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Gene Ontology Classifications
heart and neural crest derivatives expressed transcript 1

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GO curators for mouse genes have assigned the following annotations to the gene product of Hand1. (This text reflects annotations as of Tuesday, May 26, 2015.)
Summary from NCBI RefSeq

[Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the basic helix-loop-helix family of transcription factors. This gene product is one of two closely related family members, the HAND proteins, which are asymmetrically expressed in the developing ventricular chambers and play an essential role in cardiac morphogenesis. Working in a complementary fashion, they function in the formation of the right ventricle and aortic arch arteries, implicating them as mediators of congenital heart disease. In addition, it has been suggested that this transcription factor may be required for early trophoblast differentiation. [provided by RefSeq, Jul 2008]
Summary text based on GO annotations supported by experimental evidence in mouse
Summary text based on GO annotations supported by experimental evidence in other organisms
Summary text based on GO annotations supported by structural data
Summary text for additional MGI annotations
  1. Barbosa AC et al. (2007) Hand transcription factors cooperatively regulate development of the distal midline mesenchyme. Dev Biol, 310:154-68. (PubMed:17764670)
  2. Firulli AB et al. (1998) Heart and extra-embryonic mesodermal defects in mouse embryos lacking the bHLH transcription factor Hand1. Nat Genet, 18:266-70. (PubMed:9500550)
  3. Firulli BA et al. (2000) The basic helix-loop-helix transcription factors dHAND and eHAND exhibit dimerization characteristics that suggest complex regulation of function. J Biol Chem, 275:33567-73. (PubMed:10924525)
  4. Funato N et al. (2009) Hand2 controls osteoblast differentiation in the branchial arch by inhibiting DNA binding of Runx2. Development, 136:615-25. (PubMed:19144722)
  5. Hill AA et al. (2004) Differential regulation of Hand1 homodimer and Hand1-E12 heterodimer activity by the cofactor FHL2. Mol Cell Biol, 24:9835-47. (PubMed:15509787)
  6. Hu D et al. (2013) The basic helix-loop-helix transcription factor Hand1 regulates mouse development as a homodimer. Dev Biol, 382:470-81. (PubMed:23911935)
  7. Martindill DM et al. (2007) Nucleolar release of Hand1 acts as a molecular switch to determine cell fate. Nat Cell Biol, 9:1131-41. (PubMed:17891141)
  8. McFadden DG et al. (2002) Misexpression of dHAND induces ectopic digits in the developing limb bud in the absence of direct DNA binding. Development, 129:3077-88. (PubMed:12070084)
  9. McFadden DG et al. (2005) The Hand1 and Hand2 transcription factors regulate expansion of the embryonic cardiac ventricles in a gene dosage-dependent manner. Development, 132:189-201. (PubMed:15576406)
  10. Morikawa Y et al. (2004) Extra-embryonic vasculature development is regulated by the transcription factor HAND1. Development, 131:2195-204. (PubMed:15073150)
  11. Oude Elferink RP et al. (1995) Regulation of biliary lipid secretion by mdr2 P-glycoprotein in the mouse. J Clin Invest, 95:31-8. (PubMed:7814632)
  12. Riley P et al. (1998) The Hand1 bHLH transcription factor is essential for placentation and cardiac morphogenesis. Nat Genet, 18:271-5. (PubMed:9500551)
  13. Riley PR et al. (2000) Early exclusion of Hand1-deficient cells from distinct regions of the left ventricular myocardium in chimeric mouse embryos Dev Biol, 227:156-68. (PubMed:11076684)
  14. Yamada K et al. (2006) Sox15 enhances trophoblast giant cell differentiation induced by Hand1 in mouse placenta. Differentiation, 74:212-21. (PubMed:16759287)

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Gene Ontology Evidence Code Abbreviations:

  EXP Inferred from experiment
  IAS Inferred from ancestral sequence
  IBA Inferred from biological aspect of ancestor
  IBD Inferred from biological aspect of descendant
  IC Inferred by curator
  IDA Inferred from direct assay
  IEA Inferred from electronic annotation
  IGI Inferred from genetic interaction
  IKR Inferred from key residues
  IMP Inferred from mutant phenotype
  IMR Inferred from missing residues
  IPI Inferred from physical interaction
  IRD Inferred from rapid divergence
  ISS Inferred from sequence or structural similarity
  ISO Inferred from sequence orthology
  ISA Inferred from sequence alignment
  ISM Inferred from sequence model
  NAS Non-traceable author statement
  ND No biological data available
  RCA Reviewed computational analysis
  TAS Traceable author statement


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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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