Hand1 heart and neural crest derivatives expressed 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Hand1provided by MGI
Official Full Name: heart and neural crest derivatives expressed 1provided by MGI
Primary source: MGI:MGI:103577
See related: Ensembl:ENSMUSG00000037335 AllianceGenome:MGI:103577
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Hxt; Th1; eHAND; Ehand1; Thing1; bHLHa27
Summary: Enables several functions, including DNA-binding transcription activator activity, RNA polymerase II-specific; bHLH transcription factor binding activity; and protein homodimerization activity. Involved in negative regulation of transcription by RNA polymerase II and positive regulation of transcription by RNA polymerase II. Acts upstream of or within several processes, including circulatory system development; negative regulation of DNA-binding transcription factor activity; and trophoblast giant cell differentiation. Located in nucleolus and nucleoplasm. Is expressed in several structures, including alimentary system; early conceptus; heart and pericardium; nervous system; and urinary system. Orthologous to human HAND1 (heart and neural crest derivatives expressed 1). [provided by Alliance of Genome Resources, Oct 2024]
Expression: Biased expression in placenta adult (RPKM 62.0), adrenal adult (RPKM 9.9) and 3 other tissues See more
Orthologs: human all
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Genomic context

Location:: 11 B1.3; 11 35.27 cM

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (57719539..57722973, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (57828713..57832147, complement)

Chromosome 11 - NC_000077.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Adgrg1 is a new transcriptional target of Hand1 during trophoblast giant cell differentiation.
Title: Adgrg1 is a new transcriptional target of Hand1 during trophoblast giant cell differentiation.
Bmp Signaling Regulates Hand1 in a Dose-Dependent Manner during Heart Development.
Title: Bmp Signaling Regulates Hand1 in a Dose-Dependent Manner during Heart Development.
Conditional Mutation of Hand1 in the Mouse Placenta Disrupts Placental Vascular Development Resulting in Fetal Loss in Both Early and Late Pregnancy.
Title: Conditional Mutation of Hand1 in the Mouse Placenta Disrupts Placental Vascular Development Resulting in Fetal Loss in Both Early and Late Pregnancy.
HAND transcription factors cooperatively specify the aorta and pulmonary trunk.
Title: HAND transcription factors cooperatively specify the aorta and pulmonary trunk.
The Transcription Factor HAND1 Is Involved in Cortical Bone Mass through the Regulation of Collagen Expression.
Title: The Transcription Factor HAND1 Is Involved in Cortical Bone Mass through the Regulation of Collagen Expression.
HAND1 loss-of-function within the embryonic myocardium reveals survivable congenital cardiac defects and adult heart failure.
Title: HAND1 loss-of-function within the embryonic myocardium reveals survivable congenital cardiac defects and adult heart failure.
An SNP in HAND1 impairs the binding to GATA4, which results in a disruption in the development of the heart conduction system.
Title: Variation in a Left Ventricle-Specific Hand1 Enhancer Impairs GATA Transcription Factor Binding and Disrupts Conduction System Development and Function.
Somatically acquired Hand1A126FS mutation is not causative of hypoplastic left heart syndrome
Title: The HAND1 frameshift A126FS mutation does not cause hypoplastic left heart syndrome in mice.
a non-essential role for Hand1 in mouse limb morphogenesis, is reported.
Title: Defective Hand1 phosphoregulation uncovers essential roles for Hand1 in limb morphogenesis.
Surviving Hand1;Hand2 mutants display diminished cardiac function that is rescued by concurrent ablation of Hand-null cardiomyocytes. Collectively, we conclude that, within a mixed cardiomyocyte population, removal of defective myocardium and replacement with healthy endogenous cardiomyocytes may provide an effective strategy for cardiac repair.
Title: Hand factor ablation causes defective left ventricular chamber development and compromised adult cardiac function.

Submit: New GeneRIF Correction See all GeneRIFs (40)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (3) 1 citation
Targeted (12) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Hand1 (e-PCR), detects polymorphism
- UniSTS:532237

Hand1 (e-PCR), detects polymorphism
- UniSTS:531471

NoName (e-PCR)
- UniSTS:548404

Hand1 (e-PCR), detects polymorphism
- UniSTS:238133

Hand1 (e-PCR), detects polymorphism
- UniSTS:531528

Hand1 (e-PCR), detects polymorphism
- UniSTS:506967

Hand1 (e-PCR), detects polymorphism
- UniSTS:508552

Hand1 (e-PCR), detects polymorphism
- UniSTS:143313

Hand1 (e-PCR), detects polymorphism
- UniSTS:478955

U21226 (e-PCR)
- UniSTS:125694

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IGI Inferred from Genetic Interaction more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISO Inferred from Sequence Orthology more info
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	ISO Inferred from Sequence Orthology more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA Inferred from Electronic Annotation more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	ISO Inferred from Sequence Orthology more info
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II-specific DNA-binding transcription factor binding	IEA Inferred from Electronic Annotation more info
enables RNA polymerase II-specific DNA-binding transcription factor binding	ISO Inferred from Sequence Orthology more info
enables bHLH transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed
enables bHLH transcription factor binding	ISO Inferred from Sequence Orthology more info
enables enzyme binding	IPI Inferred from Physical Interaction more info	PubMed
enables identical protein binding	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific DNA binding	IGI Inferred from Genetic Interaction more info	PubMed
contributes_to transcription cis-regulatory region binding	ISO Inferred from Sequence Orthology more info
enables transcription coregulator binding	IPI Inferred from Physical Interaction more info	PubMed
enables transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within angiogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cardiac left ventricle formation	IEA Inferred from Electronic Annotation more info
involved_in cardiac left ventricle formation	ISO Inferred from Sequence Orthology more info
involved_in cardiac right ventricle formation	IEA Inferred from Electronic Annotation more info
involved_in cardiac right ventricle formation	ISO Inferred from Sequence Orthology more info
involved_in cardiac septum morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in cardiac septum morphogenesis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cartilage morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within cell differentiation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in cell fate determination	NAS Non-traceable Author Statement more info	PubMed
acts_upstream_of_or_within determination of heart left/right asymmetry	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic heart tube development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic heart tube formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in heart development	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within heart development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within heart development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within heart looping	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in heart morphogenesis	NAS Non-traceable Author Statement more info	PubMed
involved_in heart morphogenesis	TAS Traceable Author Statement more info	PubMed
acts_upstream_of_or_within in utero embryonic development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within mesenchyme development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within mesoderm formation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of DNA-binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of DNA-binding transcription factor activity	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of DNA-binding transcription factor activity	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of RNA polymerase II regulatory region sequence-specific DNA binding	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of transcription by RNA polymerase II	IGI Inferred from Genetic Interaction more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IGI Inferred from Genetic Interaction more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within odontogenesis of dentin-containing tooth	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in trophectodermal cell differentiation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within trophoblast giant cell differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in trophoblast giant cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within ventricular cardiac muscle tissue morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ventricular cardiac muscle tissue morphogenesis	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
part_of RNA polymerase II transcription regulator complex	IEA Inferred from Electronic Annotation more info
part_of RNA polymerase II transcription regulator complex	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleolus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: heart- and neural crest derivatives-expressed protein 1

Names: extraembryonic tissues, heart, autonomic nervous system and neural crest derivatives-expressed protein 1; heart and neural crest derivatives expressed transcript 1; helix-loop-helix transcription factor expressed in extraembryonic mesoderm and trophoblast; thing-1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.