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P31277

- HXD11_HUMAN

UniProt

P31277 - HXD11_HUMAN

Protein

Homeobox protein Hox-D11

Gene

HOXD11

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 131 (01 Oct 2014)
      Sequence version 3 (10 Feb 2009)
      Previous versions | rss
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    Functioni

    Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi266 – 32560HomeoboxPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

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

    GO - Biological processi

    1. anterior/posterior pattern specification Source: Ensembl
    2. branching involved in ureteric bud morphogenesis Source: UniProtKB
    3. cartilage development involved in endochondral bone morphogenesis Source: Ensembl
    4. developmental growth Source: Ensembl
    5. dorsal/ventral pattern formation Source: UniProtKB
    6. embryonic digit morphogenesis Source: Ensembl
    7. embryonic forelimb morphogenesis Source: Ensembl
    8. embryonic skeletal joint morphogenesis Source: Ensembl
    9. metanephros development Source: Ensembl
    10. organ induction Source: Ensembl
    11. positive regulation of cell development Source: Ensembl
    12. positive regulation of chondrocyte differentiation Source: Ensembl
    13. proximal/distal pattern formation Source: Ensembl
    14. transcription, DNA-templated Source: UniProtKB-KW

    Keywords - Molecular functioni

    Developmental protein

    Keywords - Biological processi

    Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Homeobox protein Hox-D11
    Alternative name(s):
    Homeobox protein Hox-4F
    Gene namesi
    Name:HOXD11
    Synonyms:HOX4F
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 2

    Organism-specific databases

    HGNCiHGNC:5134. HOXD11.

    Subcellular locationi

    GO - Cellular componenti

    1. nucleus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA29408.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 338338Homeobox protein Hox-D11PRO_0000200231Add
    BLAST

    Proteomic databases

    PaxDbiP31277.
    PRIDEiP31277.

    Expressioni

    Gene expression databases

    BgeeiP31277.
    CleanExiHS_HOXD11.
    GenevestigatoriP31277.

    Interactioni

    Protein-protein interaction databases

    BioGridi109477. 1 interaction.
    STRINGi9606.ENSP00000249504.

    Structurei

    3D structure databases

    ProteinModelPortaliP31277.
    SMRiP31277. Positions 266-325.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi90 – 10213Poly-GlyAdd
    BLAST
    Compositional biasi108 – 12013Poly-AlaAdd
    BLAST

    Sequence similaritiesi

    Belongs to the Abd-B homeobox family.Curated
    Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Homeobox

    Phylogenomic databases

    eggNOGiNOG305087.
    HOGENOMiHOG000231898.
    HOVERGENiHBG052048.
    KOiK09296.
    OMAiFYETAPG.
    OrthoDBiEOG7ZWD2F.
    PhylomeDBiP31277.
    TreeFamiTF350668.

    Family and domain databases

    Gene3Di1.10.10.60. 1 hit.
    InterProiIPR021918. DUF3528.
    IPR017970. Homeobox_CS.
    IPR001356. Homeobox_dom.
    IPR020479. Homeobox_metazoa.
    IPR009057. Homeodomain-like.
    [Graphical view]
    PfamiPF12045. DUF3528. 1 hit.
    PF00046. 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.

    P31277-1 [UniParc]FASTAAdd to Basket

    « Hide

    MNDFDECGQS AASMYLPGCA YYVAPSDFAS KPSFLSQPSS CQMTFPYSSN    50
    LAPHVQPVRE VAFRDYGLER AKWPYRGGGG GGSAGGGSSG GGPGGGGGGA 100
    GGYAPYYAAA AAAAAAAAAA EEAAMQRELL PPAGRRPDVL FKAPEPVCAA 150
    PGPPHGPAGA ASNFYSAVGR NGILPQGFDQ FYEAAPGPPF AGPQPPPPPA 200
    PPQPEGAADK GDPRTGAGGG GGSPCTKATP GSEPKGAAEG SGGDGEGPPG 250
    EAGAEKSSSA VAPQRSRKKR CPYTKYQIRE LEREFFFNVY INKEKRLQLS 300
    RMLNLTDRQV KIWFQNRRMK EKKLNRDRLQ YFTGNPLF 338
    Length:338
    Mass (Da):35,197
    Last modified:February 10, 2009 - v3
    Checksum:i2960C3C983EA9A6A
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti196 – 20510PPPPAPPQPE → RRHPRRHSPM in AAF79045. 1 PublicationCurated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti245 – 2451G → D.1 Publication
    VAR_031647

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF154915 Genomic DNA. Translation: AAF79045.1.
    AC009336 Genomic DNA. No translation available.
    CCDSiCCDS2265.1.
    PIRiS14938.
    RefSeqiNP_067015.2. NM_021192.2.
    UniGeneiHs.421136.

    Genome annotation databases

    EnsembliENST00000249504; ENSP00000249504; ENSG00000128713.
    GeneIDi3237.
    KEGGihsa:3237.
    UCSCiuc002uki.3. human.

    Polymorphism databases

    DMDMi223590220.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF154915 Genomic DNA. Translation: AAF79045.1 .
    AC009336 Genomic DNA. No translation available.
    CCDSi CCDS2265.1.
    PIRi S14938.
    RefSeqi NP_067015.2. NM_021192.2.
    UniGenei Hs.421136.

    3D structure databases

    ProteinModelPortali P31277.
    SMRi P31277. Positions 266-325.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 109477. 1 interaction.
    STRINGi 9606.ENSP00000249504.

    Polymorphism databases

    DMDMi 223590220.

    Proteomic databases

    PaxDbi P31277.
    PRIDEi P31277.

    Protocols and materials databases

    DNASUi 3237.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000249504 ; ENSP00000249504 ; ENSG00000128713 .
    GeneIDi 3237.
    KEGGi hsa:3237.
    UCSCi uc002uki.3. human.

    Organism-specific databases

    CTDi 3237.
    GeneCardsi GC02P176936.
    HGNCi HGNC:5134. HOXD11.
    MIMi 142986. gene.
    neXtProti NX_P31277.
    PharmGKBi PA29408.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG305087.
    HOGENOMi HOG000231898.
    HOVERGENi HBG052048.
    KOi K09296.
    OMAi FYETAPG.
    OrthoDBi EOG7ZWD2F.
    PhylomeDBi P31277.
    TreeFami TF350668.

    Miscellaneous databases

    GeneWikii HOXD11.
    GenomeRNAii 3237.
    NextBioi 12883.
    PROi P31277.
    SOURCEi Search...

    Gene expression databases

    Bgeei P31277.
    CleanExi HS_HOXD11.
    Genevestigatori P31277.

    Family and domain databases

    Gene3Di 1.10.10.60. 1 hit.
    InterProi IPR021918. DUF3528.
    IPR017970. Homeobox_CS.
    IPR001356. Homeobox_dom.
    IPR020479. Homeobox_metazoa.
    IPR009057. Homeodomain-like.
    [Graphical view ]
    Pfami PF12045. DUF3528. 1 hit.
    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. "The role of HOXD11 and HOXD12 for the mesomelic dysplasia Kantaptra type."
      Miwa N., Yoshiura K., Kantaputra P.K., Soeda E., Niikawa N.
      Submitted (MAY-1999) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    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].
    3. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 266-331.
    4. "Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome."
      Zhao X., Sun M., Zhao J., Leyva J.A., Zhu H., Yang W., Zeng X., Ao Y., Liu Q., Liu G., Lo W.H.Y., Jabs E.W., Amzel L.M., Shan X., Zhang X.
      Am. J. Hum. Genet. 80:361-371(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT ASP-245.

    Entry informationi

    Entry nameiHXD11_HUMAN
    AccessioniPrimary (citable) accession number: P31277
    Secondary accession number(s): A6NIS4, Q9NS02
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 1, 1993
    Last sequence update: February 10, 2009
    Last modified: October 1, 2014
    This is version 131 of the entry and version 3 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. Vertebrate homeotic Hox proteins
      Nomenclature of vertebrate homeotic Hox proteins and list of entries
    2. Human chromosome 2
      Human chromosome 2: entries, gene names and cross-references to MIM
    3. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    4. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    5. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3