LOCUS HAND1_HUMAN 215 aa linear PRI 27-NOV-2024
DEFINITION 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.
ACCESSION O96004
VERSION O96004.1
DBSOURCE UniProtKB: locus HAND1_HUMAN, accession O96004;
class: standard.
created: Dec 1, 2000.
sequence updated: May 1, 1999.
annotation updated: Nov 27, 2024.
xrefs: AF063012.1, AAD19283.1, AF061756.1, AAD19280.1, BC021190.2,
AAH21190.1, NP_004812.1
xrefs (non-sequence databases): CCDS:CCDS4327.1,
AlphaFoldDB:O96004, SMR:O96004, BioGRID:114814, IntAct:O96004,
MINT:O96004, STRING:9606.ENSP00000231121, iPTMnet:O96004,
PhosphoSitePlus:O96004, BioMuta:HAND1, MassIVE:O96004,
PaxDb:9606-ENSP00000231121, PeptideAtlas:O96004,
ProteomicsDB:51183, Antibodypedia:16446, DNASU:9421,
Ensembl:ENST00000231121.3, Ensembl:ENSP00000231121.2,
Ensembl:ENSG00000113196.3, GeneID:9421, KEGG:hsa:9421,
MANE-Select:ENST00000231121.3, UCSC:uc003lvn.3, AGR:HGNC:4807,
CTD:9421, DisGeNET:9421, GeneCards:HAND1, HGNC:4807,
HPA:ENSG00000113196, MIM 602406, neXtProt:NX_O96004,
OpenTargets:ENSG00000113196, PharmGKB:PA29183,
VEuPathDB:HostDB:ENSG00000113196, eggNOG:KOG4029,
GeneTree:ENSGT00940000161111, HOGENOM:CLU_119591_0_0_1,
InParanoid:O96004, OMA:SRCHQDR, OrthoDB:5386175at2759,
PhylomeDB:O96004, TreeFam:TF315153, PathwayCommons:O96004,
Reactome:R-HSA-9733709, SignaLink:O96004, SIGNOR:O96004,
BioGRID-ORCS:9421, GeneWiki:HAND1, GenomeRNAi:9421, Pharos:O96004,
PRO:PR:O96004, Proteomes:UP000005640, RNAct:O96004,
Bgee:ENSG00000113196, GO:0000785, GO:0005737, GO:0005730,
GO:0005654, GO:0005634, GO:0090575, GO:0043425, GO:0001228,
GO:0000981, GO:0001227, GO:0019899, GO:0042802, GO:0042803,
GO:0000978, GO:0000977, GO:0061629, GO:0001221, GO:0001525,
GO:0001824, GO:0003218, GO:0003219, GO:0060411, GO:0060536,
GO:0035050, GO:0003144, GO:0007507, GO:0001947, GO:0060485,
GO:0001707, GO:0043433, GO:0045892, GO:1903026, GO:0000122,
GO:0042475, GO:0045944, GO:0006357, GO:0001829, GO:0060707,
GO:0055010, CDD:cd18952, FunFam:4.10.280.10:FF:000010,
Gene3D:4.10.280.10, InterPro:IPR011598, InterPro:IPR050283,
InterPro:IPR036638, PANTHER:PTHR23349, PANTHER:PTHR23349:SF3,
Pfam:PF00010, SMART:SM00353, SUPFAM:SSF47459, PROSITE:PS50888
KEYWORDS Activator; Developmental protein; DNA-binding; Nucleus;
Phosphoprotein; Proteomics identification; Reference proteome;
Transcription; Transcription regulation.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (residues 1 to 215)
AUTHORS Knofler,M., Meinhardt,G., Vasicek,R., Husslein,P. and Egarter,C.
TITLE Molecular cloning of the human Hand1 gene/cDNA and its
tissue-restricted expression in cytotrophoblastic cells and heart
JOURNAL Gene 224 (1-2), 77-86 (1998)
PUBMED 9931445
REMARK NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], AND FUNCTION.;
TISSUE=Heart
REFERENCE 2 (residues 1 to 215)
AUTHORS Gerhard,D.S., Wagner,L., Feingold,E.A., Shenmen,C.M., Grouse,L.H.,
Schuler,G., Klein,S.L., Old,S., Rasooly,R., Good,P., Guyer,M.,
Peck,A.M., Derge,J.G., Lipman,D., Collins,F.S., Jang,W., Sherry,S.,
Feolo,M., Misquitta,L., Lee,E., Rotmistrovsky,K., Greenhut,S.F.,
Schaefer,C.F., Buetow,K., Bonner,T.I., Haussler,D., Kent,J.,
Kiekhaus,M., Furey,T., Brent,M., Prange,C., Schreiber,K.,
Shapiro,N., Bhat,N.K., Hopkins,R.F., Hsie,F., Driscoll,T.,
Soares,M.B., Casavant,T.L., Scheetz,T.E., Brown-stein,M.J.,
Usdin,T.B., Toshiyuki,S., Carninci,P., Piao,Y., Dudekula,D.B.,
Ko,M.S., Kawakami,K., Suzuki,Y., Sugano,S., Gruber,C.E.,
Smith,M.R., Simmons,B., Moore,T., Waterman,R., Johnson,S.L.,
Ruan,Y., Wei,C.L., Mathavan,S., Gunaratne,P.H., Wu,J., Garcia,A.M.,
Hulyk,S.W., Fuh,E., Yuan,Y., Sneed,A., Kowis,C., Hodgson,A.,
Muzny,D.M., McPherson,J., Gibbs,R.A., Fahey,J., Helton,E.,
Ketteman,M., Madan,A., Rodrigues,S., Sanchez,A., Whiting,M.,
Madari,A., Young,A.C., Wetherby,K.D., Granite,S.J., Kwong,P.N.,
Brinkley,C.P., Pearson,R.L., Bouffard,G.G., Blakesly,R.W.,
Green,E.D., Dickson,M.C., Rodriguez,A.C., Grimwood,J., Schmutz,J.,
Myers,R.M., Butterfield,Y.S., Griffith,M., Griffith,O.L.,
Krzywinski,M.I., Liao,N., Morin,R., Palmquist,D., Petrescu,A.S.,
Skalska,U., Smailus,D.E., Stott,J.M., Schnerch,A., Schein,J.E.,
Jones,S.J., Holt,R.A., Baross,A., Marra,M.A., Clifton,S.,
Makowski,K.A., Bosak,S. and Malek,J.
CONSRTM MGC Project Team
TITLE The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC)
JOURNAL Genome Res 14 (10B), 2121-2127 (2004)
PUBMED 15489334
REMARK NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].;
TISSUE=Brain
Erratum:[Genome Res. 2006 Jun;16(6):804. Morrin, Ryan [corrected to
Morin, Ryan]]
COMMENT [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}.
[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).
Interacts with SOX15; the interaction enhances HAND1-induced
differentiation of trophoblast giant cells (By similarity).
{ECO:0000250, ECO:0000250|UniProtKB:Q64279}.
[INTERACTION] O96004; G5E9A7: DMWD; NbExp=3; IntAct=EBI-11320290,
EBI-10976677; O96004; P60371: KRTAP10-6; NbExp=3;
IntAct=EBI-11320290, EBI-12012928; O96004; A0A6Q8PF08: PMP22;
NbExp=3; IntAct=EBI-11320290, EBI-50433196; O96004; Q7Z699: SPRED1;
NbExp=3; IntAct=EBI-11320290, EBI-5235340; O96004; Q99081-3: TCF12;
NbExp=3; IntAct=EBI-11320290, EBI-11952764; O96004; P15923-3: TCF3;
NbExp=3; IntAct=EBI-11320290, EBI-12000326; O96004; Q86WV8: TSC1;
NbExp=3; IntAct=EBI-11320290, EBI-12806590.
[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}.
FEATURES Location/Qualifiers
source 1..215
/organism="Homo sapiens"
/db_xref="taxon:9606"
gene 1..215
/gene="HAND1"
/gene_synonym="BHLHA27"
/gene_synonym="EHAND"
Protein 1..215
/product="Heart- and neural crest derivatives-expressed
protein 1"
/note="Class A basic helix-loop-helix protein 27;
Extraembryonic tissues, heart, autonomic nervous system
and neural crest derivatives-expressed protein 1; bHLHa27;
eHAND"
/UniProtKB_evidence="Evidence at protein level"
Region 1..215
/region_name="Mature chain"
/note="Heart- and neural crest derivatives-expressed
protein 1. /id=PRO_0000127184."
Region 53..109
/region_name="Region of interest in the sequence"
/note="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite."
Region 94..153
/region_name="bHLH_TS_HAND1"
/note="basic helix-loop-helix (bHLH) domain found in
heart- and neural crest derivatives-expressed protein 1
(HAND1) and similar proteins; cd18952"
/db_xref="CDD:381522"
Region 94..146
/region_name="Domain"
/note="bHLH.
/evidence=ECO:0000255|PROSITE-ProRule:PRU00981."
Site order(96,100,102..104,106,111,129..132)
/site_type="other"
/note="putative DNA binding site [nucleotide binding]"
/db_xref="CDD:381522"
Site 107
/site_type="phosphorylation"
/note="Phosphothreonine; by PLK4.
/evidence=ECO:0000250|UniProtKB:Q64279."
Site order(109..110,113..114,116..117,133,136,140,142..143,147,
149..150)
/site_type="other"
/note="putative dimer interface [polypeptide binding]"
/db_xref="CDD:381522"
Site 109
/site_type="phosphorylation"
/note="Phosphoserine; by PLK4.
/evidence=ECO:0000250|UniProtKB:Q64279."
Region 166..198
/region_name="Region of interest in the sequence"
/note="Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite."
Region 166..184
/region_name="Compositionally biased region"
/note="Basic and acidic residues.
/evidence=ECO:0000256|SAM:MobiDB-lite."
ORIGIN
1 mnlvgsyahh hhhhhphpah pmlhepflfg pasrchqerp yfqswllspa daapdfpagg
61 pppaaaaaat aygpdarpgq spgrlealgg rlgrrkgsgp kkerrrtesi nsafaelrec
121 ipnvpadtkl skiktlrlat syiaylmdvl akdaqsgdpe afkaelkkad ggreskrkre
181 lqqhegfppa lgpvekrikg rtgwpqqvwa lelnq
//