Nipbl Gene Search Result

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16 records found for search term Nipbl

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RGD ID	Symbol	Name	Description	Chr	Start	Stop	Species	Annotations	Match	Type
1306393	Nipbl	NIPBL, cohesin loading factor	ENCODES a protein that exhibits chromatin binding (ortholog); chromo shadow domain binding (ortholog); cohesin loader activity (ortholog); INVOLVED IN brain development (ortholog); cellular response to X-ray (ortholog); chromatin remodeling (ortholog); ASSOCIATED WITH bone development disease (ortho ... (more) log); brachydactyly (ortholog); Chromosome Breakage (ortholog); FOUND IN chromatin (ortholog); integrator complex (ortholog); nucleoplasm (ortholog); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 6-propyl-2-thiouracil; acrylamide	2	59126676	59314841	Rat	234	symbol , PhenoGen , name	gene, protein-coding, VALIDATED [RefSeq]
1550472	Nipbl	NIPBL cohesin loading factor	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 pr ... (more) ocesses, 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]	15	8319308	8494799	Mouse	328	symbol , PhenoGen , name , description	gene, protein-coding, VALIDATED [RefSeq]
1604032	NIPBL	NIPBL cohesin loading factor	This gene encodes the homolog of the Drosophila melanogaster Nipped-B gene product and fungal Scc2-type sister chromatid cohesion proteins. The Drosophila protein facilitates enhancer-promoter communication of remote enhancers and plays a role in developmental regulation. It is also homologous to a ... (more) family of chromosomal adherins with broad roles in sister chromatid cohesion, chromosome condensation, and DNA repair. The human protein has a bipartite nuclear targeting sequence and a putative HEAT repeat. Condensins, cohesins and other complexes with chromosome-related functions also contain HEAT repeats. Mutations in this gene result in Cornelia de Lange syndrome, a disorder characterized by dysmorphic facial features, growth delay, limb reduction defects, and cognitive disability. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]	5	36876769	37066413	Human	614	symbol , old_gene_name , COSMIC , name , Human Proteome Map	gene, protein-coding, REVIEWED [RefSeq]
8991608	Nipbl	NIPBL cohesin loading factor	ENCODES a protein that exhibits chromatin binding (ortholog); chromo shadow domain binding (ortholog); cohesin loader activity (ortholog); INVOLVED IN brain development (ortholog); cellular response to X-ray (ortholog); chromatin remodeling (ortholog); ASSOCIATED WITH bone development disease (ortho ... (more) log); brachydactyly (ortholog); Chromosome Breakage (ortholog); FOUND IN chromatin (ortholog); integrator complex (ortholog); nucleoplasm (ortholog)	NW_004955426	21666958	21841515	Chinchilla	79	symbol , old_gene_name , name	gene, protein-coding, MODEL [RefSeq]
11859846	NIPBL	NIPBL cohesin loading factor	ENCODES a protein that exhibits chromatin binding (inferred); chromo shadow domain binding (inferred); cohesin loader activity (inferred); INVOLVED IN embryonic cranial skeleton morphogenesis (ortholog); embryonic viscerocranium morphogenesis (ortholog); fat cell differentiation (ortholog); ASSOCIAT ... (more) ED WITH bone development disease (ortholog); brachydactyly (ortholog); Chromosome Breakage (ortholog); FOUND IN chromatin (inferred); integrator complex (inferred); nucleoplasm (inferred)	5	73306527	73491367	Bonobo	93	symbol , old_gene_name , name	gene, protein-coding, MODEL [RefSeq]
12271119	NIPBL	NIPBL cohesin loading factor	ENCODES a protein that exhibits chromatin binding (inferred); chromo shadow domain binding (inferred); cohesin loader activity (inferred); INVOLVED IN embryonic cranial skeleton morphogenesis (ortholog); embryonic viscerocranium morphogenesis (ortholog); fat cell differentiation (ortholog); ASSOCIAT ... (more) ED WITH bone development disease (ortholog); brachydactyly (ortholog); Chromosome Breakage (ortholog); FOUND IN chromatin (inferred); integrator complex (inferred); nucleoplasm (inferred)	4	71583118	71780986	Dog	93	symbol , old_gene_name , name	gene, protein-coding, MODEL [RefSeq]
12660445	Nipbl	NIPBL cohesin loading factor	ENCODES a protein that exhibits chromatin binding (inferred); chromo shadow domain binding (inferred); cohesin loader activity (inferred); INVOLVED IN embryonic cranial skeleton morphogenesis (ortholog); embryonic viscerocranium morphogenesis (ortholog); fat cell differentiation (ortholog); ASSOCIAT ... (more) ED WITH bone development disease (ortholog); brachydactyly (ortholog); Chromosome Breakage (ortholog); FOUND IN chromatin (inferred); integrator complex (inferred); nucleoplasm (inferred)	NW_004936518	4870686	5041099	Squirrel	93	symbol , old_gene_name , name	gene, protein-coding, MODEL [RefSeq]
14214460	NIPBL	NIPBL cohesin loading factor	ENCODES a protein that exhibits chromatin binding (inferred); chromo shadow domain binding (inferred); cohesin loader activity (inferred); INVOLVED IN embryonic cranial skeleton morphogenesis (ortholog); embryonic viscerocranium morphogenesis (ortholog); fat cell differentiation (ortholog); ASSOCIAT ... (more) ED WITH bone development disease (ortholog); brachydactyly (ortholog); Chromosome Breakage (ortholog); FOUND IN chromatin (inferred); integrator complex (inferred); nucleoplasm (inferred)				Pig	93	symbol , name	gene, protein-coding, MODEL [RefSeq]
18352236	NIPBL	NIPBL cohesin loading factor	ENCODES a protein that exhibits chromatin binding (inferred); chromo shadow domain binding (inferred); cohesin loader activity (inferred); INVOLVED IN embryonic cranial skeleton morphogenesis (ortholog); embryonic viscerocranium morphogenesis (ortholog); fat cell differentiation (ortholog); ASSOCIAT ... (more) ED WITH bone development disease (ortholog); brachydactyly (ortholog); Chromosome Breakage (ortholog); FOUND IN chromatin (inferred); integrator complex (inferred); nucleoplasm (inferred)				Green Monkey	93	symbol , name	gene, protein-coding, MODEL [RefSeq]
626067953	Nipbl	NIPBL cohesin loading factor	ENCODES a protein that exhibits chromatin binding (ortholog); chromo shadow domain binding (ortholog); cohesin loader activity (ortholog); INVOLVED IN brain development (ortholog); cellular response to X-ray (ortholog); chromatin remodeling (ortholog); ASSOCIATED WITH bone development disease (ortho ... (more) log); brachydactyly (ortholog); Chromosome Breakage (ortholog); FOUND IN chromatin (ortholog); integrator complex (ortholog); nucleoplasm (ortholog)				Black Rat	79	symbol , name	gene, protein-coding, MODEL [RefSeq]
18907551	Nipbl	NIPBL cohesin loading factor	ENCODES a protein that exhibits chromo shadow domain binding (ortholog); histone deacetylase binding (ortholog); transcription corepressor activity (ortholog); INVOLVED IN cellular response to X-ray (ortholog); chromatin remodeling (ortholog); cognition (ortholog); ASSOCIATED WITH bone development d ... (more) isease (ortholog); brachydactyly (ortholog); Chromosome Breakage (ortholog); FOUND IN nucleoplasm (ortholog); SMC loading complex (ortholog)				Naked Mole-Rat	90	symbol , name	gene, protein-coding, MODEL [RefSeq]
155234431	nipbl						Tropical Clawed Frog		symbol	gene, null
155240217	nipbl.L						African Clawed Frog		symbol	gene, null
155237183	nipbl.S						African Clawed Frog		symbol	gene, null
9586206	NIPBL-DT	NIPBL divergent transcript	INTERACTS WITH acrolein; alpha-pinene; fipronil	5	36871361	36876694	Human	6	symbol , old_gene_name , COSMIC , name , Human Proteome Map , old_gene_symbol	gene, ncrna, VALIDATED [RefSeq]
16559654	AP005902.1	Nipped-B homolog (Drosophila) (NIPBL) pseudogene					Human		name	gene, processed_pseudogene