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
|
|
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 |
|
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]
|
|
|
Molecular Function |
|
Biological Process |
|
Cellular Component |
|
PDB ID |
MGI:103577
|
InterPro |
IPR011598
Myc-type, basic helix-loop-helix (bHLH) domain
|
PFAM |
PF00010
|
PRINTS |
|
PIRSF |
|
SMART |
SM00353
|
TIGRFAMs |
|
Modification |
|
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
|
|
|