U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

    HEG1 heart development protein with EGF like domains 1 [ Homo sapiens (human) ]

    Gene ID: 57493, updated on 27-Nov-2024

    Summary

    Official Symbol
    HEG1provided by HGNC
    Official Full Name
    heart development protein with EGF like domains 1provided by HGNC
    Primary source
    HGNC:HGNC:29227
    See related
    Ensembl:ENSG00000173706 MIM:614182; AllianceGenome:HGNC:29227
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HEG; MST112; MSTP112
    Summary
    Predicted to enable calcium ion binding activity. Involved in several processes, including negative regulation of Rho protein signal transduction; negative regulation of Rho-dependent protein serine/threonine kinase activity; and negative regulation of membrane permeability. Located in cell-cell junction. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in thyroid (RPKM 26.8), lung (RPKM 26.7) and 23 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See HEG1 in Genome Data Viewer
    Location:
    3q21.2
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (124965710..125055997, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (127691280..127781663, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (124684554..124774841, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene integrin subunit beta 5 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:124587550-124588050 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:124588051-124588551 Neighboring gene Sharpr-MPRA regulatory region 8988 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:124604052-124604936 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14655 Neighboring gene enolase 1 pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14656 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr3:124606705-124607587 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:124607588-124608472 Neighboring gene NANOG hESC enhancer GRCh37_chr3:124626617-124627118 Neighboring gene mucin 13, cell surface associated Neighboring gene Sharpr-MPRA regulatory region 13474 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr3:124720175-124721374 Neighboring gene Sharpr-MPRA regulatory region 1791 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:124762717-124763230 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20408 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14657 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14658 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14659 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14660 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20409 Neighboring gene uncharacterized LOC124909423 Neighboring gene RNA, 5S ribosomal pseudogene 137

    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?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA1237, MGC72175

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cardiac atrium morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cardiac muscle tissue growth IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell-cell junction organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in endothelial cell morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in heart development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in lung development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in lymph circulation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in lymph vessel development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in multicellular organism growth IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of Rho protein signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of Rho-dependent protein serine/threonine kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of membrane permeability IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in pericardium development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of fibroblast growth factor production IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in post-embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein localization to cell junction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of body fluid levels IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in vasculogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in venous blood vessel morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in ventricular septum development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in ventricular trabecula myocardium morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in cell-cell junction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in external side of plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    protein HEG homolog 1
    Names
    heart of glass

    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.

    mRNA and Protein(s)

    1. NM_020733.2NP_065784.1  protein HEG homolog 1 precursor

      See identical proteins and their annotated locations for NP_065784.1

      Status: VALIDATED

      Source sequence(s)
      AB033063, AC026342, AC092983, AC117488, DR003209
      Consensus CDS
      CCDS46898.1
      UniProtKB/Swiss-Prot
      Q6NX66, Q8NC40, Q9BSV0, Q9ULI3
      UniProtKB/TrEMBL
      A0A994J6K3
      Related
      ENSP00000311502.3, ENST00000311127.9
      Conserved Domains (3) summary
      smart00179
      Location:10251056
      EGF_CA; Calcium-binding EGF-like domain
      cd00054
      Location:9861022
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      pfam17061
      Location:724876
      PARM; PARM

    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

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      124965710..125055997 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      127691280..127781663 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)