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P78426

- NKX61_HUMAN

UniProt

P78426 - NKX61_HUMAN

Protein

Homeobox protein Nkx-6.1

Gene

NKX6-1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 121 (01 Oct 2014)
      Sequence version 2 (09 Feb 2010)
      Previous versions | rss
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    Functioni

    Transcription factor which binds to specific A/T-rich DNA sequences in the promoter regions of a number of genes. Involved in transcriptional regulation in islet beta cells. Binds to the insulin promoter and is involved in regulation of the insulin gene. Together with NKX2-2 and IRX3 acts to restrict the generation of motor neurons to the appropriate region of the neural tube. Belongs to the class II proteins of neuronal progenitor factors, which are induced by SHH signals By similarity.By similarity

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi236 – 29560HomeoboxPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. chromatin binding Source: Ensembl
    2. sequence-specific DNA binding transcription factor activity Source: Ensembl
    3. transcription regulatory region sequence-specific DNA binding Source: InterPro

    GO - Biological processi

    1. cell proliferation Source: Ensembl
    2. cellular response to cytokine stimulus Source: Ensembl
    3. cellular response to peptide hormone stimulus Source: Ensembl
    4. detection of glucose Source: BHF-UCL
    5. endocrine pancreas development Source: Reactome
    6. negative regulation of glial cell differentiation Source: Ensembl
    7. negative regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
    8. oligodendrocyte differentiation Source: Ensembl
    9. organ morphogenesis Source: ProtInc
    10. pancreas development Source: BHF-UCL
    11. positive regulation of glial cell differentiation Source: Ensembl
    12. positive regulation of insulin secretion Source: Ensembl
    13. positive regulation of neuron differentiation Source: Ensembl
    14. positive regulation of sequence-specific DNA binding transcription factor activity Source: BHF-UCL
    15. positive regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
    16. positive regulation of type B pancreatic cell development Source: BHF-UCL
    17. regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification Source: Ensembl
    18. regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification Source: Ensembl
    19. response to drug Source: Ensembl
    20. response to nicotine Source: Ensembl
    21. smoothened signaling pathway Source: Ensembl
    22. transcription from RNA polymerase II promoter Source: Ensembl
    23. type B pancreatic cell maturation Source: BHF-UCL

    Keywords - Molecular functioni

    Activator, Developmental protein, Repressor

    Keywords - Biological processi

    Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Enzyme and pathway databases

    ReactomeiREACT_13778. Regulation of gene expression in early pancreatic precursor cells.
    REACT_13819. Regulation of gene expression in beta cells.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Homeobox protein Nkx-6.1
    Alternative name(s):
    Homeobox protein NK-6 homolog A
    Gene namesi
    Name:NKX6-1
    Synonyms:NKX6A
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 4

    Organism-specific databases

    HGNCiHGNC:7839. NKX6-1.

    Subcellular locationi

    Nucleus Curated

    GO - Cellular componenti

    1. extracellular vesicular exosome Source: UniProt
    2. nucleus Source: HPA

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA31646.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 367367Homeobox protein Nkx-6.1PRO_0000048951Add
    BLAST

    Proteomic databases

    PaxDbiP78426.
    PRIDEiP78426.

    PTM databases

    PhosphoSiteiP78426.

    Expressioni

    Tissue specificityi

    Pancreatic beta cells.

    Gene expression databases

    ArrayExpressiP78426.
    BgeeiP78426.
    CleanExiHS_NKX6-1.
    GenevestigatoriP78426.

    Organism-specific databases

    HPAiHPA036774.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000295886.

    Structurei

    3D structure databases

    ProteinModelPortaliP78426.
    SMRiP78426. Positions 243-293.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni102 – 268167Repressor domainBy similarityAdd
    BLAST
    Regioni306 – 36762Involved in DNA-bindingBy similarityAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi49 – 6113Poly-SerAdd
    BLAST
    Compositional biasi119 – 13517Poly-SerAdd
    BLAST
    Compositional biasi136 – 15015Poly-AlaAdd
    BLAST
    Compositional biasi168 – 1736Poly-Pro
    Compositional biasi351 – 3555Poly-Gly

    Domaini

    The C-terminal domain contributes to sequence-specific DNA-binding.By similarity

    Sequence similaritiesi

    Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Homeobox

    Phylogenomic databases

    eggNOGiNOG265304.
    HOGENOMiHOG000060127.
    HOVERGENiHBG070987.
    InParanoidiP78426.
    KOiK08030.
    OMAiTPLYPAY.
    OrthoDBiEOG7Z95QB.
    PhylomeDBiP78426.
    TreeFamiTF327063.

    Family and domain databases

    Gene3Di1.10.10.60. 1 hit.
    InterProiIPR017970. Homeobox_CS.
    IPR001356. Homeobox_dom.
    IPR020479. Homeobox_metazoa.
    IPR009057. Homeodomain-like.
    IPR000047. HTH_motif.
    [Graphical view]
    PfamiPF00046. Homeobox. 1 hit.
    [Graphical view]
    PRINTSiPR00024. HOMEOBOX.
    PR00031. HTHREPRESSR.
    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.

    P78426-1 [UniParc]FASTAAdd to Basket

    « Hide

    MLAVGAMEGT RQSAFLLSSP PLAALHSMAE MKTPLYPAAY PPLPAGPPSS    50
    SSSSSSSSSP SPPLGTHNPG GLKPPATGGL SSLGSPPQQL SAATPHGIND 100
    ILSRPSMPVA SGAALPSASP SGSSSSSSSS ASASSASAAA AAAAAAAAAA 150
    SSPAGLLAGL PRFSSLSPPP PPPGLYFSPS AAAVAAVGRY PKPLAELPGR 200
    TPIFWPGVMQ SPPWRDARLA CTPHQGSILL DKDGKRKHTR PTFSGQQIFA 250
    LEKTFEQTKY LAGPERARLA YSLGMTESQV KVWFQNRRTK WRKKHAAEMA 300
    TAKKKQDSET ERLKGASENE EEDDDYNKPL DPNSDDEKIT QLLKKHKSSS 350
    GGGGGLLLHA SEPESSS 367
    Length:367
    Mass (Da):37,849
    Last modified:February 9, 2010 - v2
    Checksum:i5C78F06C3CAE6486
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti100 – 1001D → N in AAD11962. (PubMed:9119408)Curated

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U66799, U66797, U66798 Genomic DNA. Translation: AAD11962.1.
    AC096766 Genomic DNA. No translation available.
    CCDSiCCDS3607.1.
    RefSeqiNP_006159.2. NM_006168.2.
    XP_006714293.1. XM_006714230.1.
    UniGeneiHs.546270.

    Genome annotation databases

    EnsembliENST00000295886; ENSP00000295886; ENSG00000163623.
    GeneIDi4825.
    KEGGihsa:4825.
    UCSCiuc003hpa.1. human.

    Polymorphism databases

    DMDMi288558819.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U66799 , U66797 , U66798 Genomic DNA. Translation: AAD11962.1 .
    AC096766 Genomic DNA. No translation available.
    CCDSi CCDS3607.1.
    RefSeqi NP_006159.2. NM_006168.2.
    XP_006714293.1. XM_006714230.1.
    UniGenei Hs.546270.

    3D structure databases

    ProteinModelPortali P78426.
    SMRi P78426. Positions 243-293.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000295886.

    PTM databases

    PhosphoSitei P78426.

    Polymorphism databases

    DMDMi 288558819.

    Proteomic databases

    PaxDbi P78426.
    PRIDEi P78426.

    Protocols and materials databases

    DNASUi 4825.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000295886 ; ENSP00000295886 ; ENSG00000163623 .
    GeneIDi 4825.
    KEGGi hsa:4825.
    UCSCi uc003hpa.1. human.

    Organism-specific databases

    CTDi 4825.
    GeneCardsi GC04M085413.
    HGNCi HGNC:7839. NKX6-1.
    HPAi HPA036774.
    MIMi 602563. gene.
    neXtProti NX_P78426.
    PharmGKBi PA31646.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG265304.
    HOGENOMi HOG000060127.
    HOVERGENi HBG070987.
    InParanoidi P78426.
    KOi K08030.
    OMAi TPLYPAY.
    OrthoDBi EOG7Z95QB.
    PhylomeDBi P78426.
    TreeFami TF327063.

    Enzyme and pathway databases

    Reactomei REACT_13778. Regulation of gene expression in early pancreatic precursor cells.
    REACT_13819. Regulation of gene expression in beta cells.

    Miscellaneous databases

    GeneWikii NKX6-1.
    GenomeRNAii 4825.
    NextBioi 18584.
    PROi P78426.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P78426.
    Bgeei P78426.
    CleanExi HS_NKX6-1.
    Genevestigatori P78426.

    Family and domain databases

    Gene3Di 1.10.10.60. 1 hit.
    InterProi IPR017970. Homeobox_CS.
    IPR001356. Homeobox_dom.
    IPR020479. Homeobox_metazoa.
    IPR009057. Homeodomain-like.
    IPR000047. HTH_motif.
    [Graphical view ]
    Pfami PF00046. Homeobox. 1 hit.
    [Graphical view ]
    PRINTSi PR00024. HOMEOBOX.
    PR00031. HTHREPRESSR.
    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. "Isolation, characterization, and chromosomal mapping of the human Nkx6.1 gene (NKX6A), a new pancreatic islet homeobox gene."
      Inoue H., Rudnick A., German M.S., Veile R., Donis-Keller H., Permutt M.A.
      Genomics 40:367-370(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
      Tissue: Pancreatic islet.
    2. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
      Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
      , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
      Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].

    Entry informationi

    Entry nameiNKX61_HUMAN
    AccessioniPrimary (citable) accession number: P78426
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 15, 1999
    Last sequence update: February 9, 2010
    Last modified: October 1, 2014
    This is version 121 of the entry and version 2 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 4
      Human chromosome 4: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3