NIPBL information

NIPBL
Identifiers
Aliases	NIPBL, CDLS, CDLS1, IDN3, IDN3-B, Scc2, cohesin loading factor, NIPBL cohesin loading factor
External IDs	OMIM: 608667; MGI: 1913976; HomoloGene: 15850; GeneCards: NIPBL; OMA:NIPBL - orthologs
Gene location (Human)
Chr.	Chromosome 5 (human)
End	37,066,413 bp
Gene location (Mouse)
Chr.	Chromosome 15 (mouse)
End	8,473,947 bp
RNA expression pattern
	Top expressed in
	testicle; ; Achilles tendon; ; epithelium of colon; ; ventricular zone; ; ganglionic eminence; ; gonad; ; pancreatic ductal cell; ; internal globus pallidus; ; sural nerve; ; tendon of biceps brachii;
	Top expressed in
	Rostral migratory stream; ; internal carotid artery; ; maxillary prominence; ; external carotid artery; ; Paneth cell; ; human fetus; ; lacrimal gland; ; mandibular prominence; ; seminiferous tubule; ; hair follicle;
	More reference expression data
	n/a
Gene ontology
Molecular function	mediator complex binding; chromo shadow domain binding; protein N-terminus binding; histone deacetylase binding; chromatin binding; protein C-terminus binding; protein binding;
Cellular component	SMC loading complex; nucleoplasm; chromatin; extracellular exosome; nucleus; integrator complex; nuclear chromosome; chromosome; Scc2-Scc4 cohesin loading complex;
Biological process	positive regulation of histone deacetylation; forelimb morphogenesis; eye morphogenesis; regulation of embryonic development; cognition; uterus morphogenesis; cellular response to X-ray; regulation of developmental growth; heart morphogenesis; outflow tract morphogenesis; positive regulation of ossification; negative regulation of transcription by RNA polymerase II; hearing; cellular response to DNA damage stimulus; stem cell population maintenance; ear morphogenesis; heart development; brain development; developmental growth; external genitalia morphogenesis; regulation of hair cycle; positive regulation of multicellular organism growth; embryonic digestive tract morphogenesis; gall bladder development; regulation of gene expression; embryonic cranial skeleton morphogenesis; embryonic viscerocranium morphogenesis; cell cycle; metanephros development; negative regulation of transcription, DNA-templated; fat cell differentiation; maintenance of mitotic sister chromatid cohesion; embryonic forelimb morphogenesis; face morphogenesis; positive regulation of transcription by RNA polymerase II; regulation of transcription by RNA polymerase II; positive regulation of neuron migration; transcription, DNA-templated; regulation of transcription, DNA-templated; multicellular organism development; mitotic sister chromatid cohesion; double-strand break repair; mitotic chromosome condensation; establishment of mitotic sister chromatid cohesion; rDNA condensation; establishment of protein localization to chromatin; cohesin loading; positive regulation of mitotic cohesin loading; replication-born double-strand break repair via sister chromatid exchange;
	Sources:Amigo / QuickGO
Orthologs
	25836
	71175
	ENSG00000164190
	ENSMUSG00000022141
	Q6KC79
	Q6KCD5
	NM_015384; NM_133433
	NM_027707; NM_201232
	NP_056199; NP_597677
	NP_081983; NP_957684
	Wikidata
View/Edit Human	View/Edit Mouse

Nipped-B-like protein (NIPBL), also known as SCC2 or delangin is a protein that in humans is encoded by the NIPBL gene.^[5] NIPBL is required for the association of cohesin with DNA and is the major subunit of the cohesin loading complex.^[6] Heterozygous mutations in NIPBL account for an estimated 60% of case of Cornelia de Lange Syndrome.^[7]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000164190 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000022141 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Entrez Gene: Nipped-B homolog (Drosophila)".
^ Ciosk R, Shirayama M, Shevchenko A, Tanaka T, Toth A, Shevchenko A, Nasmyth K (2000). "Cohesin's binding to chromosomes depends on a separate complex consisting of Scc2 and Scc4 proteins". Molecular Cell. 5 (2): 243–54. doi:10.1016/S1097-2765(00)80420-7. PMID 10882066.
^ Rohatgi S, Clark D, Kline AD, Jackson LG, Pie J, Siu V, Ramos FJ, Krantz ID, Deardorff MA (July 2010). "Facial diagnosis of mild and variant CdLS: Insights from a dysmorphologist survey". American Journal of Medical Genetics. Part A. 152A (7): 1641–53. doi:10.1002/ajmg.a.33441. PMC 4133091. PMID 20583156.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000164190 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000022141 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] "Entrez Gene: Nipped-B homolog (Drosophila)".

[Ciosk_2000-6] Ciosk R, Shirayama M, Shevchenko A, Tanaka T, Toth A, Shevchenko A, Nasmyth K (2000). "Cohesin's binding to chromosomes depends on a separate complex consisting of Scc2 and Scc4 proteins". Molecular Cell. 5 (2): 243–54. doi:10.1016/S1097-2765(00)80420-7. PMID 10882066.

[7] Rohatgi S, Clark D, Kline AD, Jackson LG, Pie J, Siu V, Ramos FJ, Krantz ID, Deardorff MA (July 2010). "Facial diagnosis of mild and variant CdLS: Insights from a dysmorphologist survey". American Journal of Medical Genetics. Part A. 152A (7): 1641–53. doi:10.1002/ajmg.a.33441. PMC 4133091. PMID 20583156.

NIPBL information

and 13 Related for: NIPBL information

NIPBL

Cornelia de Lange syndrome

List of genetic disorders

WAPAL

Cohesin

Establishment of sister chromatid cohesion

Chromosome 5

Nuclear organization

RAD21

Acute megakaryoblastic leukemia

Transient myeloproliferative disease

GATA1

List of OMIM disorder codes