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

Gene ID: 9421, updated on 3-May-2020

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
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

Genomic context

See HAND1 in Genome Data Viewer
Location:
5q33.2
Exon count:
2
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (154474972..154478227, 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 VPS37A, ESCRT-I subunit pseudogene Neighboring gene myotubularin related protein 7 pseudogene Neighboring gene CIR1 pseudogene 1

Genomic regions, transcripts, and products

Expression

  • 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
DNA-binding transcription factor activity, RNA polymerase II-specific ISM
Inferred from Sequence Model
more info
PubMed 
DNA-binding transcription repressor activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
PubMed 
RNA polymerase II proximal promoter sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
RNA polymerase II regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
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 homodimerization activity IEA
Inferred from Electronic Annotation
more info
 
transcription coactivator activity IEA
Inferred from Electronic Annotation
more info
 
transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
contributes_to transcription regulatory region 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
 
developmental process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 
regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
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 ISS
Inferred from Sequence or Structural Similarity
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 
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
 
nucleolus IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm IEA
Inferred from Electronic Annotation
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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)

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
    5038..8293
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_004821.3NP_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
    smart00353
    Location:103152
    HLH; helix loop helix domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    154474972..154478227 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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