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Heart- and neural crest derivatives-expressed protein 1 (Class A basic helix-loop-helix protein 27) (bHLHa27) (Extraembryonic tissues, heart, autonomic nervous system and neural crest derivatives-expressed protein 1) (eHAND)

 HAND1_HUMAN             Reviewed;         215 AA.
O96004;
01-DEC-2000, integrated into UniProtKB/Swiss-Prot.
01-MAY-1999, sequence version 1.
28-MAR-2018, entry version 149.
RecName: Full=Heart- and neural crest derivatives-expressed protein 1;
AltName: Full=Class A basic helix-loop-helix protein 27;
Short=bHLHa27;
AltName: Full=Extraembryonic tissues, heart, autonomic nervous system and neural crest derivatives-expressed protein 1;
Short=eHAND;
Name=HAND1; Synonyms=BHLHA27, EHAND;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA].
TISSUE=Heart;
PubMed=9931445; DOI=10.1016/S0378-1119(98)00511-3;
Knoefler M., Meinhardt G., Vasicek R., Husslein P., Egarter C.;
"Molecular cloning of the human Hand1 gene/cDNA and its tissue-
restricted expression in cytotrophoblastic cells and heart.";
Gene 224:77-86(1998).
[2]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Brain;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
-!- 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}.
-!- SUBUNIT: Efficient DNA binding requires dimerization with another
bHLH protein. Forms homodimers and heterodimers with TCF3 gene
products E12 and E47, HAND2 and HEY1, HEY2 and HEYL (hairy-related
transcription factors). Interacts with MDFIC (By similarity).
{ECO:0000250}.
-!- 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}.
-!- TISSUE SPECIFICITY: Heart.
-!- PTM: Phosphorylation by PLK4 disrupts the interaction with MDFIC
and leads to translocation into the nucleoplasm, allowing
dimerization and transcription factor activity. {ECO:0000250}.
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EMBL; AF063012; AAD19283.1; -; Genomic_DNA.
EMBL; AF061756; AAD19280.1; -; mRNA.
EMBL; BC021190; AAH21190.1; -; mRNA.
CCDS; CCDS4327.1; -.
RefSeq; NP_004812.1; NM_004821.2.
UniGene; Hs.152531; -.
ProteinModelPortal; O96004; -.
SMR; O96004; -.
BioGrid; 114814; 10.
IntAct; O96004; 4.
MINT; O96004; -.
STRING; 9606.ENSP00000231121; -.
iPTMnet; O96004; -.
PhosphoSitePlus; O96004; -.
BioMuta; HAND1; -.
EPD; O96004; -.
PaxDb; O96004; -.
PeptideAtlas; O96004; -.
PRIDE; O96004; -.
DNASU; 9421; -.
Ensembl; ENST00000231121; ENSP00000231121; ENSG00000113196.
GeneID; 9421; -.
KEGG; hsa:9421; -.
UCSC; uc003lvn.3; human.
CTD; 9421; -.
DisGeNET; 9421; -.
EuPathDB; HostDB:ENSG00000113196.2; -.
GeneCards; HAND1; -.
HGNC; HGNC:4807; HAND1.
HPA; HPA040925; -.
MIM; 602406; gene.
neXtProt; NX_O96004; -.
OpenTargets; ENSG00000113196; -.
PharmGKB; PA29183; -.
eggNOG; KOG4029; Eukaryota.
eggNOG; ENOG411227D; LUCA.
GeneTree; ENSGT00760000119097; -.
HOGENOM; HOG000232082; -.
HOVERGEN; HBG051880; -.
InParanoid; O96004; -.
KO; K09071; -.
OMA; RPYFQSW; -.
OrthoDB; EOG091G0MSL; -.
PhylomeDB; O96004; -.
TreeFam; TF315153; -.
SIGNOR; O96004; -.
GeneWiki; HAND1; -.
GenomeRNAi; 9421; -.
PRO; PR:O96004; -.
Proteomes; UP000005640; Chromosome 5.
Bgee; ENSG00000113196; -.
CleanEx; HS_HAND1; -.
Genevisible; O96004; HS.
GO; GO:0005737; C:cytoplasm; IDA:BHF-UCL.
GO; GO:0005730; C:nucleolus; IEA:UniProtKB-SubCell.
GO; GO:0005654; C:nucleoplasm; IEA:UniProtKB-SubCell.
GO; GO:0005634; C:nucleus; IDA:BHF-UCL.
GO; GO:0090575; C:RNA polymerase II transcription factor complex; IDA:BHF-UCL.
GO; GO:0043425; F:bHLH transcription factor binding; IPI:BHF-UCL.
GO; GO:0019899; F:enzyme binding; IEA:Ensembl.
GO; GO:0042802; F:identical protein binding; ISS:BHF-UCL.
GO; GO:0046982; F:protein heterodimerization activity; IEA:Ensembl.
GO; GO:0042803; F:protein homodimerization activity; NAS:BHF-UCL.
GO; GO:0000978; F:RNA polymerase II proximal promoter sequence-specific DNA binding; IDA:NTNU_SB.
GO; GO:0000981; F:RNA polymerase II transcription factor activity, sequence-specific DNA binding; ISM:NTNU_SB.
GO; GO:0003713; F:transcription coactivator activity; IDA:BHF-UCL.
GO; GO:0003714; F:transcription corepressor activity; IC:BHF-UCL.
GO; GO:0008134; F:transcription factor binding; IPI:BHF-UCL.
GO; GO:0001078; F:transcriptional repressor activity, RNA polymerase II proximal promoter sequence-specific DNA binding; IDA:NTNU_SB.
GO; GO:0001525; P:angiogenesis; ISS:BHF-UCL.
GO; GO:0001824; P:blastocyst development; IEP:BHF-UCL.
GO; GO:0003218; P:cardiac left ventricle formation; IMP:BHF-UCL.
GO; GO:0003219; P:cardiac right ventricle formation; IMP:BHF-UCL.
GO; GO:0060411; P:cardiac septum morphogenesis; IMP:BHF-UCL.
GO; GO:0060536; P:cartilage morphogenesis; IEA:Ensembl.
GO; GO:0035050; P:embryonic heart tube development; ISS:BHF-UCL.
GO; GO:0003144; P:embryonic heart tube formation; IEA:Ensembl.
GO; GO:0007507; P:heart development; ISS:BHF-UCL.
GO; GO:0001947; P:heart looping; ISS:BHF-UCL.
GO; GO:0060485; P:mesenchyme development; IEA:Ensembl.
GO; GO:0001707; P:mesoderm formation; IEA:Ensembl.
GO; GO:0043433; P:negative regulation of DNA binding transcription factor activity; IDA:BHF-UCL.
GO; GO:1903026; P:negative regulation of RNA polymerase II regulatory region sequence-specific DNA binding; IDA:BHF-UCL.
GO; GO:0000122; P:negative regulation of transcription by RNA polymerase II; IDA:BHF-UCL.
GO; GO:0045892; P:negative regulation of transcription, DNA-templated; IDA:BHF-UCL.
GO; GO:0042475; P:odontogenesis of dentin-containing tooth; IEA:Ensembl.
GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; IDA:BHF-UCL.
GO; GO:0006366; P:transcription by RNA polymerase II; IDA:BHF-UCL.
GO; GO:0001829; P:trophectodermal cell differentiation; IEP:BHF-UCL.
GO; GO:0060707; P:trophoblast giant cell differentiation; IEA:Ensembl.
GO; GO:0055010; P:ventricular cardiac muscle tissue morphogenesis; IMP:BHF-UCL.
CDD; cd00083; HLH; 1.
Gene3D; 4.10.280.10; -; 1.
InterPro; IPR011598; bHLH_dom.
InterPro; IPR036638; HLH_DNA-bd_sf.
Pfam; PF00010; HLH; 1.
SMART; SM00353; HLH; 1.
SUPFAM; SSF47459; SSF47459; 1.
PROSITE; PS50888; BHLH; 1.
2: Evidence at transcript level;
Activator; Complete proteome; Developmental protein; DNA-binding;
Nucleus; Phosphoprotein; Reference proteome; Transcription;
Transcription regulation.
CHAIN 1 215 Heart- and neural crest derivatives-
expressed protein 1.
/FTId=PRO_0000127184.
DOMAIN 94 146 bHLH. {ECO:0000255|PROSITE-
ProRule:PRU00981}.
COMPBIAS 9 17 Poly-His.
COMPBIAS 64 71 Poly-Ala.
MOD_RES 107 107 Phosphothreonine; by PLK4.
{ECO:0000250|UniProtKB:Q64279}.
MOD_RES 109 109 Phosphoserine; by PLK4.
{ECO:0000250|UniProtKB:Q64279}.
SEQUENCE 215 AA; 23627 MW; 7ED98EA081A8D6BA CRC64;
MNLVGSYAHH HHHHHPHPAH PMLHEPFLFG PASRCHQERP YFQSWLLSPA DAAPDFPAGG
PPPAAAAAAT AYGPDARPGQ SPGRLEALGG RLGRRKGSGP KKERRRTESI NSAFAELREC
IPNVPADTKL SKIKTLRLAT SYIAYLMDVL AKDAQSGDPE AFKAELKKAD GGRESKRKRE
LQQHEGFPPA LGPVEKRIKG RTGWPQQVWA LELNQ


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