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Protein

Homeobox protein Nkx-2.6

Gene

NKX2-6

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Acts as a transcriptional activator (PubMed:15649947). In conjunction with NKX2-5, may play a role in both pharyngeal and cardiac embryonic development.By similarity1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi132 – 191HomeoboxPROSITE-ProRule annotationAdd BLAST60

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionActivator, Developmental protein, DNA-binding
Biological processTranscription, Transcription regulation

Names & Taxonomyi

Protein namesi
Recommended name:
Homeobox protein Nkx-2.6
Alternative name(s):
Homeobox protein NK-2 homolog F
Gene namesi
Name:NKX2-6
Synonyms:NKX2F
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi

Organism-specific databases

EuPathDBiHostDB:ENSG00000180053.7
HGNCiHGNC:32940 NKX2-6
MIMi611770 gene
neXtProtiNX_A6NCS4

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Conotruncal heart malformations (CTHM)4 Publications
The disease may be caused by mutations affecting the gene represented in this entry.
Disease descriptionA group of congenital heart defects involving the outflow tracts. Examples include truncus arteriosus communis, double-outlet right ventricle and transposition of great arteries. Truncus arteriosus communis is characterized by a single outflow tract instead of a separate aorta and pulmonary artery. In transposition of the great arteries, the aorta arises from the right ventricle and the pulmonary artery from the left ventricle. In double outlet of the right ventricle, both the pulmonary artery and aorta arise from the right ventricle.
See also OMIM:217095
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_063278151F → L in CTHM; impairs transcriptional activation. 1 PublicationCorresponds to variant dbSNP:rs267606914EnsemblClinVar.1
Natural variantiVAR_073164152K → Q in CTHM. 1 Publication1
Natural variantiVAR_073165176V → A in CTHM. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi137814
MalaCardsiNKX2-6
MIMi217095 phenotype
OpenTargetsiENSG00000180053
Orphaneti3426 Double outlet right ventricle
334 Familial atrial fibrillation
99097 Single ventricular septal defect
3303 Tetralogy of Fallot
3384 Truncus arteriosus

Polymorphism and mutation databases

BioMutaiNKX2-6

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003002621 – 301Homeobox protein Nkx-2.6Add BLAST301

Proteomic databases

EPDiA6NCS4
PaxDbiA6NCS4
PRIDEiA6NCS4

PTM databases

iPTMnetiA6NCS4
PhosphoSitePlusiA6NCS4

Expressioni

Gene expression databases

BgeeiENSG00000180053
CleanExiHS_NKX2-6

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000320089

Structurei

3D structure databases

ProteinModelPortaliA6NCS4
SMRiA6NCS4
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi59 – 63Poly-Gly5

Sequence similaritiesi

Belongs to the NK-2 homeobox family.Curated

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiKOG0842 Eukaryota
ENOG410XR21 LUCA
GeneTreeiENSGT00910000144003
HOGENOMiHOG000231923
HOVERGENiHBG006689
InParanoidiA6NCS4
KOiK09346
OMAiSPENFQY
OrthoDBiEOG091G0LZ2
PhylomeDBiA6NCS4
TreeFamiTF351204

Family and domain databases

CDDicd00086 homeodomain, 1 hit
InterProiView protein in InterPro
IPR009057 Homeobox-like_sf
IPR017970 Homeobox_CS
IPR001356 Homeobox_dom
IPR020479 Homeobox_metazoa
PfamiView protein in Pfam
PF00046 Homeobox, 1 hit
PRINTSiPR00024 HOMEOBOX
SMARTiView protein in SMART
SM00389 HOX, 1 hit
SUPFAMiSSF46689 SSF46689, 1 hit
PROSITEiView protein in PROSITE
PS00027 HOMEOBOX_1, 1 hit
PS50071 HOMEOBOX_2, 1 hit

Sequencei

Sequence statusi: Complete.

A6NCS4-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MLLSPVTSTP FSVKDILRLE RERSCPAASP HPRVRKSPEN FQYLRMDAEP
60 70 80 90 100
RGSEVHNAGG GGGDRKLDGS EPPGGPCEAV LEMDAERMGE PQPGLNAASP
110 120 130 140 150
LGGGTRVPER GVGNSGDSVR GGRSEQPKAR QRRKPRVLFS QAQVLALERR
160 170 180 190 200
FKQQRYLSAP EREHLASALQ LTSTQVKIWF QNRRYKCKRQ RQDKSLELAG
210 220 230 240 250
HPLTPRRVAV PVLVRDGKPC LGPGPGAPAF PSPYSAAVSP YSCYGGYSGA
260 270 280 290 300
PYGAGYGTCY AGAPSGPAPH TPLASAGFGH GGQNATPQGH LAATLQGVRA

W
Length:301
Mass (Da):32,121
Last modified:July 24, 2007 - v1
Checksum:iBA3FECFC7F1804EA
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti199A → G in CN272646 (PubMed:15146197).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_063278151F → L in CTHM; impairs transcriptional activation. 1 PublicationCorresponds to variant dbSNP:rs267606914EnsemblClinVar.1
Natural variantiVAR_073164152K → Q in CTHM. 1 Publication1
Natural variantiVAR_073165176V → A in CTHM. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC012574 Genomic DNA No translation available.
CN272646 mRNA No translation available.
RefSeqiNP_001129743.2, NM_001136271.2
UniGeneiHs.532654

Genome annotation databases

EnsembliENST00000325017; ENSP00000320089; ENSG00000180053
GeneIDi137814
KEGGihsa:137814
UCSCiuc011kzy.3 human

Entry informationi

Entry nameiNKX26_HUMAN
AccessioniPrimary (citable) accession number: A6NCS4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 11, 2007
Last sequence update: July 24, 2007
Last modified: May 23, 2018
This is version 94 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

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