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A6NCS4

- NKX26_HUMAN

UniProt

A6NCS4 - NKX26_HUMAN

Protein

Homeobox protein Nkx-2.6

Gene

NKX2-6

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 61 (01 Oct 2014)
      Sequence version 1 (24 Jul 2007)
      Previous versions | rss
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    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

    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: Chromosome 8

    Organism-specific databases

    HGNCiHGNC:32940. NKX2-6.

    Subcellular locationi

    Nucleus Curated

    GO - Cellular componenti

    1. nucleus Source: HGNC

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    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.1 Publication
    Note: The disease may be caused by mutations affecting the gene represented in this entry.
    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.
    Orphaneti3384. 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.
    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

    MLLSPVTSTP FSVKDILRLE RERSCPAASP HPRVRKSPEN FQYLRMDAEP    50
    RGSEVHNAGG GGGDRKLDGS EPPGGPCEAV LEMDAERMGE PQPGLNAASP 100
    LGGGTRVPER GVGNSGDSVR GGRSEQPKAR QRRKPRVLFS QAQVLALERR 150
    FKQQRYLSAP EREHLASALQ LTSTQVKIWF QNRRYKCKRQ RQDKSLELAG 200
    HPLTPRRVAV PVLVRDGKPC LGPGPGAPAF PSPYSAAVSP YSCYGGYSGA 250
    PYGAGYGTCY AGAPSGPAPH TPLASAGFGH GGQNATPQGH LAATLQGVRA 300
    W 301
    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:
    EMBL
    GenBank
    DDBJ
    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:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AC012574 Genomic DNA. No translation available.
    CN272646 mRNA. No translation available.
    RefSeqi NP_001129743.2. NM_001136271.2.
    UniGenei Hs.532654.

    3D structure databases

    ProteinModelPortali A6NCS4.
    SMRi A6NCS4. Positions 132-186.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000402231.

    PTM databases

    PhosphoSitei A6NCS4.

    Proteomic databases

    PaxDbi A6NCS4.
    PRIDEi A6NCS4.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000325017 ; ENSP00000320089 ; ENSG00000180053 .
    GeneIDi 137814.
    KEGGi hsa:137814.
    UCSCi uc011kzy.3. human.

    Organism-specific databases

    CTDi 137814.
    GeneCardsi GC08M023559.
    HGNCi HGNC:32940. NKX2-6.
    MIMi 217095. phenotype.
    611770. gene.
    neXtProti NX_A6NCS4.
    Orphaneti 3384. Truncus arteriosus.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG301183.
    HOGENOMi HOG000231923.
    HOVERGENi HBG006689.
    InParanoidi A6NCS4.
    KOi K09346.
    OMAi ENFQYLR.
    OrthoDBi EOG769ZK0.
    PhylomeDBi A6NCS4.
    TreeFami TF351204.

    Miscellaneous databases

    GenomeRNAii 137814.
    NextBioi 83675.
    PROi A6NCS4.
    SOURCEi Search...

    Gene expression databases

    CleanExi HS_NKX2-6.
    Genevestigatori A6NCS4.

    Family and domain databases

    Gene3Di 1.10.10.60. 1 hit.
    InterProi IPR017970. Homeobox_CS.
    IPR001356. Homeobox_dom.
    IPR020479. Homeobox_metazoa.
    IPR009057. Homeodomain-like.
    [Graphical view ]
    Pfami PF00046. Homeobox. 1 hit.
    [Graphical view ]
    PRINTSi PR00024. HOMEOBOX.
    SMARTi SM00389. HOX. 1 hit.
    [Graphical view ]
    SUPFAMi SSF46689. SSF46689. 1 hit.
    PROSITEi PS00027. HOMEOBOX_1. 1 hit.
    PS50071. HOMEOBOX_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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(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. 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: October 1, 2014
    This is version 61 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