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P14651

- HXB3_HUMAN

UniProt

P14651 - HXB3_HUMAN

Protein

Homeobox protein Hox-B3

Gene

HOXB3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 141 (01 Oct 2014)
      Sequence version 2 (25 Nov 2008)
      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 bindingi188 – 24760HomeoboxPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. RNA polymerase II core promoter sequence-specific DNA binding Source: Ensembl
    2. sequence-specific DNA binding transcription factor activity Source: InterPro

    GO - Biological processi

    1. angiogenesis Source: UniProtKB
    2. anterior/posterior pattern specification Source: Ensembl
    3. cartilage development Source: Ensembl
    4. definitive hemopoiesis Source: Ensembl
    5. embryonic skeletal system morphogenesis Source: Ensembl
    6. face development Source: Ensembl
    7. glossopharyngeal nerve morphogenesis Source: Ensembl
    8. negative regulation of transcription from RNA polymerase II promoter Source: Ensembl
    9. regulation of neurogenesis Source: Ensembl
    10. rhombomere development Source: Ensembl
    11. thyroid gland development Source: Ensembl
    12. 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-B3
    Alternative name(s):
    Homeobox protein Hox-2.7
    Homeobox protein Hox-2G
    Gene namesi
    Name:HOXB3
    Synonyms:HOX2G
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 17

    Organism-specific databases

    HGNCiHGNC:5114. HOXB3.

    Subcellular locationi

    GO - Cellular componenti

    1. nucleus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA29390.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 431431Homeobox protein Hox-B3PRO_0000200117Add
    BLAST

    Proteomic databases

    PaxDbiP14651.
    PRIDEiP14651.

    Expressioni

    Developmental stagei

    Expressed in whole embryos and fetuses at 5-9 weeks from conception.

    Gene expression databases

    ArrayExpressiP14651.
    BgeeiP14651.
    CleanExiHS_HOXB3.
    GenevestigatoriP14651.

    Organism-specific databases

    HPAiCAB009860.

    Interactioni

    Protein-protein interaction databases

    BioGridi109453. 2 interactions.
    STRINGi9606.ENSP00000308252.

    Structurei

    3D structure databases

    ProteinModelPortaliP14651.
    SMRiP14651. Positions 190-247.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi129 – 1346Antp-type hexapeptide

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi154 – 17825Gly-richAdd
    BLAST

    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.
    InParanoidiP14651.
    KOiK09303.
    OMAiATYYDNT.
    OrthoDBiEOG754HPS.
    PhylomeDBiP14651.
    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]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: P14651-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MQKATYYDNA AAALFGGYSS YPGSNGFGFD VPPQPPFQAA THLEGDYQRS    50
    ACSLQSLGNA APHAKSKELN GSCMRPGLAP EPLSAPPGSP PPSAAPTSAT 100
    SNSSNGGGPS KSGPPKCGPG TNSTLTKQIF PWMKESRQTS KLKNNSPGTA 150
    EGCGGGGGGG GGGGSGGSGG GGGGGGGGDK SPPGSAASKR ARTAYTSAQL 200
    VELEKEFHFN RYLCRPRRVE MANLLNLSER QIKIWFQNRR MKYKKDQKAK 250
    GLASSSGGPS PAGSPPQPMQ STAGFMNALH SMTPSYESPS PPAFGKAHQN 300
    AYALPSNYQP PLKGCGAPQK YPPTPAPEYE PHVLQANGGA YGTPTMQGSP 350
    VYVGGGGYAD PLPPPAGPSL YGLNHLSHHP SGNLDYNGAP PMAPSQHHGP 400
    CEPHPTYTDL SSHHAPPPQG RIQEAPKLTH L 431
    Length:431
    Mass (Da):44,340
    Last modified:November 25, 2008 - v2
    Checksum:i56D39C0C9496E65A
    GO
    Isoform 2 (identifier: P14651-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-73: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:358
    Mass (Da):36,698
    Checksum:i8E6B18948B2AD02E
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti199 – 2002QL → HV in AAD10852. 1 PublicationCurated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti82 – 821P → T.4 Publications
    Corresponds to variant rs2229304 [ dbSNP | Ensembl ].
    VAR_047729

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 7373Missing in isoform 2. 1 PublicationVSP_056434Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X16667 mRNA. Translation: CAA34657.1.
    U59298 mRNA. Translation: AAD10852.1.
    AF287967 Genomic DNA. Translation: AAG31555.1.
    AK291182 mRNA. Translation: BAF83871.1.
    AK315102 mRNA. Translation: BAG37563.1.
    AK316245 mRNA. Translation: BAH14616.1.
    AC103702 Genomic DNA. No translation available.
    CH471109 Genomic DNA. Translation: EAW94739.1.
    CH471109 Genomic DNA. Translation: EAW94740.1.
    CH471109 Genomic DNA. Translation: EAW94741.1.
    X16175 Genomic DNA. Translation: CAA34297.1.
    CCDSiCCDS11528.1.
    PIRiS07543. WJHU2G.
    RefSeqiNP_002137.4. NM_002146.4.
    XP_005257334.1. XM_005257277.2.
    XP_005257337.1. XM_005257280.2.
    XP_006721917.1. XM_006721854.1.
    XP_006721918.1. XM_006721855.1.
    UniGeneiHs.654560.

    Genome annotation databases

    EnsembliENST00000311626; ENSP00000308252; ENSG00000120093.
    ENST00000470495; ENSP00000417207; ENSG00000120093.
    ENST00000472863; ENSP00000419676; ENSG00000120093.
    ENST00000476342; ENSP00000418892; ENSG00000120093.
    ENST00000498678; ENSP00000420595; ENSG00000120093.
    GeneIDi3213.
    KEGGihsa:3213.
    UCSCiuc002inn.3. human.

    Polymorphism databases

    DMDMi215274007.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X16667 mRNA. Translation: CAA34657.1 .
    U59298 mRNA. Translation: AAD10852.1 .
    AF287967 Genomic DNA. Translation: AAG31555.1 .
    AK291182 mRNA. Translation: BAF83871.1 .
    AK315102 mRNA. Translation: BAG37563.1 .
    AK316245 mRNA. Translation: BAH14616.1 .
    AC103702 Genomic DNA. No translation available.
    CH471109 Genomic DNA. Translation: EAW94739.1 .
    CH471109 Genomic DNA. Translation: EAW94740.1 .
    CH471109 Genomic DNA. Translation: EAW94741.1 .
    X16175 Genomic DNA. Translation: CAA34297.1 .
    CCDSi CCDS11528.1.
    PIRi S07543. WJHU2G.
    RefSeqi NP_002137.4. NM_002146.4.
    XP_005257334.1. XM_005257277.2.
    XP_005257337.1. XM_005257280.2.
    XP_006721917.1. XM_006721854.1.
    XP_006721918.1. XM_006721855.1.
    UniGenei Hs.654560.

    3D structure databases

    ProteinModelPortali P14651.
    SMRi P14651. Positions 190-247.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 109453. 2 interactions.
    STRINGi 9606.ENSP00000308252.

    Polymorphism databases

    DMDMi 215274007.

    Proteomic databases

    PaxDbi P14651.
    PRIDEi P14651.

    Protocols and materials databases

    DNASUi 3213.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000311626 ; ENSP00000308252 ; ENSG00000120093 .
    ENST00000470495 ; ENSP00000417207 ; ENSG00000120093 .
    ENST00000472863 ; ENSP00000419676 ; ENSG00000120093 .
    ENST00000476342 ; ENSP00000418892 ; ENSG00000120093 .
    ENST00000498678 ; ENSP00000420595 ; ENSG00000120093 .
    GeneIDi 3213.
    KEGGi hsa:3213.
    UCSCi uc002inn.3. human.

    Organism-specific databases

    CTDi 3213.
    GeneCardsi GC17M046626.
    HGNCi HGNC:5114. HOXB3.
    HPAi CAB009860.
    MIMi 142966. gene.
    neXtProti NX_P14651.
    PharmGKBi PA29390.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG284589.
    HOGENOMi HOG000252944.
    HOVERGENi HBG107984.
    InParanoidi P14651.
    KOi K09303.
    OMAi ATYYDNT.
    OrthoDBi EOG754HPS.
    PhylomeDBi P14651.
    TreeFami TF315938.

    Miscellaneous databases

    ChiTaRSi HOXB3. human.
    GeneWikii HOXB3.
    GenomeRNAii 3213.
    NextBioi 12784.
    PROi P14651.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P14651.
    Bgeei P14651.
    CleanExi HS_HOXB3.
    Genevestigatori P14651.

    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. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT THR-82.
    2. "Deregulated expression of HoxB3 in hematopoietic cells causes defective development of alpha beta T Lymphocytes and progressive myeloproliferation."
      Sauvageau G., Thorsteinsdottir U., Hough M.R., Hugo P., Lawrence H.J., Largman C., Humphries R.K.
      Submitted (MAY-1996) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT THR-82.
    3. "Overall linkage disequilibrium in 33 populations for highly informative multisite haplotypes spanning the HOXB gene cluster."
      Kidd K.K., Busygina V., DeMille M.M.C., Speed W.C., Ruggeri V., Kidd J.R., Pakstis A.J.
      Am. J. Hum. Genet. 67:235-235(2000)
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT THR-82.
    4. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
    5. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
      Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L.
      , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
      Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT THR-82.
    7. "Differential expression of human HOX-2 genes along the anterior-posterior axis in embryonic central nervous system."
      Giampaolo A., Acampora D., Zappavigna V., Pannese M., D'Esposito M., Care A., Faiella A., Stornaiuolo A., Russo G., Simeone A., Boncinelli E., Peschle C.
      Differentiation 40:191-197(1989) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 188-253.
      Tissue: Placenta.
    8. "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 188-253.

    Entry informationi

    Entry nameiHXB3_HUMAN
    AccessioniPrimary (citable) accession number: P14651
    Secondary accession number(s): A8K567
    , B7ZAD0, D3DTV3, O95615, P17484
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 1, 1990
    Last sequence update: November 25, 2008
    Last modified: October 1, 2014
    This is version 141 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. Vertebrate homeotic Hox proteins
      Nomenclature of vertebrate homeotic Hox proteins and list of entries
    2. Human chromosome 17
      Human chromosome 17: 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