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P31271

- HXA13_HUMAN

UniProt

P31271 - HXA13_HUMAN

Protein

Homeobox protein Hox-A13

Gene

HOXA13

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 140 (01 Oct 2014)
      Sequence version 3 (17 Oct 2006)
      Previous versions | rss
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    Functioni

    Sequence-specific, AT-rich binding transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.
    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 bindingi322 – 38160HomeoboxPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. DNA binding Source: ProtInc
    2. sequence-specific DNA binding Source: InterPro
    3. sequence-specific DNA binding transcription factor activity Source: Ensembl
    4. transcription regulatory region DNA binding Source: Ensembl

    GO - Biological processi

    1. artery morphogenesis Source: Ensembl
    2. branching involved in prostate gland morphogenesis Source: Ensembl
    3. embryonic forelimb morphogenesis Source: Ensembl
    4. endothelial cell fate specification Source: Ensembl
    5. endothelial cell morphogenesis Source: Ensembl
    6. inner ear development Source: Ensembl
    7. male genitalia development Source: Ensembl
    8. positive regulation of mesenchymal cell apoptotic process Source: Ensembl
    9. positive regulation of mitosis Source: Ensembl
    10. positive regulation of transcription from RNA polymerase II promoter Source: Ensembl
    11. regulation of BMP signaling pathway Source: Ensembl
    12. skeletal system development Source: ProtInc
    13. tissue homeostasis Source: Ensembl
    14. transcription, DNA-templated Source: UniProtKB-KW
    15. vasculogenesis Source: Ensembl
    16. ventricular septum development Source: Ensembl

    Keywords - Molecular functioni

    Developmental protein

    Keywords - Biological processi

    Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Enzyme and pathway databases

    SignaLinkiP31271.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Homeobox protein Hox-A13
    Alternative name(s):
    Homeobox protein Hox-1J
    Gene namesi
    Name:HOXA13
    Synonyms:HOX1J
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 7

    Organism-specific databases

    HGNCiHGNC:5102. HOXA13.

    Subcellular locationi

    GO - Cellular componenti

    1. intermediate filament cytoskeleton Source: HPA
    2. nucleus Source: HPA

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Hand-foot-genital syndrome (HFG) [MIM:140000]: A disorder characterized by limb and genitourinary anomalies. Clinical features include small feet with unusually short great toes and abnormal thumbs. Females with the disorder have duplication of the genital tract.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti125 – 1251A → AAAAAAA in HFG. 1 Publication
    VAR_017773
    Natural varianti129 – 1291A → AAAAAAAAA in HFG.
    VAR_017774
    Natural varianti372 – 3721N → H in HFG; severe. 1 Publication
    VAR_017776
    Guttmacher syndrome (GUTTS) [MIM:176305]: Dominantly inherited combination of distal limb and genital tract abnormalities. It has several features in common with hand-foot-genital syndrome, including hypoplastic first digits and hypospadias. Typical features not seen in hand-foot-genital syndrome include postaxial polydactyly of the hands and uniphalangeal second toes with absent nails.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti371 – 3711Q → L in GUTTS. 1 Publication
    VAR_017775

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi140000. phenotype.
    176305. phenotype.
    Orphaneti2957. Guttmacher syndrome.
    2438. Hand-foot-genital syndrome.
    PharmGKBiPA29379.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 388388Homeobox protein Hox-A13PRO_0000200101Add
    BLAST

    Proteomic databases

    MaxQBiP31271.
    PaxDbiP31271.
    PRIDEiP31271.

    PTM databases

    PhosphoSiteiP31271.

    Expressioni

    Gene expression databases

    BgeeiP31271.
    CleanExiHS_HOXA13.
    GenevestigatoriP31271.

    Organism-specific databases

    HPAiHPA046098.

    Interactioni

    Subunit structurei

    Binds DNA as a homodimer. Interacts with MEIS1, MEIS2 and MEIS3 By similarity.By similarity

    Protein-protein interaction databases

    BioGridi109449. 1 interaction.
    STRINGi9606.ENSP00000222753.

    Structurei

    Secondary structure

    1
    388
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi331 – 34313
    Helixi349 – 35911
    Helixi364 – 37714
    Beta strandi380 – 3856

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    2L7ZNMR-A322-388[»]
    ProteinModelPortaliP31271.
    SMRiP31271. Positions 322-388.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi38 – 5316Poly-AlaAdd
    BLAST
    Compositional biasi62 – 665Poly-Ala
    Compositional biasi73 – 8412Poly-AlaAdd
    BLAST
    Compositional biasi116 – 13318Poly-AlaAdd
    BLAST
    Compositional biasi200 – 2078Poly-Ala

    Sequence similaritiesi

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

    Keywords - Domaini

    Homeobox

    Phylogenomic databases

    eggNOGiNOG276440.
    HOGENOMiHOG000231176.
    HOVERGENiHBG106958.
    InParanoidiP31271.
    KOiK09298.
    OMAiLMAHPAS.
    OrthoDBiEOG7SJD53.
    PhylomeDBiP31271.
    TreeFamiTF330813.

    Family and domain databases

    Gene3Di1.10.10.60. 1 hit.
    InterProiIPR017970. Homeobox_CS.
    IPR001356. Homeobox_dom.
    IPR009057. Homeodomain-like.
    IPR022067. HoxA13_N.
    [Graphical view]
    PfamiPF00046. Homeobox. 1 hit.
    PF12284. HoxA13_N. 2 hits.
    [Graphical view]
    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.

    P31271-1 [UniParc]FASTAAdd to Basket

    « Hide

    MTASVLLHPR WIEPTVMFLY DNGGGLVADE LNKNMEGAAA AAAAAAAAAA    50
    AGAGGGGFPH PAAAAAGGNF SVAAAAAAAA AAAANQCRNL MAHPAPLAPG 100
    AASAYSSAPG EAPPSAAAAA AAAAAAAAAA AAASSSGGPG PAGPAGAEAA 150
    KQCSPCSAAA QSSSGPAALP YGYFGSGYYP CARMGPHPNA IKSCAQPASA 200
    AAAAAFADKY MDTAGPAAEE FSSRAKEFAF YHQGYAAGPY HHHQPMPGYL 250
    DMPVVPGLGG PGESRHEPLG LPMESYQPWA LPNGWNGQMY CPKEQAQPPH 300
    LWKSTLPDVV SHPSDASSYR RGRKKRVPYT KVQLKELERE YATNKFITKD 350
    KRRRISATTN LSERQVTIWF QNRRVKEKKV INKLKTTS 388
    Length:388
    Mass (Da):39,727
    Last modified:October 17, 2006 - v3
    Checksum:i3512E7622FA931C4
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti146 – 1461G → A in AAC50993. (PubMed:9020844)Curated
    Sequence conflicti187 – 1871H → P in AAC50993. (PubMed:9020844)Curated
    Sequence conflicti195 – 1951A → P in AAC50993. (PubMed:9020844)Curated
    Sequence conflicti198 – 1981A → P in AAC50993. (PubMed:9020844)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti125 – 1251A → AAAAAAA in HFG. 1 Publication
    VAR_017773
    Natural varianti129 – 1291A → AAAAAAAAA in HFG.
    VAR_017774
    Natural varianti371 – 3711Q → L in GUTTS. 1 Publication
    VAR_017775
    Natural varianti372 – 3721N → H in HFG; severe. 1 Publication
    VAR_017776

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U82827 Genomic DNA. Translation: AAC50993.1.
    AC004080 Genomic DNA. No translation available.
    CH471073 Genomic DNA. Translation: EAW93890.1.
    CH236948 Genomic DNA. Translation: EAL24218.1.
    CCDSiCCDS5412.1.
    PIRiS14932.
    RefSeqiNP_000513.2. NM_000522.4.
    UniGeneiHs.592172.

    Genome annotation databases

    EnsembliENST00000222753; ENSP00000222753; ENSG00000106031.
    GeneIDi3209.
    KEGGihsa:3209.
    UCSCiuc003szb.1. human.

    Polymorphism databases

    DMDMi116242513.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U82827 Genomic DNA. Translation: AAC50993.1 .
    AC004080 Genomic DNA. No translation available.
    CH471073 Genomic DNA. Translation: EAW93890.1 .
    CH236948 Genomic DNA. Translation: EAL24218.1 .
    CCDSi CCDS5412.1.
    PIRi S14932.
    RefSeqi NP_000513.2. NM_000522.4.
    UniGenei Hs.592172.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    2L7Z NMR - A 322-388 [» ]
    ProteinModelPortali P31271.
    SMRi P31271. Positions 322-388.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 109449. 1 interaction.
    STRINGi 9606.ENSP00000222753.

    PTM databases

    PhosphoSitei P31271.

    Polymorphism databases

    DMDMi 116242513.

    Proteomic databases

    MaxQBi P31271.
    PaxDbi P31271.
    PRIDEi P31271.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000222753 ; ENSP00000222753 ; ENSG00000106031 .
    GeneIDi 3209.
    KEGGi hsa:3209.
    UCSCi uc003szb.1. human.

    Organism-specific databases

    CTDi 3209.
    GeneCardsi GC07M027246.
    GeneReviewsi HOXA13.
    H-InvDB HIX0201189.
    HGNCi HGNC:5102. HOXA13.
    HPAi HPA046098.
    MIMi 140000. phenotype.
    142959. gene.
    176305. phenotype.
    neXtProti NX_P31271.
    Orphaneti 2957. Guttmacher syndrome.
    2438. Hand-foot-genital syndrome.
    PharmGKBi PA29379.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG276440.
    HOGENOMi HOG000231176.
    HOVERGENi HBG106958.
    InParanoidi P31271.
    KOi K09298.
    OMAi LMAHPAS.
    OrthoDBi EOG7SJD53.
    PhylomeDBi P31271.
    TreeFami TF330813.

    Enzyme and pathway databases

    SignaLinki P31271.

    Miscellaneous databases

    GeneWikii HOXA13.
    GenomeRNAii 3209.
    NextBioi 12770.
    PROi P31271.
    SOURCEi Search...

    Gene expression databases

    Bgeei P31271.
    CleanExi HS_HOXA13.
    Genevestigatori P31271.

    Family and domain databases

    Gene3Di 1.10.10.60. 1 hit.
    InterProi IPR017970. Homeobox_CS.
    IPR001356. Homeobox_dom.
    IPR009057. Homeodomain-like.
    IPR022067. HoxA13_N.
    [Graphical view ]
    Pfami PF00046. Homeobox. 1 hit.
    PF12284. HoxA13_N. 2 hits.
    [Graphical view ]
    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. "Mutation of HOXA13 in hand-foot-genital syndrome."
      Mortlock D.P., Innis J.W.
      Nat. Genet. 15:179-180(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    2. "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].
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "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].
    5. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 322-387.
    6. "Structural basis for sequence specific DNA binding and protein dimerization of HOXA13."
      Zhang Y., Larsen C.A., Stadler H.S., Ames J.B.
      PLoS ONE 6:E23069-E23069(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: STRUCTURE BY NMR OF 322-388 IN COMPLEX WITH DNA, SUBUNIT.
    7. Cited for: VARIANTS HFG HIS-372 AND ALA-ALA-ALA-ALA-ALA-ALA-ALA-ALA-129 INS.
    8. "A novel stable polyalanine [poly(A)] expansion in the HOXA13 gene associated with hand-foot-genital syndrome: proper function of poly(A)-harbouring transcription factors depends on a critical repeat length?"
      Utsch B., Becker K., Brock D., Lentze M.J., Bidlingmaier F., Ludwig M.
      Hum. Genet. 110:488-494(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HFG ALA-ALA-ALA-ALA-ALA-ALA-125 INS.
    9. "A HOXA13 allele with a missense mutation in the homeobox and a dinucleotide deletion in the promoter underlies Guttmacher syndrome."
      Innis J.W., Goodman F.R., Bacchelli C., Williams T.M., Mortlock D.P., Sateesh P., Scambler P.J., McKinnon W., Guttmacher A.E.
      Hum. Mutat. 19:573-574(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT GUTTS LEU-371.

    Entry informationi

    Entry nameiHXA13_HUMAN
    AccessioniPrimary (citable) accession number: P31271
    Secondary accession number(s): A4D188, O43371
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 1, 1993
    Last sequence update: October 17, 2006
    Last modified: October 1, 2014
    This is version 140 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

    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 7
      Human chromosome 7: 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