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

Gene ID: 77446, updated on 22-Apr-2024

Summary

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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 immune system. Orthologous to human HEG1 (heart development protein with EGF like domains 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in lung adult (RPKM 43.5), ovary adult (RPKM 33.5) and 23 other tissues See more
Orthologs
human all
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Genomic context

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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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Heart of glass anchors Rasip1 at endothelial cell-cell junctions to support vascular integrity. de Kreuk BJ, et al. Elife, 2016 Jan 19. PMID 26780829, Free PMC Article
  2. Dynamic regulation of the cerebral cavernous malformation pathway controls vascular stability and growth. Zheng X, et al. Dev Cell, 2012 Aug 14. PMID 22898778, Free PMC Article
  3. Regulation of cardiovascular development and integrity by the heart of glass-cerebral cavernous malformation protein pathway. Kleaveland B, et al. Nat Med, 2009 Feb. PMID 19151727, Free PMC Article
  4. Pax6 limits the competence of developing cerebral cortical cells to respond to inductive intercellular signals. Manuel M, et al. PLoS Biol, 2022 Sep. PMID 36067211, Free PMC Article
  5. A Role for Sensory end Organ-Derived Signals in Regulating Muscle Spindle Proprioceptor Phenotype. Wu D, et al. J Neurosci, 2019 May 29. PMID 30926747, Free PMC Article

See all (20) citations in PubMed

GeneRIFs: Gene References Into Functions

Variation

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Alleles

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

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

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 development IEA
Inferred from Electronic Annotation
more info
  
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-dependent protein serine/threonine kinase activity ISO
Inferred from Sequence Orthology
more info
  
involved_in negative regulation of membrane permeability ISO
Inferred from Sequence Orthology
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
  
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 anchoring junction IEA
Inferred from Electronic Annotation
more info
  
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 
located_in membrane IEA
Inferred from Electronic Annotation
more info
  
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
protein HEG homolog 1
Names
HEG homolog 1

NCBI Reference Sequences (RefSeq)

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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_175256.5 → NP_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:726 → 757
    EGF_CA; Calcium-binding EGF-like domain
    cd00054
    Location:687 → 723
    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_006522716.3 → XP_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:957 → 988
    EGF_CA; Calcium-binding EGF-like domain
    PHA03247
    Location:550 → 917
    PHA03247; large tegument protein UL36; Provisional
    cd00054
    Location:918 → 954
    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_006522717.3 → XP_006522780.1  protein HEG homolog 1 isoform X3

    UniProtKB/Swiss-Prot
    E9Q7X6, Q3TR26, Q6GQS6, Q8CED0
    Conserved Domains (3) summary
    smart00179
    Location:1054 → 1085
    EGF_CA; Calcium-binding EGF-like domain
    PHA03247
    Location:647 → 1014
    PHA03247; large tegument protein UL36; Provisional
    cd00054
    Location:1015 → 1051
    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_006522715.4 → XP_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:1054 → 1085
    EGF_CA; Calcium-binding EGF-like domain
    PHA03247
    Location:647 → 1014
    PHA03247; large tegument protein UL36; Provisional
    cd00054
    Location:1015 → 1051
    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_006522718.3 → XP_006522781.1  protein HEG homolog 1 isoform X5

    UniProtKB/Swiss-Prot
    E9Q7X6, Q3TR26, Q6GQS6, Q8CED0
    Conserved Domains (3) summary
    smart00179
    Location:823 → 854
    EGF_CA; Calcium-binding EGF-like domain
    PHA03247
    Location:416 → 783
    PHA03247; large tegument protein UL36; Provisional
    cd00054
    Location:784 → 820
    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_036160178.1 → XP_036016071.1  protein HEG homolog 1 isoform X4

    UniProtKB/Swiss-Prot
    E9Q7X6, Q3TR26, Q6GQS6, Q8CED0
    Conserved Domains (3) summary
    smart00179
    Location:857 → 888
    EGF_CA; Calcium-binding EGF-like domain
    PHA03247
    Location:450 → 817
    PHA03247; large tegument protein UL36; Provisional
    cd00054
    Location:818 → 854
    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_017317159.2 → XP_017172648.1  protein HEG homolog 1 isoform X6

    UniProtKB/TrEMBL
    Q6DFX1
    Conserved Domains (3) summary
    smart00179
    Location:539 → 570
    EGF_CA; Calcium-binding EGF-like domain
    PHA03247
    Location:132 → 499
    PHA03247; large tegument protein UL36; Provisional
    cd00054
    Location:500 → 536
    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.
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
E9Q7X6.1 GenPept UniProtKB/Swiss-Prot:E9Q7X6

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