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O96004 (HAND1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 122. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:HAND1
Synonyms:BHLHA27, EHAND
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length215 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

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.

Subunit structure

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.

Subcellular location

Nucleusnucleoplasm By similarity. Nucleusnucleolus 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.

Tissue specificity

Heart.

Post-translational modification

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

Sequence similarities

Contains 1 bHLH (basic helix-loop-helix) domain.

Ontologies

Keywords
   Biological processTranscription
Transcription regulation
   Cellular componentNucleus
   LigandDNA-binding
   Molecular functionActivator
Developmental protein
   PTMPhosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processangiogenesis

Inferred from sequence or structural similarity. Source: BHF-UCL

blastocyst development

Inferred from expression pattern PubMed 11802795. Source: BHF-UCL

cardiac left ventricle formation

Inferred from mutant phenotype PubMed 18276607. Source: BHF-UCL

cardiac right ventricle formation

Inferred from mutant phenotype PubMed 18276607. Source: BHF-UCL

cardiac septum morphogenesis

Inferred from mutant phenotype PubMed 19586923. Source: BHF-UCL

cartilage morphogenesis

Inferred from electronic annotation. Source: Ensembl

embryonic heart tube development

Inferred from sequence or structural similarity. Source: BHF-UCL

embryonic heart tube formation

Inferred from electronic annotation. Source: Ensembl

heart development

Inferred from sequence or structural similarity. Source: BHF-UCL

heart looping

Inferred from sequence or structural similarity. Source: BHF-UCL

mesenchyme development

Inferred from electronic annotation. Source: Ensembl

mesoderm formation

Inferred from electronic annotation. Source: Ensembl

negative regulation of sequence-specific DNA binding transcription factor activity

Inferred from electronic annotation. Source: Ensembl

negative regulation of transcription from RNA polymerase II promoter

Inferred from direct assay PubMed 11802795. Source: BHF-UCL

negative regulation of transcription, DNA-templated

Inferred from direct assay PubMed 11802795. Source: BHF-UCL

odontogenesis of dentin-containing tooth

Inferred from electronic annotation. Source: Ensembl

positive regulation of transcription from RNA polymerase II promoter

Inferred from direct assay PubMed 16043483. Source: BHF-UCL

transcription from RNA polymerase II promoter

Inferred from direct assay PubMed 11802795. Source: BHF-UCL

trophectodermal cell differentiation

Inferred from expression pattern PubMed 11802795. Source: BHF-UCL

trophoblast giant cell differentiation

Inferred from electronic annotation. Source: Ensembl

ventricular cardiac muscle tissue morphogenesis

Inferred from mutant phenotype PubMed 18276607. Source: BHF-UCL

   Cellular_componentcytoplasm

Inferred from direct assay PubMed 11802795. Source: BHF-UCL

nucleolus

Inferred from electronic annotation. Source: UniProtKB-SubCell

nucleoplasm

Inferred from electronic annotation. Source: UniProtKB-SubCell

nucleus

Inferred from direct assay PubMed 11802795. Source: BHF-UCL

   Molecular_functionbHLH transcription factor binding

Inferred from physical interaction PubMed 11802795. Source: BHF-UCL

identical protein binding

Inferred from sequence or structural similarity. Source: BHF-UCL

protein binding

Inferred from physical interaction PubMed 16043483. Source: BHF-UCL

protein homodimerization activity

Non-traceable author statement PubMed 16043483. Source: BHF-UCL

sequence-specific DNA binding

Inferred from electronic annotation. Source: Ensembl

transcription coactivator activity

Inferred from direct assay PubMed 16043483. Source: BHF-UCL

transcription factor binding

Inferred from physical interaction PubMed 16043483. Source: BHF-UCL

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 215215Heart- and neural crest derivatives-expressed protein 1
PRO_0000127184

Regions

Domain94 – 14653bHLH
Compositional bias9 – 179Poly-His
Compositional bias64 – 718Poly-Ala

Amino acid modifications

Modified residue1071Phosphothreonine; by PLK4 By similarity
Modified residue1091Phosphoserine; by PLK4 By similarity

Sequences

Sequence LengthMass (Da)Tools
O96004 [UniParc].

Last modified May 1, 1999. Version 1.
Checksum: 7ED98EA081A8D6BA

FASTA21523,627
        10         20         30         40         50         60 
MNLVGSYAHH HHHHHPHPAH PMLHEPFLFG PASRCHQERP YFQSWLLSPA DAAPDFPAGG 

        70         80         90        100        110        120 
PPPAAAAAAT AYGPDARPGQ SPGRLEALGG RLGRRKGSGP KKERRRTESI NSAFAELREC 

       130        140        150        160        170        180 
IPNVPADTKL SKIKTLRLAT SYIAYLMDVL AKDAQSGDPE AFKAELKKAD GGRESKRKRE 

       190        200        210 
LQQHEGFPPA LGPVEKRIKG RTGWPQQVWA LELNQ 

« Hide

References

« Hide 'large scale' references
[1]"Molecular cloning of the human Hand1 gene/cDNA and its tissue-restricted expression in cytotrophoblastic cells and heart."
Knoefler M., Meinhardt G., Vasicek R., Husslein P., Egarter C.
Gene 224:77-86(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA].
Tissue: Heart.
[2]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Brain.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF063012 Genomic DNA. Translation: AAD19283.1.
AF061756 mRNA. Translation: AAD19280.1.
BC021190 mRNA. Translation: AAH21190.1.
CCDSCCDS4327.1.
RefSeqNP_004812.1. NM_004821.2.
UniGeneHs.152531.

3D structure databases

ProteinModelPortalO96004.
SMRO96004. Positions 102-150.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid114814. 6 interactions.
STRING9606.ENSP00000231121.

PTM databases

PhosphoSiteO96004.

Proteomic databases

PaxDbO96004.
PRIDEO96004.

Protocols and materials databases

DNASU9421.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000231121; ENSP00000231121; ENSG00000113196.
GeneID9421.
KEGGhsa:9421.
UCSCuc003lvn.3. human.

Organism-specific databases

CTD9421.
GeneCardsGC05M153834.
HGNCHGNC:4807. HAND1.
HPAHPA040925.
MIM602406. gene.
neXtProtNX_O96004.
PharmGKBPA29183.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG259520.
HOGENOMHOG000232082.
HOVERGENHBG051880.
InParanoidO96004.
KOK09071.
OMAAHPMLHE.
OrthoDBEOG7G1V82.
PhylomeDBO96004.
TreeFamTF315153.

Gene expression databases

BgeeO96004.
CleanExHS_HAND1.
GenevestigatorO96004.

Family and domain databases

Gene3D4.10.280.10. 1 hit.
InterProIPR011598. bHLH_dom.
[Graphical view]
PfamPF00010. HLH. 1 hit.
[Graphical view]
SMARTSM00353. HLH. 1 hit.
[Graphical view]
SUPFAMSSF47459. SSF47459. 1 hit.
PROSITEPS50888. BHLH. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiHAND1.
GenomeRNAi9421.
NextBio35290.
PROO96004.
SOURCESearch...

Entry information

Entry nameHAND1_HUMAN
AccessionPrimary (citable) accession number: O96004
Entry history
Integrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: May 1, 1999
Last modified: July 9, 2014
This is version 122 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 5

Human chromosome 5: entries, gene names and cross-references to MIM