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].

NameOMIM IDEnsembl IDHGNC IDPHARMGKB IDMap Location
NIPBL, cohesin loading factorMIM:608667Ensembl:ENSG00000164190HGNC:HGNC:28862PA1349623435p13.2

Gene Categories:

HISTONE MODIFICATION

GO terms in NIPBL


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

Gene expression in normal tissue: NIPBL

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in NIPBL


DatabasePathway IDPathway Des.
reactomeR-HSA-1640170Cell Cycle
reactomeR-HSA-2470946Cohesin Loading onto Chromatin
reactomeR-HSA-68884Mitotic Telophase/Cytokinesis
reactomeR-HSA-68886M Phase
reactomeR-HSA-69278Cell Cycle, Mitotic

Gene-Drug: Aster Plot


Drug IDDrug NameModel Num.
iGMDRD705Nakiterpiosin2
iGMDRD434BMS-5369242
iGMDRD103SN-383
iGMDRD271Brefeldin A2
iGMDRD121GMX17782
iGMDRD158NSC1415405
iGMDRD5Tyrphostin AG 14783
iGMDRD147Prima-13
iGMDRD353PD03259011
iGMDRD286Nsc 6328392
iGMDRD871BRD63682
iGMDRD872BRD71374
iGMDRD329Merck603
iGMDRD366PI-1032
iGMDRD116CD4372
iGMDRD345Compound 10b [PMID: 11504634]1
iGMDRD299ICL 6702
iGMDRD79Gemcitabine2
iGMDRD512nutlin 32
iGMDRD123Isoevodiamine4
iGMDRD883CIL55A1
iGMDRD945ML2143
iGMDRD341Triacsin c3
iGMDRD85Ursolic acid1
iGMDRD351GW843682X4
iGMDRD698Neratinib1
iGMDRD237ABT-7512
iGMDRD885Compound 1103
iGMDRD187BRD98763
iGMDRD870BRD636107
iGMDRD270Ciclosporin3
iGMDRD255SB2250022
iGMDRD260FQI-26
iGMDRD64Parbendazole6
iGMDRD451Serdemetan1
iGMDRD188Piperlongumine7
iGMDRD100Zebularine2
iGMDRD399Selumetinib5
iGMDRD506Fedratinib7
iGMDRD577BIX012942
iGMDRD562Navitoclax8
iGMDRD427ABT7373
iGMDRD779PRL-3 Inhibitor I3
iGMDRD670ML 2103
iGMDRD483SCH-5290741
iGMDRD494Neopeltolide1
iGMDRD462OSI-906 (Linsitinib)2
iGMDRD781Sirolimus2
iGMDRD126Tipifarnib5
iGMDRD151CHM-16
iGMDRD599Salermide1
iGMDRD420Leucascandrolide A2
iGMDRD1008SR-II-138A6
iGMDRD466Chaetocin2
iGMDRD280CYTOCHALASIN B1
iGMDRD679Bistramide A2
iGMDRD446LY 21832403
iGMDRD193Fqi13
iGMDRD152179324-69-71
iGMDRD61Kinetin riboside4

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in NIPBL

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