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NIPBL cohesin loading factor

Summary

Gene Symbol

NIPBL

Organism

Homo sapiens (human)

External Links

NCBI Gene

25836

KEGG Gene ID

PubChem

25836

Alliance of Genome Resources

HGNC:28862

Annotation

Keyword

3D-structure
Acetylation
Activator
Alternative splicing
Cell cycle
Chromosome
Developmental protein
Disease variant
Intellectual disability
Nucleus
Phosphoprotein
Proteomics identification
Reference proteome
Repeat
Transcription regulation

Proteins

Displaying **all 2** entries
UniProt	Protein Name
A0A590UJS4
Q6KC79	Delangin SCC2 homolog

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 51 in total

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GO Term	Evidence Code	PMID
mitotic sister chromatid segregation	IEA
negative regulation of transcription by RNA polymerase II	IDA
metanephros development	NAS
heart morphogenesis	IMP
heart morphogenesis	IBA

GO Hierarchy

biological process

cellular process [inference]

metabolic process [inference]

macromolecule metabolic process [inference]

nucleic acid metabolic process [inference]

DNA metabolic process [inference]

DNA repair [inference]

recombinational repair [inference]

double-strand break repair via homologous recombination [inference]

replication-born double-strand break repair via sister chromatid exchange

double-strand break repair [inference]

double-strand break repair via homologous recombination [inference]

replication-born double-strand break repair via sister chromatid exchange

DNA recombination [inference]

recombinational repair [inference]

double-strand break repair via homologous recombination [inference]

replication-born double-strand break repair via sister chromatid exchange

primary metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleic acid metabolic process [inference]

DNA metabolic process [inference]

DNA repair [inference]

recombinational repair [inference]

double-strand break repair via homologous recombination [inference]

replication-born double-strand break repair via sister chromatid exchange

double-strand break repair [inference]

double-strand break repair via homologous recombination [inference]

replication-born double-strand break repair via sister chromatid exchange

DNA recombination [inference]

recombinational repair [inference]

double-strand break repair via homologous recombination [inference]

replication-born double-strand break repair via sister chromatid exchange

cell cycle process [inference]

chromosome segregation [inference]

nuclear chromosome segregation [inference]

sister chromatid segregation [inference]

mitotic sister chromatid segregation

sister chromatid cohesion [inference]

mitotic sister chromatid cohesion

establishment of sister chromatid cohesion [inference]

establishment of mitotic sister chromatid cohesion

maintenance of sister chromatid cohesion [inference]

maintenance of mitotic sister chromatid cohesion

mitotic cell cycle process [inference]

cellular developmental process [inference]

cell differentiation [inference]

fat cell differentiation

cellular response to stimulus [inference]

cellular response to stress [inference]

cellular response to DNA damage stimulus

DNA repair [inference]

recombinational repair [inference]

double-strand break repair via homologous recombination [inference]

replication-born double-strand break repair via sister chromatid exchange

double-strand break repair [inference]

double-strand break repair via homologous recombination [inference]

replication-born double-strand break repair via sister chromatid exchange

cellular response to environmental stimulus [inference]

cellular response to abiotic stimulus [inference]

cellular response to radiation [inference]

cellular response to ionizing radiation [inference]

cellular response to X-ray

cellular component organization or biogenesis [inference]

cellular component organization [inference]

chromatin organization [inference]

organelle organization [inference]

chromosome organization [inference]

sister chromatid segregation [inference]

mitotic sister chromatid segregation

sister chromatid cohesion [inference]

mitotic sister chromatid cohesion

reproductive process [inference]

developmental process involved in reproduction [inference]

genitalia morphogenesis [inference]

external genitalia morphogenesis

uterus morphogenesis

multicellular organismal process [inference]

system process [inference]

nervous system process [inference]

sensory perception [inference]

sensory perception of mechanical stimulus [inference]

sensory perception of sound

cognition

stem cell population maintenance [inference]

somatic stem cell population maintenance

developmental process [inference]

developmental process involved in reproduction [inference]

genitalia morphogenesis [inference]

external genitalia morphogenesis

uterus morphogenesis

anatomical structure morphogenesis [inference]

outflow tract morphogenesis

animal organ morphogenesis [inference]

heart morphogenesis

genitalia morphogenesis [inference]

external genitalia morphogenesis

embryonic organ morphogenesis

uterus morphogenesis

sensory organ morphogenesis [inference]

appendage morphogenesis [inference]

limb morphogenesis [inference]

embryonic limb morphogenesis [inference]

embryonic forelimb morphogenesis

forelimb morphogenesis

embryonic forelimb morphogenesis

embryonic appendage morphogenesis [inference]

embryonic limb morphogenesis [inference]

embryonic forelimb morphogenesis

embryonic morphogenesis [inference]

embryonic appendage morphogenesis [inference]

embryonic limb morphogenesis [inference]

embryonic forelimb morphogenesis

embryonic organ morphogenesis

embryonic viscerocranium morphogenesis

face morphogenesis

anatomical structure development [inference]

tube development [inference]

digestive tract development

animal organ development [inference]

kidney development [inference]

metanephros development

cellular developmental process [inference]

cell differentiation [inference]

fat cell differentiation

maintenance of cell number [inference]

stem cell population maintenance [inference]

somatic stem cell population maintenance

growth [inference]

developmental growth

response to stimulus [inference]

response to stress [inference]

cellular response to stress [inference]

cellular response to DNA damage stimulus

DNA repair [inference]

recombinational repair [inference]

double-strand break repair via homologous recombination [inference]

replication-born double-strand break repair via sister chromatid exchange

double-strand break repair [inference]

double-strand break repair via homologous recombination [inference]

replication-born double-strand break repair via sister chromatid exchange

response to abiotic stimulus [inference]

response to radiation [inference]

response to ionizing radiation [inference]

response to X-ray [inference]

cellular response to X-ray

cellular response to ionizing radiation [inference]

cellular response to X-ray

cellular response to radiation [inference]

cellular response to ionizing radiation [inference]

cellular response to X-ray

cellular response to abiotic stimulus [inference]

cellular response to radiation [inference]

cellular response to ionizing radiation [inference]

cellular response to X-ray

cellular response to stimulus [inference]

cellular response to stress [inference]

cellular response to DNA damage stimulus

DNA repair [inference]

recombinational repair [inference]

double-strand break repair via homologous recombination [inference]

replication-born double-strand break repair via sister chromatid exchange

double-strand break repair [inference]

double-strand break repair via homologous recombination [inference]

replication-born double-strand break repair via sister chromatid exchange

cellular response to environmental stimulus [inference]

cellular response to abiotic stimulus [inference]

cellular response to radiation [inference]

cellular response to ionizing radiation [inference]

cellular response to X-ray

localization [inference]

macromolecule localization [inference]

intracellular protein localization

establishment of localization [inference]

establishment of protein localization [inference]

establishment of protein localization to organelle [inference]

establishment of protein localization to chromosome [inference]

establishment of protein localization to chromatin

biological regulation [inference]

regulation of biological process [inference]

regulation of growth [inference]

positive regulation of growth [inference]

positive regulation of developmental growth [inference]

positive regulation of multicellular organism growth

regulation of developmental growth

regulation of multicellular organism growth [inference]

positive regulation of multicellular organism growth

positive regulation of developmental growth [inference]

positive regulation of multicellular organism growth

regulation of locomotion [inference]

positive regulation of locomotion [inference]

positive regulation of cell motility [inference]

positive regulation of cell migration [inference]

positive regulation of neuron migration

regulation of cell motility [inference]

regulation of cell migration [inference]

positive regulation of cell migration [inference]

positive regulation of neuron migration

regulation of neuron migration [inference]

positive regulation of neuron migration

positive regulation of cell motility [inference]

positive regulation of cell migration [inference]

positive regulation of neuron migration

positive regulation of biological process [inference]

positive regulation of locomotion [inference]

positive regulation of cell motility [inference]

positive regulation of cell migration [inference]

positive regulation of neuron migration

positive regulation of growth [inference]

positive regulation of developmental growth [inference]

positive regulation of multicellular organism growth

positive regulation of cellular process [inference]

positive regulation of metabolic process [inference]

positive regulation of biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of macromolecule metabolic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of cell motility [inference]

positive regulation of cell migration [inference]

positive regulation of neuron migration

positive regulation of developmental process [inference]

positive regulation of developmental growth [inference]

positive regulation of multicellular organism growth

positive regulation of multicellular organismal process [inference]

negative regulation of biological process [inference]

negative regulation of cellular process [inference]

negative regulation of metabolic process [inference]

negative regulation of biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription [inference]

negative regulation of transcription by RNA polymerase II

negative regulation of macromolecule metabolic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription [inference]

negative regulation of transcription by RNA polymerase II

negative regulation of RNA metabolic process [inference]

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription [inference]

negative regulation of transcription by RNA polymerase II

negative regulation of nucleobase-containing compound metabolic process [inference]

negative regulation of RNA metabolic process [inference]

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription [inference]

negative regulation of transcription by RNA polymerase II

regulation of developmental process [inference]

regulation of developmental growth

regulation of multicellular organism growth [inference]

positive regulation of multicellular organism growth

positive regulation of developmental growth [inference]

positive regulation of multicellular organism growth

positive regulation of developmental process [inference]

positive regulation of developmental growth [inference]

positive regulation of multicellular organism growth

regulation of multicellular organismal development [inference]

regulation of embryonic development

regulation of cellular process [inference]

regulation of metabolic process [inference]

regulation of biosynthetic process [inference]

negative regulation of biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription [inference]

negative regulation of transcription by RNA polymerase II

positive regulation of biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression

regulation of DNA-templated transcription [inference]

regulation of transcription by RNA polymerase II

negative regulation of DNA-templated transcription [inference]

negative regulation of transcription by RNA polymerase II

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription [inference]

negative regulation of transcription by RNA polymerase II

regulation of RNA biosynthetic process [inference]

regulation of DNA-templated transcription [inference]

regulation of transcription by RNA polymerase II

negative regulation of DNA-templated transcription [inference]

negative regulation of transcription by RNA polymerase II

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription [inference]

negative regulation of transcription by RNA polymerase II

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

negative regulation of metabolic process [inference]

negative regulation of biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription [inference]

negative regulation of transcription by RNA polymerase II

negative regulation of macromolecule metabolic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription [inference]

negative regulation of transcription by RNA polymerase II

negative regulation of RNA metabolic process [inference]

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription [inference]

negative regulation of transcription by RNA polymerase II

negative regulation of nucleobase-containing compound metabolic process [inference]

negative regulation of RNA metabolic process [inference]

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription [inference]

negative regulation of transcription by RNA polymerase II

positive regulation of metabolic process [inference]

positive regulation of biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of macromolecule metabolic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

regulation of macromolecule metabolic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression

regulation of DNA-templated transcription [inference]

regulation of transcription by RNA polymerase II

negative regulation of DNA-templated transcription [inference]

negative regulation of transcription by RNA polymerase II

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription [inference]

negative regulation of transcription by RNA polymerase II

regulation of RNA biosynthetic process [inference]

regulation of DNA-templated transcription [inference]

regulation of transcription by RNA polymerase II

negative regulation of DNA-templated transcription [inference]

negative regulation of transcription by RNA polymerase II

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription [inference]

negative regulation of transcription by RNA polymerase II

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of macromolecule metabolic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

negative regulation of macromolecule metabolic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription [inference]

negative regulation of transcription by RNA polymerase II

negative regulation of RNA metabolic process [inference]

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription [inference]

negative regulation of transcription by RNA polymerase II

regulation of RNA metabolic process [inference]

negative regulation of RNA metabolic process [inference]

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription [inference]

negative regulation of transcription by RNA polymerase II

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

regulation of RNA biosynthetic process [inference]

regulation of DNA-templated transcription [inference]

regulation of transcription by RNA polymerase II

negative regulation of DNA-templated transcription [inference]

negative regulation of transcription by RNA polymerase II

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription [inference]

negative regulation of transcription by RNA polymerase II

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

regulation of primary metabolic process [inference]

regulation of nucleobase-containing compound metabolic process [inference]

negative regulation of nucleobase-containing compound metabolic process [inference]

negative regulation of RNA metabolic process [inference]

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription [inference]

negative regulation of transcription by RNA polymerase II

regulation of RNA metabolic process [inference]

negative regulation of RNA metabolic process [inference]

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription [inference]

negative regulation of transcription by RNA polymerase II

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

regulation of RNA biosynthetic process [inference]

regulation of DNA-templated transcription [inference]

regulation of transcription by RNA polymerase II

negative regulation of DNA-templated transcription [inference]

negative regulation of transcription by RNA polymerase II

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription [inference]

negative regulation of transcription by RNA polymerase II

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of cellular process [inference]

positive regulation of metabolic process [inference]

positive regulation of biosynthetic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of macromolecule metabolic process [inference]

positive regulation of macromolecule biosynthetic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of RNA metabolic process [inference]

positive regulation of RNA biosynthetic process [inference]

positive regulation of DNA-templated transcription [inference]

positive regulation of transcription by RNA polymerase II

positive regulation of cell motility [inference]

positive regulation of cell migration [inference]

positive regulation of neuron migration

negative regulation of cellular process [inference]

negative regulation of metabolic process [inference]

negative regulation of biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription [inference]

negative regulation of transcription by RNA polymerase II

negative regulation of macromolecule metabolic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription [inference]

negative regulation of transcription by RNA polymerase II

negative regulation of RNA metabolic process [inference]

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription [inference]

negative regulation of transcription by RNA polymerase II

negative regulation of nucleobase-containing compound metabolic process [inference]

negative regulation of RNA metabolic process [inference]

negative regulation of RNA biosynthetic process [inference]

negative regulation of DNA-templated transcription [inference]

negative regulation of transcription by RNA polymerase II

regulation of cell motility [inference]

regulation of cell migration [inference]

positive regulation of cell migration [inference]

positive regulation of neuron migration

regulation of neuron migration [inference]

positive regulation of neuron migration

positive regulation of cell motility [inference]

positive regulation of cell migration [inference]

positive regulation of neuron migration

regulation of multicellular organismal process [inference]

regulation of ossification [inference]

positive regulation of ossification

regulation of multicellular organism growth [inference]

positive regulation of multicellular organism growth

regulation of hair cycle

positive regulation of multicellular organismal process [inference]

regulation of multicellular organismal development [inference]

regulation of embryonic development

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GO Term	Evidence Code	PMID
chromatin	IEA
nucleus	EXP
nucleus	IDA
nucleus	IEA
nucleoplasm	TAS

GO Hierarchy

cellular component

protein-containing complex [inference]

nuclear protein-containing complex [inference]

integrator complex

SMC loading complex

Scc2-Scc4 cohesin loading complex

cellular anatomical structure [inference]

organelle [inference]

membrane-bounded organelle [inference]

vesicle [inference]

extracellular vesicle [inference]

extracellular exosome

intracellular membrane-bounded organelle [inference]

nucleus

extracellular membrane-bounded organelle [inference]

extracellular vesicle [inference]

extracellular exosome

membraneless organelle [inference]

intracellular membraneless organelle [inference]

chromosome

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

nucleus

intracellular membraneless organelle [inference]

chromosome

extracellular organelle [inference]

extracellular membrane-bounded organelle [inference]

extracellular vesicle [inference]

extracellular exosome

Displaying entries **1 - 5** of 11 in total

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GO Term	Evidence Code	PMID
chromatin binding	IBA
chromatin binding	IEA
transcription corepressor activity	IDA
protein binding	IPI
mediator complex binding	IEA

GO Hierarchy

molecular function

catalytic activity [inference]

catalytic activity, acting on a nucleic acid [inference]

catalytic activity, acting on DNA [inference]

cohesin loader activity

binding [inference]

chromatin binding

promoter-specific chromatin binding

protein binding

enzyme binding [inference]

histone deacetylase binding

protein domain specific binding [inference]

chromo shadow domain binding

protein-containing complex binding [inference]

mediator complex binding

transcription regulator activity [inference]

transcription coregulator activity [inference]

transcription corepressor activity

Gene Ontology information from NCBI Gene and UniProt.

Disease

Disease Ontology

Displaying **all 2** entries
DO ID	Disease Name	Source
DOID:11725	Cornelia de Lange syndrome	Alliance of Genome Resources
DOID:0080505	Cornelia de Lange syndrome 1	Alliance of Genome Resources

Ortholog

Displaying 1 entry
Species	Gene ID	Alliance of Genome Resources
Mus musculus	71175	MGI:1913976

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

Other Information

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Summary

External Links

Annotation

International Collaboration

Acknowledgements