HAND1 Human

Heart and Neural Crest Derivatives Expressed 1 Human Recombinant
Cat. No.
BT14239
Source
E.coli.
Synonyms
Heart- And Neural Crest Derivatives-Expressed Protein 1, Extraembryonic Tissues Heart Autonomic Nervous System And Neural Crest Derivatives-Expressed Protein 1, Class A Basic Helix-Loop-Helix Protein 27, BHLHa27, EHAND, Thing1, Hxt.
Appearance
Sterile Filtered colorless solution.
Purity
Greater than 90% as determined by SDS-PAGE.
Usage
THE BioTek's products are furnished for LABORATORY RESEARCH USE ONLY. The product may not be used as drugs, agricultural or pesticidal products, food additives or household chemicals.
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Description

HAND1 Human Recombinant produced in E. coli is a single polypeptide chain containing 238 amino acids (1-215) and having a molecular mass of 26.0 kDa.
HAND1 is fused to a 23 amino acid His-tag at N-terminus & purified by proprietary chromatographic techniques.

Product Specs

Introduction
HAND1, a member of the basic helix-loop-helix family of transcription factors, plays a crucial role in cardiac morphogenesis. As one of the two HAND proteins, it exhibits irregular expression in developing ventricular chambers and, alongside its close relative, contributes significantly to the formation of the right ventricle and aortic arch arteries. Their complementary functions highlight their importance in preventing congenital heart disease. Furthermore, HAND1 is essential for the early differentiation of trophoblasts.
Description
HAND1 Human Recombinant, a single polypeptide chain produced in E. coli, consists of 238 amino acids (1-215) and has a molecular weight of 26.0 kDa. For purification purposes, a 23 amino acid His-tag is fused to the N-terminus, followed by proprietary chromatographic techniques.
Physical Appearance
Clear, colorless solution, sterilized by filtration.
Formulation
The HAND1 solution is provided at a concentration of 1mg/ml and contains 20mM Tris-HCl buffer (pH 8.0), 0.4M urea, and 10% glycerol.
Stability
For short-term storage (2-4 weeks), keep at 4°C. For extended periods, freeze at -20°C. Adding a carrier protein like 0.1% HSA or BSA is recommended for long-term storage. Repeated freezing and thawing should be avoided.
Purity
SDS-PAGE analysis indicates a purity greater than 90%.
Synonyms
Heart- And Neural Crest Derivatives-Expressed Protein 1, Extraembryonic Tissues Heart Autonomic Nervous System And Neural Crest Derivatives-Expressed Protein 1, Class A Basic Helix-Loop-Helix Protein 27, BHLHa27, EHAND, Thing1, Hxt.
Source
E.coli.
Amino Acid Sequence
MGSSHHHHHH SSGLVPRGSH MGSMNLVGSY AHHHHHHHPH PAHPMLHEPF LFGPASRCHQ ERPYFQSWLL SPADAAPDFP AGGPPPAAAA AATAYGPDAR PGQSPGRLEA LGGRLGRRKG SGPKKERRRT ESINSAFAEL RECIPNVPAD TKLSKIKTLR LATSYIAYLM DVLAKDAQSG DPEAFKAELK KADGGRESKR KRELQQHEGF PPALGPVEKR IKGRTGWPQQ VWALELNQ

Product Science Overview

Gene and Protein Structure

The HAND1 gene is located on chromosome 5q33.2 and consists of two exons spanning approximately 3.3 kilobases . The protein encoded by this gene is composed of 215 amino acids and contains a bHLH region, which is essential for its function as a transcription factor . The HAND1 protein has several potential phosphorylation sites, indicating that it may undergo post-translational modifications .

Expression and Function

HAND1 is asymmetrically expressed in the developing ventricular chambers of the heart and plays a vital role in cardiac morphogenesis . It is involved in the formation of the right ventricle and aortic arch arteries, making it a key player in the development of congenital heart diseases . Additionally, HAND1 is expressed in extraembryonic membranes and certain neural crest derivatives .

In the adult heart, HAND1 is required for the ongoing expression of cardiac-specific genes . It binds to the DNA sequence 5’-NRTCTG-3’ (non-canonical E-box) and acts as a transcriptional repressor of SOX15 . HAND1 also stimulates the transcriptional activity of E12/E47 through degenerate E-boxes or inhibits their activity through perfect E-boxes .

Clinical Significance

Mutations in the HAND1 gene have been associated with various congenital heart defects, including atrial septal defect 5 and atrial heart septal defect . A frameshift mutation in the bHLH domain of HAND1 has been identified in patients with hypoplastic hearts, further highlighting its importance in cardiac development .

Research and Applications

The recombinant form of HAND1 is used in various research applications to study its role in cardiac development and congenital heart diseases. Understanding the function and regulation of HAND1 can provide insights into the molecular mechanisms underlying heart development and potential therapeutic targets for congenital heart defects.

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