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Q00056

- HXA4_HUMAN

UniProt

Q00056 - HXA4_HUMAN

Protein

Homeobox protein Hox-A4

Gene

HOXA4

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 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 transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Binds to sites in the 5'-flanking sequence of its coding region with various affinities. The consensus sequences of the high and low affinity binding sites are 5'-TAATGA[CG]-3' and 5'-CTAATTTT-3'.

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    DNA bindingi215 – 27460HomeoboxPROSITE-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. embryonic skeletal system morphogenesis Source: Ensembl
    4. 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-A4
    Alternative name(s):
    Homeobox protein Hox-1.4
    Homeobox protein Hox-1D
    Gene namesi
    Name:HOXA4
    Synonyms:HOX1D
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 7

    Organism-specific databases

    HGNCiHGNC:5105. HOXA4.

    Subcellular locationi

    GO - Cellular componenti

    1. nucleus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA29382.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 320320Homeobox protein Hox-A4PRO_0000200048Add
    BLAST

    Proteomic databases

    PaxDbiQ00056.
    PeptideAtlasiQ00056.
    PRIDEiQ00056.

    PTM databases

    PhosphoSiteiQ00056.

    Expressioni

    Tissue specificityi

    Embryonic nervous system.

    Gene expression databases

    BgeeiQ00056.
    CleanExiHS_HOXA4.
    GenevestigatoriQ00056.

    Organism-specific databases

    HPAiHPA060088.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000353151.

    Structurei

    3D structure databases

    ProteinModelPortaliQ00056.
    SMRiQ00056. Positions 222-275.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi194 – 1996Antp-type hexapeptide

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi15 – 192178Pro-rich (part of the transcriptional activation domain)Add
    BLAST

    Sequence similaritiesi

    Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Homeobox

    Phylogenomic databases

    eggNOGiNOG257177.
    HOGENOMiHOG000231179.
    HOVERGENiHBG016849.
    InParanoidiQ00056.
    KOiK09304.
    OMAiEPTASYY.
    OrthoDBiEOG780RP4.
    PhylomeDBiQ00056.
    TreeFamiTF352857.

    Family and domain databases

    Gene3Di1.10.10.60. 1 hit.
    InterProiIPR017995. Homeobox_antennapedia.
    IPR001827. Homeobox_Antennapedia_CS.
    IPR017970. Homeobox_CS.
    IPR001356. Homeobox_dom.
    IPR020479. Homeobox_metazoa.
    IPR009057. Homeodomain-like.
    [Graphical view]
    PfamiPF00046. Homeobox. 1 hit.
    [Graphical view]
    PRINTSiPR00025. ANTENNAPEDIA.
    PR00024. 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.

    Q00056-1 [UniParc]FASTAAdd to Basket

    « Hide

    MTMSSFLINS NYIEPKFPPF EEYAQHSGSG GADGGPGGGP GYQQPPAPPT    50
    QHLPLQQPQL PHAGGGREPT ASYYAPRTAR EPAYPAAALY PAHGAADTAY 100
    PYGYRGGASP GRPPQPEQPP AQAKGPAHGL HASHVLQPQL PPPLQPRAVP 150
    PAAPRRCEAA PATPGVPAGG SAPACPLLLA DKSPLGLKGK EPVVYPWMKK 200
    IHVSAVNPSY NGGEPKRSRT AYTRQQVLEL EKEFHFNRYL TRRRRIEIAH 250
    TLCLSERQVK IWFQNRRMKW KKDHKLPNTK MRSSNSASAS AGPPGKAQTQ 300
    SPHLHPHPHP STSTPVPSSI 320
    Length:320
    Mass (Da):34,499
    Last modified:October 17, 2006 - v3
    Checksum:iD9B9C98901B06FE4
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti108 – 1081A → P in AAA58664. (PubMed:1675427)Curated
    Sequence conflicti205 – 2051A → S in AAA53290. (PubMed:2571574)Curated
    Sequence conflicti275 – 2762KL → NC in AAA53290. (PubMed:2571574)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti37 – 371G → D in a breast cancer sample; somatic mutation. 1 Publication
    VAR_036266
    Natural varianti70 – 701T → P.1 Publication
    Corresponds to variant rs6944345 [ dbSNP | Ensembl ].
    VAR_028414
    Natural varianti140 – 1401L → P.1 Publication
    Corresponds to variant rs10251056 [ dbSNP | Ensembl ].
    VAR_028415
    Natural varianti178 – 1781L → F.
    Corresponds to variant rs13246088 [ dbSNP | Ensembl ].
    VAR_028416
    Natural varianti251 – 2511T → P.
    Corresponds to variant rs6976847 [ dbSNP | Ensembl ].
    VAR_028417
    Natural varianti317 – 3171P → S.
    Corresponds to variant rs17500757 [ dbSNP | Ensembl ].
    VAR_028418

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M74297 mRNA. Translation: AAA58664.1.
    AC004080 Genomic DNA. No translation available.
    CH471073 Genomic DNA. Translation: EAW93872.1.
    CH236948 Genomic DNA. Translation: EAL24224.1.
    M28199 Genomic DNA. Translation: AAA53290.1.
    CCDSiCCDS5405.1.
    PIRiA39724.
    RefSeqiNP_002132.3. NM_002141.4.
    UniGeneiHs.533357.
    Hs.721126.

    Genome annotation databases

    EnsembliENST00000360046; ENSP00000353151; ENSG00000197576.
    ENST00000428284; ENSP00000408845; ENSG00000197576.
    GeneIDi3201.
    KEGGihsa:3201.
    UCSCiuc003sym.4. human.

    Polymorphism databases

    DMDMi116242514.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M74297 mRNA. Translation: AAA58664.1 .
    AC004080 Genomic DNA. No translation available.
    CH471073 Genomic DNA. Translation: EAW93872.1 .
    CH236948 Genomic DNA. Translation: EAL24224.1 .
    M28199 Genomic DNA. Translation: AAA53290.1 .
    CCDSi CCDS5405.1.
    PIRi A39724.
    RefSeqi NP_002132.3. NM_002141.4.
    UniGenei Hs.533357.
    Hs.721126.

    3D structure databases

    ProteinModelPortali Q00056.
    SMRi Q00056. Positions 222-275.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000353151.

    PTM databases

    PhosphoSitei Q00056.

    Polymorphism databases

    DMDMi 116242514.

    Proteomic databases

    PaxDbi Q00056.
    PeptideAtlasi Q00056.
    PRIDEi Q00056.

    Protocols and materials databases

    DNASUi 3201.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000360046 ; ENSP00000353151 ; ENSG00000197576 .
    ENST00000428284 ; ENSP00000408845 ; ENSG00000197576 .
    GeneIDi 3201.
    KEGGi hsa:3201.
    UCSCi uc003sym.4. human.

    Organism-specific databases

    CTDi 3201.
    GeneCardsi GC07M027170.
    HGNCi HGNC:5105. HOXA4.
    HPAi HPA060088.
    MIMi 142953. gene.
    neXtProti NX_Q00056.
    PharmGKBi PA29382.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG257177.
    HOGENOMi HOG000231179.
    HOVERGENi HBG016849.
    InParanoidi Q00056.
    KOi K09304.
    OMAi EPTASYY.
    OrthoDBi EOG780RP4.
    PhylomeDBi Q00056.
    TreeFami TF352857.

    Miscellaneous databases

    GeneWikii HOXA4.
    GenomeRNAii 3201.
    NextBioi 12736.
    PROi Q00056.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q00056.
    CleanExi HS_HOXA4.
    Genevestigatori Q00056.

    Family and domain databases

    Gene3Di 1.10.10.60. 1 hit.
    InterProi IPR017995. Homeobox_antennapedia.
    IPR001827. Homeobox_Antennapedia_CS.
    IPR017970. Homeobox_CS.
    IPR001356. Homeobox_dom.
    IPR020479. Homeobox_metazoa.
    IPR009057. Homeodomain-like.
    [Graphical view ]
    Pfami PF00046. Homeobox. 1 hit.
    [Graphical view ]
    PRINTSi PR00025. ANTENNAPEDIA.
    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. "Alteration of homeobox gene expression by N-ras transformation of PA-1 human teratocarcinoma cells."
      Buettner R., Yim S.O., Hong Y.S., Boncinelli E., Tainsky M.A.
      Mol. Cell. Biol. 11:3573-3583(1991) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS PRO-70 AND PRO-140.
    2. Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    3. "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].
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "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].
    6. "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 215-280.
    7. "Isolation, chromosomal localization, and nucleotide sequence of the human HOX 1.4 homeobox."
      Ferguson-Smith A.C., Fienberg A., Ruddle F.H.
      Genomics 5:250-258(1989) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 205-277.
    8. Cited for: VARIANT [LARGE SCALE ANALYSIS] ASP-37.

    Entry informationi

    Entry nameiHXA4_HUMAN
    AccessioniPrimary (citable) accession number: Q00056
    Secondary accession number(s): A4D180, O43366
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: December 1, 1992
    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

    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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3