Version 5.4
Homo sapiens Gene: NIPBL
Summary
InnateDB Gene IDBG-16758.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol NIPBL
Gene Name Nipped-B homolog (Drosophila)
Synonyms CDLS; CDLS1; IDN3; IDN3-B; Scc2
Species Homo sapiens
Ensembl Gene ENSG00000164190
Encoded Proteins
IDBP-16760
Nipped-B homolog (Drosophila)
IDBP-365024
Nipped-B homolog (Drosophila)
IDBP-479911
Nipped-B homolog (Drosophila)
IDBP-808672
Nipped-B homolog (Drosophila)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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 5:36876759-37066413
Strand Forward strand
Band p13.2
Transcripts
ENST00000282516 ENSP00000282516
ENST00000448238 ENSP00000406266
ENST00000505998
ENST00000504430
ENST00000503274
ENST00000509429
ENST00000514335
ENST00000513819 ENSP00000421504
ENST00000621733 ENSP00000480694
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
Cellular Component
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0032116 SMC loading complex
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000022141
View Gene Order
ENSBTAG00000000579
Not yet available
Pathways
NETPATH
REACTOME
REACT_150421
Cohesin Loading onto Chromatin pathway
REACT_1932
Mitotic Telophase/Cytokinesis pathway
REACT_115566
Cell Cycle pathway
REACT_910
M Phase pathway
REACT_152
Cell Cycle, Mitotic pathway
KEGG
INOH
PID NCI
Cross-References
SwissProt
TrEMBL H0Y8M3
UniProt Splice Variant
Entrez Gene 25836
UniGene Hs.481927 Hs.606655
RefSeq NM_015384 NM_133433 XM_005248280 XM_005248282 XM_005248283
HUGO HGNC:28862
OMIM 608667
CCDS CCDS3920 CCDS47198
HPRD 10560
IMGT
EMBL AC008902 AC026741
GenPept
RNA Seq Atlas 25836

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca