NIPBL report

I. Expression across cell types

II. Expression across tissues

III. Associated gene sets

GO_0061780Biological processmitotic cohesin loading
GO_0048592Biological processeye morphogenesis
GO_0007605Biological processsensory perception of sound
GO_1990414Biological processreplication-born double-strand break repair via sister chromatid exchange
GO_0003151Biological processoutflow tract morphogenesis
GO_0045995Biological processregulation of embryonic development
GO_0035261Biological processexternal genitalia morphogenesis
GO_0035136Biological processforelimb morphogenesis
GO_0000070Biological processmitotic sister chromatid segregation
GO_0007064Biological processmitotic sister chromatid cohesion
GO_0061010Biological processgallbladder development
GO_0001656Biological processmetanephros development
GO_0071169Biological processestablishment of protein localization to chromatin
GO_2001224Biological processpositive regulation of neuron migration
GO_0006974Biological processDNA damage response
GO_0061038Biological processuterus morphogenesis
GO_0034087Biological processestablishment of mitotic sister chromatid cohesion
GO_0000122Biological processnegative regulation of transcription by RNA polymerase II
GO_0006338Biological processchromatin remodeling
GO_0035115Biological processembryonic forelimb morphogenesis
GO_0048703Biological processembryonic viscerocranium morphogenesis
GO_0034088Biological processmaintenance of mitotic sister chromatid cohesion
GO_0071481Biological processcellular response to X-ray
GO_0048638Biological processregulation of developmental growth
GO_0048557Biological processembryonic digestive tract morphogenesis
GO_0042634Biological processregulation of hair cycle
GO_0048565Biological processdigestive tract development
GO_0007420Biological processbrain development
GO_0050890Biological processcognition
GO_0048589Biological processdevelopmental growth
GO_0008104Biological processprotein localization
GO_0042471Biological processear morphogenesis
GO_0045778Biological processpositive regulation of ossification
GO_0060325Biological processface morphogenesis
GO_0003007Biological processheart morphogenesis
GO_0040018Biological processpositive regulation of multicellular organism growth
GO_0045444Biological processfat cell differentiation
GO_0045944Biological processpositive regulation of transcription by RNA polymerase II
GO_0035019Biological processsomatic stem cell population maintenance
GO_0090694Cellular componentScc2-Scc4 cohesin loading complex
GO_0070062Cellular componentextracellular exosome
GO_0005654Cellular componentnucleoplasm
GO_0032116Cellular componentSMC loading complex
GO_0005829Cellular componentcytosol
GO_0043231Cellular componentintracellular membrane-bounded organelle
GO_0032039Cellular componentintegrator complex
GO_0000785Cellular componentchromatin
GO_0005634Cellular componentnucleus
GO_0061775Molecular functioncohesin loader activity
GO_1990841Molecular functionpromoter-specific chromatin binding
GO_0003682Molecular functionchromatin binding
GO_0070087Molecular functionchromo shadow domain binding
GO_0003714Molecular functiontranscription corepressor activity
GO_0042826Molecular functionhistone deacetylase binding
GO_0036033Molecular functionmediator complex binding
GO_0005515Molecular functionprotein binding

IV. Literature review

[source]
Gene nameNIPBL
Protein nameNipped-B protein
NIPBL cohesin loading factor
Nipped-B-like protein (Delangin) (SCC2 homolog)
NIPBL protein
SynonymsSCC2
IDN3
DescriptionFUNCTION: Plays an important role in the loading of the cohesin complex on to DNA. Forms a heterodimeric complex (also known as cohesin loading complex) with MAU2/SCC4 which mediates the loading of the cohesin complex onto chromatin . Plays a role in cohesin loading at sites of DNA damage. Its recruitment to double-strand breaks (DSBs) sites occurs in a CBX3-, RNF8- and RNF168-dependent manner whereas its recruitment to UV irradiation-induced DNA damage sites occurs in a ATM-, ATR-, RNF8- and RNF168-dependent manner . Along with ZNF609, promotes cortical neuron migration during brain development by regulating the transcription of crucial genes in this process. Preferentially binds promoters containing paused RNA polymerase II. Up-regulates the expression of SEMA3A, NRP1, PLXND1 and GABBR2 genes, among others (By similarity). .

AccessionsA6QL62
ENST00000282516.13 [Q6KC79-1]
Q6KC79
H0Y8M3
A0A590UJS4
Q6IEH8
ENST00000448238.2 [Q6KC79-2]
ENST00000513819.1
A2RRA7
ENST00000652901.1