InnateDB Protein
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IDBP-54936.4
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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HAND1
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Protein Name
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heart and neural crest derivatives expressed 1
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Synonyms
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bHLHa27; eHand; Hxt; Thing1;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000231121
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InnateDB Gene
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IDBG-54934 (HAND1)
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Protein Structure
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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) (By similarity). {ECO:0000250}.
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Subcellular Localization |
Nucleus, nucleoplasm {ECO:0000250}. Nucleus, nucleolus {ECO:0000250}. 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). {ECO:0000250}.
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Disease Associations |
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Tissue Specificity |
Heart.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.
They are also associated with 10 interaction(s) predicted by orthology.
Experimentally validated |
Total |
6
[view]
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Protein-Protein |
6
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
10 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR011598
Myc-type, basic helix-loop-helix (bHLH) domain
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PFAM |
PF00010
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PRINTS |
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PIRSF |
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SMART |
SM00353
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TIGRFAMs |
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Modification |
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SwissProt |
O96004
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PhosphoSite |
PhosphoSite-O96004
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
9421
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UniGene |
Hs.152531
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RefSeq |
NP_004812
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HUGO |
HGNC:4807
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OMIM |
602406
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CCDS |
CCDS4327
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HPRD |
03871
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IMGT |
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EMBL |
AF061756
AF063012
BC021190
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GenPept |
AAD19280
AAD19283
AAH21190
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