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Protein

Heart- and neural crest derivatives-expressed protein 1

Gene

HAND1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at transcript leveli

Functioni

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).By similarity

GO - Molecular functioni

  • bHLH transcription factor binding Source: BHF-UCL
  • enzyme binding Source: Ensembl
  • identical protein binding Source: BHF-UCL
  • protein heterodimerization activity Source: Ensembl
  • protein homodimerization activity Source: BHF-UCL
  • RNA polymerase II proximal promoter sequence-specific DNA binding Source: NTNU_SB
  • RNA polymerase II transcription factor activity, sequence-specific DNA binding Source: NTNU_SB
  • transcriptional repressor activity, RNA polymerase II proximal promoter sequence-specific DNA binding Source: NTNU_SB
  • transcription coactivator activity Source: BHF-UCL
  • transcription corepressor activity Source: BHF-UCL
  • transcription factor binding Source: BHF-UCL

GO - Biological processi

  • angiogenesis Source: BHF-UCL
  • blastocyst development Source: BHF-UCL
  • cardiac left ventricle formation Source: BHF-UCL
  • cardiac right ventricle formation Source: BHF-UCL
  • cardiac septum morphogenesis Source: BHF-UCL
  • cartilage morphogenesis Source: Ensembl
  • embryonic heart tube development Source: BHF-UCL
  • embryonic heart tube formation Source: Ensembl
  • heart development Source: BHF-UCL
  • heart looping Source: BHF-UCL
  • mesenchyme development Source: Ensembl
  • mesoderm formation Source: Ensembl
  • negative regulation of DNA binding transcription factor activity Source: BHF-UCL
  • negative regulation of RNA polymerase II regulatory region sequence-specific DNA binding Source: BHF-UCL
  • negative regulation of transcription, DNA-templated Source: BHF-UCL
  • negative regulation of transcription by RNA polymerase II Source: BHF-UCL
  • odontogenesis of dentin-containing tooth Source: Ensembl
  • positive regulation of transcription by RNA polymerase II Source: BHF-UCL
  • transcription by RNA polymerase II Source: BHF-UCL
  • trophectodermal cell differentiation Source: BHF-UCL
  • trophoblast giant cell differentiation Source: Ensembl
  • ventricular cardiac muscle tissue morphogenesis Source: BHF-UCL

Keywordsi

Molecular functionActivator, Developmental protein, DNA-binding
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

SIGNORiO96004

Names & Taxonomyi

Protein namesi
Recommended name:
Heart- and neural crest derivatives-expressed protein 1
Alternative name(s):
Class A basic helix-loop-helix protein 27
Short name:
bHLHa27
Extraembryonic tissues, heart, autonomic nervous system and neural crest derivatives-expressed protein 1
Short name:
eHAND
Gene namesi
Name:HAND1
Synonyms:BHLHA27, EHAND
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

EuPathDBiHostDB:ENSG00000113196.2
HGNCiHGNC:4807 HAND1
MIMi602406 gene
neXtProtiNX_O96004

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi9421
OpenTargetsiENSG00000113196
PharmGKBiPA29183

Polymorphism and mutation databases

BioMutaiHAND1

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001271841 – 215Heart- and neural crest derivatives-expressed protein 1Add BLAST215

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei107Phosphothreonine; by PLK4By similarity1
Modified residuei109Phosphoserine; by PLK4By similarity1

Post-translational modificationi

Phosphorylation by PLK4 disrupts the interaction with MDFIC and leads to translocation into the nucleoplasm, allowing dimerization and transcription factor activity.By similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiO96004
PaxDbiO96004
PeptideAtlasiO96004
PRIDEiO96004
ProteomicsDBi51183

PTM databases

iPTMnetiO96004
PhosphoSitePlusiO96004

Expressioni

Tissue specificityi

Heart.

Gene expression databases

BgeeiENSG00000113196
CleanExiHS_HAND1
GenevisibleiO96004 HS

Organism-specific databases

HPAiHPA040925

Interactioni

Subunit structurei

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).By similarity

GO - Molecular functioni

  • bHLH transcription factor binding Source: BHF-UCL
  • enzyme binding Source: Ensembl
  • identical protein binding Source: BHF-UCL
  • protein heterodimerization activity Source: Ensembl
  • protein homodimerization activity Source: BHF-UCL
  • transcription factor binding Source: BHF-UCL

Protein-protein interaction databases

BioGridi114814, 10 interactors
IntActiO96004, 4 interactors
MINTiO96004
STRINGi9606.ENSP00000231121

Structurei

3D structure databases

ProteinModelPortaliO96004
SMRiO96004
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini94 – 146bHLHPROSITE-ProRule annotationAdd BLAST53

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi9 – 17Poly-His9
Compositional biasi64 – 71Poly-Ala8

Phylogenomic databases

eggNOGiKOG4029 Eukaryota
ENOG411227D LUCA
GeneTreeiENSGT00760000119097
HOGENOMiHOG000232082
HOVERGENiHBG051880
InParanoidiO96004
KOiK09071
OMAiRPYFQSW
OrthoDBiEOG091G0MSL
PhylomeDBiO96004
TreeFamiTF315153

Family and domain databases

CDDicd00083 HLH, 1 hit
Gene3Di4.10.280.10, 1 hit
InterProiView protein in InterPro
IPR011598 bHLH_dom
IPR036638 HLH_DNA-bd_sf
PfamiView protein in Pfam
PF00010 HLH, 1 hit
SMARTiView protein in SMART
SM00353 HLH, 1 hit
SUPFAMiSSF47459 SSF47459, 1 hit
PROSITEiView protein in PROSITE
PS50888 BHLH, 1 hit

Sequencei

Sequence statusi: Complete.

O96004-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MNLVGSYAHH HHHHHPHPAH PMLHEPFLFG PASRCHQERP YFQSWLLSPA
60 70 80 90 100
DAAPDFPAGG PPPAAAAAAT AYGPDARPGQ SPGRLEALGG RLGRRKGSGP
110 120 130 140 150
KKERRRTESI NSAFAELREC IPNVPADTKL SKIKTLRLAT SYIAYLMDVL
160 170 180 190 200
AKDAQSGDPE AFKAELKKAD GGRESKRKRE LQQHEGFPPA LGPVEKRIKG
210
RTGWPQQVWA LELNQ
Length:215
Mass (Da):23,627
Last modified:May 1, 1999 - v1
Checksum:i7ED98EA081A8D6BA
GO

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF063012 Genomic DNA Translation: AAD19283.1
AF061756 mRNA Translation: AAD19280.1
BC021190 mRNA Translation: AAH21190.1
CCDSiCCDS4327.1
RefSeqiNP_004812.1, NM_004821.2
UniGeneiHs.152531

Genome annotation databases

EnsembliENST00000231121; ENSP00000231121; ENSG00000113196
GeneIDi9421
KEGGihsa:9421
UCSCiuc003lvn.3 human

Similar proteinsi

Entry informationi

Entry nameiHAND1_HUMAN
AccessioniPrimary (citable) accession number: O96004
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: May 1, 1999
Last modified: June 20, 2018
This is version 151 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

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