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Q9UIU6

- SIX4_HUMAN

UniProt

Q9UIU6 - SIX4_HUMAN

Protein

Homeobox protein SIX4

Gene

SIX4

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 112 (01 Oct 2014)
      Sequence version 2 (28 Jul 2009)
      Previous versions | rss
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    Functioni

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi223 – 28260HomeoboxPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

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

    GO - Biological processi

    1. anatomical structure morphogenesis Source: ProtInc
    2. embryonic cranial skeleton morphogenesis Source: Ensembl
    3. generation of neurons Source: Ensembl
    4. inner ear morphogenesis Source: Ensembl
    5. metanephric mesenchyme development Source: Ensembl
    6. myoblast migration Source: Ensembl
    7. negative regulation of neuron apoptotic process Source: Ensembl
    8. positive regulation of branching involved in ureteric bud morphogenesis Source: Ensembl
    9. positive regulation of transcription from RNA polymerase II promoter Source: Ensembl
    10. positive regulation of ureteric bud formation Source: Ensembl
    11. regulation of branch elongation involved in ureteric bud branching Source: Ensembl
    12. regulation of protein localization Source: Ensembl
    13. regulation of synaptic growth at neuromuscular junction Source: Ensembl
    14. skeletal muscle tissue development Source: Ensembl
    15. thymus development Source: Ensembl

    Keywords - Molecular functioni

    Developmental protein

    Keywords - Ligandi

    DNA-binding

    Enzyme and pathway databases

    SignaLinkiQ9UIU6.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Homeobox protein SIX4
    Alternative name(s):
    Sine oculis homeobox homolog 4
    Gene namesi
    Name:SIX4
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 14

    Organism-specific databases

    HGNCiHGNC:10890. SIX4.

    Subcellular locationi

    Nucleus PROSITE-ProRule annotation

    GO - Cellular componenti

    1. nucleus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA35790.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Initiator methioninei1 – 11Removed1 Publication
    Chaini2 – 781780Homeobox protein SIX4PRO_0000049303Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei2 – 21N-acetylserine1 Publication
    Modified residuei640 – 6401Phosphoserine1 Publication

    Keywords - PTMi

    Acetylation, Phosphoprotein

    Proteomic databases

    MaxQBiQ9UIU6.
    PaxDbiQ9UIU6.
    PRIDEiQ9UIU6.

    PTM databases

    PhosphoSiteiQ9UIU6.

    Expressioni

    Gene expression databases

    ArrayExpressiQ9UIU6.
    BgeeiQ9UIU6.
    CleanExiHS_SIX4.
    GenevestigatoriQ9UIU6.

    Organism-specific databases

    HPAiHPA031794.

    Interactioni

    Protein-protein interaction databases

    BioGridi119730. 3 interactions.
    IntActiQ9UIU6. 1 interaction.
    MINTiMINT-7949397.
    STRINGi9606.ENSP00000216513.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9UIU6.
    SMRiQ9UIU6. Positions 106-279.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi36 – 10267Ala-richAdd
    BLAST

    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

    eggNOGiNOG244874.
    HOGENOMiHOG000261651.
    HOVERGENiHBG017802.
    InParanoidiQ9UIU6.
    KOiK15615.
    OMAiIKQENGM.
    OrthoDBiEOG7C5M8Z.
    PhylomeDBiQ9UIU6.
    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.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    Q9UIU6-1 [UniParc]FASTAAdd to Basket

    « Hide

    MSSSSPTGQI ASAADIKQEN GMESASEGQE AHREVAGGAA VGLSPPAPAP    50
    FPLEPGDAAT AAARVSGEEG AVAAAAAGAA ADQVQLHSEL LGRHHHAAAA 100
    AAQTPLAFSP DHVACVCEAL QQGGNLDRLA RFLWSLPQSD LLRGNESLLK 150
    ARALVAFHQG IYPELYSILE SHSFESANHP LLQQLWYKAR YTEAERARGR 200
    PLGAVDKYRL RRKFPLPRTI WDGEETVYCF KEKSRNALKE LYKQNRYPSP 250
    AEKRHLAKIT GLSLTQVSNW FKNRRQRDRN PSETQSKSES DGNPSTEDES 300
    SKGHEDLSPH PLSSSSDGIT NLSLSSHMEP VYMQQIGNAK ISLSSSGVLL 350
    NGSLVPASTS PVFLNGNSFI QGPSGVILNG LNVGNTQAVA LNPPKMSSNI 400
    VSNGISMTDI LGSTSQDVKE FKVLQSSANS ATTTSYSPSV PVSFPGLIPS 450
    TEVKREGIQT VASQDGGSVV TFTTPVQINQ YGIVQIPNSG ANSQFLNGSI 500
    GFSPLQLPPV SVAASQGNIS VSSSTSDGST FTSESTTVQQ GKVFLSSLAP 550
    SAVVYTVPNT GQTIGSVKQE GLERSLVFSQ LMPVNQNAQV NANLSSENIS 600
    GSGLHPLASS LVNVSPTHNF SLSPSTLLNP TELNRDIADS QPMSAPVASK 650
    STVTSVSNTN YATLQNCSLI TGQDLLSVPM TQAALGEIVP TAEDQVGHPS 700
    PAVHQDFVQE HRLVLQSVAN MKENFLSNSE SKATSSLMML DSKSKYVLDG 750
    MVDTVCEDLE TDKKELAKLQ TVQLDEDMQD L 781
    Length:781
    Mass (Da):82,933
    Last modified:July 28, 2009 - v2
    Checksum:i0054080AFF7BFF7E
    GO

    Sequence cautioni

    The sequence BAA86223.1 differs from that shown. Reason: Erroneous initiation.
    The sequence EAW80786.1 differs from that shown. Reason: Erroneous initiation.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti23 – 231E → Q in a breast cancer sample; somatic mutation. 1 Publication
    VAR_036441
    Natural varianti446 – 4461G → D in a breast cancer sample; somatic mutation. 1 Publication
    VAR_036442
    Natural varianti605 – 6051H → P.2 Publications
    Corresponds to variant rs3742636 [ dbSNP | Ensembl ].
    VAR_058281
    Natural varianti780 – 7801D → E in a breast cancer sample; somatic mutation. 1 Publication
    VAR_036443

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB024687 Genomic DNA. Translation: BAA86223.1. Different initiation.
    AL132777 Genomic DNA. No translation available.
    CH471061 Genomic DNA. Translation: EAW80786.1. Different initiation.
    BC098135 mRNA. Translation: AAH98135.1.
    BC098282 mRNA. Translation: AAH98282.1.
    BC099722 mRNA. Translation: AAH99722.1.
    BC101934 mRNA. Translation: AAI01935.1.
    CCDSiCCDS9749.2.
    RefSeqiNP_059116.3. NM_017420.4.
    UniGeneiHs.690393.
    Hs.97849.

    Genome annotation databases

    EnsembliENST00000216513; ENSP00000216513; ENSG00000100625.
    GeneIDi51804.
    KEGGihsa:51804.
    UCSCiuc001xfc.3. human.

    Polymorphism databases

    DMDMi254763333.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB024687 Genomic DNA. Translation: BAA86223.1 . Different initiation.
    AL132777 Genomic DNA. No translation available.
    CH471061 Genomic DNA. Translation: EAW80786.1 . Different initiation.
    BC098135 mRNA. Translation: AAH98135.1 .
    BC098282 mRNA. Translation: AAH98282.1 .
    BC099722 mRNA. Translation: AAH99722.1 .
    BC101934 mRNA. Translation: AAI01935.1 .
    CCDSi CCDS9749.2.
    RefSeqi NP_059116.3. NM_017420.4.
    UniGenei Hs.690393.
    Hs.97849.

    3D structure databases

    ProteinModelPortali Q9UIU6.
    SMRi Q9UIU6. Positions 106-279.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 119730. 3 interactions.
    IntActi Q9UIU6. 1 interaction.
    MINTi MINT-7949397.
    STRINGi 9606.ENSP00000216513.

    PTM databases

    PhosphoSitei Q9UIU6.

    Polymorphism databases

    DMDMi 254763333.

    Proteomic databases

    MaxQBi Q9UIU6.
    PaxDbi Q9UIU6.
    PRIDEi Q9UIU6.

    Protocols and materials databases

    DNASUi 51804.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000216513 ; ENSP00000216513 ; ENSG00000100625 .
    GeneIDi 51804.
    KEGGi hsa:51804.
    UCSCi uc001xfc.3. human.

    Organism-specific databases

    CTDi 51804.
    GeneCardsi GC14M061176.
    H-InvDB HIX0037650.
    HGNCi HGNC:10890. SIX4.
    HPAi HPA031794.
    MIMi 606342. gene.
    neXtProti NX_Q9UIU6.
    PharmGKBi PA35790.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG244874.
    HOGENOMi HOG000261651.
    HOVERGENi HBG017802.
    InParanoidi Q9UIU6.
    KOi K15615.
    OMAi IKQENGM.
    OrthoDBi EOG7C5M8Z.
    PhylomeDBi Q9UIU6.
    TreeFami TF315545.

    Enzyme and pathway databases

    SignaLinki Q9UIU6.

    Miscellaneous databases

    GeneWikii SIX4.
    GenomeRNAii 51804.
    NextBioi 55920.
    PROi Q9UIU6.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9UIU6.
    Bgeei Q9UIU6.
    CleanExi HS_SIX4.
    Genevestigatori Q9UIU6.

    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 and chromosome mapping of the human SIX4 and murine Six4 genes."
      Ozaki H., Yamada K., Kobayashi M., Asakawa S., Minoshima S., Shimizu N., Kajitani M., Kawakami K.
      Cytogenet. Cell Genet. 87:108-112(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT PRO-605.
    2. "The DNA sequence and analysis of human chromosome 14."
      Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C., Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A., Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H., Du H.
      , Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T., Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B., Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D., Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R., Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S., Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C., Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S., Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C., Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P., Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M., Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V., Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J., Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F., Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F., Waterston R., Hood L., Weissenbach J.
      Nature 421:601-607(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    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] OF 22-781, VARIANT PRO-605.
    5. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-640, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Embryonic kidney.
    6. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
      Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
      Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT SER-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS], CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS].
    7. Cited for: VARIANTS [LARGE SCALE ANALYSIS] GLN-23; ASP-446 AND GLU-780.

    Entry informationi

    Entry nameiSIX4_HUMAN
    AccessioniPrimary (citable) accession number: Q9UIU6
    Secondary accession number(s): Q4QQH5, Q4V764
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 11, 2001
    Last sequence update: July 28, 2009
    Last modified: October 1, 2014
    This is version 112 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 14
      Human chromosome 14: 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