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P31270

- HXA11_HUMAN

UniProt

P31270 - HXA11_HUMAN

Protein

Homeobox protein Hox-A11

Gene

HOXA11

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 144 (01 Oct 2014)
      Sequence version 2 (21 Feb 2001)
      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 bindingi241 – 30060HomeoboxPROSITE-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. anatomical structure morphogenesis Source: ProtInc
    2. anterior/posterior pattern specification Source: Ensembl
    3. branching involved in ureteric bud morphogenesis Source: UniProtKB
    4. cartilage development involved in endochondral bone morphogenesis Source: UniProtKB
    5. developmental growth Source: UniProtKB
    6. dorsal/ventral pattern formation Source: UniProtKB
    7. embryonic digit morphogenesis Source: Ensembl
    8. embryonic forelimb morphogenesis Source: Ensembl
    9. embryonic limb morphogenesis Source: UniProtKB
    10. embryonic skeletal joint morphogenesis Source: Ensembl
    11. mesodermal cell fate specification Source: UniProtKB
    12. metanephros development Source: Ensembl
    13. multicellular organismal development Source: UniProtKB
    14. organ induction Source: Ensembl
    15. positive regulation of cell development Source: UniProtKB
    16. positive regulation of chondrocyte differentiation Source: UniProtKB
    17. positive regulation of transcription, DNA-templated Source: UniProtKB
    18. proximal/distal pattern formation Source: Ensembl
    19. skeletal system development Source: UniProtKB
    20. transcription, DNA-templated Source: UniProtKB-KW

    Keywords - Molecular functioni

    Developmental protein

    Keywords - Biological processi

    Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Enzyme and pathway databases

    SignaLinkiP31270.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Homeobox protein Hox-A11
    Alternative name(s):
    Homeobox protein Hox-1I
    Gene namesi
    Name:HOXA11
    Synonyms:HOX1I
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 7

    Organism-specific databases

    HGNCiHGNC:5101. HOXA11.

    Subcellular locationi

    GO - Cellular componenti

    1. nucleus Source: UniProtKB-SubCell
    2. protein complex Source: UniProtKB
    3. protein-DNA complex Source: UniProtKB
    4. transcription factor complex Source: UniProtKB

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Radioulnar synostosis with amegakaryocytic thrombocytopenia (RSAT) [MIM:605432]: The syndrome consists of an unusual association of bone marrow failure and skeletal defects. Patients have the same skeletal defects, the proximal fusion of the radius and ulna, resulting in extremely limited pronation and supination of the forearm. Some patients have also symptomatic thrombocytopenia, with bruising and bleeding problems since birth, necessitating correction by bone marrow or umbilical-cord stem-cell transplantation.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Organism-specific databases

    MIMi605432. phenotype.
    Orphaneti71289. Radio-ulnar synostosis - amegakaryocytic thrombocytopenia.
    PharmGKBiPA29378.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 313313Homeobox protein Hox-A11PRO_0000200095Add
    BLAST

    Proteomic databases

    MaxQBiP31270.
    PaxDbiP31270.
    PRIDEiP31270.

    PTM databases

    PhosphoSiteiP31270.

    Expressioni

    Gene expression databases

    BgeeiP31270.
    CleanExiHS_HOXA11.
    GenevestigatoriP31270.

    Organism-specific databases

    HPAiHPA035623.

    Interactioni

    Protein-protein interaction databases

    BioGridi109447. 6 interactions.
    IntActiP31270. 1 interaction.
    STRINGi9606.ENSP00000006015.

    Structurei

    3D structure databases

    ProteinModelPortaliP31270.
    SMRiP31270. Positions 241-300.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi177 – 1837Poly-Ala
    Compositional biasi195 – 1995Poly-Gly
    Compositional biasi204 – 2074Poly-Ala
    Compositional biasi212 – 2154Poly-Arg
    Compositional biasi218 – 2214Poly-Ser

    Sequence similaritiesi

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

    Keywords - Domaini

    Homeobox

    Phylogenomic databases

    eggNOGiNOG274734.
    HOGENOMiHOG000231898.
    HOVERGENiHBG052048.
    InParanoidiP31270.
    KOiK09296.
    OMAiLQYYSAN.
    PhylomeDBiP31270.
    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.

    P31270-1 [UniParc]FASTAAdd to Basket

    « Hide

    MDFDERGPCS SNMYLPSCTY YVSGPDFSSL PSFLPQTPSS RPMTYSYSSN    50
    LPQVQPVREV TFREYAIEPA TKWHPRGNLA HCYSAEELVH RDCLQAPSAA 100
    GVPGDVLAKS SANVYHHPTP AVSSNFYSTV GRNGVLPQAF DQFFETAYGT 150
    PENLASSDYP GDKSAEKGPP AATATSAAAA AAATGAPATS SSDSGGGGGC 200
    RETAAAAEEK ERRRRPESSS SPESSSGHTE DKAGGSSGQR TRKKRCPYTK 250
    YQIRELEREF FFSVYINKEK RLQLSRMLNL TDRQVKIWFQ NRRMKEKKIN 300
    RDRLQYYSAN PLL 313
    Length:313
    Mass (Da):34,486
    Last modified:February 21, 2001 - v2
    Checksum:iB345B987816AB9FB
    GO

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF071164 Genomic DNA. Translation: AAC80455.1.
    AF039307 Genomic DNA. Translation: AAB94761.1.
    AC004080 Genomic DNA. No translation available.
    CH236948 Genomic DNA. Translation: EAL24220.1.
    CH471073 Genomic DNA. Translation: EAW93888.1.
    BC040948 mRNA. Translation: AAH40948.1.
    CCDSiCCDS5411.1.
    PIRiS14931.
    RefSeqiNP_005514.1. NM_005523.5.
    UniGeneiHs.249171.

    Genome annotation databases

    EnsembliENST00000006015; ENSP00000006015; ENSG00000005073.
    GeneIDi3207.
    KEGGihsa:3207.
    UCSCiuc003syx.3. human.

    Polymorphism databases

    DMDMi13124744.

    Cross-referencesi

    Web resourcesi

    Atlas of Genetics and Cytogenetics in Oncology and Haematology

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF071164 Genomic DNA. Translation: AAC80455.1 .
    AF039307 Genomic DNA. Translation: AAB94761.1 .
    AC004080 Genomic DNA. No translation available.
    CH236948 Genomic DNA. Translation: EAL24220.1 .
    CH471073 Genomic DNA. Translation: EAW93888.1 .
    BC040948 mRNA. Translation: AAH40948.1 .
    CCDSi CCDS5411.1.
    PIRi S14931.
    RefSeqi NP_005514.1. NM_005523.5.
    UniGenei Hs.249171.

    3D structure databases

    ProteinModelPortali P31270.
    SMRi P31270. Positions 241-300.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 109447. 6 interactions.
    IntActi P31270. 1 interaction.
    STRINGi 9606.ENSP00000006015.

    PTM databases

    PhosphoSitei P31270.

    Polymorphism databases

    DMDMi 13124744.

    Proteomic databases

    MaxQBi P31270.
    PaxDbi P31270.
    PRIDEi P31270.

    Protocols and materials databases

    DNASUi 3207.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000006015 ; ENSP00000006015 ; ENSG00000005073 .
    GeneIDi 3207.
    KEGGi hsa:3207.
    UCSCi uc003syx.3. human.

    Organism-specific databases

    CTDi 3207.
    GeneCardsi GC07M027220.
    HGNCi HGNC:5101. HOXA11.
    HPAi HPA035623.
    MIMi 142958. gene.
    605432. phenotype.
    neXtProti NX_P31270.
    Orphaneti 71289. Radio-ulnar synostosis - amegakaryocytic thrombocytopenia.
    PharmGKBi PA29378.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG274734.
    HOGENOMi HOG000231898.
    HOVERGENi HBG052048.
    InParanoidi P31270.
    KOi K09296.
    OMAi LQYYSAN.
    PhylomeDBi P31270.
    TreeFami TF350668.

    Enzyme and pathway databases

    SignaLinki P31270.

    Miscellaneous databases

    ChiTaRSi HOXA11. human.
    GeneWikii HOXA11.
    GenomeRNAii 3207.
    NextBioi 12762.
    PROi P31270.
    SOURCEi Search...

    Gene expression databases

    Bgeei P31270.
    CleanExi HS_HOXA11.
    Genevestigatori P31270.

    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. "Evolutionary conservation and tissue-specific processing of hoxa 11 antisense transcripts."
      Potter S.S., Branford W.W.
      Mamm. Genome 9:799-806(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    2. Mi X., Winters J.L., Stevens D.B., Fleischman R.A.
      Submitted (DEC-1997) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    3. "Human chromosome 7: DNA sequence and biology."
      Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K., Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R., Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A., Kanematsu E., Gentles S.
      , Christopoulos C.C., Choufani S., Kwasnicka D., Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S., Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R., Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N., Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E., Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R., Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T., Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W., Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A., Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X., Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E., Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H., Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J., Adams M.D., Tsui L.-C.
      Science 300:767-772(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "The DNA sequence of human chromosome 7."
      Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L.
      , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.
      Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "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: Ovary.
    7. Cited for: NUCLEOTIDE SEQUENCE OF 241-306.
    8. "Amegakaryocytic thrombocytopenia and radio-ulnar synostosis are associated with HOXA11 mutation."
      Thompson A.A., Nguyen L.T.
      Nat. Genet. 26:397-398(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN RSAT.

    Entry informationi

    Entry nameiHXA11_HUMAN
    AccessioniPrimary (citable) accession number: P31270
    Secondary accession number(s): A4D190
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 1, 1993
    Last sequence update: February 21, 2001
    Last modified: October 1, 2014
    This is version 144 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 7
      Human chromosome 7: entries, gene names and cross-references to MIM
    3. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    4. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3