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 |
|---|---|---|---|---|---|
OMIM IDMIM:608667 Ensembl IDEnsembl:ENSG00000164190 HGNC IDHGNC:HGNC:28862 PHARMGKB IDPA134962343 Map Location5p13.2 | |||||
Gene Categories:
HISTONE MODIFICATIONGO 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 |
Gene expression in normal tissue: NIPBL
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
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in NIPBL
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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