HAND1 heart and neural crest derivatives expressed 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: HAND1provided by HGNC
Official Full Name: heart and neural crest derivatives expressed 1provided by HGNC
Primary source: HGNC:HGNC:4807
See related: Ensembl:ENSG00000113196 MIM:602406; AllianceGenome:HGNC:4807
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: Hxt; eHand; Thing1; bHLHa27
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]
Expression: Biased expression in heart (RPKM 3.2), adrenal (RPKM 2.4) and 5 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5q33.2

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (154474972..154478227, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (155008931..155012186, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (153854532..153857787, complement)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Novel and deleterious nucleotide variations in the HAND1 gene probably affect miRNA target sites and protein function in pediatric patients with congenital heart disease.
Title: Novel and deleterious nucleotide variations in the HAND1 gene probably affect miRNA target sites and protein function in pediatric patients with congenital heart disease.
HAND1 knockdown disrupts trophoblast global gene expression.
Title: HAND1 knockdown disrupts trophoblast global gene expression.
Human HAND1 inhibits the conversion of cholesterol to steroids in trophoblasts.
Title: Human HAND1 inhibits the conversion of cholesterol to steroids in trophoblasts.
Expression dynamics of HAND1/2 in in vitro human cardiomyocyte differentiation.
Title: Expression dynamics of HAND1/2 in in vitro human cardiomyocyte differentiation.
HAND1 and BARX1 Act as Transcriptional and Anatomic Determinants of Malignancy in Gastrointestinal Stromal Tumor.
Title: HAND1 and BARX1 Act as Transcriptional and Anatomic Determinants of Malignancy in Gastrointestinal Stromal Tumor.
Strikingly, human pluripotent stem cell antibody array showed that Hand1 overexpression resulted in substantial decrease in pluripotency markers (Nanog, Oct3/4, Otx2, Flk1) suggesting that Hand1 expression may be essential to attenuate the EMT and our findings underscore a novel role for Hand1 in medulloblastoma metastasis.
Title: Hand1 overexpression inhibits medulloblastoma metastasis.
association of HAND1 loss-of-function mutation with increased susceptibility to Tetralogy of Fallot
Title: HAND1 Loss-of-Function Mutation Causes Tetralogy of Fallot.
These findings expand the phenotypic spectrum linked to HAND1 mutations, suggesting potential implications for the development of novelo prophylactic and therapeutic strategies for DORV.
Title: HAND1 loss-of-function mutation contributes to congenital double outlet right ventricle.
HAND1 loss-of-function mutation is associated with familial dilated cardiomyopathy.
Title: HAND1 loss-of-function mutation associated with familial dilated cardiomyopathy.
Combined expression of NKX2-5, HAND1, and NOTCH1 coordinately contribute to cardiac malformations in Hhypoplastic left heart syndrome.
Title: Directed differentiation of patient-specific induced pluripotent stem cells identifies the transcriptional repression and epigenetic modification of NKX2-5, HAND1, and NOTCH1 in hypoplastic left heart syndrome.

Submit: New GeneRIF Correction See all GeneRIFs (26)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Identification of three novel genetic variations associated with electrocardiographic traits (QRS duration and PR interval) in East Asians. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G62348 (e-PCR)
- UniSTS:139326

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

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription activator activity, RNA polymerase II-specific	ISS Inferred from Sequence or Structural Similarity more info
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	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
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	IPI Inferred from Physical Interaction more info	PubMed
enables bHLH transcription factor binding	IEA Inferred from Electronic Annotation more info
enables bHLH transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed
enables enzyme binding	IEA Inferred from Electronic Annotation more info
enables identical protein binding	IEA Inferred from Electronic Annotation more info
enables identical protein binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein dimerization activity	IEA Inferred from Electronic Annotation more info
enables protein homodimerization activity	IEA Inferred from Electronic Annotation more info
enables sequence-specific DNA binding	IEA Inferred from Electronic Annotation more info
contributes_to transcription cis-regulatory region binding	IDA Inferred from Direct Assay more info	PubMed
enables transcription coregulator binding	IEA Inferred from Electronic Annotation more info
enables transcription coregulator binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within angiogenesis	IEA Inferred from Electronic Annotation more info
involved_in angiogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in blastocyst development	IEP Inferred from Expression Pattern more info	PubMed
involved_in cardiac left ventricle formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cardiac right ventricle formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cardiac septum morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cartilage morphogenesis	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within cell differentiation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within determination of heart left/right asymmetry	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within embryonic heart tube development	IEA Inferred from Electronic Annotation more info
involved_in embryonic heart tube development	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within embryonic heart tube formation	IEA Inferred from Electronic Annotation more info
involved_in heart development	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within heart development	IEA Inferred from Electronic Annotation more info
involved_in heart development	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within heart looping	IEA Inferred from Electronic Annotation more info
involved_in heart looping	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within in utero embryonic development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within mesenchyme development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within mesoderm formation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within negative regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within odontogenesis of dentin-containing tooth	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation 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	IEP Inferred from Expression Pattern more info	PubMed
acts_upstream_of_or_within trophoblast giant cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in trophoblast giant cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within ventricular cardiac muscle tissue morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in ventricular cardiac muscle tissue morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of RNA polymerase II transcription regulator complex	IDA Inferred from Direct Assay more info	PubMed
located_in chromatin	ISA Inferred from Sequence Alignment more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in nucleolus	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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

Names: class A basic helix-loop-helix protein 27; extraembryonic tissues, heart, autonomic nervous system and neural crest derivatives-expressed protein 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.

Genomic

NG_052889.1 RefSeqGene

Range

5038..8293

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_004821.3 → NP_004812.1 heart- and neural crest derivatives-expressed protein 1

See identical proteins and their annotated locations for NP_004812.1

Status: REVIEWED

Source sequence(s)

AF061756

Consensus CDS

CCDS4327.1

UniProtKB/Swiss-Prot

O96004

Related

ENSP00000231121.2, ENST00000231121.3

Conserved Domains (1) summary

cd18952
Location:94 → 153

bHLH_TS_HAND1; basic helix-loop-helix (bHLH) domain found in heart- and neural crest derivatives-expressed protein 1 (HAND1) and similar proteins

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000005.10 Reference GRCh38.p14 Primary Assembly

Range

154474972..154478227 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005268531.2 → XP_005268588.1 heart- and neural crest derivatives-expressed protein 1 isoform X1

Conserved Domains (2) summary

smart00353
Location:103 → 152

HLH; helix loop helix domain

pfam02745
Location:147 → 185

MCR_alpha_N; Methyl-coenzyme M reductase alpha subunit, N-terminal domain