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A6NCS4 (NKX26_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 60. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Homeobox protein Nkx-2.6
Alternative name(s):
Homeobox protein NK-2 homolog F
Gene names
Name:NKX2-6
Synonyms:NKX2F
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length301 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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

Subcellular location

Nucleus Probable.

Involvement in disease

Conotruncal heart malformations (CTHM) [MIM:217095]: A 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.
Note: The disease may be caused by mutations affecting the gene represented in this entry. Ref.3

Sequence similarities

Belongs to the NK-2 homeobox family.

Contains 1 homeobox DNA-binding domain.

Ontologies

Keywords
   Cellular componentNucleus
   DiseaseDisease mutation
   DomainHomeobox
   LigandDNA-binding
   Molecular functionDevelopmental protein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processatrial cardiac muscle cell development

Inferred from sequence or structural similarity. Source: BHF-UCL

cell differentiation

Inferred from sequence or structural similarity. Source: BHF-UCL

digestive tract development

Inferred from sequence or structural similarity. Source: BHF-UCL

embryonic heart tube development

Inferred from mutant phenotype Ref.3. Source: HGNC

hypothalamus development

Inferred from sequence or structural similarity. Source: BHF-UCL

negative regulation of apoptotic process

Inferred from sequence or structural similarity. Source: BHF-UCL

pericardium development

Inferred from sequence or structural similarity. Source: BHF-UCL

pharyngeal system development

Inferred from sequence or structural similarity. Source: BHF-UCL

positive regulation of cell proliferation

Inferred from sequence or structural similarity. Source: BHF-UCL

tongue development

Inferred from sequence or structural similarity. Source: BHF-UCL

transcription, DNA-templated

Inferred from direct assay Ref.3. Source: HGNC

ventricular cardiac muscle cell development

Inferred from sequence or structural similarity. Source: BHF-UCL

   Cellular_componentnucleus

Inferred by curator Ref.3. Source: HGNC

   Molecular_functionsequence-specific DNA binding

Inferred from electronic annotation. Source: InterPro

sequence-specific DNA binding transcription factor activity

Inferred from direct assay Ref.3. Source: HGNC

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 301301Homeobox protein Nkx-2.6
PRO_0000300262

Regions

DNA binding132 – 19160Homeobox
Compositional bias59 – 635Poly-Gly

Natural variations

Natural variant1511F → L in CTHM. Ref.3
VAR_063278

Experimental info

Sequence conflict1991A → G in CN272646. Ref.2

Sequences

Sequence LengthMass (Da)Tools
A6NCS4 [UniParc].

Last modified July 24, 2007. Version 1.
Checksum: BA3FECFC7F1804EA

FASTA30132,121
        10         20         30         40         50         60 
MLLSPVTSTP FSVKDILRLE RERSCPAASP HPRVRKSPEN FQYLRMDAEP RGSEVHNAGG 

        70         80         90        100        110        120 
GGGDRKLDGS EPPGGPCEAV LEMDAERMGE PQPGLNAASP LGGGTRVPER GVGNSGDSVR 

       130        140        150        160        170        180 
GGRSEQPKAR QRRKPRVLFS QAQVLALERR FKQQRYLSAP EREHLASALQ LTSTQVKIWF 

       190        200        210        220        230        240 
QNRRYKCKRQ RQDKSLELAG HPLTPRRVAV PVLVRDGKPC LGPGPGAPAF PSPYSAAVSP 

       250        260        270        280        290        300 
YSCYGGYSGA PYGAGYGTCY AGAPSGPAPH TPLASAGFGH GGQNATPQGH LAATLQGVRA 


W 

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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(2006) [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(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 64-214.
[3]"Common arterial trunk associated with a homeodomain mutation of NKX2.6."
Heathcote K., Braybrook C., Abushaban L., Guy M., Khetyar M.E., Patton M.A., Carter N.D., Scambler P.J., Syrris P.
Hum. Mol. Genet. 14:585-593(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CTHM LEU-151.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AC012574 Genomic DNA. No translation available.
CN272646 mRNA. No translation available.
RefSeqNP_001129743.2. NM_001136271.2.
UniGeneHs.532654.

3D structure databases

ProteinModelPortalA6NCS4.
SMRA6NCS4. Positions 132-186.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000402231.

PTM databases

PhosphoSiteA6NCS4.

Proteomic databases

PaxDbA6NCS4.
PRIDEA6NCS4.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000325017; ENSP00000320089; ENSG00000180053.
GeneID137814.
KEGGhsa:137814.
UCSCuc011kzy.3. human.

Organism-specific databases

CTD137814.
GeneCardsGC08M023559.
HGNCHGNC:32940. NKX2-6.
MIM217095. phenotype.
611770. gene.
neXtProtNX_A6NCS4.
Orphanet3384. Truncus arteriosus.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG301183.
HOGENOMHOG000231923.
HOVERGENHBG006689.
InParanoidA6NCS4.
KOK09346.
OMAENFQYLR.
OrthoDBEOG769ZK0.
PhylomeDBA6NCS4.
TreeFamTF351204.

Gene expression databases

CleanExHS_NKX2-6.
GenevestigatorA6NCS4.

Family and domain databases

Gene3D1.10.10.60. 1 hit.
InterProIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR020479. Homeobox_metazoa.
IPR009057. Homeodomain-like.
[Graphical view]
PfamPF00046. Homeobox. 1 hit.
[Graphical view]
PRINTSPR00024. HOMEOBOX.
SMARTSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMSSF46689. SSF46689. 1 hit.
PROSITEPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi137814.
NextBio83675.
PROA6NCS4.
SOURCESearch...

Entry information

Entry nameNKX26_HUMAN
AccessionPrimary (citable) accession number: A6NCS4
Entry history
Integrated into UniProtKB/Swiss-Prot: September 11, 2007
Last sequence update: July 24, 2007
Last modified: April 16, 2014
This is version 60 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 8

Human chromosome 8: entries, gene names and cross-references to MIM