country

Change Language

EN - English
FR - Français
DE - Deutsch
ES - Español
JA - 日本語
KO - 한국어

Product Name	Size / Unit Price	Qty

Total: USD 0.00 Checkout

HAND1 - heart and neural crest derivatives expressed 1 Gene

Also Known as Hxt; eHand; Thing1; bHLHa27

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 9421

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	References	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	References	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	References	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

HAND1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	HAND1	O96004	DMWD	Homo sapiens	G5E9A7	Validated Y2H	32814053
Intra	HAND1	O96004	DMWD	Homo sapiens	G5E9A7	Y2H Array	32814053
Intra	HAND1	O96004	DMWD	Homo sapiens	G5E9A7	Y2H Pooling	32814053
Intra	HAND1	O96004	TCF12	Homo sapiens	Q99081-3	Y2H Prey Pooling	32296183
Intra	HAND1	O96004	TCF12	Homo sapiens	Q99081-3	Validated Y2H	32296183
Intra	HAND1	O96004	TCF12	Homo sapiens	Q99081-3	Y2H Array	32296183
Intra	HAND1	O96004	TCF3	Homo sapiens	P15923-3	Y2H Prey Pooling	32296183
Intra	HAND1	O96004	TCF3	Homo sapiens	P15923-3	Validated Y2H	32296183
Intra	HAND1	O96004	TCF3	Homo sapiens	P15923-3	Y2H Array	32296183
Intra	HAND1	O96004	KRTAP10-6	Homo sapiens	P60371	Y2H Prey Pooling	32296183
Intra	HAND1	O96004	KRTAP10-6	Homo sapiens	P60371	Validated Y2H	32296183
Intra	HAND1	O96004	KRTAP10-6	Homo sapiens	P60371	Y2H Array	32296183
Intra	HAND1	O96004	PMP22	Homo sapiens	A0A6Q8PF08	Validated Y2H	32814053
Intra	HAND1	O96004	PMP22	Homo sapiens	A0A6Q8PF08	Y2H Array	32814053
Intra	HAND1	O96004	PMP22	Homo sapiens	A0A6Q8PF08	Y2H Pooling	32814053
Intra	HAND1	O96004	SPRED1	Homo sapiens	Q7Z699	Y2H Pooling	32814053
Intra	HAND1	O96004	SPRED1	Homo sapiens	Q7Z699	Validated Y2H	32814053
Intra	HAND1	O96004	SPRED1	Homo sapiens	Q7Z699	Y2H Array	32814053

Cross: Cross-species interaction Intra: Intraspecies interaction

HAND1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P810325	HAND1 Antibody	WB, ICC/IF, ELISA	Human, Mouse, Rat
HY-P85195	HAND1 Antibody (YA4887)	FC, ELISA	Human
HY-P85195A	HAND1 Antibody (YA4887)(PBS only)	FC, ELISA	Human

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

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05996	HAND1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-181888	GRL-142	Inhibitor	/	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
Others	HAND1	NCBI