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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

UniProtKB/Swiss-Prot: O96004.1

Identical Proteins FASTA Graphics 

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
//
Feature
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