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Q9C056

- NKX62_HUMAN

UniProt

Q9C056 - NKX62_HUMAN

Protein

Homeobox protein Nkx-6.2

Gene

NKX6-2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 93 (01 Oct 2014)
      Sequence version 2 (11 Sep 2007)
      Previous versions | rss
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    Functioni

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi148 – 20760HomeoboxPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

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

    GO - Biological processi

    1. central nervous system myelination Source: Ensembl
    2. endocrine pancreas development Source: Ensembl
    3. negative regulation of cell fate commitment Source: Ensembl
    4. negative regulation of glial cell differentiation Source: Ensembl
    5. negative regulation of transcription from RNA polymerase II promoter Source: Ensembl
    6. neuromuscular process controlling balance Source: Ensembl
    7. positive regulation of cell fate commitment Source: Ensembl
    8. positive regulation of glial cell differentiation Source: Ensembl
    9. regulation of transcription, DNA-templated Source: UniProtKB
    10. regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification Source: Ensembl
    11. regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification Source: Ensembl

    Keywords - Molecular functioni

    Developmental protein

    Keywords - Ligandi

    DNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Homeobox protein Nkx-6.2
    Alternative name(s):
    Homeobox protein NK-6 homolog B
    Gene namesi
    Name:NKX6-2
    Synonyms:GTX, NKX6B
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 10

    Organism-specific databases

    HGNCiHGNC:19321. NKX6-2.

    Subcellular locationi

    Nucleus Curated

    GO - Cellular componenti

    1. nucleus Source: UniProtKB

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA134896334.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 277277Homeobox protein Nkx-6.2PRO_0000300635Add
    BLAST

    Proteomic databases

    PaxDbiQ9C056.
    PRIDEiQ9C056.

    PTM databases

    PhosphoSiteiQ9C056.

    Expressioni

    Tissue specificityi

    Highest expression in brain.1 Publication

    Gene expression databases

    BgeeiQ9C056.
    CleanExiHS_NKX6-2.
    GenevestigatoriQ9C056.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000357581.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9C056.
    SMRiQ9C056. Positions 155-205.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

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

    Keywords - Domaini

    Homeobox

    Phylogenomic databases

    eggNOGiNOG265304.
    HOGENOMiHOG000060127.
    HOVERGENiHBG070987.
    InParanoidiQ9C056.
    KOiK09350.
    OMAiGRAPIFW.
    OrthoDBiEOG7Z95QB.
    PhylomeDBiQ9C056.
    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.

    Q9C056-1 [UniParc]FASTAAdd to Basket

    « Hide

    MDTNRPGAFV LSSAPLAALH NMAEMKTSLF PYALQGPAGF KAPALGGLGA    50
    QLPLGTPHGI SDILGRPVGA AGGGLLGGLP RLNGLASSAG VYFGPAAAVA 100
    RGYPKPLAEL PGRPPIFWPG VVQGAPWRDP RLAGPAPAGG VLDKDGKKKH 150
    SRPTFSGQQI FALEKTFEQT KYLAGPERAR LAYSLGMTES QVKVWFQNRR 200
    TKWRKRHAVE MASAKKKQDS DAEKLKVGGS DAEDDDEYNR PLDPNSDDEK 250
    ITRLLKKHKP SNLALVSPCG GGAGDAL 277
    Length:277
    Mass (Da):29,263
    Last modified:September 11, 2007 - v2
    Checksum:i4B8EE650EC35D4A9
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti209 – 2091V → A.3 Publications
    Corresponds to variant rs2804003 [ dbSNP | Ensembl ].
    VAR_034878

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF184215 Genomic DNA. Translation: AAK13251.1.
    AL392043 Genomic DNA. Translation: CAI39943.1.
    CH471211 Genomic DNA. Translation: EAW61308.1.
    BC101635 mRNA. Translation: AAI01636.1.
    BC104823 mRNA. Translation: AAI04824.1.
    CCDSiCCDS7670.1.
    RefSeqiNP_796374.1. NM_177400.2.
    UniGeneiHs.134013.

    Genome annotation databases

    EnsembliENST00000368592; ENSP00000357581; ENSG00000148826.
    GeneIDi84504.
    KEGGihsa:84504.
    UCSCiuc001llr.2. human.

    Polymorphism databases

    DMDMi158564033.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF184215 Genomic DNA. Translation: AAK13251.1 .
    AL392043 Genomic DNA. Translation: CAI39943.1 .
    CH471211 Genomic DNA. Translation: EAW61308.1 .
    BC101635 mRNA. Translation: AAI01636.1 .
    BC104823 mRNA. Translation: AAI04824.1 .
    CCDSi CCDS7670.1.
    RefSeqi NP_796374.1. NM_177400.2.
    UniGenei Hs.134013.

    3D structure databases

    ProteinModelPortali Q9C056.
    SMRi Q9C056. Positions 155-205.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000357581.

    PTM databases

    PhosphoSitei Q9C056.

    Polymorphism databases

    DMDMi 158564033.

    Proteomic databases

    PaxDbi Q9C056.
    PRIDEi Q9C056.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000368592 ; ENSP00000357581 ; ENSG00000148826 .
    GeneIDi 84504.
    KEGGi hsa:84504.
    UCSCi uc001llr.2. human.

    Organism-specific databases

    CTDi 84504.
    GeneCardsi GC10M134598.
    HGNCi HGNC:19321. NKX6-2.
    MIMi 605955. gene.
    neXtProti NX_Q9C056.
    PharmGKBi PA134896334.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG265304.
    HOGENOMi HOG000060127.
    HOVERGENi HBG070987.
    InParanoidi Q9C056.
    KOi K09350.
    OMAi GRAPIFW.
    OrthoDBi EOG7Z95QB.
    PhylomeDBi Q9C056.
    TreeFami TF327063.

    Miscellaneous databases

    GeneWikii NKX6-2.
    GenomeRNAii 84504.
    NextBioi 74300.
    PROi Q9C056.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q9C056.
    CleanExi HS_NKX6-2.
    Genevestigatori Q9C056.

    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. "Cloning, expression and chromosomal location of NKX6B to 10q26, a region frequently deleted in brain tumors."
      Lee S.-H., Davison J.A., Vidal S.M., Belouchi A.
      Mamm. Genome 12:157-162(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT ALA-209, TISSUE SPECIFICITY.
    2. "The DNA sequence and comparative analysis of human chromosome 10."
      Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J.
      , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.
      Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT ALA-209.
    4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT ALA-209.
      Tissue: Brain cortex.

    Entry informationi

    Entry nameiNKX62_HUMAN
    AccessioniPrimary (citable) accession number: Q9C056
    Secondary accession number(s): Q5JSF3
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: September 11, 2007
    Last sequence update: September 11, 2007
    Last modified: October 1, 2014
    This is version 93 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 10
      Human chromosome 10: 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