U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from Protein

    • Showing Current items.

    Heg1 heart development protein with EGF-like domains 1 [ Mus musculus (house mouse) ]

    Gene ID: 77446, updated on 27-Nov-2024

    Summary

    Official Symbol
    Heg1provided by MGI
    Official Full Name
    heart development protein with EGF-like domains 1provided by MGI
    Primary source
    MGI:MGI:1924696
    See related
    Ensembl:ENSMUSG00000075254 AllianceGenome:MGI:1924696
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Gm629; 4632417D23Rik; 5530401I02Rik; 9530025L16Rik
    Summary
    Predicted to enable calcium ion binding activity. Acts upstream of or within several processes, including circulatory system development; endothelial cell morphogenesis; and lymph circulation. Located in cell-cell junction and external side of plasma membrane. Is expressed in several structures, including alimentary system; brain; cardiovascular system; genitourinary system; and hemolymphoid system. Orthologous to human HEG1 (heart development protein with EGF like domains 1). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in lung adult (RPKM 43.5), ovary adult (RPKM 33.5) 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:
    16 B3; 16 24.17 cM
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 16 NC_000082.7 (33504754..33591946)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 16 NC_000082.6 (33684384..33771576)

    Chromosome 16 - NC_000082.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_40693 Neighboring gene zinc finger protein 148 Neighboring gene STARR-seq mESC enhancer starr_40697 Neighboring gene STARR-seq mESC enhancer starr_40698 Neighboring gene STARR-seq mESC enhancer starr_40700 Neighboring gene solute carrier family 12 (potassium/chloride transporters), member 8 Neighboring gene STARR-seq mESC enhancer starr_40702 Neighboring gene STARR-positive B cell enhancer ABC_E5537 Neighboring gene STARR-seq mESC enhancer starr_40703 Neighboring gene STARR-positive B cell enhancer ABC_E11611 Neighboring gene STARR-seq mESC enhancer starr_40709 Neighboring gene STARR-seq mESC enhancer starr_40710 Neighboring gene STARR-positive B cell enhancer ABC_E5538 Neighboring gene predicted gene 15658 Neighboring gene mucin 13, epithelial transmembrane Neighboring gene predicted gene, 34967

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    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
    acts_upstream_of_or_within cardiac atrium morphogenesis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within cardiac atrium morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within cardiac muscle tissue growth IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within cell-cell junction organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within endothelial cell development IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within endothelial cell morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of fibroblast growth factor production IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in heart development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within heart development IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within heart development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within in utero embryonic development IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within in utero embryonic development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within lung development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within lymph circulation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within lymph vessel development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within multicellular organism growth IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in negative regulation of Rho protein signal transduction ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of Rho protein signal transduction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of Rho-dependent protein serine/threonine kinase activity ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of Rho-dependent protein serine/threonine kinase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of membrane permeability ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of membrane permeability ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within pericardium development IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within pericardium development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of fibroblast growth factor production IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within post-embryonic development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein localization to cell junction ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in protein localization to cell junction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within regulation of body fluid levels IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within vasculature development IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within vasculogenesis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within venous blood vessel morphogenesis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within ventricular septum development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within ventricular trabecula myocardium morphogenesis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cell-cell junction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cell-cell junction ISO
    Inferred from Sequence Orthology
    more info
     
    located_in external side of plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    protein HEG homolog 1
    Names
    HEG homolog 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.

    mRNA and Protein(s)

    1. NM_175256.5NP_780465.4  protein HEG homolog 1 precursor

      Status: VALIDATED

      Source sequence(s)
      BB639887, BC076596, BE862445
      UniProtKB/Swiss-Prot
      E9Q7X6, Q3TR26, Q6GQS6, Q8CED0
      UniProtKB/TrEMBL
      E9Q440
      Related
      ENSMUSP00000123686.2, ENSMUST00000152782.8
      Conserved Domains (2) summary
      smart00179
      Location:726757
      EGF_CA; Calcium-binding EGF-like domain
      cd00054
      Location:687723
      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 ...

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000082.7 Reference GRCm39 C57BL/6J

      Range
      33504754..33591946
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006522716.3XP_006522779.1  protein HEG homolog 1 isoform X2

      UniProtKB/Swiss-Prot
      E9Q7X6, Q3TR26, Q6GQS6, Q8CED0
      UniProtKB/TrEMBL
      A0A338P6D4
      Related
      ENSMUSP00000155944.2, ENSMUST00000232568.2
      Conserved Domains (3) summary
      smart00179
      Location:957988
      EGF_CA; Calcium-binding EGF-like domain
      PHA03247
      Location:550917
      PHA03247; large tegument protein UL36; Provisional
      cd00054
      Location:918954
      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 ...
    2. XM_006522717.3XP_006522780.1  protein HEG homolog 1 isoform X3

      UniProtKB/Swiss-Prot
      E9Q7X6, Q3TR26, Q6GQS6, Q8CED0
      Conserved Domains (3) summary
      smart00179
      Location:10541085
      EGF_CA; Calcium-binding EGF-like domain
      PHA03247
      Location:6471014
      PHA03247; large tegument protein UL36; Provisional
      cd00054
      Location:10151051
      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 ...
    3. XM_006522715.4XP_006522778.1  protein HEG homolog 1 isoform X1

      UniProtKB/Swiss-Prot
      E9Q7X6, Q3TR26, Q6GQS6, Q8CED0
      Related
      ENSMUSP00000119790.2, ENSMUST00000126532.2
      Conserved Domains (3) summary
      smart00179
      Location:10541085
      EGF_CA; Calcium-binding EGF-like domain
      PHA03247
      Location:6471014
      PHA03247; large tegument protein UL36; Provisional
      cd00054
      Location:10151051
      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 ...
    4. XM_006522718.3XP_006522781.1  protein HEG homolog 1 isoform X5

      UniProtKB/Swiss-Prot
      E9Q7X6, Q3TR26, Q6GQS6, Q8CED0
      Conserved Domains (3) summary
      smart00179
      Location:823854
      EGF_CA; Calcium-binding EGF-like domain
      PHA03247
      Location:416783
      PHA03247; large tegument protein UL36; Provisional
      cd00054
      Location:784820
      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 ...
    5. XM_036160178.1XP_036016071.1  protein HEG homolog 1 isoform X4

      UniProtKB/Swiss-Prot
      E9Q7X6, Q3TR26, Q6GQS6, Q8CED0
      Conserved Domains (3) summary
      smart00179
      Location:857888
      EGF_CA; Calcium-binding EGF-like domain
      PHA03247
      Location:450817
      PHA03247; large tegument protein UL36; Provisional
      cd00054
      Location:818854
      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 ...
    6. XM_017317159.2XP_017172648.1  protein HEG homolog 1 isoform X6

      UniProtKB/TrEMBL
      Q6DFX1
      Conserved Domains (3) summary
      smart00179
      Location:539570
      EGF_CA; Calcium-binding EGF-like domain
      PHA03247
      Location:132499
      PHA03247; large tegument protein UL36; Provisional
      cd00054
      Location:500536
      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 ...

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_172934.4: Suppressed sequence

      Description
      NM_172934.4: This RefSeq was permanently suppressed because currently there is insufficient support for the protein.