HAND1: Heart and Neural Crest Derivatives Expressed 1
A basic helix-loop-helix transcription factor critical for cardiac development and trophoblast differentiation.
Gene Information Card
| Symbol | HAND1 |
|---|---|
| Full Name | Heart and neural crest derivatives expressed 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 5q33.2 |
| NCBI Gene ID | 9421 ncbi.nlm.nih.gov/gene/9421 |
| Ensembl ID | ENSG00000113196 |
| UniProt ID | O96004 |
| OMIM ID | 602406 |
| HGNC ID | 4807 |
| Aliases | bHLHa27, eHand, Hxt, Thing1 |
Description
HAND1 encodes a basic helix-loop-helix (bHLH) transcription factor that plays essential roles in cardiac morphogenesis, particularly in the formation of the left ventricle and outflow tract, as well as in trophoblast giant cell differentiation during placental development. It forms heterodimers with other bHLH proteins such as TCF3 to regulate gene expression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital heart disease (e.g., left ventricular hypoplasia) | Loss-of-function mutations impair cardiac progenitor cell differentiation and ventricular chamber formation. | ClinVar, OMIM |
| Hypertrophic cardiomyopathy | Altered HAND1 expression disrupts sarcomere organization and cardiac hypertrophy signaling. | NCBI Gene, OMIM |
| Preeclampsia | Reduced HAND1 expression in trophoblasts leads to impaired spiral artery remodeling and placental insufficiency. | UniProt, NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Placenta | 8.3 | Low |
| Skeletal muscle | 3.1 | Not detected |
| Lung | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| H9c2 (rat cardiomyoblasts) | 15.0 | Model for cardiac differentiation |
| BeWo (human trophoblast) | 10.5 | Placental trophoblast model |
| HEK293 | 0.5 | Low endogenous expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.428G>A (p.Arg143Gln) | Missense | <0.01% | Reduced DNA binding and transcriptional activity |
| c.1A>G (p.Met1?) | Start loss | <0.01% | Loss of protein expression |
| c.316C>T (p.Arg106*) | Nonsense | <0.01% | Premature truncation, loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense and nonsense mutations that impair DNA binding or protein stability, leading to reduced transcriptional activation of cardiac and trophoblast target genes.
Gain of Function (GOF)
Not reported in HAND1.
Dominant Negative (DN)
Some missense variants (e.g., p.Arg143Gln) may act in a dominant-negative manner by forming nonfunctional heterodimers with wild-type bHLH partners.
View complete mutation data：
Gene Ontology (GO)
| • DNA-binding transcription factor activity | • RNA polymerase II cis-regulatory region sequence-specific DNA binding |
| • cardiac ventricle development | • trophoblast giant cell differentiation |
| • heart looping | • outflow tract morphogenesis |
Pathways
• Cardiac progenitor differentiation
• Trophoblast giant cell differentiation
• bHLH transcription factor network
Protein Summary
HAND1 is a 215-amino acid bHLH transcription factor that localizes to the nucleus and binds E-box sequences (CANNTG) as a heterodimer. It is essential for left ventricular development and trophoblast giant cell formation. The protein contains a basic DNA-binding domain and a helix-loop-helix dimerization domain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HAND1 Knockout HEK293 Cell Line | EDJ-KQ6583 | Human | 9421 | Details Get a Quote |
| HAND1 Knockout HeLa Cell Line | EDJ-KQ55160 | Human | 9421 | Details Get a Quote |
| HAND1 Knockout A-549 Cell Line | EDJ-KQ63640 | Human | 9421 | Details Get a Quote |
| HAND1 Knockout HCT 116 Cell Line | EDJ-KQ72102 | Human | 9421 | Details Get a Quote |
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