NIPBL

Information NIPBL

Description

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]

Full Name

NIPBL cohesin loading factor

Source NCBI

Species

Homo sapiens [tax_id: 9606]

Genome

hg38

ReMap Statistics

Datasets
18
Biotypes
10
Peaks
186,021
Non-redundant peaks
106,601

TF Classification

Super Class
NA
Class
NA
Familly
NA
Sub Familly
NA

Source TFClass

External IDs

NCBI Gene
25836
Official Gene Name
NIPBL
JASPAR
Ensembl
ENSG00000164190
UniProt
Q6KC79
Genevisible
Q6KC79
RefSeq
NM_015384
Aliases
CDLS; CDLS1; DKFZp434L1319; FLJ11203; FLJ12597; FLJ13354; FLJ13648; IDN3; IDN3-B; Scc2
All peaks NIPBL
Download BED file
Non redundant peaks NIPBL
Download BED file
SEQUENCES NIPBL
Download FASTA file
DOWNLOAD All ReMap
Got to catalogue

Datasets Table for NIPBL

Target name Target modification Ecotype/Strain Biotype Biotype modification Source Species Experiment Peaks
NIPBL A-549 GEO Homo sapiens GSE76893 13,301
NIPBL WA09 GEO Homo sapiens GSE105028 4,084
NIPBL WA09 heat-shock GEO Homo sapiens GSE105028 2,056
NIPBL HEK293T WT GEO Homo sapiens GSE122299 1,845
NIPBL HEK293T CRISPR GEO Homo sapiens GSE122299 1,885
NIPBL HEK293T CRISPR-2 GEO Homo sapiens GSE122299 2,745
NIPBL MCF-7 GEO Homo sapiens GSE76893 6,857
NIPBL GM12878 GEO Homo sapiens GSE93080 24,979
NIPBL GP5D SIRAD21 GEO Homo sapiens GSE51234 4,500
NIPBL LCL GEO Homo sapiens GSE38395 11,191
NIPBL Hep-G2 GEO Homo sapiens GSE76893 7,544
NIPBL GP5D GEO Homo sapiens GSE51234 26,525
NIPBL hESC activin GEO Homo sapiens GSE64758 4,367
NIPBL hESC GEO Homo sapiens GSE64758 3,857
NIPBL hESC WNT3A GEO Homo sapiens GSE64758 4,106
NIPBL hESC WNT3A_ACTIVIN GEO Homo sapiens GSE64758 7,921
NIPBL HCT-116 RAD21-mAC GEO Homo sapiens GSE104888 28,029
NIPBL HCT-116 RAD21-mAC_500uM_auxin GEO Homo sapiens GSE104888 30,229
Target name Target modification Ecotype/Strain Biotype Biotype modification Source Species Experiment Peaks