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P13378

- HXD8_HUMAN

UniProt

P13378 - HXD8_HUMAN

Protein

Homeobox protein Hox-D8

Gene

HOXD8

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 142 (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 bindingi197 – 25660HomeoboxPROSITE-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. anterior/posterior axis specification, embryo Source: UniProtKB
    2. negative regulation of transcription from RNA polymerase II promoter Source: Ensembl
    3. 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-D8
    Alternative name(s):
    Homeobox protein Hox-4E
    Homeobox protein Hox-5.4
    Gene namesi
    Name:HOXD8
    Synonyms:HOX4E
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 2

    Organism-specific databases

    HGNCiHGNC:5139. HOXD8.

    Subcellular locationi

    GO - Cellular componenti

    1. nucleus Source: UniProtKB

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA29413.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 290290Homeobox protein Hox-D8PRO_0000200216Add
    BLAST

    Proteomic databases

    PaxDbiP13378.
    PRIDEiP13378.

    PTM databases

    PhosphoSiteiP13378.

    Expressioni

    Gene expression databases

    ArrayExpressiP13378.
    BgeeiP13378.
    CleanExiHS_HOXD8.
    GenevestigatoriP13378.

    Interactioni

    Protein-protein interaction databases

    BioGridi109474. 6 interactions.
    IntActiP13378. 5 interactions.
    MINTiMINT-7032137.
    STRINGi9606.ENSP00000315949.

    Structurei

    3D structure databases

    ProteinModelPortaliP13378.
    SMRiP13378. Positions 201-256.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi15 – 239Poly-Ala
    Compositional biasi45 – 506Poly-Ala
    Compositional biasi109 – 12315Poly-ProAdd
    BLAST

    Sequence similaritiesi

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

    Keywords - Domaini

    Homeobox

    Phylogenomic databases

    eggNOGiNOG314669.
    HOGENOMiHOG000231181.
    HOVERGENiHBG016849.
    InParanoidiP13378.
    KOiK09308.
    OMAiGQEYFHP.
    OrthoDBiEOG780RP4.
    PhylomeDBiP13378.
    TreeFamiTF316310.

    Family and domain databases

    Gene3Di1.10.10.60. 1 hit.
    InterProiIPR001827. Homeobox_Antennapedia_CS.
    IPR017970. 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.
    PROSITEiPS00032. ANTENNAPEDIA. 1 hit.
    PS00027. HOMEOBOX_1. 1 hit.
    PS50071. HOMEOBOX_2. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: P13378-1) [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

    MSSYFVNPLY SKYKAAAAAA AAAGEAINPT YYDCHFAPEV GGRHAAAAAA    50
    LQLYGNSAAG FPHAPPQAHA HPHPSPPPSG TGCGGREGRG QEYFHPGGGS 100
    PAAAYQAAPP PPPHPPPPPP PPPCGGIACH GEPAKFYGYD NLQRQPIFTT 150
    QQEAELVQYP DCKSSSGNIG EDPDHLNQSS SPSQMFPWMR PQAAPGRRRG 200
    RQTYSRFQTL ELEKEFLFNP YLTRKRRIEV SHALALTERQ VKIWFQNRRM 250
    KWKKENNKDK FPVSRQEVKD GETKKEAQEL EEDRAEGLTN 290
    Length:290
    Mass (Da):31,911
    Last modified:February 21, 2001 - v2
    Checksum:i75FF95A73E2AA85F
    GO
    Isoform 2 (identifier: P13378-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         193-193: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:289
    Mass (Da):31,840
    Checksum:i4C2621085174B447
    GO
    Isoform 3 (identifier: P13378-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-184: Missing.
         252-290: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:67
    Mass (Da):8,354
    Checksum:iBBA9151D54C57E6D
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti39 – 391E → G in AAH90853. (PubMed:15489334)Curated
    Sequence conflicti287 – 2871G → A in CAA33529. (PubMed:2568311)Curated

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 184184Missing in isoform 3. 1 PublicationVSP_045862Add
    BLAST
    Alternative sequencei193 – 1931Missing in isoform 2. 1 PublicationVSP_042856
    Alternative sequencei252 – 29039Missing in isoform 3. 1 PublicationVSP_045863Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY014304, AY014303 Genomic DNA. Translation: AAG42152.1.
    AL520835 mRNA. No translation available.
    AC009336 Genomic DNA. No translation available.
    BC038709 mRNA. Translation: AAH38709.1.
    BC090853 mRNA. Translation: AAH90853.1.
    X15507 Genomic DNA. Translation: CAA33529.1.
    CCDSiCCDS2268.1. [P13378-1]
    CCDS56148.1. [P13378-2]
    PIRiB32830.
    RefSeqiNP_001186675.1. NM_001199746.1. [P13378-2]
    NP_062458.1. NM_019558.3. [P13378-1]
    UniGeneiHs.301963.
    Hs.700870.

    Genome annotation databases

    EnsembliENST00000313173; ENSP00000315949; ENSG00000175879. [P13378-1]
    ENST00000450510; ENSP00000409026; ENSG00000175879. [P13378-2]
    ENST00000544999; ENSP00000437431; ENSG00000175879. [P13378-2]
    GeneIDi3234.
    KEGGihsa:3234.
    UCSCiuc002uko.3. human. [P13378-1]
    uc002ukp.3. human. [P13378-2]

    Polymorphism databases

    DMDMi13124737.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY014304 , AY014303 Genomic DNA. Translation: AAG42152.1 .
    AL520835 mRNA. No translation available.
    AC009336 Genomic DNA. No translation available.
    BC038709 mRNA. Translation: AAH38709.1 .
    BC090853 mRNA. Translation: AAH90853.1 .
    X15507 Genomic DNA. Translation: CAA33529.1 .
    CCDSi CCDS2268.1. [P13378-1 ]
    CCDS56148.1. [P13378-2 ]
    PIRi B32830.
    RefSeqi NP_001186675.1. NM_001199746.1. [P13378-2 ]
    NP_062458.1. NM_019558.3. [P13378-1 ]
    UniGenei Hs.301963.
    Hs.700870.

    3D structure databases

    ProteinModelPortali P13378.
    SMRi P13378. Positions 201-256.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 109474. 6 interactions.
    IntActi P13378. 5 interactions.
    MINTi MINT-7032137.
    STRINGi 9606.ENSP00000315949.

    PTM databases

    PhosphoSitei P13378.

    Polymorphism databases

    DMDMi 13124737.

    Proteomic databases

    PaxDbi P13378.
    PRIDEi P13378.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000313173 ; ENSP00000315949 ; ENSG00000175879 . [P13378-1 ]
    ENST00000450510 ; ENSP00000409026 ; ENSG00000175879 . [P13378-2 ]
    ENST00000544999 ; ENSP00000437431 ; ENSG00000175879 . [P13378-2 ]
    GeneIDi 3234.
    KEGGi hsa:3234.
    UCSCi uc002uko.3. human. [P13378-1 ]
    uc002ukp.3. human. [P13378-2 ]

    Organism-specific databases

    CTDi 3234.
    GeneCardsi GC02P176994.
    HGNCi HGNC:5139. HOXD8.
    MIMi 142985. gene.
    neXtProti NX_P13378.
    PharmGKBi PA29413.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG314669.
    HOGENOMi HOG000231181.
    HOVERGENi HBG016849.
    InParanoidi P13378.
    KOi K09308.
    OMAi GQEYFHP.
    OrthoDBi EOG780RP4.
    PhylomeDBi P13378.
    TreeFami TF316310.

    Miscellaneous databases

    GeneWikii HOXD8.
    GenomeRNAii 3234.
    NextBioi 12869.
    PROi P13378.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P13378.
    Bgeei P13378.
    CleanExi HS_HOXD8.
    Genevestigatori P13378.

    Family and domain databases

    Gene3Di 1.10.10.60. 1 hit.
    InterProi 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 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 [GENOMIC DNA].
    2. "Full-length cDNA libraries and normalization."
      Li W.B., Gruber C., Jessee J., Polayes D.
      Submitted (APR-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
      Tissue: Neuroblastoma.
    3. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
      Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
      , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
      Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "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] (ISOFORM 2).
      Tissue: Kidney and PNS.
    5. "Complementary homeo protein gradients in developing limb buds."
      Oliver G., Sidell N., Fiske N., Heinzmann C., Mohandas T., Sparkes R.S., De Robertis E.M.
      Genes Dev. 3:641-650(1989) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 193-287.

    Entry informationi

    Entry nameiHXD8_HUMAN
    AccessioniPrimary (citable) accession number: P13378
    Secondary accession number(s): F8WBG7, Q5BL00, Q8IXZ1
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 1, 1990
    Last sequence update: February 21, 2001
    Last modified: October 1, 2014
    This is version 142 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 2
      Human chromosome 2: 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