HAND1

HAND1
Identifiers
Aliases	HAND1, Hxt, Thing1, bHLHa27, eHand, heart and neural crest derivatives expressed 1
External IDs	OMIM: 602406 MGI: 103577 HomoloGene: 3545 GeneCards: HAND1
Gene location (Human)
Chr.	Chromosome 5 (human)
End	154,478,227 bp
Gene location (Mouse)
Chr.	Chromosome 11 (mouse)
End	57,723,644 bp
RNA expression pattern
	Top expressed in
	left ventricle; ; amniotic fluid; ; right ventricle; ; myocardium; ; appendix; ; transverse colon; ; smooth muscle tissue; ; tibialis anterior muscle; ; urinary bladder; ; gallbladder;
	Top expressed in
	yolk sac; ; thoracic ganglia; ; placenta; ; morula; ; urethra; ; male urethra; ; amnion; ; enteric nervous system; ; abdominal wall; ; atrioventricular canal;
	More reference expression data
	More reference expression data
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 cis-regulatory region sequence-specific DNA binding; DNA-binding transcription repressor activity, RNA polymerase II-specific; bHLH transcription factor binding; protein binding; identical protein binding; protein heterodimerization activity; enzyme binding; DNA-binding transcription factor activity, RNA polymerase II-specific;
Cellular component	cytoplasm; nucleoplasm; RNA polymerase II transcription regulator 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 by RNA polymerase II; embryonic heart tube formation; transcription by RNA polymerase II; negative regulation of 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 by RNA polymerase II;
	Sources:Amigo / QuickGO
Orthologs
	9421
	15110
	ENSG00000113196
	ENSMUSG00000037335
	O96004
	Q64279
	NM_004821
	NM_008213
	NP_004812
	NP_032239
	Wikidata
View/Edit Human	View/Edit Mouse

Heart- and neural crest derivatives-expressed protein 1 is a protein that in humans is encoded by the HAND1 gene.

A member of the HAND subclass of basic Helix-loop-helix (bHLH) transcription factors, the Heart and neural crest-derived transcript-1 (HAND1) gene is vital for the development and differentiation of three distinct embryological lineages including the cardiac muscle cells of the heart, trophoblast of the placenta, and yolk sac vasculogenesis. Most highly related to twist-like bHLH genes in amino acid identity and embryonic expression, HAND1 can form homo- and heterodimer combinations with multiple bHLH partners, mediating transcriptional activity in the nucleus.

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