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Q9NPC8

- SIX2_HUMAN

UniProt

Q9NPC8 - SIX2_HUMAN

Protein

Homeobox protein SIX2

Gene

SIX2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 110 (01 Oct 2014)
      Sequence version 1 (01 Oct 2000)
      Previous versions | rss
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    Functioni

    May be involved in limb tendon and ligament development.By similarity

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi124 – 18360HomeoboxPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. sequence-specific DNA binding Source: Ensembl
    2. sequence-specific DNA binding transcription factor activity Source: ProtInc

    GO - Biological processi

    1. anatomical structure morphogenesis Source: ProtInc
    2. cell proliferation Source: Ensembl
    3. chondrocyte differentiation Source: Ensembl
    4. embryonic cranial skeleton morphogenesis Source: Ensembl
    5. kidney development Source: UniProtKB
    6. mesenchymal to epithelial transition involved in metanephros morphogenesis Source: Ensembl
    7. mesodermal cell fate specification Source: Ensembl
    8. middle ear morphogenesis Source: Ensembl
    9. negative regulation of cell differentiation Source: Ensembl
    10. positive regulation of transcription from RNA polymerase II promoter Source: Ensembl
    11. protein import into nucleus Source: Ensembl

    Keywords - Molecular functioni

    Developmental protein

    Keywords - Ligandi

    DNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Homeobox protein SIX2
    Alternative name(s):
    Sine oculis homeobox homolog 2
    Gene namesi
    Name:SIX2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 2

    Organism-specific databases

    HGNCiHGNC:10888. SIX2.

    Subcellular locationi

    GO - Cellular componenti

    1. nucleus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA35788.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 291291Homeobox protein SIX2PRO_0000049297Add
    BLAST

    Proteomic databases

    MaxQBiQ9NPC8.
    PaxDbiQ9NPC8.
    PRIDEiQ9NPC8.

    Expressioni

    Tissue specificityi

    Strongly expressed in skeletal muscle. Expressed in Wilms' tumor and in the cap mesenchyme of fetal kidney (at protein level).1 Publication

    Gene expression databases

    BgeeiQ9NPC8.
    CleanExiHS_SIX2.
    GenevestigatoriQ9NPC8.

    Organism-specific databases

    HPAiHPA052782.

    Interactioni

    Protein-protein interaction databases

    BioGridi115959. 1 interaction.
    STRINGi9606.ENSP00000304502.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9NPC8.
    SMRiQ9NPC8. Positions 1-185.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the SIX/Sine oculis homeobox family.Curated
    Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Homeobox

    Phylogenomic databases

    eggNOGiNOG289502.
    HOGENOMiHOG000261680.
    HOVERGENiHBG003609.
    InParanoidiQ9NPC8.
    OMAiANSNSHN.
    OrthoDBiEOG7C5M8Z.
    PhylomeDBiQ9NPC8.
    TreeFamiTF315545.

    Family and domain databases

    Gene3Di1.10.10.60. 1 hit.
    InterProiIPR017970. Homeobox_CS.
    IPR001356. Homeobox_dom.
    IPR009057. Homeodomain-like.
    [Graphical view]
    PfamiPF00046. Homeobox. 1 hit.
    [Graphical view]
    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.

    Q9NPC8-1 [UniParc]FASTAAdd to Basket

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    MSMLPTFGFT QEQVACVCEV LQQGGNIERL GRFLWSLPAC EHLHKNESVL    50
    KAKAVVAFHR GNFRELYKIL ESHQFSPHNH AKLQQLWLKA HYIEAEKLRG 100
    RPLGAVGKYR VRRKFPLPRS IWDGEETSYC FKEKSRSVLR EWYAHNPYPS 150
    PREKRELAEA TGLTTTQVSN WFKNRRQRDR AAEAKERENN ENSNSNSHNP 200
    LNGSGKSVLG SSEDEKTPSG TPDHSSSSPA LLLSPPPPGL PSLHSLGHPP 250
    GPSAVPVPVP GGGGADPLQH HHGLQDSILN PMSANLVDLG S 291
    Length:291
    Mass (Da):32,286
    Last modified:October 1, 2000 - v1
    Checksum:i8388C3C331575BDD
    GO

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF136939 Genomic DNA. Translation: AAF69031.1.
    AF136940 mRNA. Translation: AAF69032.1.
    AF332196 mRNA. Translation: AAK16581.1.
    AF332197 mRNA. Translation: AAK16582.1.
    AF332198 Genomic DNA. Translation: AAK16583.1.
    AF323498 Genomic DNA. Translation: AAK06773.1.
    BT020100 mRNA. Translation: AAV38903.1.
    CCDSiCCDS1822.1.
    RefSeqiNP_058628.3. NM_016932.4.
    UniGeneiHs.101937.

    Genome annotation databases

    EnsembliENST00000303077; ENSP00000304502; ENSG00000170577.
    GeneIDi10736.
    KEGGihsa:10736.
    UCSCiuc002ruo.3. human.

    Polymorphism databases

    DMDMi12230598.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF136939 Genomic DNA. Translation: AAF69031.1 .
    AF136940 mRNA. Translation: AAF69032.1 .
    AF332196 mRNA. Translation: AAK16581.1 .
    AF332197 mRNA. Translation: AAK16582.1 .
    AF332198 Genomic DNA. Translation: AAK16583.1 .
    AF323498 Genomic DNA. Translation: AAK06773.1 .
    BT020100 mRNA. Translation: AAV38903.1 .
    CCDSi CCDS1822.1.
    RefSeqi NP_058628.3. NM_016932.4.
    UniGenei Hs.101937.

    3D structure databases

    ProteinModelPortali Q9NPC8.
    SMRi Q9NPC8. Positions 1-185.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 115959. 1 interaction.
    STRINGi 9606.ENSP00000304502.

    Polymorphism databases

    DMDMi 12230598.

    Proteomic databases

    MaxQBi Q9NPC8.
    PaxDbi Q9NPC8.
    PRIDEi Q9NPC8.

    Protocols and materials databases

    DNASUi 10736.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000303077 ; ENSP00000304502 ; ENSG00000170577 .
    GeneIDi 10736.
    KEGGi hsa:10736.
    UCSCi uc002ruo.3. human.

    Organism-specific databases

    CTDi 10736.
    GeneCardsi GC02M045232.
    HGNCi HGNC:10888. SIX2.
    HPAi HPA052782.
    MIMi 604994. gene.
    neXtProti NX_Q9NPC8.
    PharmGKBi PA35788.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG289502.
    HOGENOMi HOG000261680.
    HOVERGENi HBG003609.
    InParanoidi Q9NPC8.
    OMAi ANSNSHN.
    OrthoDBi EOG7C5M8Z.
    PhylomeDBi Q9NPC8.
    TreeFami TF315545.

    Miscellaneous databases

    GeneWikii SIX2.
    GenomeRNAii 10736.
    NextBioi 40762.
    PROi Q9NPC8.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q9NPC8.
    CleanExi HS_SIX2.
    Genevestigatori Q9NPC8.

    Family and domain databases

    Gene3Di 1.10.10.60. 1 hit.
    InterProi IPR017970. Homeobox_CS.
    IPR001356. Homeobox_dom.
    IPR009057. Homeodomain-like.
    [Graphical view ]
    Pfami PF00046. Homeobox. 1 hit.
    [Graphical view ]
    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. "Structure, mapping and expression of the human gene encoding the homeodomain protein, SIX2."
      Boucher C.A., Winchester C.L., Hamilton G.M., Winter A.D., Johnson K.J., Bailey M.E.S.
      Gene 247:145-151(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA].
    2. "Molecular characterization of the human SIX2 gene: alternative polyadenylation and localization within the HPE2 critical region 2p21."
      Hedrich K., Hehr A.J., Hansmann I., Hehr U.
      Submitted (DEC-2000) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA].
      Tissue: Salivary gland.
    3. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    4. "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
      Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
      Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    5. "SIX2 and CITED1, markers of nephronic progenitor self-renewal, remain active in primitive elements of Wilms' tumor."
      Murphy A.J., Pierce J., de Caestecker C., Taylor C., Anderson J.R., Perantoni A.O., de Caestecker M.P., Lovvorn H.N. III
      J. Pediatr. Surg. 47:1239-1249(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: TISSUE SPECIFICITY.

    Entry informationi

    Entry nameiSIX2_HUMAN
    AccessioniPrimary (citable) accession number: Q9NPC8
    Secondary accession number(s): Q9BXH7
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 11, 2001
    Last sequence update: October 1, 2000
    Last modified: October 1, 2014
    This is version 110 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 2
      Human chromosome 2: 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