Nipbl Gene Summary [Mouse]

Enables cohesin loader activity; mediator complex binding activity; and promoter-specific chromatin binding activity. Involved in mitotic sister chromatid segregation; positive regulation of neuron migration; and regulation of transcription by RNA polymerase II. Acts upstream of or within several processes, including embryonic viscerocranium morphogenesis; fat cell differentiation; and positive regulation of ossification. Located in chromatin and nucleus. Part of integrator complex. Is expressed in several structures, including genitourinary system; integumental system; limb; nervous system; and nose. Used to study Cornelia de Lange syndrome and Cornelia de Lange syndrome 1. Human ortholog(s) of this gene implicated in Cornelia de Lange syndrome and Cornelia de Lange syndrome 1. Orthologous to human NIPBL (NIPBL cohesin loading factor). [provided by Alliance of Genome Resources, Jul 2025]

Details

Type
Protein Coding
Official Symbol
Nipbl
Official Name
NIPBL cohesin loading factor [Source:MGI Symbol;Acc:MGI:1913976]
Ensembl ID
ENSMUSG00000022141
Bio databases IDs NCBI: 71175 Ensembl: ENSMUSG00000022141
Aliases NIPBL cohesin loading factor
Synonyms 4921518A06RIK, 4933421G18RIK, C79399, CDLS, CDLS1, IDN3, IDN3-B, LOC681423, NIPBL cohesin loading factor, NIPBL, cohesin loading factor, Scc2
Species
Mouse, Mus musculus
OrthologiesHumanRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Nipbl often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • transcription regulator
  • binding protein
  • HEAT repeat associated with sister chromatid cohesion
  • transcription co-repressor
  • histone deacetylase binding
  • protein domain specific binding
  • chromatin binding
  • enzyme
  • Sister chromatid cohesion protein 2 and homologs
  • protein binding
  • Intracellular hyaluronan-binding protein 4 N-terminal

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • Alzheimer disease
  • Wilms tumorigenesis
  • precursor B-cell acute lymphoblastic leukemia
  • metastasis
  • Cornelia de Lange syndrome type 1
  • hereditary disorder
  • myoclonus
  • idiopathic scoliosis
  • mental retardation
  • organismal death
regulated by
regulates
role in cell
  • expression in
  • migration
  • differentiation
  • invasion by
  • DNA damage response
  • ossification by
  • migration by
  • mitotic entry in
  • remodeling
  • segregation

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Nucleus
  • intracellular membrane-bounded organelle
  • cytosol
  • nucleoplasm
  • chromatin

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the mouse Nipbl gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • external genitalia morphogenesis
  • gall bladder development
  • protein localization
  • outflow tract morphogenesis
  • embryonic digestive tract morphogenesis
  • fat cell differentiation
  • uterus morphogenesis
  • positive regulation of transcription from RNA polymerase II promoter
  • positive regulation of multicellular organism growth
  • face morphogenesis
  • regulation of developmental growth
  • regulation of hair cycle
  • negative regulation of transcription from RNA polymerase II promoter
  • sensory perception of sound
  • chromatin remodeling
  • heart morphogenesis
  • cognition
  • digestive tract development
  • somatic stem cell maintenance
  • forelimb morphogenesis
  • embryonic forelimb morphogenesis
  • positive regulation of neuron migration
  • maintenance of mitotic sister chromatid cohesion
  • mitotic sister chromatid cohesion
  • establishment of mitotic sister chromatid cohesion
  • regulation of embryonic development
  • developmental growth
  • brain development
  • response to DNA damage stimulus
  • positive regulation of ossification
  • embryonic viscerocranium morphogenesis
  • cellular response to X-ray
  • eye morphogenesis
  • metanephros development
  • ear morphogenesis
  • mitotic sister chromatid segregation
  • establishment of protein localization to chromatin

Cellular Component

Where in the cell the gene product is active
  • nucleus
  • extracellular vesicular exosome
  • intracellular membrane-bounded organelle
  • cytosol
  • chromatin
  • SMC loading complex
  • nucleoplasm
  • integrator complex

Molecular Function

What the gene product does at the molecular level
  • protein binding
  • histone deacetylase binding
  • transcription corepressor activity
  • chromo shadow domain binding
  • mediator complex binding
  • chromatin binding

Gene-Specific Assays for Results You Can Trust

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