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

    Gene ID: 57493, updated on 15-Jun-2019

    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
    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
    Expression
    Broad expression in thyroid (RPKM 26.8), lung (RPKM 26.7) and 23 other tissues See more
    Orthologs

    Genomic context

    See HEG1 in Genome Data Viewer
    Location:
    3q21.2
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (124965710..125055958, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (124684554..124774802, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene integrin subunit beta 5 Neighboring gene enolase 1 pseudogene 3 Neighboring gene mucin 13, cell surface associated Neighboring gene Sharpr-MPRA regulatory region 1791 Neighboring gene RNA, 5S ribosomal pseudogene 137 Neighboring gene solute carrier family 12 member 8 Neighboring gene RNA, U6 small nuclear 230, pseudogene

    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 FunctionsWhat's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • KIAA1237, MGC72175

    Gene Ontology Provided by GOA

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

    General protein information

    Preferred Names
    protein HEG homolog 1
    Names
    heart of glass

    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.

    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
      Q9ULI3
      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: Homo sapiens 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_000003.12 Reference GRCh38.p13 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_005247666.1XP_005247723.1  protein HEG homolog 1 isoform X1

      Conserved Domains (3) summary
      smart00179
      Location:11251156
      EGF_CA; Calcium-binding EGF-like domain
      cd00054
      Location:10861122
      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:824976
      PARM; PARM
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