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Protein

Homeobox protein Nkx-2.6

Gene

NKX2-6

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

In conjunction with NKX2-5, may play a role in both pharyngeal and cardiac embryonic development.By similarity

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi132 – 19160HomeoboxPROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  1. sequence-specific DNA binding Source: InterPro
  2. sequence-specific DNA binding transcription factor activity Source: HGNC

GO - Biological processi

  1. atrial cardiac muscle cell development Source: BHF-UCL
  2. cell differentiation Source: BHF-UCL
  3. digestive tract development Source: BHF-UCL
  4. embryonic heart tube development Source: HGNC
  5. hypothalamus development Source: BHF-UCL
  6. negative regulation of apoptotic process Source: BHF-UCL
  7. pericardium development Source: BHF-UCL
  8. pharyngeal system development Source: BHF-UCL
  9. positive regulation of cell proliferation Source: BHF-UCL
  10. tongue development Source: BHF-UCL
  11. transcription, DNA-templated Source: HGNC
  12. ventricular cardiac muscle cell development Source: BHF-UCL
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Ligandi

DNA-binding

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
ProteomesiUP000005640 Componenti: Chromosome 8

Organism-specific databases

HGNCiHGNC:32940. NKX2-6.

Subcellular locationi

Nucleus Curated

GO - Cellular componenti

  1. nucleus Source: HGNC
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Conotruncal heart malformations (CTHM)1 Publication

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti151 – 1511F → L in CTHM. 1 Publication
VAR_063278

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi217095. phenotype.
Orphaneti3426. Double outlet right ventricle.
334. Familial atrial fibrillation.
99097. Single ventricular septal defect.
3303. Tetralogy of Fallot.
3384. Truncus arteriosus.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 301301Homeobox protein Nkx-2.6PRO_0000300262Add
BLAST

Proteomic databases

PaxDbiA6NCS4.
PRIDEiA6NCS4.

PTM databases

PhosphoSiteiA6NCS4.

Expressioni

Gene expression databases

CleanExiHS_NKX2-6.
GenevestigatoriA6NCS4.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000402231.

Structurei

3D structure databases

ProteinModelPortaliA6NCS4.
SMRiA6NCS4. Positions 132-186.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi59 – 635Poly-Gly

Sequence similaritiesi

Belongs to the NK-2 homeobox family.Curated
Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiNOG301183.
GeneTreeiENSGT00760000118779.
HOGENOMiHOG000231923.
HOVERGENiHBG006689.
InParanoidiA6NCS4.
KOiK09346.
OMAiENFQYLR.
OrthoDBiEOG769ZK0.
PhylomeDBiA6NCS4.
TreeFamiTF351204.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
InterProiIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR020479. Homeobox_metazoa.
IPR009057. Homeodomain-like.
[Graphical view]
PfamiPF00046. Homeobox. 1 hit.
[Graphical view]
PRINTSiPR00024. HOMEOBOX.
SMARTiSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti199 – 1991A → G in CN272646 (PubMed:15146197).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti151 – 1511F → L in CTHM. 1 Publication
VAR_063278

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.

Cross-referencesi

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.

3D structure databases

ProteinModelPortaliA6NCS4.
SMRiA6NCS4. Positions 132-186.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000402231.

PTM databases

PhosphoSiteiA6NCS4.

Proteomic databases

PaxDbiA6NCS4.
PRIDEiA6NCS4.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi137814.
GeneCardsiGC08M023559.
HGNCiHGNC:32940. NKX2-6.
MIMi217095. phenotype.
611770. gene.
neXtProtiNX_A6NCS4.
Orphaneti3426. Double outlet right ventricle.
334. Familial atrial fibrillation.
99097. Single ventricular septal defect.
3303. Tetralogy of Fallot.
3384. Truncus arteriosus.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG301183.
GeneTreeiENSGT00760000118779.
HOGENOMiHOG000231923.
HOVERGENiHBG006689.
InParanoidiA6NCS4.
KOiK09346.
OMAiENFQYLR.
OrthoDBiEOG769ZK0.
PhylomeDBiA6NCS4.
TreeFamiTF351204.

Miscellaneous databases

GenomeRNAii137814.
NextBioi83675.
PROiA6NCS4.
SOURCEiSearch...

Gene expression databases

CleanExiHS_NKX2-6.
GenevestigatoriA6NCS4.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
InterProiIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR020479. Homeobox_metazoa.
IPR009057. Homeodomain-like.
[Graphical view]
PfamiPF00046. Homeobox. 1 hit.
[Graphical view]
PRINTSiPR00024. HOMEOBOX.
SMARTiSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "DNA sequence and analysis of human chromosome 8."
    Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M., Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S., Asakawa T.
    , Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A., Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III, Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K., Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P., Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H., Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B., O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K., Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L., Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G., Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W., Platzer M., Shimizu N., Lander E.S.
    Nature 439:331-335(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  2. "Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation."
    Brandenberger R., Wei H., Zhang S., Lei S., Murage J., Fisk G.J., Li Y., Xu C., Fang R., Guegler K., Rao M.S., Mandalam R., Lebkowski J., Stanton L.W.
    Nat. Biotechnol. 22:707-716(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 64-214.
  3. Cited for: VARIANT CTHM LEU-151.

Entry informationi

Entry nameiNKX26_HUMAN
AccessioniPrimary (citable) accession number: A6NCS4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 11, 2007
Last sequence update: July 24, 2007
Last modified: March 4, 2015
This is version 65 of the entry and version 1 of the sequence. [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

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.