HAND1_BOVIN
ID HAND1_BOVIN Reviewed; 218 AA.
AC Q0VCE2;
DT 12-DEC-2006, integrated into UniProtKB/Swiss-Prot.
DT 05-SEP-2006, sequence version 1.
DT 03-AUG-2022, entry version 100.
DE RecName: Full=Heart- and neural crest derivatives-expressed protein 1;
GN Name=HAND1;
OS Bos taurus (Bovine).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Laurasiatheria; Artiodactyla; Ruminantia; Pecora; Bovidae;
OC Bovinae; Bos.
OX NCBI_TaxID=9913;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC STRAIN=Hereford; TISSUE=Placenta;
RG NIH - Mammalian Gene Collection (MGC) project;
RL Submitted (AUG-2006) to the EMBL/GenBank/DDBJ databases.
CC -!- FUNCTION: Transcription factor that plays an essential role in both
CC trophoblast giant cell differentiation and in cardiac morphogenesis (By
CC similarity). Binds the DNA sequence 5'-NRTCTG-3' (non-canonical E-box)
CC (By similarity). Acts as a transcriptional repressor of SOX15 (By
CC similarity). In the adult, could be required for ongoing expression of
CC cardiac-specific genes (By similarity). {ECO:0000250|UniProtKB:O96004,
CC ECO:0000250|UniProtKB:Q64279}.
CC -!- SUBUNIT: Efficient DNA binding requires dimerization with another bHLH
CC protein. Forms homodimers and heterodimers with TCF3 gene products E12
CC and E47, HAND2 and HEY1, HEY2 and HEYL (hairy-related transcription
CC factors). Interacts with MDFIC (By similarity). Interacts with SOX15;
CC the interaction enhances HAND1-induced differentiation of trophoblast
CC giant cells (By similarity). {ECO:0000250,
CC ECO:0000250|UniProtKB:Q64279}.
CC -!- SUBCELLULAR LOCATION: Nucleus, nucleoplasm {ECO:0000250}. Nucleus,
CC nucleolus {ECO:0000250}. Note=Interaction with MDFIC sequesters it into
CC the nucleolus, preventing the transcription factor activity.
CC Phosphorylation by PLK4 disrupts the interaction with MDFIC and
CC releases it from the nucleolus, leading to transcription factor
CC activity (By similarity). {ECO:0000250}.
CC -!- PTM: Phosphorylation by PLK4 disrupts the interaction with MDFIC and
CC leads to translocation into the nucleoplasm, allowing dimerization and
CC transcription factor activity. {ECO:0000250}.
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DR EMBL; BC120210; AAI20211.1; -; mRNA.
DR RefSeq; NP_001069229.1; NM_001075761.1.
DR AlphaFoldDB; Q0VCE2; -.
DR SMR; Q0VCE2; -.
DR STRING; 9913.ENSBTAP00000003015; -.
DR PaxDb; Q0VCE2; -.
DR Ensembl; ENSBTAT00000003015; ENSBTAP00000003015; ENSBTAG00000002335.
DR GeneID; 517952; -.
DR KEGG; bta:517952; -.
DR CTD; 9421; -.
DR VEuPathDB; HostDB:ENSBTAG00000002335; -.
DR VGNC; VGNC:29746; HAND1.
DR eggNOG; KOG4029; Eukaryota.
DR GeneTree; ENSGT00940000161111; -.
DR HOGENOM; CLU_119591_0_0_1; -.
DR InParanoid; Q0VCE2; -.
DR OMA; YFQSWVL; -.
DR OrthoDB; 1449816at2759; -.
DR TreeFam; TF315153; -.
DR Proteomes; UP000009136; Chromosome 7.
DR Bgee; ENSBTAG00000002335; Expressed in ascending colon and 31 other tissues.
DR GO; GO:0005737; C:cytoplasm; IEA:Ensembl.
DR GO; GO:0005730; C:nucleolus; IEA:UniProtKB-SubCell.
DR GO; GO:0005654; C:nucleoplasm; IEA:UniProtKB-SubCell.
DR GO; GO:0090575; C:RNA polymerase II transcription regulator complex; IEA:Ensembl.
DR GO; GO:0043425; F:bHLH transcription factor binding; IEA:Ensembl.
DR GO; GO:0001228; F:DNA-binding transcription activator activity, RNA polymerase II-specific; IEA:Ensembl.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; IBA:GO_Central.
DR GO; GO:0001227; F:DNA-binding transcription repressor activity, RNA polymerase II-specific; IEA:Ensembl.
DR GO; GO:0019899; F:enzyme binding; IEA:Ensembl.
DR GO; GO:0042803; F:protein homodimerization activity; IEA:Ensembl.
DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IEA:Ensembl.
DR GO; GO:0000977; F:RNA polymerase II transcription regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR GO; GO:0061629; F:RNA polymerase II-specific DNA-binding transcription factor binding; IEA:Ensembl.
DR GO; GO:0001221; F:transcription coregulator binding; IEA:Ensembl.
DR GO; GO:0001525; P:angiogenesis; IEA:Ensembl.
DR GO; GO:0003218; P:cardiac left ventricle formation; IEA:Ensembl.
DR GO; GO:0003219; P:cardiac right ventricle formation; IEA:Ensembl.
DR GO; GO:0060411; P:cardiac septum morphogenesis; IEA:Ensembl.
DR GO; GO:0060536; P:cartilage morphogenesis; IEA:Ensembl.
DR GO; GO:0032502; P:developmental process; IBA:GO_Central.
DR GO; GO:0003144; P:embryonic heart tube formation; IEA:Ensembl.
DR GO; GO:0007507; P:heart development; IBA:GO_Central.
DR GO; GO:0001947; P:heart looping; IEA:Ensembl.
DR GO; GO:0060485; P:mesenchyme development; IEA:Ensembl.
DR GO; GO:0001707; P:mesoderm formation; IEA:Ensembl.
DR GO; GO:0043433; P:negative regulation of DNA-binding transcription factor activity; IEA:Ensembl.
DR GO; GO:1903026; P:negative regulation of RNA polymerase II regulatory region sequence-specific DNA binding; IEA:Ensembl.
DR GO; GO:0042475; P:odontogenesis of dentin-containing tooth; IEA:Ensembl.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:0001829; P:trophectodermal cell differentiation; IEA:Ensembl.
DR GO; GO:0060707; P:trophoblast giant cell differentiation; ISS:UniProtKB.
DR GO; GO:0055010; P:ventricular cardiac muscle tissue morphogenesis; IEA:Ensembl.
DR Gene3D; 4.10.280.10; -; 1.
DR InterPro; IPR011598; bHLH_dom.
DR InterPro; IPR036638; HLH_DNA-bd_sf.
DR Pfam; PF00010; HLH; 1.
DR SMART; SM00353; HLH; 1.
DR SUPFAM; SSF47459; SSF47459; 1.
DR PROSITE; PS50888; BHLH; 1.
PE 2: Evidence at transcript level;
KW Activator; Developmental protein; DNA-binding; Nucleus; Phosphoprotein;
KW Reference proteome; Transcription; Transcription regulation.
FT CHAIN 1..218
FT /note="Heart- and neural crest derivatives-expressed
FT protein 1"
FT /id="PRO_0000269173"
FT DOMAIN 97..149
FT /note="bHLH"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00981"
FT REGION 1..23
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 56..112
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 172..203
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 7..22
FT /note="Basic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 172..187
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 110
FT /note="Phosphothreonine; by PLK4"
FT /evidence="ECO:0000250|UniProtKB:Q64279"
FT MOD_RES 112
FT /note="Phosphoserine; by PLK4"
FT /evidence="ECO:0000250|UniProtKB:Q64279"
SQ SEQUENCE 218 AA; 23966 MW; F740917BC9815CA3 CRC64;
MNLVGSYAHH HHHHHHHHPH PAHPMLHEPF LFGPASRCHQ ERPYFQSWLL SPADAAPDFP
AGGPPPAAAA AAASYGPDAR PGQSPGRLEA LGGRLGRRKG SGPKKERRRT ESINSAFAEL
RECIPNVPAD TKLSKIKTLR LATSYIAYLM DVLAKDAQAG DPEAFKAELK KADGGRESKR
KRELQQHEGF PPALGPGEKR IKGRTGWPQQ VWALELNQ