NIPBL
Sign in to saveAlso known as CDLS, CDLS1, IDN3, IDN3-B, Scc2, NIPBL, cohesin loading factor, NIPBL cohesin loading factor
Nipped-B-like protein (NIPBL), also known as SCC2 or delangin is a protein that in humans is encoded by the NIPBL gene. NIPBL is required for the association of cohesin with DNA and is the major subunit of the cohesin loading complex. Heterozygous mutations in NIPBL account for an estimated 60% of case of Cornelia de Lange Syndrome.
Gene data
NIPBL- Name
- NIPBL cohesin loading factor
- Type
- protein-coding
- Position
- 36,876,769–37,066,413 (+)
- Aliases
- CDLS, CDLS1, IDN3, IDN3-B, Scc2
- Ensembl
- ENSG00000164190
- RefSeq RNA
- NM_001438586.1, NM_015384.5, NM_133433.4, XM_005248282.6, XM_006714467.3
- RefSeq protein
- NP_001425515.1, NP_056199.2, NP_597677.2, XP_005248339.3, XP_006714530.1
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].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Wikidata facts
- Image
- NIPBL.png
Show 6 more facts
- HomoloGene ID
- 15850
- exact match
- identifiers.org/ncbigene/25836
- genomic end
- 37066515
- genomic start
- 36876769
- cytogenetic location
- 5p13.2
- Commons category
- Nipped-B-like protein
Sources (6)
via Wikidata · CC0
~2 min read
Article
3 sectionsContents
- Structure and Interactions
- Clinical significance
- References
Nipped-B-like protein (NIPBL), also known as SCC2 or delangin is a protein that in humans is encoded by the NIPBL gene. NIPBL is required for the association of cohesin with DNA and is the major subunit of the cohesin loading complex. Heterozygous mutations in NIPBL account for an estimated 60% of case of Cornelia de Lange Syndrome.
== Structure and Interactions == thumb|left|Structure of SCC4 (green) in complex with SCC2 N-terminal domain (blue) from budding yeast (Hinshaw et al., 2015) NIPBL is a large hook-shaped protein containing HEAT repeats. NIPBL forms a complex with MAU2 (Scc4 in budding yeast) known as the cohesin loading complex. As this name suggests NIPBL and MAU2 are required for the initial association of cohesin with DNA.