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Q64279

- HAND1_MOUSE

UniProt

Q64279 - HAND1_MOUSE

Protein

Heart- and neural crest derivatives-expressed protein 1

Gene

Hand1

Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 127 (01 Oct 2014)
      Sequence version 1 (01 Nov 1996)
      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).1 Publication

    GO - Molecular functioni

    1. bHLH transcription factor binding Source: BHF-UCL
    2. DNA binding Source: MGI
    3. enzyme binding Source: UniProtKB
    4. identical protein binding Source: IntAct
    5. protein binding Source: UniProtKB
    6. protein heterodimerization activity Source: MGI
    7. protein homodimerization activity Source: BHF-UCL
    8. sequence-specific DNA binding Source: MGI
    9. transcription coactivator activity Source: BHF-UCL
    10. transcription factor binding Source: MGI
    11. transcription regulatory region DNA binding Source: Ensembl

    GO - Biological processi

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

    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):
    Extraembryonic tissues, heart, autonomic nervous system and neural crest derivatives-expressed protein 1
    Short name:
    eHAND
    Helix-loop-helix transcription factor expressed in extraembryonic mesoderm and trophoblast
    Thing-1
    Short name:
    Th1
    Gene namesi
    Name:Hand1
    Synonyms:Ehand, Hxt, Thing1
    OrganismiMus musculus (Mouse)
    Taxonomic identifieri10090 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
    ProteomesiUP000000589: Chromosome 11

    Organism-specific databases

    MGIiMGI:103577. Hand1.

    Subcellular locationi

    Nucleusnucleoplasm 1 Publication. Nucleusnucleolus 1 Publication
    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.

    GO - Cellular componenti

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

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi107 – 1071T → A: Remains exclusively in the nucleolus; when associated with A-109. 1 Publication
    Mutagenesisi107 – 1071T → D: Adopts a nucleus-wide distribution; when associated with D-109. 1 Publication
    Mutagenesisi109 – 1091S → A: Remains exclusively in the nucleolus; when associated with A-107. 1 Publication
    Mutagenesisi109 – 1091S → D: Adopts a nucleus-wide distribution; when associated with D-107. 1 Publication

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 216216Heart- and neural crest derivatives-expressed protein 1PRO_0000127185Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei107 – 1071Phosphothreonine; by PLK41 Publication
    Modified residuei109 – 1091Phosphoserine; by PLK41 Publication

    Post-translational modificationi

    Phosphorylation by PLK4 disrupts the interaction with MDFIC and leads to tranlocation into the nucleoplasm, allowing dimerization and transcription factor activity.1 Publication

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    PRIDEiQ64279.

    PTM databases

    PhosphoSiteiQ64279.

    Expressioni

    Tissue specificityi

    Smooth muscle cells of the gut and adrenal tissue.

    Developmental stagei

    Present as a maternal transcript in the egg as well as during cleavage development before blastocyst formation. At 7.5 dpc, strongly expressed in all trophoblast cells. Expression seen in the ectoplacental cone and extraembryonic mesodermal components of the amnion, allantois and visceral yolk sac. This high extraembryonic expression persists in the embryonic component of the placenta throughout development. In the embryo, expressed at 7.75 dpc in the lateral mesoderm along the entire length of the embryo as well as throughout the precardiogenic mesoderm. At 8.0 dpc, in the developing heart, expression becomes restricted to the rostral and caudal regions of the straight heart tube, which are fated to form the conotruncus and left ventricle, respectively. Symmetric expression is observed along the left-right axis in the caudal heart tube and lateral mesoderm. As cardiac looping occurs, the interrupted anterior-posterior patterning is maintained with expression in the future left, but not right ventricle. Expressed in the myocardium, but not in the endocardium, and specifically on the greater curvature of the looping heart which is opposed to the pericardium. After day 10.5 dpc, the high cardiac expression level declines abruptly. By 13.5 dpc, expression in the heart is restricted to the regions of valve formation. Besides the heart, expression becomes detectable in the gut at 9.0 dpc. At 10.0 dpc, expressed also in the lateral mesoderm and in the neural crest-derived branchial arches. At 10.5 dpc prominent expression in the gut, pharyngeal arches and in sympathetic ganglion primordia. At that stage, a low level of transient expression is seen in the distal posterior region of the limb bud. By 13.5 dpc, the neural crest derivatives, especially the autonomic nervous system and adrenal medulla. Are the prominent sites of expression, with expression in the other sites still detectable.2 Publications

    Gene expression databases

    BgeeiQ64279.
    GenevestigatoriQ64279.

    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.2 Publications

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    itself2EBI-81361,EBI-81361
    Hand2Q610393EBI-81361,EBI-81388
    Tcf3P158062EBI-81361,EBI-81370

    Protein-protein interaction databases

    BioGridi200204. 7 interactions.
    DIPiDIP-455N.
    IntActiQ64279. 5 interactions.
    STRINGi10090.ENSMUSP00000046999.

    Structurei

    3D structure databases

    ProteinModelPortaliQ64279.
    SMRiQ64279. 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 biasi66 – 716Poly-Ala

    Sequence similaritiesi

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

    Phylogenomic databases

    eggNOGiNOG259520.
    GeneTreeiENSGT00730000110394.
    HOGENOMiHOG000232082.
    HOVERGENiHBG051880.
    InParanoidiQ64279.
    KOiK09071.
    OMAiAHPMLHE.
    OrthoDBiEOG7G1V82.
    PhylomeDBiQ64279.
    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.

    Q64279-1 [UniParc]FASTAAdd to Basket

    « Hide

    MNLVGSYAHH HHHHHSHPPH PMLHEPFLFG PASRCHQERP YFQSWLLSPA    50
    DAAPDFPAGG PPPTTAVAAA AYGPDARPSQ SPGRLEALGS RLPKRKGSGP 100
    KKERRRTESI NSAFAELREC IPNVPADTKL SKIKTLRLAT SYIAYLMDVL 150
    AKDAQAGDPE AFKAELKKTD GGRESKRKRE LPQQPESFPP ASGPGEKRIK 200
    GRTGWPQQVW ALELNQ 216
    Length:216
    Mass (Da):23,806
    Last modified:November 1, 1996 - v1
    Checksum:i307B14BB835833F1
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti6 – 61S → R in AAA86273. (PubMed:7671815)Curated
    Sequence conflicti19 – 191P → A in AAA86273. (PubMed:7671815)Curated
    Sequence conflicti131 – 1311S → P in AAA86273. (PubMed:7671815)Curated
    Sequence conflicti149 – 1491V → A in AAA86273. (PubMed:7671815)Curated
    Sequence conflicti164 – 1641A → V in AAA86273. (PubMed:7671815)Curated
    Sequence conflicti187 – 1871S → G in AAA86273. (PubMed:7671815)Curated
    Sequence conflicti208 – 2081Q → K in AAA86273. (PubMed:7671815)Curated

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U21226 mRNA. Translation: AAA86887.1.
    S79216 mRNA. Translation: AAB35104.1.
    U43714 mRNA. Translation: AAA86273.1.
    CCDSiCCDS24721.1.
    RefSeqiNP_032239.1. NM_008213.2.
    UniGeneiMm.4746.

    Genome annotation databases

    EnsembliENSMUST00000036917; ENSMUSP00000046999; ENSMUSG00000037335.
    ENSMUST00000160392; ENSMUSP00000124951; ENSMUSG00000037335.
    GeneIDi15110.
    KEGGimmu:15110.
    UCSCiuc007jaf.1. mouse.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U21226 mRNA. Translation: AAA86887.1 .
    S79216 mRNA. Translation: AAB35104.1 .
    U43714 mRNA. Translation: AAA86273.1 .
    CCDSi CCDS24721.1.
    RefSeqi NP_032239.1. NM_008213.2.
    UniGenei Mm.4746.

    3D structure databases

    ProteinModelPortali Q64279.
    SMRi Q64279. Positions 102-150.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 200204. 7 interactions.
    DIPi DIP-455N.
    IntActi Q64279. 5 interactions.
    STRINGi 10090.ENSMUSP00000046999.

    PTM databases

    PhosphoSitei Q64279.

    Proteomic databases

    PRIDEi Q64279.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENSMUST00000036917 ; ENSMUSP00000046999 ; ENSMUSG00000037335 .
    ENSMUST00000160392 ; ENSMUSP00000124951 ; ENSMUSG00000037335 .
    GeneIDi 15110.
    KEGGi mmu:15110.
    UCSCi uc007jaf.1. mouse.

    Organism-specific databases

    CTDi 9421.
    MGIi MGI:103577. Hand1.

    Phylogenomic databases

    eggNOGi NOG259520.
    GeneTreei ENSGT00730000110394.
    HOGENOMi HOG000232082.
    HOVERGENi HBG051880.
    InParanoidi Q64279.
    KOi K09071.
    OMAi AHPMLHE.
    OrthoDBi EOG7G1V82.
    PhylomeDBi Q64279.
    TreeFami TF315153.

    Miscellaneous databases

    NextBioi 287510.
    PROi Q64279.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q64279.
    Genevestigatori Q64279.

    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. "Identification of a new family of tissue-specific basic helix-loop-helix proteins with a two-hybrid system."
      Hollenberg S.M., Sternglanz R., Cheng P.F., Weintraub H.
      Mol. Cell. Biol. 15:3813-3822(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Strain: NIH Swiss.
      Tissue: Embryo.
    2. "Expression of the novel basic helix-loop-helix gene eHAND in neural crest derivatives and extraembryonic membranes during mouse development."
      Cserjesi P., Brown D., Lyons G.E., Olson E.N.
      Dev. Biol. 170:664-678(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], DEVELOPMENTAL STAGE.
      Tissue: Embryo.
    3. "Hxt encodes a basic helix-loop-helix transcription factor that regulates trophoblast cell development."
      Cross J.C., Flannery M.L., Blanar M.A., Steingrimsson E., Jenkins N.A., Copeland N.G., Rutter W.J., Werb Z.
      Development 121:2513-2523(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Strain: 129/Sv.
      Tissue: Embryoid bodies.
    4. "The Hand1 bHLH transcription factor is essential for placentation and cardiac morphogenesis."
      Riley P., Anson-Cartwright L., Cross J.C.
      Nat. Genet. 18:271-275(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, DEVELOPMENTAL STAGE.
    5. "The basic helix-loop-helix transcription factors dHAND and eHAND exhibit dimerization characteristics that suggest complex regulation of function."
      Firulli B.A., Hadzic D.B., McDaid J.R., Firulli A.B.
      J. Biol. Chem. 275:33567-33573(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBUNIT.
    6. Cited for: SUBCELLULAR LOCATION, INTERACTION WITH MDFIC, PHOSPHORYLATION AT THR-107 AND SER-109, MUTAGENESIS OF THR-107 AND SER-109.

    Entry informationi

    Entry nameiHAND1_MOUSE
    AccessioniPrimary (citable) accession number: Q64279
    Secondary accession number(s): Q61099
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: December 1, 2000
    Last sequence update: November 1, 1996
    Last modified: October 1, 2014
    This is version 127 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. MGD cross-references
      Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
    2. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3