NIPBL

Chr 5p13.2

NIPBL cohesin loading factor

Aliases:: IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354
MANE:: ENST00000282516.13

OMIM: 608667 ↗NCBI: 25836 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

NIPBL · Q6KC79-2isoform

No predicted structure exists for the canonical Q6KC79 sequence; metrics below describe this isoform.

v62025-08-01

Predicted Aligned Error matrix for NIPBL — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

57.8/ 100

Low

2,697 residues

Confidence breakdown

Very high(≥ 90)21%
Confident(70–90)24%
Low(50–70)7%
Very low(< 50)48%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

CAKUT
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Clefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
IUGR and IGF abnormalities
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Limb disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Radial dysplasia
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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Disease associations (Open Targets)

Cornelia de Lange syndrome
0.86
hereditary disease
0.54
Dislocated radial head
0.46
Intellectual disability
0.38
low grade glioma
0.37
microcephaly
0.34
cleft palate
0.34
Abnormal brain morphology
0.34
Tetralogy of Fallot
0.34
liver disorder
0.32

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Nipped-B-like protein

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)