HAND1 - heart and neural crest derivatives expressed 1 Gene

Homo sapiens

Also known as Hxt; eHand; Thing1; bHLHa27

Gene ID: 9421 | Gene type: protein coding

About HAND1

Cytogenetic location: 5q33.2 Genomic coordinates (GRCh38): 5:154,474,972-154,478,227 (from NCBI)

This gene has 1 transcript (splice variant), 202 orthologues and 13 paralogues. Biased expression in heart (RPKM 3.2), adrenal (RPKM 2.4) and 5 other tissues.

Summary

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]

HAND1 Products(1)

mRNA	Protein	Name
NM_004821.3	NP_004812.1	heart- and neural crest derivatives-expressed protein 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	16043483	GOA
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	11802795	GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA IDA: Inferred from direct assay	11802795	GOA
enables RNA polymerase II-specific DNA-binding transcription factor binding	IPI IPI: Inferred from physical interaction	16043483	GOA
enables bHLH transcription factor binding	IPI IPI: Inferred from physical interaction	11802795	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16043483	GOA
contributes to transcription cis-regulatory region binding	IDA IDA: Inferred from direct assay	11802795	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in blastocyst development	IEP IEP: Inferred from expression pattern	11802795	GOA
involved in cardiac left ventricle formation	IMP IMP: Inferred from mutant phenotype	18276607	GOA
involved in cardiac right ventricle formation	IMP IMP: Inferred from mutant phenotype	18276607	GOA
involved in cardiac septum morphogenesis	IMP IMP: Inferred from mutant phenotype	19586923	GOA
involved in negative regulation of DNA-binding transcription factor activity	IDA IDA: Inferred from direct assay	11802795	GOA
involved in negative regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	11802795	GOA
involved in negative regulation of RNA polymerase II regulatory region sequence-specific DNA binding	IDA IDA: Inferred from direct assay	11802795	GOA
involved in negative regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	11802795	GOA
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	11802795	GOA
involved in trophectodermal cell differentiation	IEP IEP: Inferred from expression pattern	11802795	GOA
involved in ventricular cardiac muscle tissue morphogenesis	IMP IMP: Inferred from mutant phenotype	18276607	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of RNA polymerase II transcription regulator complex	IDA IDA: Inferred from direct assay	11802795	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	11802795	GOA
located in nucleus	IDA IDA: Inferred from direct assay	11802795	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

HAND1 Protein Structure

HLH

0
100
200
215 a.a.

Protein Preferred Names

Protein Names

heart- and neural crest derivatives-expressed protein 1

class A basic helix-loop-helix protein 27

Related Diseases

Diseases

Alias

Hypoplastic Left Heart Syndrome

Hlhs	Heart, Hypoplastic Left, Syndrome
Hypoplasia Of The Left Heart	Left Heart Hypoplasia Syndrome
Hlhs - [Hypoplastic Left Heart Syndrome]	Hypoplasia Of Aortic Valve, In Hypoplastic Left Heart Syndrome
Atresia Of Mitral Valve, In Hypoplastic Left Heart Syndrome	Atresia Or Marked Hypoplasia Of Aortic Orifice Or Valve, With Hypoplasia Of Ascending Aorta And Defective Development Of Left Ventricle
Atresia Or Marked Hypoplasia, Of Aortic Orifice Or Valve, With Hypoplasia Of Ascending Aorta And Defective Development Of Left Ventricle With Mitral Valve Atresia	Aortic Valve Atresia, In Hypoplastic Left Heart Syndrome
Ascending Aorta Hypoplasia, In Hypoplastic Left Heart Syndrome

Double Outlet Right Ventricle

Double Outlet Right Ventricle With Subpulmonary Ventricular Septal Defect	Taussig-Bing Syndrome
Dextrotransposition Of Aorta	Taussig-Bing Syndrome Or Defect
Dorv	Dorv With Subpulmonary Vsd
Dorv-Tga	Double Outlet Right Ventricle With Transposition Of The Great Arteries
Double Outlet Right Ventricle With Subpulmonary Interventricular Communication, Transposition Type	Taussig-Bing Heart
Taussig-Bing Malformation	Taussig-Bing Complex
Taussig-Bing Defect	Taussig-Bing
Double Outlet Right Ventricle With Remote Ventricular Septal Defect	Double Outlet Right Ventricle With Uncommitted Ventricular Septal Defect
Double Outlet Right Ventricle With Non-Committed Interventricular Communication	Double Outlet Right Ventricle With Subaortic Or Doubly Committed Interventricular Communication Without Pulmonary Stenosis
Double Outlet Right Ventricle With Subaortic Or Doubly Committed Interventricular Communication And Pulmonary Stenosis

Heart Disease

Heart Failure	Congenital Heart Disease
Heart Diseases	Congenital Heart Defects
Congenital Heart Defect	Heart Malformation
Congenital Anomaly Of Heart	Heart Defect
Heart-Congenital Defect	Congenital Heart Disorder
Heart Defects Congenital	Heart Defects, Congenital
Heart Defects	Heart Disease, Congenital
Disease, Heart, Congenital	Congestive Heart Failure

Tetralogy Of Fallot

TOF	Fallot Tetralogy
Ventricular Septal Defect With Pulmonary Stenosis Or Atresia, Dextraposition Of Aorta, And Hypertrophy Of Right Ventricle	Tetrad Of Fallot
Fallot Tetrad	Fallot Disease
Fallot Complex	Subpulmonic Stenosis, Ventricular Septal Defect, Overriding Aorta, And Right Ventricular Hypertrophy
Interventricular Septal Defect With Dextroposition Of Aorta, Pulmonary Stenosis And Hypertrophy Of Right Ventricle	Interventricular Septal Defect, In Tetralogy Of Fallot
Ventricular Septal Defect With Obstructed Right Ventricular Outflow	Tof - [Tetralogy Of Fallot]
Pulmonary Atresia With Ventricular Septal Defect [Fallot Type]	Pulmonary Atresia, Ventricular Septal Defect And Mapcas
Pulmonary Atresia With Ventricular Septal Defect And Systemic-To-Pulmonary Collateral Arteries [Fallot Type]

Tricuspid Valve Stenosis

Tricuspid Stenosis	Tricuspid Stricture
Tricuspid Valve Stricture	Tricuspid Insufficiency With Obstruction
Tricuspid Insufficiency With Stenosis

Acute Hemorrhagic Conjunctivitis

Viral Conjunctivitis	Conjunctivitis, Acute Hemorrhagic
Apollo Disease	Epidemic Hemorrhagic Conjunctivitis
Viral Conjunctiva Disorder	Viral Conjunctivitis Nos

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05996	HAND1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	HAND1	RGD	RGD:621206
Felis catus	HAND1	VGNC	VGNC:67535
Macaca mulatta	HAND1	VGNC	VGNC:73345
Canis familiaris	HAND1	VGNC	VGNC:41589
Mus musculus	HAND1	MGD	MGI:103577
Bos taurus	HAND1	VGNC	VGNC:29746

Name
Email *

	Sorry, but the email address you supplied was invalid.