UniProtKB - O96004 (HAND1_HUMAN)
Heart- and neural crest derivatives-expressed protein 1
HAND1
Functioni
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).
By similarity1 PublicationGO - Molecular functioni
- bHLH transcription factor binding Source: BHF-UCL
- DNA-binding transcription activator activity, RNA polymerase II-specific Source: BHF-UCL
- DNA-binding transcription factor activity, RNA polymerase II-specific Source: BHF-UCL
- DNA-binding transcription repressor activity, RNA polymerase II-specific Source: NTNU_SB
- enzyme binding Source: Ensembl
- identical protein binding Source: BHF-UCL
- protein homodimerization activity Source: Ensembl
- RNA polymerase II cis-regulatory region sequence-specific DNA binding Source: NTNU_SB
- RNA polymerase II-specific DNA-binding transcription factor binding Source: BHF-UCL
- RNA polymerase II transcription regulatory region sequence-specific DNA binding Source: GO_Central
- transcription coregulator 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
- developmental process Source: GO_Central
- 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
- regulation of transcription by RNA polymerase II Source: GO_Central
- trophectodermal cell differentiation Source: BHF-UCL
- trophoblast giant cell differentiation Source: UniProtKB
- ventricular cardiac muscle tissue morphogenesis Source: BHF-UCL
Keywordsi
Molecular function | Activator, Developmental protein, DNA-binding |
Biological process | Transcription, Transcription regulation |
Enzyme and pathway databases
PathwayCommonsi | O96004 |
SignaLinki | O96004 |
SIGNORi | O96004 |
Names & Taxonomyi
Protein namesi | Recommended name: Heart- and neural crest derivatives-expressed protein 1Alternative 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 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:4807, HAND1 |
MIMi | 602406, gene |
neXtProti | NX_O96004 |
VEuPathDBi | HostDB:ENSG00000113196 |
Subcellular locationi
Nucleus
- nucleoplasm By similarity
- nucleolus By similarity
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).By similarity
Nucleus
- nucleolus Source: UniProtKB-SubCell
- nucleoplasm Source: UniProtKB-SubCell
- nucleus Source: BHF-UCL
- RNA polymerase II transcription regulator complex Source: BHF-UCL
Other locations
Keywords - Cellular componenti
NucleusPathology & Biotechi
Organism-specific databases
DisGeNETi | 9421 |
OpenTargetsi | ENSG00000113196 |
PharmGKBi | PA29183 |
Miscellaneous databases
Pharosi | O96004, Tbio |
Genetic variation databases
BioMutai | HAND1 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000127184 | 1 – 215 | Heart- and neural crest derivatives-expressed protein 1Add BLAST | 215 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 107 | Phosphothreonine; by PLK4By similarity | 1 | |
Modified residuei | 109 | Phosphoserine; by PLK4By similarity | 1 |
Post-translational modificationi
Keywords - PTMi
PhosphoproteinProteomic databases
MassIVEi | O96004 |
PaxDbi | O96004 |
PeptideAtlasi | O96004 |
PRIDEi | O96004 |
ProteomicsDBi | 51183 |
PTM databases
iPTMneti | O96004 |
PhosphoSitePlusi | O96004 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000113196, Expressed in amniotic fluid and 70 other tissues |
Genevisiblei | O96004, HS |
Organism-specific databases
HPAi | ENSG00000113196, Tissue enhanced (heart muscle, intestine, smooth muscle) |
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).
Interacts with SOX15; the interaction enhances HAND1-induced differentiation of trophoblast giant cells (By similarity).
By similarityBinary interactionsi
O96004
GO - Molecular functioni
- bHLH transcription factor binding Source: BHF-UCL
- enzyme binding Source: Ensembl
- identical protein binding Source: BHF-UCL
- protein homodimerization activity Source: Ensembl
- RNA polymerase II-specific DNA-binding transcription factor binding Source: BHF-UCL
- transcription coregulator binding Source: BHF-UCL
Protein-protein interaction databases
BioGRIDi | 114814, 14 interactors |
IntActi | O96004, 8 interactors |
MINTi | O96004 |
STRINGi | 9606.ENSP00000231121 |
Miscellaneous databases
RNActi | O96004, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 94 – 146 | bHLHPROSITE-ProRule annotationAdd BLAST | 53 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 53 – 109 | DisorderedSequence analysisAdd BLAST | 57 | |
Regioni | 166 – 198 | DisorderedSequence analysisAdd BLAST | 33 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 166 – 184 | Basic and acidic residuesSequence analysisAdd BLAST | 19 |
Phylogenomic databases
eggNOGi | KOG4029, Eukaryota |
GeneTreei | ENSGT00940000161111 |
HOGENOMi | CLU_119591_0_0_1 |
InParanoidi | O96004 |
OMAi | YFQSWVL |
OrthoDBi | 1449816at2759 |
PhylomeDBi | O96004 |
TreeFami | TF315153 |
Family and domain databases
Gene3Di | 4.10.280.10, 1 hit |
InterProi | View protein in InterPro IPR011598, bHLH_dom IPR036638, HLH_DNA-bd_sf |
Pfami | View protein in Pfam PF00010, HLH, 1 hit |
SMARTi | View protein in SMART SM00353, HLH, 1 hit |
SUPFAMi | SSF47459, SSF47459, 1 hit |
PROSITEi | View protein in PROSITE PS50888, BHLH, 1 hit |
i Sequence
Sequence statusi: Complete.
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
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 |
CCDSi | CCDS4327.1 |
RefSeqi | NP_004812.1, NM_004821.2 |
Genome annotation databases
Ensembli | ENST00000231121.3; ENSP00000231121.2; ENSG00000113196.3 |
GeneIDi | 9421 |
KEGGi | hsa:9421 |
MANE-Selecti | ENST00000231121.3; ENSP00000231121.2; NM_004821.3; NP_004812.1 |
UCSCi | uc003lvn.3, human |
Similar proteinsi
Cross-referencesi
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 |
CCDSi | CCDS4327.1 |
RefSeqi | NP_004812.1, NM_004821.2 |
3D structure databases
AlphaFoldDBi | O96004 |
SMRi | O96004 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 114814, 14 interactors |
IntActi | O96004, 8 interactors |
MINTi | O96004 |
STRINGi | 9606.ENSP00000231121 |
PTM databases
iPTMneti | O96004 |
PhosphoSitePlusi | O96004 |
Genetic variation databases
BioMutai | HAND1 |
Proteomic databases
MassIVEi | O96004 |
PaxDbi | O96004 |
PeptideAtlasi | O96004 |
PRIDEi | O96004 |
ProteomicsDBi | 51183 |
Protocols and materials databases
Antibodypediai | 16446, 377 antibodies from 34 providers |
DNASUi | 9421 |
Genome annotation databases
Ensembli | ENST00000231121.3; ENSP00000231121.2; ENSG00000113196.3 |
GeneIDi | 9421 |
KEGGi | hsa:9421 |
MANE-Selecti | ENST00000231121.3; ENSP00000231121.2; NM_004821.3; NP_004812.1 |
UCSCi | uc003lvn.3, human |
Organism-specific databases
CTDi | 9421 |
DisGeNETi | 9421 |
GeneCardsi | HAND1 |
HGNCi | HGNC:4807, HAND1 |
HPAi | ENSG00000113196, Tissue enhanced (heart muscle, intestine, smooth muscle) |
MIMi | 602406, gene |
neXtProti | NX_O96004 |
OpenTargetsi | ENSG00000113196 |
PharmGKBi | PA29183 |
VEuPathDBi | HostDB:ENSG00000113196 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG4029, Eukaryota |
GeneTreei | ENSGT00940000161111 |
HOGENOMi | CLU_119591_0_0_1 |
InParanoidi | O96004 |
OMAi | YFQSWVL |
OrthoDBi | 1449816at2759 |
PhylomeDBi | O96004 |
TreeFami | TF315153 |
Enzyme and pathway databases
PathwayCommonsi | O96004 |
SignaLinki | O96004 |
SIGNORi | O96004 |
Miscellaneous databases
BioGRID-ORCSi | 9421, 13 hits in 1094 CRISPR screens |
GeneWikii | HAND1 |
GenomeRNAii | 9421 |
Pharosi | O96004, Tbio |
PROi | PR:O96004 |
RNActi | O96004, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000113196, Expressed in amniotic fluid and 70 other tissues |
Genevisiblei | O96004, HS |
Family and domain databases
Gene3Di | 4.10.280.10, 1 hit |
InterProi | View protein in InterPro IPR011598, bHLH_dom IPR036638, HLH_DNA-bd_sf |
Pfami | View protein in Pfam PF00010, HLH, 1 hit |
SMARTi | View protein in SMART SM00353, HLH, 1 hit |
SUPFAMi | SSF47459, SSF47459, 1 hit |
PROSITEi | View protein in PROSITE PS50888, BHLH, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | HAND1_HUMAN | |
Accessioni | O96004Primary (citable) accession number: O96004 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | December 1, 2000 |
Last sequence update: | May 1, 1999 | |
Last modified: | May 25, 2022 | |
This is version 174 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human chromosome 5
Human chromosome 5: entries, gene names and cross-references to MIM - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot