Mus musculus Protein: Hand1
Summary
InnateDB Protein IDBP-540189.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Hand1
Protein Name heart and neural crest derivatives expressed transcript 1
Synonyms bHLHa27; eHAND; Ehand1; Hxt; Th1; Thing1;
Species Mus musculus
Ensembl Protein ENSMUSP00000124951
InnateDB Gene IDBG-175912 (Hand1)
Protein Structure
UniProt Annotation
Function 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). {ECO:0000269PubMed:9500551}.
Subcellular Localization Nucleus, nucleoplasm {ECO:0000269PubMed:17891141}. Nucleus, nucleolus {ECO:0000269PubMed:17891141}. 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.
Disease Associations
Tissue Specificity Smooth muscle cells of the gut and adrenal tissue.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 14 experimentally validated interaction(s) in this database.
They are also associated with 6 interaction(s) predicted by orthology.
Experimentally validated
Total 14 [view]
Protein-Protein 14 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 6 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003677 DNA binding
GO:0003713 transcription coactivator activity
GO:0005515 protein binding
GO:0008134 transcription factor binding
GO:0019899 enzyme binding
GO:0042802 identical protein binding
GO:0042803 protein homodimerization activity
GO:0043425 bHLH transcription factor binding
GO:0043565 sequence-specific DNA binding
GO:0044212 transcription regulatory region DNA binding
GO:0046982 protein heterodimerization activity
GO:0046983 protein dimerization activity
Biological Process
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0001525 angiogenesis
GO:0001701 in utero embryonic development
GO:0001707 mesoderm formation
GO:0001709 cell fate determination
GO:0001829 trophectodermal cell differentiation
GO:0001947 heart looping
GO:0003007 heart morphogenesis
GO:0003144 embryonic heart tube formation
GO:0003218 cardiac left ventricle formation
GO:0003219 cardiac right ventricle formation
GO:0006366 transcription from RNA polymerase II promoter
GO:0007507 heart development
GO:0030154 cell differentiation
GO:0035050 embryonic heart tube development
GO:0042475 odontogenesis of dentin-containing tooth
GO:0043433 negative regulation of sequence-specific DNA binding transcription factor activity
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0055010 ventricular cardiac muscle tissue morphogenesis
GO:0060411 cardiac septum morphogenesis
GO:0060485 mesenchyme development
GO:0060536 cartilage morphogenesis
GO:0060707 trophoblast giant cell differentiation
GO:0061371 determination of heart left/right asymmetry
Cellular Component
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005730 nucleolus
GO:0005737 cytoplasm
Protein Structure and Domains
PDB ID MGI:103577
InterPro IPR011598 Myc-type, basic helix-loop-helix (bHLH) domain
PFAM PF00010
PRINTS
PIRSF
SMART SM00353
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q64279
PhosphoSite PhosphoSite-Q64279
TrEMBL Q5SQG1
UniProt Splice Variant
Entrez Gene 15110
UniGene Mm.4746
RefSeq
MGI ID
MGI Symbol Hand1
OMIM
CCDS CCDS24721
HPRD
IMGT
EMBL AK146084 AL732587 CH466628 S79216 U21226 U43714
GenPept AAA86273 AAA86887 AAB35104 BAE26888 EDL07780