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O96004

- HAND1_HUMAN

UniProt

O96004 - HAND1_HUMAN

Protein

Heart- and neural crest derivatives-expressed protein 1

Gene

HAND1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 123 (01 Oct 2014)
      Sequence version 1 (01 May 1999)
      Previous versions | rss
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    Functioni

    Transcription factor that plays an essential role in both trophoblast-giant cells differentiation and in cardiac morphogenesis. In the adult, could be required for ongoing expression of cardiac-specific genes. Binds the DNA sequence 5'-NRTCTG-3' (non-canonical E-box) By similarity.By similarity

    GO - Molecular functioni

    1. bHLH transcription factor binding Source: BHF-UCL
    2. identical protein binding Source: BHF-UCL
    3. protein binding Source: BHF-UCL
    4. protein homodimerization activity Source: BHF-UCL
    5. sequence-specific DNA binding Source: Ensembl
    6. transcription coactivator activity Source: BHF-UCL
    7. transcription factor binding Source: BHF-UCL

    GO - Biological processi

    1. angiogenesis Source: BHF-UCL
    2. blastocyst development Source: BHF-UCL
    3. cardiac left ventricle formation Source: BHF-UCL
    4. cardiac right ventricle formation Source: BHF-UCL
    5. cardiac septum morphogenesis Source: BHF-UCL
    6. cartilage morphogenesis Source: Ensembl
    7. embryonic heart tube development Source: BHF-UCL
    8. embryonic heart tube formation Source: Ensembl
    9. heart development Source: BHF-UCL
    10. heart looping Source: BHF-UCL
    11. mesenchyme development Source: Ensembl
    12. mesoderm formation Source: Ensembl
    13. negative regulation of sequence-specific DNA binding transcription factor activity Source: Ensembl
    14. negative regulation of transcription, DNA-templated Source: BHF-UCL
    15. negative regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
    16. odontogenesis of dentin-containing tooth Source: Ensembl
    17. positive regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
    18. transcription from RNA polymerase II promoter Source: BHF-UCL
    19. trophectodermal cell differentiation Source: BHF-UCL
    20. trophoblast giant cell differentiation Source: Ensembl
    21. ventricular cardiac muscle tissue morphogenesis Source: BHF-UCL

    Keywords - Molecular functioni

    Activator, Developmental protein

    Keywords - Biological processi

    Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Heart- and neural crest derivatives-expressed protein 1
    Alternative name(s):
    Class A basic helix-loop-helix protein 27
    Short name:
    bHLHa27
    Extraembryonic tissues, heart, autonomic nervous system and neural crest derivatives-expressed protein 1
    Short name:
    eHAND
    Gene namesi
    Name:HAND1
    Synonyms:BHLHA27, EHAND
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 5

    Organism-specific databases

    HGNCiHGNC:4807. HAND1.

    Subcellular locationi

    Nucleusnucleoplasm By similarity. Nucleusnucleolus By similarity
    Note: Interaction with MDFIC sequesters it into the nucleolus, preventing the transcription factor activity. Phosphorylation by PLK4 disrupts the interaction with MDFIC and releases it from the nucleolus, leading to transcription factor activity By similarity.By similarity

    GO - Cellular componenti

    1. cytoplasm Source: BHF-UCL
    2. nucleolus Source: UniProtKB-SubCell
    3. nucleoplasm Source: UniProtKB-SubCell
    4. nucleus Source: BHF-UCL

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA29183.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 215215Heart- and neural crest derivatives-expressed protein 1PRO_0000127184Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei107 – 1071Phosphothreonine; by PLK4By similarity
    Modified residuei109 – 1091Phosphoserine; by PLK4By similarity

    Post-translational modificationi

    Phosphorylation by PLK4 disrupts the interaction with MDFIC and leads to tranlocation into the nucleoplasm, allowing dimerization and transcription factor activity.By similarity

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    PaxDbiO96004.
    PRIDEiO96004.

    PTM databases

    PhosphoSiteiO96004.

    Expressioni

    Tissue specificityi

    Heart.

    Gene expression databases

    BgeeiO96004.
    CleanExiHS_HAND1.
    GenevestigatoriO96004.

    Organism-specific databases

    HPAiHPA040925.

    Interactioni

    Subunit structurei

    Efficient DNA binding requires dimerization with another bHLH protein. Forms homodimers and heterodimers with TCF3 gene products E12 and E47, HAND2 and HEY1, HEY2 and HEYL (hairy-related transcription factors). Interacts with MDFIC By similarity.By similarity

    Protein-protein interaction databases

    BioGridi114814. 6 interactions.
    STRINGi9606.ENSP00000231121.

    Structurei

    3D structure databases

    ProteinModelPortaliO96004.
    SMRiO96004. Positions 102-150.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini94 – 14653bHLHPROSITE-ProRule annotationAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi9 – 179Poly-His
    Compositional biasi64 – 718Poly-Ala

    Sequence similaritiesi

    Contains 1 bHLH (basic helix-loop-helix) domain.PROSITE-ProRule annotation

    Phylogenomic databases

    eggNOGiNOG259520.
    HOGENOMiHOG000232082.
    HOVERGENiHBG051880.
    InParanoidiO96004.
    KOiK09071.
    OMAiAHPMLHE.
    OrthoDBiEOG7G1V82.
    PhylomeDBiO96004.
    TreeFamiTF315153.

    Family and domain databases

    Gene3Di4.10.280.10. 1 hit.
    InterProiIPR011598. bHLH_dom.
    [Graphical view]
    PfamiPF00010. HLH. 1 hit.
    [Graphical view]
    SMARTiSM00353. HLH. 1 hit.
    [Graphical view]
    SUPFAMiSSF47459. SSF47459. 1 hit.
    PROSITEiPS50888. BHLH. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    O96004-1 [UniParc]FASTAAdd to Basket

    « Hide

    MNLVGSYAHH HHHHHPHPAH PMLHEPFLFG PASRCHQERP YFQSWLLSPA    50
    DAAPDFPAGG PPPAAAAAAT AYGPDARPGQ SPGRLEALGG RLGRRKGSGP 100
    KKERRRTESI NSAFAELREC IPNVPADTKL SKIKTLRLAT SYIAYLMDVL 150
    AKDAQSGDPE AFKAELKKAD GGRESKRKRE LQQHEGFPPA LGPVEKRIKG 200
    RTGWPQQVWA LELNQ 215
    Length:215
    Mass (Da):23,627
    Last modified:May 1, 1999 - v1
    Checksum:i7ED98EA081A8D6BA
    GO

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF063012 Genomic DNA. Translation: AAD19283.1.
    AF061756 mRNA. Translation: AAD19280.1.
    BC021190 mRNA. Translation: AAH21190.1.
    CCDSiCCDS4327.1.
    RefSeqiNP_004812.1. NM_004821.2.
    UniGeneiHs.152531.

    Genome annotation databases

    EnsembliENST00000231121; ENSP00000231121; ENSG00000113196.
    GeneIDi9421.
    KEGGihsa:9421.
    UCSCiuc003lvn.3. human.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF063012 Genomic DNA. Translation: AAD19283.1 .
    AF061756 mRNA. Translation: AAD19280.1 .
    BC021190 mRNA. Translation: AAH21190.1 .
    CCDSi CCDS4327.1.
    RefSeqi NP_004812.1. NM_004821.2.
    UniGenei Hs.152531.

    3D structure databases

    ProteinModelPortali O96004.
    SMRi O96004. Positions 102-150.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 114814. 6 interactions.
    STRINGi 9606.ENSP00000231121.

    PTM databases

    PhosphoSitei O96004.

    Proteomic databases

    PaxDbi O96004.
    PRIDEi O96004.

    Protocols and materials databases

    DNASUi 9421.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000231121 ; ENSP00000231121 ; ENSG00000113196 .
    GeneIDi 9421.
    KEGGi hsa:9421.
    UCSCi uc003lvn.3. human.

    Organism-specific databases

    CTDi 9421.
    GeneCardsi GC05M153834.
    HGNCi HGNC:4807. HAND1.
    HPAi HPA040925.
    MIMi 602406. gene.
    neXtProti NX_O96004.
    PharmGKBi PA29183.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG259520.
    HOGENOMi HOG000232082.
    HOVERGENi HBG051880.
    InParanoidi O96004.
    KOi K09071.
    OMAi AHPMLHE.
    OrthoDBi EOG7G1V82.
    PhylomeDBi O96004.
    TreeFami TF315153.

    Miscellaneous databases

    GeneWikii HAND1.
    GenomeRNAii 9421.
    NextBioi 35290.
    PROi O96004.
    SOURCEi Search...

    Gene expression databases

    Bgeei O96004.
    CleanExi HS_HAND1.
    Genevestigatori O96004.

    Family and domain databases

    Gene3Di 4.10.280.10. 1 hit.
    InterProi IPR011598. bHLH_dom.
    [Graphical view ]
    Pfami PF00010. HLH. 1 hit.
    [Graphical view ]
    SMARTi SM00353. HLH. 1 hit.
    [Graphical view ]
    SUPFAMi SSF47459. SSF47459. 1 hit.
    PROSITEi PS50888. BHLH. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Molecular cloning of the human Hand1 gene/cDNA and its tissue-restricted expression in cytotrophoblastic cells and heart."
      Knoefler M., Meinhardt G., Vasicek R., Husslein P., Egarter C.
      Gene 224:77-86(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA].
      Tissue: Heart.
    2. "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: Brain.

    Entry informationi

    Entry nameiHAND1_HUMAN
    AccessioniPrimary (citable) accession number: O96004
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: December 1, 2000
    Last sequence update: May 1, 1999
    Last modified: October 1, 2014
    This is version 123 of the entry and version 1 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. Human chromosome 5
      Human chromosome 5: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3