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P28358

- HXD10_HUMAN

UniProt

P28358 - HXD10_HUMAN

Protein

Homeobox protein Hox-D10

Gene

HOXD10

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 137 (01 Oct 2014)
      Sequence version 2 (03 Apr 2007)
      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 bindingi266 – 32560HomeoboxPROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. chromatin binding Source: Ensembl
    2. sequence-specific DNA binding Source: InterPro
    3. sequence-specific DNA binding transcription factor activity Source: Ensembl

    GO - Biological processi

    1. adult locomotory behavior Source: Ensembl
    2. anterior/posterior pattern specification Source: Ensembl
    3. embryonic limb morphogenesis Source: Ensembl
    4. embryonic skeletal system morphogenesis Source: Ensembl
    5. forelimb morphogenesis Source: Ensembl
    6. hindlimb morphogenesis Source: Ensembl
    7. neuromuscular process Source: Ensembl
    8. peripheral nervous system neuron development Source: Ensembl
    9. positive regulation of transcription from RNA polymerase II promoter Source: Ensembl
    10. proximal/distal pattern formation Source: Ensembl
    11. skeletal muscle tissue development Source: Ensembl
    12. spinal cord motor neuron cell fate specification Source: Ensembl
    13. 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-D10
    Alternative name(s):
    Homeobox protein Hox-4D
    Homeobox protein Hox-4E
    Gene namesi
    Name:HOXD10
    Synonyms:HOX4D, HOX4E
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 2

    Organism-specific databases

    HGNCiHGNC:5133. HOXD10.

    Subcellular locationi

    GO - Cellular componenti

    1. nucleus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Vertical talus, congenital (CVT) [MIM:192950]: A rare malformation characterized by vertical orientation of the talus with a rigid dorsal dislocation of the navicular, equinus deformity of the calcaneus, abduction deformity of the forefoot, and contracture of the soft tissues of the hind- and mid-foot. This condition is usually associated with multiple other congenital deformities and only rarely is an isolated deformity with familial occurrence.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti319 – 3191M → K in CVT; also in Charcot-Marie-Tooth disease-like foot deformities. 1 Publication
    VAR_022582

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi142984. gene+phenotype.
    192950. phenotype.
    Orphaneti295203. Congenital vertical talus, bilateral.
    295201. Congenital vertical talus, unilateral.
    PharmGKBiPA29407.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 340340Homeobox protein Hox-D10PRO_0000200226Add
    BLAST

    Proteomic databases

    PaxDbiP28358.
    PRIDEiP28358.

    PTM databases

    PhosphoSiteiP28358.

    Expressioni

    Tissue specificityi

    Strongly expressed in the adult male and female urogenital tracts.

    Developmental stagei

    Expressed in the developing limb buds.

    Gene expression databases

    BgeeiP28358.
    CleanExiHS_HOXD10.
    GenevestigatoriP28358.

    Interactioni

    Protein-protein interaction databases

    BioGridi109476. 3 interactions.
    STRINGi9606.ENSP00000249501.

    Structurei

    3D structure databases

    ProteinModelPortaliP28358.
    SMRiP28358. Positions 267-325.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

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

    Keywords - Domaini

    Homeobox

    Phylogenomic databases

    eggNOGiNOG241114.
    HOGENOMiHOG000231182.
    HOVERGENiHBG052934.
    InParanoidiP28358.
    KOiK09295.
    OMAiNPRGSAK.
    OrthoDBiEOG7VDXPP.
    PhylomeDBiP28358.
    TreeFamiTF317819.

    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.

    P28358-1 [UniParc]FASTAAdd to Basket

    « Hide

    MSFPNSSPAA NTFLVDSLIS ACRSDSFYSS SASMYMPPPS ADMGTYGMQT    50
    CGLLPSLAKR EVNHQNMGMN VHPYIPQVDS WTDPNRSCRI EQPVTQQVPT 100
    CSFTTNIKEE SNCCMYSDKR NKLISAEVPS YQRLVPESCP VENPEVPVPG 150
    YFRLSQTYAT GKTQEYNNSP EGSSTVMLQL NPRGAAKPQL SAAQLQMEKK 200
    MNEPVSGQEP TKVSQVESPE AKGGLPEERS CLAEVSVSSP EVQEKESKEE 250
    IKSDTPTSNW LTAKSGRKKR CPYTKHQTLE LEKEFLFNMY LTRERRLEIS 300
    KSVNLTDRQV KIWFQNRRMK LKKMSRENRI RELTANLTFS 340
    Length:340
    Mass (Da):38,411
    Last modified:April 3, 2007 - v2
    Checksum:iFA6DB8C9DD97D7C9
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti150 – 1501G → R in CAA42017. (PubMed:1756725)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti319 – 3191M → K in CVT; also in Charcot-Marie-Tooth disease-like foot deformities. 1 Publication
    VAR_022582

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X59373 mRNA. Translation: CAA42017.1.
    BC069619 mRNA. Translation: AAH69619.1.
    BC074760 mRNA. Translation: AAH74760.1.
    CCDSiCCDS2266.1.
    PIRiA42008.
    S18650.
    RefSeqiNP_002139.2. NM_002148.3.
    UniGeneiHs.123070.

    Genome annotation databases

    EnsembliENST00000249501; ENSP00000249501; ENSG00000128710.
    GeneIDi3236.
    KEGGihsa:3236.
    UCSCiuc002ukj.3. human.

    Polymorphism databases

    DMDMi143811403.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    X59373 mRNA. Translation: CAA42017.1 .
    BC069619 mRNA. Translation: AAH69619.1 .
    BC074760 mRNA. Translation: AAH74760.1 .
    CCDSi CCDS2266.1.
    PIRi A42008.
    S18650.
    RefSeqi NP_002139.2. NM_002148.3.
    UniGenei Hs.123070.

    3D structure databases

    ProteinModelPortali P28358.
    SMRi P28358. Positions 267-325.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 109476. 3 interactions.
    STRINGi 9606.ENSP00000249501.

    PTM databases

    PhosphoSitei P28358.

    Polymorphism databases

    DMDMi 143811403.

    Proteomic databases

    PaxDbi P28358.
    PRIDEi P28358.

    Protocols and materials databases

    DNASUi 3236.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000249501 ; ENSP00000249501 ; ENSG00000128710 .
    GeneIDi 3236.
    KEGGi hsa:3236.
    UCSCi uc002ukj.3. human.

    Organism-specific databases

    CTDi 3236.
    GeneCardsi GC02P176973.
    HGNCi HGNC:5133. HOXD10.
    MIMi 142984. gene+phenotype.
    192950. phenotype.
    neXtProti NX_P28358.
    Orphaneti 295203. Congenital vertical talus, bilateral.
    295201. Congenital vertical talus, unilateral.
    PharmGKBi PA29407.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG241114.
    HOGENOMi HOG000231182.
    HOVERGENi HBG052934.
    InParanoidi P28358.
    KOi K09295.
    OMAi NPRGSAK.
    OrthoDBi EOG7VDXPP.
    PhylomeDBi P28358.
    TreeFami TF317819.

    Miscellaneous databases

    GeneWikii HOXD10.
    GenomeRNAii 3236.
    NextBioi 12879.
    PROi P28358.
    SOURCEi Search...

    Gene expression databases

    Bgeei P28358.
    CleanExi HS_HOXD10.
    Genevestigatori P28358.

    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. "HOX4 genes encode transcription factors with potential auto- and cross-regulatory capacities."
      Zappavigna V., Renucci A., Izpisua-Belmonte J.-C., Urier G., Peschle C., Duboule D.
      EMBO J. 10:4177-4187(1991) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Spinal cord.
    2. "Human HOX4E: a gene strongly expressed in the adult male and female urogenital tracts."
      Redline R.W., Williams A.J., Patterson P., Collins T.
      Genomics 13:425-430(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    3. "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: Colon.
    4. Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 266-331.
    5. "A HOX gene mutation in a family with isolated congenital vertical talus and Charcot-Marie-Tooth disease."
      Shrimpton A.E., Levinsohn E.M., Yozawitz J.M., Packard D.S. Jr., Cady R.B., Middleton F.A., Persico A.M., Hootnick D.R.
      Am. J. Hum. Genet. 75:92-96(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT CVT LYS-319.

    Entry informationi

    Entry nameiHXD10_HUMAN
    AccessioniPrimary (citable) accession number: P28358
    Secondary accession number(s): Q6NT10
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: December 1, 1992
    Last sequence update: April 3, 2007
    Last modified: October 1, 2014
    This is version 137 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. 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