HEG1 (heart development protein with EGF like domains 1)

Gene

• Entrez ID: 57493
• Gene name: Heart development protein with EGF like domains 1
• Gene symbol: HEG1
• Synonyms: HEG, MST112, MSTP112
• Chromosome: 3
• Chromosome location: 3q21.2

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT020310	hsa-miR-130b-3p	Sequencing	20371350
MIRT027725	hsa-miR-98-5p	Microarray	19088304
MIRT028175	hsa-miR-93-5p	Sequencing	20371350
MIRT031232	hsa-miR-19b-3p	Sequencing	20371350
MIRT783504	hsa-miR-129-5p	HITS-CLIP	27418678
MIRT784888	hsa-miR-33a-5p	HITS-CLIP	27418678
MIRT784893	hsa-miR-33b-5p	HITS-CLIP	27418678
MIRT785219	hsa-miR-3680-3p	HITS-CLIP	27418678
MIRT786061	hsa-miR-450b-5p	HITS-CLIP	27418678
MIRT787043	hsa-miR-507	HITS-CLIP	27418678
MIRT787652	hsa-miR-557	HITS-CLIP	27418678

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001570	Process	Vasculogenesis	IEA
GO:0001701	Process	In utero embryonic development	IEA
GO:0001886	Process	Endothelial cell morphogenesis	IEA
GO:0001945	Process	Lymph vessel development	IEA
GO:0003017	Process	Lymph circulation	IEA
GO:0003209	Process	Cardiac atrium morphogenesis	IEA
GO:0003222	Process	Ventricular trabecula myocardium morphogenesis	IEA
GO:0003281	Process	Ventricular septum development	IEA
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	23007647, 26780829
GO:0005576	Component	Extracellular region	IEA
GO:0005911	Component	Cell-cell junction	IDA	26780829
GO:0007043	Process	Cell-cell junction assembly	IEA
GO:0007507	Process	Heart development	IBA	21873635
GO:0009791	Process	Post-embryonic development	IEA
GO:0009897	Component	External side of plasma membrane	IEA
GO:0016021	Component	Integral component of membrane	IEA
GO:0030324	Process	Lung development	IEA
GO:0035024	Process	Negative regulation of Rho protein signal transduction	IMP	26780829
GO:0035264	Process	Multicellular organism growth	IEA
GO:0048845	Process	Venous blood vessel morphogenesis	IEA
GO:0050878	Process	Regulation of body fluid levels	IEA
GO:0055017	Process	Cardiac muscle tissue growth	IEA
GO:0060039	Process	Pericardium development	IEA
GO:0090271	Process	Positive regulation of fibroblast growth factor production	IEA
GO:1902414	Process	Protein localization to cell junction	IMP	26780829
GO:1905709	Process	Negative regulation of membrane permeability	IDA	26780829
GO:2000299	Process	Negative regulation of Rho-dependent protein serine/threonine kinase activity	IDA	26780829

Other IDs

• MIM: 614182
• HGNC: 29227
• e!Ensembl: ENSG00000173706

Protein

• UniProt ID: Q9ULI3
• Protein name: Protein HEG homolog 1
• Protein 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.
• PDB: 3U7D, 4HDQ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00008	EGF	989 → 1021	EGF-like domain	Domain
  PF07645	EGF_CA	1025 → 1063	Calcium-binding EGF domain	Domain

• Sequence:

  MASPRASRWPPPLLLLLLPLLLLPPAAPGTRDPPPSPARRALSLAPLAGAGLELQLERRP
  EREPPPTPPRERRGPATPGPSYRAPEPGAATQRGPSGRAPRGGSADAAWKHWPESNTEAH
  VENITFYQNQEDFSTVSSKEGVMVQTSGKSHAASDAPENLTLLAETADARGRSGSSSRTN
  FTILPVGYSLEIATALTSQSGNLASESLHLPSSSSEFDERIAAFQTKSGTASEMGTERAM
  GLSEEWTVHSQEATTSAWSPSFLPALEMGELTTPSRKRNSSGPDLSWLHFYRTAASSPLL
  DLSSSSESTEKLNNSTGLQSSSVSQTKTMHVATVFTDGGPRTLRSLTVSLGPVSKTEGFP
  KDSRIATTSSSVLLSPSAVESRRNSRVTGNPGDEEFIEPSTENEFGLTSLRWQNDSPTFG
  EHQLASSSEVQNGSPMSQTETVSRSVAPMRGGEITAHWLLTNSTTSADVTGSSASYPEGV
  NASVLTQFSDSTVQSGGSHTALGDRSYSESSSTSSSESLNSSAPRGERSIAGISYGQVRG
  TAIEQRTSSDHTDHTYLSSTFTKGERALLSITDNSSSSDIVESSTSYIKISNSSHSEYSS
  FFHAQTERSNISSYDGEYAQPSTESPVLHTSNLPSYTPTINMPNTSVVLDTDAEFVSDSS
  SSSSSSSSSSSSGPPLPLPSVSQSHHLFSSILPSTRASVHLLKSTSDASTPWSSSPSPLP
  VSLTTSTSAPLSVSQTTLPQSSSTPVLPRARETPVTSFQTSTMTSFMTMLHSSQTADLKS
  QSTPHQEKVITESKSPSLVSLPTESTKAVTTNSPLPPSLTESSTEQTLPATSTNLAQMSP
  TFTTTILKTSQPLMTTPGTLSSTASLVTGPIAVQTTAGKQLSLTHPEILVPQISTEGGIS
  TERNRVIVDATTGLIPLTSVPTSAKEMTTKLGVTAEYSPASRSLGTSPSPQTTVVSTAED
  LAPKSATFAVQSSTQSPTTVSSSASVNSCAVNPCLHNGECVADNTSRGYHCRCPPSWQGD
  DCSVDVNECLSNPCPSTAMCNNTQGSFICKCPVGYQLEKGICNLVRTFVTEFKLKRTFLN
  TTVEKHSDLQEVENEITKTLNMCFSALPSYIRSTVHASRESNAVVISLQTTFSLASNVTL
  FDLADRMQKCVNSCKSSAEVCQLLGSQRRIFRAGSLCKRKSPECDKDTSICTDLDGVALC
  QCKSGYFQFNKMDHSCRACEDGYRLENETCMSCPFGLGGLNCGNPYQLITVVIAAAGGGL
  LLILGIALIVTCCRKNKNDISKLIFKSGDFQMSPYAEYPKNPRSQEWGREAIEMHENGST
  KNLLQMTDVYYSPTSVRNPELERNGLYPAYTGLPGSRHSCIFPGQYNPSFISDESRRRDY
  F

• Sequence length: 1381