Entity Details

Primary name NCKAP1L
Entity type gene
Source Source Link

Details

PrimaryID3071
RefseqGene
SymbolNCKAP1L
NameNCK associated protein 1 like
Chromosome12
Location12q13.13-q13.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1993-02-12
ModificationDate2021-06-19

Ontological Relatives

UniProt IDsNCKPL_HUMAN

GO terms

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GOName
GO:0000902 cell morphogenesis
GO:0001782 B cell homeostasis
GO:0002262 myeloid cell homeostasis
GO:0005096 GTPase activator activity
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0006935 chemotaxis
GO:0016020 membrane
GO:0016477 cell migration
GO:0030011 maintenance of cell polarity
GO:0030031 cell projection assembly
GO:0030295 protein kinase activator activity
GO:0030593 neutrophil chemotaxis
GO:0030667 secretory granule membrane
GO:0030838 positive regulation of actin filament polymerization
GO:0030866 cortical actin cytoskeleton organization
GO:0030890 positive regulation of B cell proliferation
GO:0031209 SCAR complex
GO:0032700 negative regulation of interleukin-17 production
GO:0032715 negative regulation of interleukin-6 production
GO:0033630 positive regulation of cell adhesion mediated by integrin
GO:0034101 erythrocyte homeostasis
GO:0035509 negative regulation of myosin-light-chain-phosphatase activity
GO:0038096 Fc-gamma receptor signaling pathway involved in phagocytosis
GO:0042102 positive regulation of T cell proliferation
GO:0042327 positive regulation of phosphorylation
GO:0042493 response to drug
GO:0043029 T cell homeostasis
GO:0043066 negative regulation of apoptotic process
GO:0043312 neutrophil degranulation
GO:0043372 positive regulation of CD4-positive, alpha-beta T cell differentiation
GO:0043378 positive regulation of CD8-positive, alpha-beta T cell differentiation
GO:0044877 protein-containing complex binding
GO:0045579 positive regulation of B cell differentiation
GO:0045588 positive regulation of gamma-delta T cell differentiation
GO:0045621 positive regulation of lymphocyte differentiation
GO:0045648 positive regulation of erythrocyte differentiation
GO:0048010 vascular endothelial growth factor receptor signaling pathway
GO:0048812 neuron projection morphogenesis
GO:0048821 erythrocyte development
GO:0050853 B cell receptor signaling pathway
GO:0060100 positive regulation of phagocytosis, engulfment
GO:0065003 protein-containing complex assembly
GO:0070062 extracellular exosome
GO:0070358 actin polymerization-dependent cell motility
GO:0090023 positive regulation of neutrophil chemotaxis
GO:0101003 ficolin-1-rich granule membrane

Diseases

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Disease IDSourceNameDescription
618982 OMIMImmunodeficiency 72 with autoinflammation (IMD72)An autosomal recessive immunologic disorder characterized by onset in the first year of life, recurrent bacterial and viral skin infections, severe respiratory tract infections leading to pneumonia and bronchiectasis, and poor specific antibody responses. Patients also exhibit atopic and inflammatory disease alongside chronic hepatosplenomegaly and lymphadenopathy, and autoimmune manifestations. The disease is caused by variants affecting the gene represented in this entry.