InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: NIPBL

Summary

InnateDB Protein

IDBP-16760.6

Last Modified

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

Gene Symbol

NIPBL

Protein Name

Nipped-B homolog (Drosophila)

Synonyms

CDLS; CDLS1; IDN3; IDN3-B; Scc2;

Species

Homo sapiens

Ensembl Protein

ENSP00000282516

InnateDB Gene

IDBG-16758 (NIPBL)

Protein Structure

UniProt Annotation

Function

Probably plays a structural role in chromatin. Involved in sister chromatid cohesion, possibly by interacting with the cohesin complex (By similarity). {ECO:0000250}.

Subcellular Localization

Nucleus {ECO:0000250}.

Disease Associations

Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470]: A form of Cornelia de Lange syndrome, a clinically heterogeneous developmental disorder associated with malformations affecting multiple systems. Characterized by facial dysmorphisms, abnormal hands and feet, growth delay, cognitive retardation, hirsutism, gastroesophageal dysfunction and cardiac, ophthalmologic and genitourinary anomalies. {ECO:0000269PubMed:15146185, ECO:0000269PubMed:15146186, ECO:0000269PubMed:15318302, ECO:0000269PubMed:20358602}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Widely expressed. Highly expressed in heart, skeletal muscle, fetal and adult liver, fetal and adult kidney. Expressed at intermediates level in thymus, placenta, peripheral leukocyte and small intestine. Weakly or not expressed in brain, colon, spleen and lung. {ECO:0000269PubMed:15146185, ECO:0000269PubMed:15146186}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 31 experimentally validated interaction(s) in this database.
They are also associated with 5 interaction(s) predicted by orthology.

Experimentally validated
Total	31 [view]
Protein-Protein	31 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	5 [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:0000278	mitotic cell cycle
GO:0001656	metanephros development
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