Gene details
Basic gene annotations are collected from Uniprot and displayed with links to original sources. A quick link to explore the genomic context with Uniprot Browser is available.
NIPBL - NIPBL cohesin loading factor
Function
Plays an important role in the loading of the cohesin complex on to DNA. Forms a heterodimeric complex (also known as cohesin loading complex) with MAU2/SCC4 which mediates the loading of the cohesin complex onto chromatin (PubMed:22628566, PubMed:28914604). Plays a role in cohesin loading at sites of DNA damage. Its recruitment to double-strand breaks (DSBs) sites occurs in a CBX3-, RNF8- and RNF168-dependent manner whereas its recruitment to UV irradiation-induced DNA damage sites occurs in a ATM-, ATR-, RNF8- and RNF168-dependent manner (PubMed:28167679). Along with ZNF609, promotes cortical neuron migration during brain development by regulating the transcription of crucial genes in this process. Preferentially binds promoters containing paused RNA polymerase II. Up-regulates the expression of SEMA3A, NRP1, PLXND1 and GABBR2 genes, among others (By similarity).
Uniprot Browser| Entrez ID | EnsEMBL ID | Preferred Name | Uniprot ID |
|---|---|---|---|
| 25836 | ENSG00000164190 | NIPBL | Q6KC79 |
Gene Regulons
A gene can be associated with multiple causal flows as a member of multiple regulons