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Aliases for HEG1 Gene

Aliases for HEG1 Gene

  • Heart Development Protein With EGF-Like Domains 1 2 3
  • Heart Of Glass 2 3
  • KIAA1237 4 6
  • HEG Homolog 1 (Zebrafish) 2
  • Protein HEG Homolog 1 3
  • HEG Homolog 1 3
  • MSTP112 3
  • MST112 3
  • HEG 3

External Ids for HEG1 Gene

Summaries for HEG1 Gene

GeneCards Summary for HEG1 Gene

HEG1 (Heart Development Protein With EGF-Like Domains 1) is a Protein Coding gene. GO annotations related to this gene include calcium ion binding.

UniProtKB/Swiss-Prot for HEG1 Gene

  • Receptor component of the CCM signaling pathway which is a crucial regulator of heart and vessel formation and integrity May act through the stabilization of endothelial cell junctions.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HEG1 Gene

Genomics for HEG1 Gene

Genomic Location for HEG1 Gene

Start:
124,965,710 bp from pter
End:
125,055,958 bp from pter
Size:
90,249 bases
Orientation:
Minus strand

Genomic View for HEG1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for HEG1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HEG1 Gene

Regulatory Elements for HEG1 Gene

Proteins for HEG1 Gene

  • Protein details for HEG1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9ULI3-HEG1_HUMAN
    Recommended name:
    Protein HEG homolog 1
    Protein Accession:
    Q9ULI3
    Secondary Accessions:
    • Q6NX66
    • Q8NC40
    • Q9BSV0

    Protein attributes for HEG1 Gene

    Size:
    1381 amino acids
    Molecular mass:
    147461 Da
    Quaternary structure:
    • Interacts with CCM2 and KRIT1; KRIT1 markedly facilitates interaction with CCM2.
    SequenceCaution:
    • Sequence=AAH67235.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAC11336.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for HEG1 Gene

    Alternative splice isoforms for HEG1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HEG1 Gene

Proteomics data for HEG1 Gene at MOPED

Post-translational modifications for HEG1 Gene

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Thr67, Thr77, Ser81, Thr91, Ser96, Asn123, Thr146, Ser147, Ser150, Asn159, Asn180, Thr226, Asn314, Thr328, Thr333, Thr336, Ser345, Thr347, Ser349, Ser354, Thr356, Ser363, Thr367, Thr368, Ser369, Ser375, Ser377, Asn462, Asn520, Ser529, Ser534, Thr547, Ser548, Ser549, Thr552, Thr555, Ser558, Ser559, Thr560, Thr562, Asn610, Ser689, Ser690, Ser694, Thr695, Thr803, Thr934, Ser938, Ser941, and Asn1137

Other Protein References for HEG1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for HEG1 Gene

Domains for HEG1 Gene

Suggested Antigen Peptide Sequences for HEG1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9ULI3

UniProtKB/Swiss-Prot:

HEG1_HUMAN
Domain:
  • Contains 2 EGF-like domains.:
    • Q9ULI3
genes like me logo Genes that share domains with HEG1: view

No data available for Gene Families for HEG1 Gene

Function for HEG1 Gene

Molecular function for HEG1 Gene

UniProtKB/Swiss-Prot Function: Receptor component of the CCM signaling pathway which is a crucial regulator of heart and vessel formation and integrity May act through the stabilization of endothelial cell junctions.

Gene Ontology (GO) - Molecular Function for HEG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with HEG1: view
genes like me logo Genes that share phenotypes with HEG1: view

Animal Models for HEG1 Gene

MGI Knock Outs for HEG1:

miRNA for HEG1 Gene

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for HEG1 Gene

Localization for HEG1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HEG1 Gene

Isoform 1: Cell membrane; Single-pass type I membrane protein. Cell junction.
Isoform 2: Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HEG1 Gene COMPARTMENTS Subcellular localization image for HEG1 gene
Compartment Confidence
plasma membrane 5
extracellular 3
cytosol 1
endoplasmic reticulum 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for HEG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005911 cell-cell junction IEA --
GO:0009897 external side of plasma membrane IEA --
GO:0009986 cell surface --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with HEG1: view

Pathways for HEG1 Gene

SuperPathways for HEG1 Gene

No Data Available

Interacting Proteins for HEG1 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000311502%0d%0a9606.ENSP00000344818%0d%0a
Selected Interacting proteins: ENSP00000311502 for HEG1 Gene via STRING

Symbol External ID(s) Details
UBC

Gene Ontology (GO) - Biological Process for HEG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001570 vasculogenesis IEA --
GO:0001701 in utero embryonic development IEA --
GO:0001885 endothelial cell development --
GO:0001886 endothelial cell morphogenesis IEA --
GO:0001944 vasculature development --
genes like me logo Genes that share ontologies with HEG1: view

No data available for Pathways by source for HEG1 Gene

Transcripts for HEG1 Gene

mRNA/cDNA for HEG1 Gene

(2) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(1) Selected AceView cDNA sequences:
(6) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for HEG1 Gene

Heart development protein with EGF-like domains 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for HEG1 Gene

No ASD Table

Relevant External Links for HEG1 Gene

GeneLoc Exon Structure for
HEG1
ECgene alternative splicing isoforms for
HEG1

Expression for HEG1 Gene

mRNA expression in normal human tissues for HEG1 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for HEG1 Gene

SOURCE GeneReport for Unigene cluster for HEG1 Gene Hs.477420

genes like me logo Genes that share expressions with HEG1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for HEG1 Gene

Orthologs for HEG1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for HEG1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HEG1 35
  • 98.91 (n)
  • 99.06 (a)
HEG1 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia HEG1 35
  • 76.56 (n)
  • 66.46 (a)
HEG1 36
  • 65 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HEG1 35
  • 77.2 (n)
  • 69.51 (a)
HEG1 36
  • 68 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Heg1 35
  • 74.66 (n)
  • 67.01 (a)
Heg1 16
Heg1 36
  • 63 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia HEG1 36
  • 44 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HEG1 36
  • 43 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Heg1 35
  • 72.64 (n)
  • 61.97 (a)
chicken
(Gallus gallus)
Aves HEG1 36
  • 49 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HEG1 36
  • 47 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6035 35
zebrafish
(Danio rerio)
Actinopterygii Dr.29400 35
heg 36
  • 31 (a)
OneToOne
Species with no ortholog for HEG1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for HEG1 Gene

ENSEMBL:
Gene Tree for HEG1 (if available)
TreeFam:
Gene Tree for HEG1 (if available)

Paralogs for HEG1 Gene

No data available for Paralogs for HEG1 Gene

Variants for HEG1 Gene

Sequence variations from dbSNP and Humsavar for HEG1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs2635 -- 124,981,350(+) tcaca(C/G)ttatg intron-variant
rs13473 -- 124,967,663(-) TTGTC(C/T)GCCTG utr-variant-3-prime
rs16905 -- 124,999,525(+) AAGCC(A/G)ATGTC intron-variant
rs884951 -- 124,981,071(+) tggcc(C/T)caagt intron-variant
rs1472516 -- 124,969,947(+) GATTT(A/T)AAAAA utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for HEG1 Gene

Variant ID Type Subtype PubMed ID
nsv877405 CNV Gain 21882294
nsv460841 CNV Loss 19166990
nsv829712 CNV Loss 17160897
esv34126 CNV Loss 18971310
esv22297 CNV Loss 19812545

Relevant External Links for HEG1 Gene

HapMap Linkage Disequilibrium report
HEG1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HEG1 Gene

Disorders for HEG1 Gene

Relevant External Links for HEG1

Genetic Association Database (GAD)
HEG1
Human Genome Epidemiology (HuGE) Navigator
HEG1
genes like me logo Genes that share disorders with HEG1: view

No data available for UniProtKB/Swiss-Prot for HEG1 Gene

Publications for HEG1 Gene

  1. Structural basis of the junctional anchorage of the cerebral cavernous malformations complex. (PMID: 23007647) Gingras A.R. … Ginsberg M.H. (J. Cell Biol. 2012) 2 3 4
  2. Regulation of cardiovascular development and integrity by the heart of glass-cerebral cavernous malformation protein pathway. (PMID: 19151727) Kleaveland B. … Kahn M.L. (Nat. Med. 2009) 2 3 23
  3. Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10574462) Nagase T. … Ohara O. (DNA Res. 1999) 2 3 4
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 48
  5. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PMID: 23000965) Povlsen L.K. … Choudhary C. (Nat. Cell Biol. 2012) 3

Products for HEG1 Gene

Sources for HEG1 Gene

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