InnateDB: Systems Biology of the Innate Immune Response

Mus musculus Gene: Nipbl

Summary

InnateDB Gene

IDBG-128592.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

Nipbl

Gene Name

Nipped-B homolog (Drosophila)

Synonyms

Idn3

Species

Mus musculus

Ensembl Gene

ENSMUSG00000022141

Encoded Proteins

IDBP-128594

Nipped-B homolog (Drosophila)

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000164190:
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]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 15:8291225-8444463

Strand

Reverse strand

Band

Transcripts

ENSMUST00000052965

ENSMUSP00000059385

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 14 experimentally validated interaction(s) in this database.
They are also associated with 19 interaction(s) predicted by orthology.

Experimentally validated
Total	14 [view]
Protein-Protein	14 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	19 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003682	chromatin binding
GO:0005488	binding
GO:0005515	protein binding
GO:0008022	protein C-terminus binding
GO:0036033	mediator complex binding
GO:0042826	histone deacetylase binding
GO:0047485	protein N-terminus binding
GO:0070087	chromo shadow domain binding

Biological Process

GO:0000122	negative regulation of transcription from RNA polymerase II promoter
GO:0003007	heart morphogenesis
GO:0003151	outflow tract morphogenesis
GO:0006974	cellular response to DNA damage stimulus
GO:0007064	mitotic sister chromatid cohesion
GO:0007420	brain development
GO:0007507	heart development
GO:0007605	sensory perception of sound
GO:0019827	stem cell maintenance
GO:0031065	positive regulation of histone deacetylation
GO:0034088	maintenance of mitotic sister chromatid cohesion
GO:0034613	cellular protein localization
GO:0035115	embryonic forelimb morphogenesis
GO:0035136	forelimb morphogenesis
GO:0035261	external genitalia morphogenesis
GO:0040018	positive regulation of multicellular organism growth
GO:0042471	ear morphogenesis
GO:0042634	regulation of hair cycle
GO:0045444	fat cell differentiation
GO:0045778	positive regulation of ossification
GO:0045892	negative regulation of transcription, DNA-templated
GO:0045995	regulation of embryonic development
GO:0048557	embryonic digestive tract morphogenesis
GO:0048589	developmental growth
GO:0048592	eye morphogenesis
GO:0048638	regulation of developmental growth
GO:0048701	embryonic cranial skeleton morphogenesis
GO:0048703	embryonic viscerocranium morphogenesis
GO:0050890	cognition
GO:0060325	face morphogenesis
GO:0061010	gall bladder development
GO:0061038	uterus morphogenesis
GO:0071481	cellular response to X-ray