Homo sapiens Protein: HEG1
Summary
InnateDB Protein IDBP-53999.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol HEG1
Protein Name HEG homolog 1 (zebrafish)
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000311502
InnateDB Gene IDBG-53997 (HEG1)
Protein Structure
UniProt Annotation
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. {ECO:0000250}.
Subcellular Localization Isoform 1: Cell membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}. Cell junction {ECO:0000250}.Isoform 2: Secreted {ECO:0000305}.
Disease Associations
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated
Total 1 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005509 calcium ion binding
GO:0005515 protein binding
Biological Process
GO:0001570 vasculogenesis
GO:0001701 in utero embryonic development
GO:0001885 endothelial cell development
GO:0001886 endothelial cell morphogenesis
GO:0001944 vasculature development
GO:0001945 lymph vessel development
GO:0003017 lymph circulation
GO:0003209 cardiac atrium morphogenesis
GO:0003281 ventricular septum development
GO:0007043 cell-cell junction assembly
GO:0007507 heart development
GO:0009791 post-embryonic development
GO:0030324 lung development
GO:0035264 multicellular organism growth
GO:0045216 cell-cell junction organization
GO:0048845 venous blood vessel morphogenesis
GO:0050878 regulation of body fluid levels
GO:0060039 pericardium development
Cellular Component
GO:0005576 extracellular region
GO:0005911 cell-cell junction
GO:0009897 external side of plasma membrane
GO:0009986 cell surface
GO:0016021 integral component of membrane
Protein Structure and Domains
PDB ID
InterPro IPR000742 Epidermal growth factor-like domain
IPR001881 EGF-like calcium-binding domain
PFAM PF00008
PF07645
PRINTS
PIRSF
SMART SM00181
SM00179
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9ULI3
PhosphoSite PhosphoSite-Q9ULI3
TrEMBL
UniProt Splice Variant
Entrez Gene 57493
UniGene Hs.619929
RefSeq NP_065784
HUGO HGNC:29227
OMIM 614182
CCDS CCDS46898
HPRD
IMGT
EMBL AB033063 AC026342 AC092983 AC117488 AK074987 BC004539 BC067235
GenPept AAH04539 AAH67235 BAA86551 BAC11336