Nipbl - NIPBL cohesin loading factor Gene

Also Known as Idn3

Species: Mus musculus

Gene Type: protein coding

Gene ID: 71175

Summary

Enables mediator complex binding activity and promoter-specific chromatin binding activity. Involved in cohesin loading; 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. Human ortholog(s) of this gene implicated in Cornelia de Lange syndrome 1. Orthologous to human NIPBL (NIPBL cohesin loading factor). [provided by Alliance of Genome Resources, Apr 2022]

Nipbl Products (2)

mRNA	Protein	Name
NM_027707.3	NP_081983.2	nipped-B-like protein isoform a
NM_201232.2	NP_957684.1	nipped-B-like protein isoform b

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
enables chromatin binding	IDA IDA: Inferred from direct assay	20720539	MGI
enables cohesin loader activity	IMP IMP: Inferred from mutant phenotype	29094699	MGI
enables mediator complex binding	IDA IDA: Inferred from direct assay	20720539	MGI
enables promoter-specific chromatin binding	IDA IDA: Inferred from direct assay	28041881	MGI
enables protein binding	IPI IPI: Inferred from physical interaction	28041881	MGI

Biological Process GO Annotation	Evidence	Verweise	Source
acts upstream of or within embryonic cranial skeleton morphogenesis	IMP IMP: Inferred from mutant phenotype	19763162	MGI
acts upstream of or within embryonic viscerocranium morphogenesis	IMP IMP: Inferred from mutant phenotype	19763162	MGI
acts upstream of or within fat cell differentiation	IMP IMP: Inferred from mutant phenotype	19763162	MGI
acts upstream of or within heart development	IMP IMP: Inferred from mutant phenotype	19763162	MGI
involved in mitotic sister chromatid segregation	IMP IMP: Inferred from mutant phenotype	29094699	MGI
acts upstream of or within positive regulation of multicellular organism growth	IMP IMP: Inferred from mutant phenotype	19763162	MGI
involved in positive regulation of neuron migration	IMP IMP: Inferred from mutant phenotype	28041881	MGI
acts upstream of or within positive regulation of ossification	IMP IMP: Inferred from mutant phenotype	19763162	MGI
acts upstream of or within positive regulation of transcription by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	23920377	MGI
involved in regulation of transcription by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	28041881	MGI
acts upstream of or within somatic stem cell population maintenance	IMP IMP: Inferred from mutant phenotype	20720539	MGI

Cellular Component GO Annotation	Evidence	Verweise	Source
located in chromatin	IDA IDA: Inferred from direct assay	23920377	MGI
part of integrator complex	IDA IDA: Inferred from direct assay	28041881	MGI
located in nucleus	IDA IDA: Inferred from direct assay	29094699	MGI

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names	Protein Names
nipped-B-like protein	Nipped-B homolog SCC2 homolog delangin homolog

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS09305	NIPBL Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21000	Nipbl Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27517	Nipbl Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Homo sapiens	Nipbl	NCBI	NCBI:25836