Entity Details

Primary name NIPBL_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ6KC79
EntryNameNIPBL_HUMAN
FullNameNipped-B-like protein
TaxID9606
Evidenceevidence at protein level
Length2804
SequenceStatuscomplete
DateCreated2004-07-19
DateModified2021-06-02

Ontological Relatives

GenesNIPBL

GO terms

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GOName
GO:0000122 negative regulation of transcription by RNA polymerase II
GO:0000785 chromatin
GO:0001656 metanephros development
GO:0003007 heart morphogenesis
GO:0003151 outflow tract morphogenesis
GO:0003682 chromatin binding
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005829 cytosol
GO:0006974 cellular response to DNA damage stimulus
GO:0007064 mitotic sister chromatid cohesion
GO:0007420 brain development
GO:0007605 sensory perception of sound
GO:0008022 protein C-terminus binding
GO:0019827 stem cell population maintenance
GO:0031065 positive regulation of histone deacetylation
GO:0032039 integrator complex
GO:0032116 SMC loading complex
GO:0034087 establishment of mitotic sister chromatid cohesion
GO:0034088 maintenance of mitotic sister chromatid cohesion
GO:0034613 cellular protein localization
GO:0035115 embryonic forelimb morphogenesis
GO:0035136 forelimb morphogenesis
GO:0035261 external genitalia morphogenesis
GO:0036033 mediator complex binding
GO:0040018 positive regulation of multicellular organism growth
GO:0042471 ear morphogenesis
GO:0042634 regulation of hair cycle
GO:0042826 histone deacetylase binding
GO:0043231 intracellular membrane-bounded organelle
GO:0045444 fat cell differentiation
GO:0045778 positive regulation of ossification
GO:0045892 negative regulation of transcription, DNA-templated
GO:0045995 regulation of embryonic development
GO:0047485 protein N-terminus binding
GO:0048557 embryonic digestive tract morphogenesis
GO:0048565 digestive tract development
GO:0048589 developmental growth
GO:0048592 eye morphogenesis
GO:0048638 regulation of developmental growth
GO:0048703 embryonic viscerocranium morphogenesis
GO:0050890 cognition
GO:0060325 face morphogenesis
GO:0061010 gall bladder development
GO:0061038 uterus morphogenesis
GO:0070062 extracellular exosome
GO:0070087 chromo shadow domain binding
GO:0071169 establishment of protein localization to chromatin
GO:0071481 cellular response to X-ray
GO:0071733 obsolete transcriptional activation by promoter-enhancer looping
GO:0071921 cohesin loading
GO:0090694 Scc2-Scc4 cohesin loading complex
GO:1905406 positive regulation of mitotic cohesin loading
GO:1990414 replication-born double-strand break repair via sister chromatid exchange
GO:1990841 promoter-specific chromatin binding
GO:2001224 positive regulation of neuron migration

Subcellular Location

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Subcellular Location
Chromosome
Nucleus

Domains

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DomainNameCategoryType
IPR011989 Armadillo-like helicalFamilyHomologous superfamily
IPR016024 Armadillo-type foldFamilyHomologous superfamily
IPR024986 Sister chromatid cohesion C-terminal domainDomainDomain
IPR026003 HEAT repeat associated with sister chromatid cohesion proteinRepeatRepeat
IPR033031 Scc2/Nipped-B familyFamilyFamily

Diseases

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Disease IDSourceNameDescription
122470 OMIMCornelia de Lange syndrome 1 (CDLS1)A form of Cornelia de Lange syndrome, a clinically heterogeneous developmental disorder associated with malformations affecting multiple systems. Characterized by facial dysmorphisms, abnormal hands and feet, growth delay, cognitive retardation, hirsutism, gastroesophageal dysfunction and cardiac, ophthalmologic and genitourinary anomalies. The disease is caused by variants affecting the gene represented in this entry.