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Gene: NIPBL (NIPBL cohesin loading factor) Homo sapiens
Symbol: NIPBL
Name: NIPBL cohesin loading factor
CRRD ID: 1604032
Description: Exhibits several functions, including chromo shadow domain binding activity; histone deacetylase binding activity; and protein C-terminus binding activity. Involved in several processes, including animal organ development; cellular response to X-ray; and sister chromatid cohesion. Localizes to Scc2-Scc4 cohesin loading complex; cytosol; and nucleoplasm. Implicated in Cornelia de Lange syndrome 1.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CDLS; CDLS1; delangin; DKFZp434L1319; FLJ11203; FLJ12597; FLJ13354; FLJ13648; FLJ44854; IDN3; IDN3-B; NIPBL, cohesin loading factor; Nipped-B homolog; Nipped-B homolog (Drosophila); nipped-B-like protein; Scc2; SCC2 homolog; sister chromatid cohesion 2 homolog
Mus musculus (house mouse) : Nipbl (NIPBL cohesin loading factor)  MGI  Alliance
Rattus norvegicus (Norway rat) : Nipbl (NIPBL, cohesin loading factor)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Nipbl (NIPBL cohesin loading factor)
Pan paniscus (bonobo/pygmy chimpanzee) : NIPBL (NIPBL cohesin loading factor)
Canis lupus familiaris (dog) : NIPBL (NIPBL cohesin loading factor)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Nipbl (NIPBL cohesin loading factor)
Sus scrofa (pig) : NIPBL (NIPBL cohesin loading factor)
Chlorocebus sabaeus (African green monkey) : NIPBL (NIPBL cohesin loading factor)
Heterocephalus glaber (naked mole-rat) : Nipbl (NIPBL cohesin loading factor)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh38.p13 Ensembl536,876,769 - 37,066,413 (+)EnsemblGRCh38hg38GRCh38
GRCh38536,876,769 - 37,066,413 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37536,876,861 - 37,065,926 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36536,912,742 - 37,101,678 (+)NCBINCBI36hg18NCBI36
Celera536,763,790 - 36,952,889 (+)NCBI
Cytogenetic Map5p13.2NCBI
HuRef536,829,492 - 37,018,602 (+)NCBIHuRef
CHM1_1536,879,597 - 37,068,738 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations
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References - curated
References - uncurated


Comparative Map Data
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RNA-SEQ Expression


Nucleotide Sequences
Protein Sequences
Clinical Variants