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

    Gene ID: 9421, updated on 17-Jun-2024

    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
    NEW
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    Genomic context

    See HAND1 in Genome Data Viewer
    Location:
    5q33.2
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (154474972..154478227, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (155008931..155012186, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (153854532..153857787, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene polypeptide N-acetylgalactosaminyltransferase 10 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:153775267-153775987 Neighboring gene SAP30L antisense RNA 1 (head to head) Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16540 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:153789944-153790444 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23477 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:153825354-153825854 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16542 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:153851993-153852964 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:153852965-153853936 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:153855265-153855452 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:153855607-153856461 Neighboring gene SAP30 like Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:153859235-153859744 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:153863719-153864218 Neighboring gene VPS37A, ESCRT-I subunit pseudogene Neighboring gene myotubularin related protein 7 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23478 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23479 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23480 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:153898879-153899379 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:153900569-153901172 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:153920920-153921422 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

    Related articles in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    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 IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables enzyme 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 homodimerization activity 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 ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    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 
    involved_in cartilage morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in embryonic heart tube development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in embryonic heart tube formation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in heart development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in heart development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in heart looping ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in mesenchyme development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mesoderm formation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of DNA-binding transcription factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of RNA polymerase II regulatory region sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in 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 
    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 
    involved_in trophoblast giant cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    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 
    part_of 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 

    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)

    NEW Try the new Transcript table

    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
      cd18952
      Location:94153
      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_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      154474972..154478227 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005268531.2XP_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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      155008931..155012186 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054353822.1XP_054209797.1  heart- and neural crest derivatives-expressed protein 1 isoform X1