HAND1

HAND1
Identifiers
Aliases	HAND1, Hxt, Thing1, bHLHa27, eHand, heart and neural crest derivatives expressed 1
External IDs	MGI: 103577 HomoloGene: 3545 GeneCards: HAND1
Gene ontology Molecular function • DNA binding • sequence-specific DNA binding • protein dimerization activity • protein homodimerization activity • transcription corepressor activity • transcription coactivator activity • transcription factor binding • RNA polymerase II core promoter proximal region sequence-specific DNA binding • transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding • bHLH transcription factor binding • protein binding • identical protein binding • protein heterodimerization activity • enzyme binding • transcription regulatory region DNA binding Cellular component • cytoplasm • nucleoplasm • RNA polymerase II transcription factor complex • nucleolus • nucleus Biological process • trophoblast giant cell differentiation • cell differentiation • determination of heart left/right asymmetry • regulation of transcription, DNA-templated • cardiac septum morphogenesis • cardiac left ventricle formation • cardiac right ventricle formation • mesenchyme development • mesoderm formation • in utero embryonic development • negative regulation of transcription from RNA polymerase II promoter • embryonic heart tube formation • transcription from RNA polymerase II promoter • negative regulation of sequence-specific DNA binding transcription factor activity • transcription, DNA-templated • embryonic heart tube development • multicellular organism development • heart looping • odontogenesis of dentin-containing tooth • ventricular cardiac muscle tissue morphogenesis • positive regulation of transcription, DNA-templated • heart development • negative regulation of RNA polymerase II regulatory region sequence-specific DNA binding • trophectodermal cell differentiation • angiogenesis • cartilage morphogenesis • negative regulation of transcription, DNA-templated • blastocyst development • positive regulation of transcription from RNA polymerase II promoter Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	9421	15110
Ensembl	ENSG00000113196	ENSMUSG00000037335
UniProt	O96004	Q64279
RefSeq (mRNA)	NM_004821	NM_008213
RefSeq (protein)	NP_004812.1	NP_032239.1
Location (UCSC)	Chr 5: 154.47 – 154.48 Mb	Chr 11: 57.83 – 57.83 Mb
PubMed search	[1]	[2]
Wikidata

Heart- and neural crest derivatives-expressed protein 1 is a protein that in humans is encoded by the HAND1 gene.^[3][4][5]

Function

The protein encoded by this gene belongs to the basic helix-loop-helix family of transcription factors. This gene product is one of two closely related family members, the HAND proteins are expressed within the developing ventricular chambers, cardiac neural crest, endocardium (HAND2 only) and epicardium (HAND2 only) . HAND1 is expressed with myocardium of the primary heart field and plays an essential but poorly understood role in cardiac morphogenesis.

HAND1 works jointly with HAND2 in cardiac development of embryos based on a crucial HAND gene dosage system. If HAND1 is over or under expressed then morphological abnormalities can form; most notable are cleft lips and palates. Expression was modeled with a knock-in of phosphorylation to turn on and off gene expression which induced the craniofacial abnormalities.^[6] Knock-out experimentation on mice caused death and severe cardiac malformations such as failed cardiac looping, impaired ventricular development and defective chamber septation. This aids in the implication that HAND1 expression is a factor to patients suffering from congenital heart disease.^[7] However, a lack of HAND1 in the distal regions of the Neural Crest has no effect on cranial feature formation.^[6] Mutation of HAND1 has been shown to hinder the effect of GATA4, another vital cardiac transcription factor, and is associated with congenital heart disease.^[8] The lack of HAND1 detection in the developing embryo leads to many of the structural defects that causes heart disease and facial deformities while the dosage of HAND1 relates to the severity of these maladies.^[6]

HAND factors function in the formation of the right ventricle, left ventricle, aortic arch arteries, epicardium, and endocardium implicating them as mediators of congenital heart disease. In addition, HAND1 is uniquely expressed in trophoblasts and is essential for early trophoblast differentiation.^[5]

References

Further reading

External links

• HAND1 protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)

This article incorporates text from the United States National Library of Medicine, which is in the public domain.