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

Gene ID: 9421, updated on 3-Jun-2018
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; Vega:OTTHUMG00000130193
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
See HAND1 in Genome Data Viewer
Location:
5q33.2
Exon count:
2
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 5 NC_000005.10 (154474972..154478264, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (153854532..153857824, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene polypeptide N-acetylgalactosaminyltransferase 10 Neighboring gene SAP30L antisense RNA 1 (head to head) Neighboring gene SAP30 like Neighboring gene vacuolar protein sorting 37 homolog A pseudogene Neighboring gene myotubularin related protein 7 pseudogene Neighboring gene corepressor interacting with RBPJ, 1 pseudogene 1

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Identification of three novel genetic variations associated with electrocardiographic traits (QRS duration and PR interval) in East Asians.
NHGRI GWA Catalog
  • Heart Development, organism-specific biosystem (from WikiPathways)
    Heart Development, organism-specific biosystemThis pathway has been largely adapted from an article by Deepak Srivastava, Cell. 2006 Sep 22;126(6):1037-48. In this pathway are known transcription factors, miRNAs and regulatory proteins that impa...
  • Mesodermal Commitment Pathway, organism-specific biosystem (from WikiPathways)
    Mesodermal Commitment Pathway, organism-specific biosystemModel depicting mesodermal specification based on the literature and highly enriched gene expression profiles via comparison across dozens of independent induced and embryonic pluripotent stem cell l...
  • Neural Crest Differentiation, organism-specific biosystem (from WikiPathways)
    Neural Crest Differentiation, organism-specific biosystemGene regulatory network model of cranial neural crest cell (CNCC) development, adaped from PMID: 19575671. Most interactions in the model are proposed to regulate transcription of core factors involv...
  • Signaling pathways regulating pluripotency of stem cells, organism-specific biosystem (from KEGG)
    Signaling pathways regulating pluripotency of stem cells, organism-specific biosystemPluripotent stem cells (PSCs) are basic cells with an indefinite self-renewal capacity and the potential to generate all the cell types of the three germinal layers. The types of PSCs known to date i...
  • Signaling pathways regulating pluripotency of stem cells, conserved biosystem (from KEGG)
    Signaling pathways regulating pluripotency of stem cells, conserved biosystemPluripotent stem cells (PSCs) are basic cells with an indefinite self-renewal capacity and the potential to generate all the cell types of the three germinal layers. The types of PSCs known to date i...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA polymerase II proximal promoter sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
RNA polymerase II transcription factor activity, sequence-specific DNA binding ISA
Inferred from Sequence Alignment
more info
 
RNA polymerase II transcription factor activity, sequence-specific DNA binding ISM
Inferred from Sequence Model
more info
PubMed 
RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS
Non-traceable Author Statement
more info
PubMed 
bHLH transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
enzyme binding IEA
Inferred from Electronic Annotation
more info
 
identical protein binding ISS
Inferred from Sequence or Structural Similarity
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein heterodimerization activity IEA
Inferred from Electronic Annotation
more info
 
protein homodimerization activity NAS
Non-traceable Author Statement
more info
PubMed 
transcription coactivator activity IC
Inferred by Curator
more info
PubMed 
transcription coactivator activity IDA
Inferred from Direct Assay
more info
PubMed 
transcription corepressor activity IC
Inferred by Curator
more info
PubMed 
transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
contributes_to transcription regulatory region DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
transcriptional repressor activity, RNA polymerase II proximal promoter sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
angiogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
blastocyst development IEP
Inferred from Expression Pattern
more info
PubMed 
cardiac left ventricle formation IMP
Inferred from Mutant Phenotype
more info
PubMed 
cardiac right ventricle formation IMP
Inferred from Mutant Phenotype
more info
PubMed 
cardiac septum morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
cartilage morphogenesis IEA
Inferred from Electronic Annotation
more info
 
embryonic heart tube development ISS
Inferred from Sequence or Structural Similarity
more info
 
embryonic heart tube formation IEA
Inferred from Electronic Annotation
more info
 
heart development ISS
Inferred from Sequence or Structural Similarity
more info
 
heart looping ISS
Inferred from Sequence or Structural Similarity
more info
 
mesenchyme development IEA
Inferred from Electronic Annotation
more info
 
mesoderm formation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of DNA-binding transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of RNA polymerase II regulatory region sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
odontogenesis of dentin-containing tooth IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
trophectodermal cell differentiation IEP
Inferred from Expression Pattern
more info
PubMed 
trophoblast giant cell differentiation IEA
Inferred from Electronic Annotation
more info
 
ventricular cardiac muscle tissue morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
RNA polymerase II transcription factor complex IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
nucleolus IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm IEA
Inferred from Electronic Annotation
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
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

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

  1. NG_052889.1 RefSeqGene

    Range
    5001..8293
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_004821.2NP_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, OTTHUMP00000160696, ENST00000231121.2, OTTHUMT00000252511
    Conserved Domains (1) summary
    smart00353
    Location:103152
    HLH; helix loop helix domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p12 Primary Assembly

    Range
    154474972..154478264 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Conserved Domains (2) summary
    smart00353
    Location:103152
    HLH; helix loop helix domain
    pfam02745
    Location:147185
    MCR_alpha_N; Methyl-coenzyme M reductase alpha subunit, N-terminal domain
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