM Inferred from sequence model

NAS Non-traceable author statement

ND No biological data available

RCA Reviewed computational analysis

TAS Traceable author statement

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