HAND1

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, which are asymmetrically expressed in the developing ventricular chambers and play an essential role in cardiac morphogenesis. Working in a complementary fashion, they function in the formation of the right ventricle and aortic arch arteries, implicating them as mediators of congenital heart disease. In addition, it has been suggested that this transcription factor may be required for early trophoblast differentiation. [provided by RefSeq, Jul 2008]

Description

Heart and neural crest derivatives expressed 1

Tissue specificity

Tissue enhanced (heart muscle, intestine, smooth muscle)

Subcell location

Nucleoplasm, Nuclear membrane, Nuclear bodies

Predicted location

Intracellular

Protein family

Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Transcription factors

Chromosome

5 (154474972 - 154478227)

Ensembl ID

ENSG00000113196  (ver. 103.38)

Orthologs

Mouse Hand1: ENSMUSG00000037335

UniProt

O96004

neXtProt

NX_O96004

Human splice variants
Mouse splice variants

Protein structure