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P31249

- HXD3_HUMAN

UniProt

P31249 - HXD3_HUMAN

Protein

Homeobox protein Hox-D3

Gene

HOXD3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 147 (01 Oct 2014)
      Sequence version 3 (03 Mar 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 bindingi194 – 25360HomeoboxPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

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

    GO - Biological processi

    1. anterior/posterior pattern specification Source: UniProtKB
    2. cartilage development Source: UniProtKB
    3. cell-matrix adhesion Source: UniProtKB
    4. embryonic skeletal system morphogenesis Source: UniProtKB
    5. glossopharyngeal nerve morphogenesis Source: Ensembl
    6. Notch signaling pathway Source: UniProtKB
    7. positive regulation of gene expression Source: UniProtKB
    8. positive regulation of neuron differentiation Source: UniProtKB
    9. thyroid gland development Source: UniProtKB
    10. transcription, DNA-templated Source: UniProtKB

    Keywords - Molecular functioni

    Developmental protein

    Keywords - Biological processi

    Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Homeobox protein Hox-D3
    Alternative name(s):
    Homeobox protein Hox-4A
    Gene namesi
    Name:HOXD3
    Synonyms:HOX1D, HOX4A
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 2

    Organism-specific databases

    HGNCiHGNC:5137. HOXD3.

    Subcellular locationi

    GO - Cellular componenti

    1. nucleus Source: UniProtKB

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA29411.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 432432Homeobox protein Hox-D3PRO_0000200204Add
    BLAST

    Proteomic databases

    PaxDbiP31249.
    PRIDEiP31249.

    PTM databases

    PhosphoSiteiP31249.

    Expressioni

    Gene expression databases

    ArrayExpressiP31249.
    BgeeiP31249.
    CleanExiHS_HOXD3.
    GenevestigatoriP31249.

    Organism-specific databases

    HPAiHPA051831.

    Interactioni

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    Hoxa1P090223EBI-3957655,EBI-3957603From a different organism.

    Protein-protein interaction databases

    BioGridi109472. 5 interactions.
    IntActiP31249. 1 interaction.
    STRINGi9606.ENSP00000249440.

    Structurei

    3D structure databases

    ProteinModelPortaliP31249.
    SMRiP31249. Positions 196-253.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi160 – 1656Antp-type hexapeptide

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi100 – 1045Poly-Gly
    Compositional biasi116 – 1249Poly-Pro
    Compositional biasi150 – 1534Poly-Ser

    Sequence similaritiesi

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

    Keywords - Domaini

    Homeobox

    Phylogenomic databases

    eggNOGiNOG284589.
    HOGENOMiHOG000252944.
    HOVERGENiHBG107984.
    InParanoidiP31249.
    KOiK09303.
    OMAiPSFAKPQ.
    PhylomeDBiP31249.
    TreeFamiTF315938.

    Family and domain databases

    Gene3Di1.10.10.60. 1 hit.
    InterProiIPR025281. DUF4074.
    IPR001827. Homeobox_Antennapedia_CS.
    IPR017970. Homeobox_CS.
    IPR001356. Homeobox_dom.
    IPR020479. Homeobox_metazoa.
    IPR009057. Homeodomain-like.
    [Graphical view]
    PfamiPF13293. DUF4074. 1 hit.
    PF00046. Homeobox. 1 hit.
    [Graphical view]
    PRINTSiPR00024. HOMEOBOX.
    SMARTiSM00389. HOX. 1 hit.
    [Graphical view]
    SUPFAMiSSF46689. SSF46689. 1 hit.
    PROSITEiPS00032. ANTENNAPEDIA. 1 hit.
    PS00027. HOMEOBOX_1. 1 hit.
    PS50071. HOMEOBOX_2. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    P31249-1 [UniParc]FASTAAdd to Basket

    « Hide

    MLFEQGQQAL ELPECTMQKA AYYENPGLFG GYGYSKTTDT YGYSTPHQPY    50
    PPPAAASSLD TDYPGSACSI QSSAPLRAPA HKGAELNGSC MRPGTGNSQG 100
    GGGGSQPPGL NSEQQPPQPP PPPPTLPPSS PTNPGGGVPA KKPKGGPNAS 150
    SSSATISKQI FPWMKESRQN SKQKNSCATA GESCEDKSPP GPASKRVRTA 200
    YTSAQLVELE KEFHFNRYLC RPRRVEMANL LNLTERQIKI WFQNRRMKYK 250
    KDQKAKGILH SPASQSPERS PPLGGAAGHV AYSGQLPPVP GLAYDAPSPP 300
    AFAKSQPNMY GLAAYTAPLS SCLPQQKRYA APEFEPHPMA SNGGGFASAN 350
    LQGSPVYVGG NFVESMAPAS GPVFNLGHLS HPSSASVDYS CAAQIPGNHH 400
    HGPCDPHPTY TDLSAHHSSQ GRLPEAPKLT HL 432
    Length:432
    Mass (Da):45,730
    Last modified:March 3, 2009 - v3
    Checksum:iBC962D2AA076B87B
    GO

    Sequence cautioni

    The sequence BAA01891.1 differs from that shown. Reason: Erroneous initiation.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti257 – 2571G → A(PubMed:2576652)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti129 – 1291S → C.
    Corresponds to variant rs1051932 [ dbSNP | Ensembl ].
    VAR_011881

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    D11117 Genomic DNA. Translation: BAA01891.1. Different initiation.
    Y09980 Genomic DNA. Translation: CAA71102.1.
    AC009336 Genomic DNA. No translation available.
    BC005124 mRNA. Translation: AAH05124.1.
    BC008789 mRNA. Translation: AAH08789.1.
    CCDSiCCDS2270.1.
    PIRiS15548.
    S27198.
    RefSeqiNP_008829.3. NM_006898.4.
    XP_005246566.1. XM_005246509.1.
    XP_005246567.1. XM_005246510.2.
    XP_005246568.1. XM_005246511.1.
    XP_005246569.1. XM_005246512.1.
    XP_005246570.1. XM_005246513.2.
    XP_006712540.1. XM_006712477.1.
    UniGeneiHs.93574.

    Genome annotation databases

    EnsembliENST00000249440; ENSP00000249440; ENSG00000128652.
    ENST00000410016; ENSP00000386498; ENSG00000128652.
    GeneIDi3232.
    KEGGihsa:3232.
    UCSCiuc002ukt.1. human.

    Polymorphism databases

    DMDMi224471887.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    D11117 Genomic DNA. Translation: BAA01891.1 . Different initiation.
    Y09980 Genomic DNA. Translation: CAA71102.1 .
    AC009336 Genomic DNA. No translation available.
    BC005124 mRNA. Translation: AAH05124.1 .
    BC008789 mRNA. Translation: AAH08789.1 .
    CCDSi CCDS2270.1.
    PIRi S15548.
    S27198.
    RefSeqi NP_008829.3. NM_006898.4.
    XP_005246566.1. XM_005246509.1.
    XP_005246567.1. XM_005246510.2.
    XP_005246568.1. XM_005246511.1.
    XP_005246569.1. XM_005246512.1.
    XP_005246570.1. XM_005246513.2.
    XP_006712540.1. XM_006712477.1.
    UniGenei Hs.93574.

    3D structure databases

    ProteinModelPortali P31249.
    SMRi P31249. Positions 196-253.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 109472. 5 interactions.
    IntActi P31249. 1 interaction.
    STRINGi 9606.ENSP00000249440.

    PTM databases

    PhosphoSitei P31249.

    Polymorphism databases

    DMDMi 224471887.

    Proteomic databases

    PaxDbi P31249.
    PRIDEi P31249.

    Protocols and materials databases

    DNASUi 3232.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000249440 ; ENSP00000249440 ; ENSG00000128652 .
    ENST00000410016 ; ENSP00000386498 ; ENSG00000128652 .
    GeneIDi 3232.
    KEGGi hsa:3232.
    UCSCi uc002ukt.1. human.

    Organism-specific databases

    CTDi 3232.
    GeneCardsi GC02P177001.
    HGNCi HGNC:5137. HOXD3.
    HPAi HPA051831.
    MIMi 142980. gene.
    neXtProti NX_P31249.
    PharmGKBi PA29411.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG284589.
    HOGENOMi HOG000252944.
    HOVERGENi HBG107984.
    InParanoidi P31249.
    KOi K09303.
    OMAi PSFAKPQ.
    PhylomeDBi P31249.
    TreeFami TF315938.

    Miscellaneous databases

    GeneWikii HOXD3.
    GenomeRNAii 3232.
    NextBioi 12861.
    PROi P31249.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P31249.
    Bgeei P31249.
    CleanExi HS_HOXD3.
    Genevestigatori P31249.

    Family and domain databases

    Gene3Di 1.10.10.60. 1 hit.
    InterProi IPR025281. DUF4074.
    IPR001827. Homeobox_Antennapedia_CS.
    IPR017970. Homeobox_CS.
    IPR001356. Homeobox_dom.
    IPR020479. Homeobox_metazoa.
    IPR009057. Homeodomain-like.
    [Graphical view ]
    Pfami PF13293. DUF4074. 1 hit.
    PF00046. Homeobox. 1 hit.
    [Graphical view ]
    PRINTSi PR00024. HOMEOBOX.
    SMARTi SM00389. HOX. 1 hit.
    [Graphical view ]
    SUPFAMi SSF46689. SSF46689. 1 hit.
    PROSITEi PS00032. ANTENNAPEDIA. 1 hit.
    PS00027. HOMEOBOX_1. 1 hit.
    PS50071. HOMEOBOX_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Cloning and sequencing of the human homeobox gene HOX4A."
      Taniguchi Y., Fujii A., Moriuchi T.
      Biochim. Biophys. Acta 1132:332-334(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    2. Cianetti L.
      Submitted (DEC-1996) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    3. "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].
    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].
      Tissue: Brain and Lung.
    5. "Organization of human class I homeobox genes."
      Boncinelli E., Acampora D., Pannese M., D'Esposito M., Somma R., Gaudino G., Stornaiuolo A., Cafiero M., Faiella A., Simeone A.
      Genome 31:745-756(1989) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 194-259.

    Entry informationi

    Entry nameiHXD3_HUMAN
    AccessioniPrimary (citable) accession number: P31249
    Secondary accession number(s): Q99955, Q9BSC5
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 1, 1993
    Last sequence update: March 3, 2009
    Last modified: October 1, 2014
    This is version 147 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

    Caution

    It is uncertain whether Met-1 or Met-17 is the initiator.Curated

    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