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NIPBL

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 cognitive disability. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].

Name	OMIM ID	Ensembl ID	HGNC ID	PHARMGKB ID	Map Location
NIPBL, cohesin loading factor	MIM:608667	Ensembl:ENSG00000164190	HGNC:HGNC:28862	PA134962343	5p13.2

Gene Categories:

HISTONE MODIFICATION

GO terms in NIPBL

Term Type	Evidence Type	GO Term ID	GO Des.
CC	IBA	GO:0000228	nuclear chromosome
CC	IBA	GO:0000785	chromatin
CC	IEA	GO:0000785	chromatin
CC	IBA	GO:0000790	nuclear chromatin
CC	IBA	GO:0005634	nucleus
CC	IDA	GO:0005634	nucleus
CC	TAS	GO:0005654	nucleoplasm
CC	ISS	GO:0032039	integrator complex
CC	IDA	GO:0032116	SMC loading complex
CC	HDA	GO:0070062	extracellular exosome
CC	IBA	GO:0090694	Scc2-Scc4 cohesin loading complex
CC	IDA	GO:0090694	Scc2-Scc4 cohesin loading complex
BP	IDA	GO:0000122	negative regulation of transcription by RNA polymerase II
BP	NAS	GO:0001656	metanephros development
BP	IBA	GO:0003007	heart morphogenesis
BP	IMP	GO:0003007	heart morphogenesis
BP	IMP	GO:0003151	outflow tract morphogenesis
BP	IBA	GO:0006302	double-strand break repair
BP	IEA	GO:0006351	transcription, DNA-templated
BP	IMP	GO:0006974	cellular response to DNA damage stimulus
BP	IBA	GO:0007064	mitotic sister chromatid cohesion
BP	IMP	GO:0007064	mitotic sister chromatid cohesion
BP	IBA	GO:0007076	mitotic chromosome condensation
BP	IBA	GO:0007420	brain development
BP	IMP	GO:0007420	brain development
BP	IBA	GO:0007507	heart development
BP	IMP	GO:0007605	sensory perception of sound
BP	IEA	GO:0019827	stem cell population maintenance
BP	IDA	GO:0031065	positive regulation of histone deacetylation
BP	IBA	GO:0034087	establishment of mitotic sister chromatid cohesion
BP	IMP	GO:0034088	maintenance of mitotic sister chromatid cohesion
BP	IMP	GO:0034613	cellular protein localization
BP	IMP	GO:0035115	embryonic forelimb morphogenesis
BP	IMP	GO:0035136	forelimb morphogenesis
BP	IMP	GO:0035261	external genitalia morphogenesis
BP	IEA	GO:0040018	positive regulation of multicellular organism growth
BP	IMP	GO:0042471	ear morphogenesis
BP	IMP	GO:0042634	regulation of hair cycle
BP	IEA	GO:0045444	fat cell differentiation
BP	IEA	GO:0045778	positive regulation of ossification
BP	IDA	GO:0045892	negative regulation of transcription, DNA-templated
BP	IEA	GO:0045944	positive regulation of transcription by RNA polymerase II
BP	IMP	GO:0045995	regulation of embryonic development
BP	IMP	GO:0048557	embryonic digestive tract morphogenesis
BP	IBA	GO:0048565	digestive tract development
BP	IMP	GO:0048589	developmental growth
BP	IMP	GO:0048592	eye morphogenesis
BP	IMP	GO:0048638	regulation of developmental growth
BP	IBA	GO:0048703	embryonic viscerocranium morphogenesis
BP	IEA	GO:0048703	embryonic viscerocranium morphogenesis
BP	IMP	GO:0050890	cognition
BP	IMP	GO:0060325	face morphogenesis
BP	IMP	GO:0061010	gall bladder development
BP	IMP	GO:0061038	uterus morphogenesis
BP	IBA	GO:0070550	rDNA condensation
BP	IBA	GO:0071169	establishment of protein localization to chromatin
BP	IMP	GO:0071481	cellular response to X-ray
BP	IBA	GO:0071733	transcriptional activation by promoter-enhancer looping
BP	IDA	GO:0071921	cohesin loading
BP	IBA	GO:1905406	positive regulation of mitotic cohesin loading
BP	IBA	GO:1990414	replication-born double-strand break repair via sister chromatid exchange
BP	ISS	GO:2001224	positive regulation of neuron migration
MF	IBA	GO:0003682	chromatin binding
MF	IEA	GO:0003682	chromatin binding
MF	IPI	GO:0005515	protein binding
MF	IPI	GO:0008022	protein C-terminus binding
MF	IEA	GO:0036033	mediator complex binding
MF	IPI	GO:0042826	histone deacetylase binding
MF	IPI	GO:0047485	protein N-terminus binding
MF	IPI	GO:0070087	chromo shadow domain binding

Gene expression in normal tissue: NIPBL

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Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in NIPBL

Database	Pathway ID	Pathway Des.
reactome	R-HSA-1640170	Cell Cycle
reactome	R-HSA-2470946	Cohesin Loading onto Chromatin
reactome	R-HSA-68884	Mitotic Telophase/Cytokinesis
reactome	R-HSA-68886	M Phase
reactome	R-HSA-69278	Cell Cycle, Mitotic

Gene-Drug: Aster Plot

Drug ID	Drug Name	Model Num.
iGMDRD705	Nakiterpiosin	2
iGMDRD434	BMS-536924	2
iGMDRD103	SN-38	3
iGMDRD271	Brefeldin A	2
iGMDRD121	GMX1778	2
iGMDRD158	NSC141540	5
iGMDRD5	Tyrphostin AG 1478	3
iGMDRD147	Prima-1	3
iGMDRD353	PD0325901	1
iGMDRD286	Nsc 632839	2
iGMDRD871	BRD6368	2
iGMDRD872	BRD7137	4
iGMDRD329	Merck60	3
iGMDRD366	PI-103	2
iGMDRD116	CD437	2
iGMDRD345	Compound 10b [PMID: 11504634]	1
iGMDRD299	ICL 670	2
iGMDRD79	Gemcitabine	2
iGMDRD512	nutlin 3	2
iGMDRD123	Isoevodiamine	4
iGMDRD883	CIL55A	1
iGMDRD945	ML214	3
iGMDRD341	Triacsin c	3
iGMDRD85	Ursolic acid	1
iGMDRD351	GW843682X	4
iGMDRD698	Neratinib	1
iGMDRD237	ABT-751	2
iGMDRD885	Compound 110	3
iGMDRD187	BRD9876	3
iGMDRD870	BRD63610	7
iGMDRD270	Ciclosporin	3
iGMDRD255	SB225002	2
iGMDRD260	FQI-2	6
iGMDRD64	Parbendazole	6
iGMDRD451	Serdemetan	1
iGMDRD188	Piperlongumine	7
iGMDRD100	Zebularine	2
iGMDRD399	Selumetinib	5
iGMDRD506	Fedratinib	7
iGMDRD577	BIX01294	2
iGMDRD562	Navitoclax	8
iGMDRD427	ABT737	3
iGMDRD779	PRL-3 Inhibitor I	3
iGMDRD670	ML 210	3
iGMDRD483	SCH-529074	1
iGMDRD494	Neopeltolide	1
iGMDRD462	OSI-906 (Linsitinib)	2
iGMDRD781	Sirolimus	2
iGMDRD126	Tipifarnib	5
iGMDRD151	CHM-1	6
iGMDRD599	Salermide	1
iGMDRD420	Leucascandrolide A	2
iGMDRD1008	SR-II-138A	6
iGMDRD466	Chaetocin	2
iGMDRD280	CYTOCHALASIN B	1
iGMDRD679	Bistramide A	2
iGMDRD446	LY 2183240	3
iGMDRD193	Fqi1	3
iGMDRD152	179324-69-7	1
iGMDRD61	Kinetin riboside	4

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in NIPBL

SITE

DATATYPES

CLASSFICATION

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