Entity Details

Primary name NKX21_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP43699
EntryNameNKX21_HUMAN
FullNameHomeobox protein Nkx-2.1
TaxID9606
Evidenceevidence at protein level
Length371
SequenceStatuscomplete
DateCreated1995-11-01
DateModified2021-06-02

Ontological Relatives

GenesNKX2-1

GO terms

Show/Hide Table
GOName
GO:0000122 negative regulation of transcription by RNA polymerase II
GO:0000785 chromatin
GO:0000976 transcription cis-regulatory region binding
GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding
GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific
GO:0001161 intronic transcription regulatory region sequence-specific DNA binding
GO:0001764 neuron migration
GO:0003677 DNA binding
GO:0003700 DNA-binding transcription factor activity
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005667 transcription regulator complex
GO:0006357 regulation of transcription by RNA polymerase II
GO:0006644 phospholipid metabolic process
GO:0007411 axon guidance
GO:0007420 brain development
GO:0007492 endoderm development
GO:0007626 locomotory behavior
GO:0008134 transcription factor binding
GO:0009725 response to hormone
GO:0010628 positive regulation of gene expression
GO:0010719 negative regulation of epithelial to mesenchymal transition
GO:0019899 enzyme binding
GO:0021759 globus pallidus development
GO:0021766 hippocampus development
GO:0021795 cerebral cortex cell migration
GO:0021798 forebrain dorsal/ventral pattern formation
GO:0021877 forebrain neuron fate commitment
GO:0021892 cerebral cortex GABAergic interneuron differentiation
GO:0021983 pituitary gland development
GO:0030154 cell differentiation
GO:0030324 lung development
GO:0030336 negative regulation of cell migration
GO:0030512 negative regulation of transforming growth factor beta receptor signaling pathway
GO:0030878 thyroid gland development
GO:0030900 forebrain development
GO:0031128 developmental induction
GO:0033327 Leydig cell differentiation
GO:0042753 positive regulation of circadian rhythm
GO:0045892 negative regulation of transcription, DNA-templated
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription by RNA polymerase II
GO:0048511 rhythmic process
GO:0048646 anatomical structure formation involved in morphogenesis
GO:0048709 oligodendrocyte differentiation
GO:0060430 lung saccule development
GO:0060441 epithelial tube branching involved in lung morphogenesis
GO:0060486 club cell differentiation
GO:0060510 type II pneumocyte differentiation

Subcellular Location

Show/Hide Table
Subcellular Location
Nucleus

Domains

Show/Hide Table
DomainNameCategoryType
IPR001356 Homeobox domainDomainDomain
IPR009057 Homeobox-like domain superfamilyFamilyHomologous superfamily
IPR017970 Homeobox, conserved siteSiteConserved site
IPR020479 Homeobox domain, metazoaDomainDomain

Diseases

Show/Hide Table
Disease IDSourceNameDescription
118700 OMIMChorea, hereditary benign (BHC)A rare autosomal dominant movement disorder, defined by early onset in childhood, a stable or non-progressive course of chorea, and no mental deterioration. Chorea is characterized by involuntary, forcible, rapid, jerky movements that may be subtle or become confluent, markedly altering normal patterns of movement. The disease is caused by variants affecting the gene represented in this entry.
610978 OMIMChoreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction (CAHTP)An autosomal dominant disorder that manifests in infancy with neurological disturbances, hypothyroidism, and respiratory problems. It is characterized by movement abnormalities beginning with muscular hypotonia followed by the development of chorea, athetosis, dystonia, ataxia, and dysarthria. The disease is caused by variants affecting the gene represented in this entry.
188550 OMIMThyroid cancer, non-medullary, 1 (NMTC1)A form of non-medullary thyroid cancer (NMTC), a cancer characterized by tumors originating from the thyroid follicular cells. NMTCs represent approximately 95% of all cases of thyroid cancer and are classified into papillary, follicular, Hurthle cell, and anaplastic neoplasms. Disease susceptibility is associated with variants affecting the gene represented in this entry.

Interactions

32 interactions

InteractorPartnerSourcesPublicationsLink
NKX21_HUMANTAP26_HUMANUniProt11152647 details
NKX21_HUMANABL1_HUMANIntAct17474147 details
NKX21_HUMANCRK_HUMANIntAct17474147 details
NKX21_HUMANSRC_HUMANIntAct17474147 details
NKX21_HUMANFYN_HUMANIntAct17474147 details
NKX21_HUMANGRB2_HUMANIntAct17474147 details
NKX21_HUMANNCK1_HUMANIntAct17474147 details
NKX21_HUMANSMAD3_HUMANIntAct18003659 details
NKX21_HUMANFOXA1_HUMANBioGRID, IntAct17220277 18003659 28192407 details
NKX21_HUMANRARA_HUMANBioGRID, HPRD10617585 11274148 details
NKX21_HUMANNCOA2_HUMANBioGRID, HPRD10617585 details
NKX21_HUMANHIPK2_HUMANBioGRID, HPRD11438542 details
NKX21_HUMANCAVN1_HUMANBioGRID9582279 details
NKX21_HUMANNCOA3_HUMANBioGRID11076796 15449938 details
NKX21_HUMANCBP_HUMANBioGRID, HPRD11076796 11713256 15449938 details
NKX21_HUMANPAX8_HUMANBioGRID, HPRD12441357 14970209 details
NKX21_HUMANCALR_HUMANBioGRID, HPRD9988700 details
NKX21_HUMANNCOA1_HUMANBioGRID, HPRD11076796 11713256 15449938 details
NKX21_HUMANTDG_HUMANHPRD11438542 details
NKX21_HUMANGATA6_HUMANHPRD11733512 details
NKX21_HUMANTF65_HUMANBioGRID, HPRD12040027 details
NKX21_HUMANDDB1_HUMANBioGRID28192407 details
NKX21_HUMANHXB5_HUMANBioGRID21677782 details
NKX21_HUMANPARP1_HUMANBioGRID28192407 details
NKX21_HUMANPCNA_HUMANBioGRID28192407 details
NKX21_HUMANPRKDC_HUMANBioGRID28192407 details
NKX21_HUMANRFA2_HUMANBioGRID28192407 details
NKX21_HUMANWRN_HUMANBioGRID28192407 details
NKX21_HUMANXRCC5_HUMANBioGRID28192407 details
NKX21_HUMANFOXA2_HUMANBioGRID17220277 details
NKX21_HUMANMK01_HUMANHPRD10733581 details
NKX21_HUMANWWTR1_HUMANHPRD14970209 details