HAND1
entrez
9421
canonical
uniprot
O96004
canonical
ensembl
ENSG00000113196
resolver
ensp
ENSP00000231121
resolver
ensp
ENSP00000548352
resolver
enst
ENST00000231121
resolver
genesymbol
HAND1
resolver
genesymbol_syn
BHLHA27
resolver
genesymbol_syn
EHAND
resolver
hgnc
HGNC:4807
resolver
uniprot_entry
HAND1_HUMAN
resolver
amino_acid_sequence
MNLVGSYAHHHHHHHPHPAHPMLHEPFLFGPASRCHQERPYFQSWLLSPADAAPDFPAGGPPPAAAAAATAYGPDARPGQSPGRLEALGGRLGRRKGSGPKKERRRTESINSAFAELRECIPNVPADTKLSKIKTLRLATSYIAYLMDVLAKDAQSGDPEAFKAELKKADGGRESKRKRELQQHEGFPPALGPVEKRIKGRTGWPQQVWALELNQ
uniprot
proteins
function
FUNCTION: Transcription factor that plays an essential role in both trophoblast giant cell differentiation and in cardiac morphogenesis (By similarity). Binds the DNA sequence 5'-NRTCTG-3' (non-canonical E-box) (By similarity). Acts as a transcriptional repressor of SOX15 (By similarity). In the adult, could be required for ongoing expression of cardiac-specific genes (PubMed:9931445). {ECO:0000250|UniProtKB:Q64279, ECO:0000269|PubMed:9931445}.
uniprot
proteins
mass_dalton
23627
uniprot
proteins
post_translational_modification
PTM: Phosphorylation by PLK4 disrupts the interaction with MDFIC and leads to translocation into the nucleoplasm, allowing dimerization and transcription factor activity. {ECO:0000250}.
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
9931445
uniprot
proteins
sequence_length
215
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: 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}.
uniprot
proteins