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P14653

- HXB1_HUMAN

UniProt

P14653 - HXB1_HUMAN

Protein

Homeobox protein Hox-B1

Gene

HOXB1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 152 (01 Oct 2014)
      Sequence version 2 (07 Jul 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. Acts on the anterior body structures.

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi203 – 26260HomeoboxPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. DNA binding Source: UniProtKB
    2. protein domain specific binding Source: UniProtKB
    3. sequence-specific DNA binding Source: Ensembl
    4. sequence-specific DNA binding transcription factor activity Source: InterPro

    GO - Biological processi

    1. anatomical structure formation involved in morphogenesis Source: Ensembl
    2. anterior/posterior pattern specification Source: Ensembl
    3. embryonic skeletal system morphogenesis Source: Ensembl
    4. facial nerve structural organization Source: Ensembl
    5. facial nucleus development Source: Ensembl
    6. multicellular organismal development Source: UniProtKB
    7. pattern specification process Source: UniProtKB
    8. positive regulation of transcription from RNA polymerase II promoter Source: Ensembl
    9. regulation of transcription, DNA-templated Source: UniProtKB
    10. rhombomere 4 development Source: Ensembl
    11. rhombomere 5 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-B1
    Alternative name(s):
    Homeobox protein Hox-2I
    Gene namesi
    Name:HOXB1
    Synonyms:HOX2I
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 17

    Organism-specific databases

    HGNCiHGNC:5111. HOXB1.

    Subcellular locationi

    GO - Cellular componenti

    1. nucleus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Facial paresis, hereditary congenital, 3 (HCFP3) [MIM:614744]: A form of facial paresis, a disease characterized by isolated dysfunction of the facial nerve (CN VII). HCFP3 patients are affected by bilateral facial palsy, facial muscle weakness of muscles innervated by CN VII, hearing loss, and strabismus.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti207 – 2071R → C in HCFP3; decreased transactivation activity at low DNA concentrations; increased transactivation activity at high DNA concentrations compared to wild-type. 1 Publication
    VAR_068723

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi614744. phenotype.
    Orphaneti306530. Congenital hereditary facial paralysis with variable hearing loss.
    PharmGKBiPA29387.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 301301Homeobox protein Hox-B1PRO_0000200107Add
    BLAST

    Proteomic databases

    PaxDbiP14653.
    PRIDEiP14653.

    PTM databases

    PhosphoSiteiP14653.

    Expressioni

    Gene expression databases

    ArrayExpressiP14653.
    BgeeiP14653.
    CleanExiHS_HOXB1.
    GenevestigatoriP14653.

    Organism-specific databases

    HPAiHPA044576.

    Interactioni

    Protein-protein interaction databases

    BioGridi109451. 4 interactions.
    DIPiDIP-6106N.
    IntActiP14653. 1 interaction.
    STRINGi9606.ENSP00000355140.

    Structurei

    Secondary structure

    1
    301
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi181 – 1844
    Helixi212 – 22211
    Helixi230 – 24011
    Helixi244 – 26219

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    1B72X-ray2.35A170-264[»]
    ProteinModelPortaliP14653.
    SMRiP14653. Positions 177-264.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiP14653.

    Family & Domainsi

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi179 – 1846Antp-type hexapeptide

    Sequence similaritiesi

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

    Keywords - Domaini

    Homeobox

    Phylogenomic databases

    eggNOGiNOG236971.
    HOGENOMiHOG000247020.
    HOVERGENiHBG006089.
    InParanoidiP14653.
    KOiK09301.
    OMAiYAICNRG.
    OrthoDBiEOG7PK91P.
    PhylomeDBiP14653.
    TreeFamiTF317730.

    Family and domain databases

    Gene3Di1.10.10.60. 1 hit.
    InterProiIPR017970. Homeobox_CS.
    IPR001356. Homeobox_dom.
    IPR020479. Homeobox_metazoa.
    IPR009057. Homeodomain-like.
    [Graphical view]
    PfamiPF00046. 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.

    P14653-1 [UniParc]FASTAAdd to Basket

    « Hide

    MDYNRMNSFL EYPLCNRGPS AYSAHSAPTS FPPSSAQAVD SYASEGRYGG    50
    GLSSPAFQQN SGYPAQQPPS TLGVPFPSSA PSGYAPAACS PSYGPSQYYP 100
    LGQSEGDGGY FHPSSYGAQL GGLSDGYGAG GAGPGPYPPQ HPPYGNEQTA 150
    SFAPAYADLL SEDKETPCPS EPNTPTARTF DWMKVKRNPP KTAKVSEPGL 200
    GSPSGLRTNF TTRQLTELEK EFHFNKYLSR ARRVEIAATL ELNETQVKIW 250
    FQNRRMKQKK REREEGRVPP APPGCPKEAA GDASDQSTCT SPEASPSSVT 300
    S 301
    Length:301
    Mass (Da):32,193
    Last modified:July 7, 2009 - v2
    Checksum:i6752A8C28AC55D11
    GO

    Polymorphismi

    The two common alleles; HOX1B*A and HOX1B*B have a frequency of 78.8% and 21.2% respectively.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti27 – 271A → AHSA in allele HOXB1*B. 2 Publications
    VAR_003817
    Natural varianti71 – 711T → N.
    Corresponds to variant rs35254561 [ dbSNP | Ensembl ].
    VAR_055959
    Natural varianti103 – 1031Q → H.
    Corresponds to variant rs12939811 [ dbSNP | Ensembl ].
    VAR_055960
    Natural varianti207 – 2071R → C in HCFP3; decreased transactivation activity at low DNA concentrations; increased transactivation activity at high DNA concentrations compared to wild-type. 1 Publication
    VAR_068723
    Natural varianti265 – 2651E → G.2 Publications
    Corresponds to variant rs7226137 [ dbSNP | Ensembl ].
    VAR_058129

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X16666 mRNA. Translation: CAA34656.1.
    AC103702 Genomic DNA. No translation available.
    CCDSiCCDS32675.1.
    PIRiS07541. WJHU2I.
    RefSeqiNP_002135.2. NM_002144.3.
    UniGeneiHs.99992.

    Genome annotation databases

    EnsembliENST00000239174; ENSP00000355140; ENSG00000120094.
    GeneIDi3211.
    KEGGihsa:3211.
    UCSCiuc002ink.1. human.

    Polymorphism databases

    DMDMi251757285.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X16666 mRNA. Translation: CAA34656.1 .
    AC103702 Genomic DNA. No translation available.
    CCDSi CCDS32675.1.
    PIRi S07541. WJHU2I.
    RefSeqi NP_002135.2. NM_002144.3.
    UniGenei Hs.99992.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    1B72 X-ray 2.35 A 170-264 [» ]
    ProteinModelPortali P14653.
    SMRi P14653. Positions 177-264.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 109451. 4 interactions.
    DIPi DIP-6106N.
    IntActi P14653. 1 interaction.
    STRINGi 9606.ENSP00000355140.

    PTM databases

    PhosphoSitei P14653.

    Polymorphism databases

    DMDMi 251757285.

    Proteomic databases

    PaxDbi P14653.
    PRIDEi P14653.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000239174 ; ENSP00000355140 ; ENSG00000120094 .
    GeneIDi 3211.
    KEGGi hsa:3211.
    UCSCi uc002ink.1. human.

    Organism-specific databases

    CTDi 3211.
    GeneCardsi GC17M046606.
    HGNCi HGNC:5111. HOXB1.
    HPAi HPA044576.
    MIMi 142968. gene.
    614744. phenotype.
    neXtProti NX_P14653.
    Orphaneti 306530. Congenital hereditary facial paralysis with variable hearing loss.
    PharmGKBi PA29387.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG236971.
    HOGENOMi HOG000247020.
    HOVERGENi HBG006089.
    InParanoidi P14653.
    KOi K09301.
    OMAi YAICNRG.
    OrthoDBi EOG7PK91P.
    PhylomeDBi P14653.
    TreeFami TF317730.

    Miscellaneous databases

    EvolutionaryTracei P14653.
    GeneWikii HOXB1.
    GenomeRNAii 3211.
    NextBioi 12776.
    PROi P14653.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P14653.
    Bgeei P14653.
    CleanExi HS_HOXB1.
    Genevestigatori P14653.

    Family and domain databases

    Gene3Di 1.10.10.60. 1 hit.
    InterProi IPR017970. Homeobox_CS.
    IPR001356. Homeobox_dom.
    IPR020479. Homeobox_metazoa.
    IPR009057. Homeodomain-like.
    [Graphical view ]
    Pfami 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. Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT GLY-265.
    2. "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].
    3. "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 203-268, VARIANT GLY-265.
    4. "Structure of a HoxB1-Pbx1 heterodimer bound to DNA: role of the hexapeptide and a fourth homeodomain helix in complex formation."
      Piper D.E., Batchelor A.H., Chang C.-P., Cleary M.L., Wolberger C.
      Cell 96:587-597(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: X-RAY CRYSTALLOGRAPHY (2.35 ANGSTROMS) OF 170-266 IN COMPLEX WITH PBX1.
    5. "A genetic polymorphism in the human HOXB1 homeobox gene implying a 9bp tandem repeat in the amino-terminal coding region."
      Faiella A., Zortea M., Barbaria E., Albani F., Capra V., Cama A., Boncinelli E.
      Hum. Mutat. 12:363-363(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HOXB1*B HIS-SER-ALA-27 INS.
    6. "Discovery of allelic variants of HOXA1 and HOXB1: genetic susceptibility to autism spectrum disorders."
      Ingram J.L., Stodgell C.J., Hyman S.L., Figlewicz D.A., Weitkamp L.R., Rodier P.M.
      Teratology 62:393-405(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HOXB1*B HIS-SER-ALA-27 INS.
    7. Cited for: VARIANT HCFP3 CYS-207, CHARACTERIZATION OF VARIANT HCFP3 CYS-207.

    Entry informationi

    Entry nameiHXB1_HUMAN
    AccessioniPrimary (citable) accession number: P14653
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: April 1, 1990
    Last sequence update: July 7, 2009
    Last modified: October 1, 2014
    This is version 152 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

    3D-structure, 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. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    7. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3