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Showing Protein Endoglin (HMDBP14549)

IdentificationBiological propertiesGene propertiesProtein propertiesExternal linksReferencesXMLShow 1 metabolite
Identification
HMDB Protein ID HMDBP14549
Secondary Accession Numbers None
Name Endoglin
Synonyms Not Available
Gene Name ENG
Protein Type Unknown
Biological Properties
General Function Not Available
Specific Function Vascular endothelium glycoprotein that plays an important role in the regulation of angiogenesis (PubMed:21737454, PubMed:23300529). Required for normal structure and integrity of adult vasculature (PubMed:7894484). Regulates the migration of vascular endothelial cells (PubMed:17540773). Required for normal extraembryonic angiogenesis and for embryonic heart development (By similarity). May regulate endothelial cell shape changes in response to blood flow, which drive vascular remodeling and establishment of normal vascular morphology during angiogenesis (By similarity). May play a critical role in the binding of endothelial cells to integrins and/or other RGD receptors (PubMed:1692830). Acts as TGF-beta coreceptor and is involved in the TGF-beta/BMP signaling cascade that ultimately leads to the activation of SMAD transcription factors (PubMed:8370410, PubMed:21737454, PubMed:22347366, PubMed:23300529). Required for GDF2/BMP9 signaling through SMAD1 in endothelial cells and modulates TGFB1 signaling through SMAD3 (PubMed:21737454, PubMed:22347366, PubMed:23300529).
Pathways Not Available
Reactions Not Available
GO Classification
Biological Process
wound healing
regulation of cell proliferation
cell chemotaxis
negative regulation of protein autophosphorylation
cell migration
cell adhesion
extracellular matrix disassembly
BMP signaling pathway
positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation
response to drug
ventricular trabecula myocardium morphogenesis
positive regulation of pathway-restricted SMAD protein phosphorylation
positive regulation of collagen biosynthetic process
positive regulation of protein phosphorylation
negative regulation of nitric-oxide synthase activity
endocardial cushion morphogenesis
vascular associated smooth muscle cell development
epithelial to mesenchymal transition
epithelial to mesenchymal transition involved in endocardial cushion formation
angiogenesis
positive regulation of angiogenesis
artery morphogenesis
negative regulation of transcription from RNA polymerase II promoter
positive regulation of protein kinase B signaling cascade
positive regulation of transcription from RNA polymerase II promoter
negative regulation of endothelial cell proliferation
negative regulation of cell migration
heart looping
smooth muscle tissue development
vasculogenesis
positive regulation of BMP signaling pathway
bone development
regulation of phosphorylation
outflow tract septum morphogenesis
negative regulation of transforming growth factor beta receptor signaling pathway
regulation of transforming growth factor beta receptor signaling pathway
branching involved in blood vessel morphogenesis
transforming growth factor beta receptor signaling pathway
cellular response to mechanical stimulus
atrial cardiac muscle tissue morphogenesis
regulation of cell adhesion
atrioventricular canal morphogenesis
cardiac atrium morphogenesis
cardiac ventricle morphogenesis
cell migration involved in endocardial cushion formation
positive regulation of gene expression
cell motility
central nervous system vasculogenesis
dorsal aorta morphogenesis
extracellular matrix constituent secretion
positive regulation of systemic arterial blood pressure
regulation of transcription, DNA-dependent
positive regulation of vascular associated smooth muscle cell differentiation
venous blood vessel morphogenesis
detection of hypoxia
response to corticosteroid
response to hypoxia
negative regulation of gene expression
negative regulation of pathway-restricted SMAD protein phosphorylation
Cellular Component
cell surface
receptor complex
focal adhesion
plasma membrane
extracellular space
external side of plasma membrane
endothelial microparticle
nuclear body
integral to membrane
Molecular Function
transforming growth factor beta binding
activin binding
transforming growth factor beta-activated receptor activity
coreceptor activity
galactose binding
protein homodimerization activity
transmembrane signaling receptor activity
type II transforming growth factor beta receptor binding
identical protein binding
glycosaminoglycan binding
type I transforming growth factor beta receptor binding
Cellular Location Not Available
Gene Properties
Chromosome Location Not Available
Locus Not Available
SNPs Not Available
Gene Sequence Not Available
Protein Properties
Number of Residues 658
Molecular Weight 70577.325
Theoretical pI 6.603
Pfam Domain Function
Signals
  • 1-25;
Transmembrane Regions
  • 587-611;
Protein Sequence Not Available
GenBank ID Protein Not Available
UniProtKB/Swiss-Prot ID P17813
UniProtKB/Swiss-Prot Entry Name EGLN_HUMAN
PDB IDs
GenBank Gene ID Not Available
GeneCard ID Not Available
GenAtlas ID Not Available
HGNC ID Not Available
References
General References
  1. Chen R, Jiang X, Sun D, Han G, Wang F, Ye M, Wang L, Zou H: Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry. J Proteome Res. 2009 Feb;8(2):651-61. doi: 10.1021/pr8008012. [PubMed:19159218 ]
  2. Humphray SJ, Oliver K, Hunt AR, Plumb RW, Loveland JE, Howe KL, Andrews TD, Searle S, Hunt SE, Scott CE, Jones MC, Ainscough R, Almeida JP, Ambrose KD, Ashwell RI, Babbage AK, Babbage S, Bagguley CL, Bailey J, Banerjee R, Barker DJ, Barlow KF, Bates K, Beasley H, Beasley O, Bird CP, Bray-Allen S, Brown AJ, Brown JY, Burford D, Burrill W, Burton J, Carder C, Carter NP, Chapman JC, Chen Y, Clarke G, Clark SY, Clee CM, Clegg S, Collier RE, Corby N, Crosier M, Cummings AT, Davies J, Dhami P, Dunn M, Dutta I, Dyer LW, Earthrowl ME, Faulkner L, Fleming CJ, Frankish A, Frankland JA, French L, Fricker DG, Garner P, Garnett J, Ghori J, Gilbert JG, Glison C, Grafham DV, Gribble S, Griffiths C, Griffiths-Jones S, Grocock R, Guy J, Hall RE, Hammond S, Harley JL, Harrison ES, Hart EA, Heath PD, Henderson CD, Hopkins BL, Howard PJ, Howden PJ, Huckle E, Johnson C, Johnson D, Joy AA, Kay M, Keenan S, Kershaw JK, Kimberley AM, King A, Knights A, Laird GK, Langford C, Lawlor S, Leongamornlert DA, Leversha M, Lloyd C, Lloyd DM, Lovell J, Martin S, Mashreghi-Mohammadi M, Matthews L, McLaren S, McLay KE, McMurray A, Milne S, Nickerson T, Nisbett J, Nordsiek G, Pearce AV, Peck AI, Porter KM, Pandian R, Pelan S, Phillimore B, Povey S, Ramsey Y, Rand V, Scharfe M, Sehra HK, Shownkeen R, Sims SK, Skuce CD, Smith M, Steward CA, Swarbreck D, Sycamore N, Tester J, Thorpe A, Tracey A, Tromans A, Thomas DW, Wall M, Wallis JM, West AP, Whitehead SL, Willey DL, Williams SA, Wilming L, Wray PW, Young L, Ashurst JL, Coulson A, Blocker H, Durbin R, Sulston JE, Hubbard T, Jackson MJ, Bentley DR, Beck S, Rogers J, Dunham I: DNA sequence and analysis of human chromosome 9. Nature. 2004 May 27;429(6990):369-74. [PubMed:15164053 ]
  3. Lesca G, Plauchu H, Coulet F, Lefebvre S, Plessis G, Odent S, Riviere S, Leheup B, Goizet C, Carette MF, Cordier JF, Pinson S, Soubrier F, Calender A, Giraud S: Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France. Hum Mutat. 2004 Apr;23(4):289-99. [PubMed:15024723 ]
  4. Kuehl HK, Caselitz M, Hasenkamp S, Wagner S, El-Harith el-HA, Manns MP, Stuhrmann M: Hepatic manifestation is associated with ALK1 in hereditary hemorrhagic telangiectasia: identification of five novel ALK1 and one novel ENG mutations. Hum Mutat. 2005 Mar;25(3):320. [PubMed:15712270 ]
  5. Meng Q, Lux A, Holloschi A, Li J, Hughes JM, Foerg T, McCarthy JE, Heagerty AM, Kioschis P, Hafner M, Garland JM: Identification of Tctex2beta, a novel dynein light chain family member that interacts with different transforming growth factor-beta receptors. J Biol Chem. 2006 Dec 1;281(48):37069-80. Epub 2006 Sep 18. [PubMed:16982625 ]
  6. Castonguay R, Werner ED, Matthews RG, Presman E, Mulivor AW, Solban N, Sako D, Pearsall RS, Underwood KW, Seehra J, Kumar R, Grinberg AV: Soluble endoglin specifically binds bone morphogenetic proteins 9 and 10 via its orphan domain, inhibits blood vessel formation, and suppresses tumor growth. J Biol Chem. 2011 Aug 26;286(34):30034-46. doi: 10.1074/jbc.M111.260133. Epub 2011 Jul 7. [PubMed:21737454 ]
  7. Nolan-Stevaux O, Zhong W, Culp S, Shaffer K, Hoover J, Wickramasinghe D, Ruefli-Brasse A: Endoglin requirement for BMP9 signaling in endothelial cells reveals new mechanism of action for selective anti-endoglin antibodies. PLoS One. 2012;7(12):e50920. doi: 10.1371/journal.pone.0050920. Epub 2012 Dec 27. [PubMed:23300529 ]
  8. Saito T, Bokhove M, Croci R, Zamora-Caballero S, Han L, Letarte M, de Sanctis D, Jovine L: Structural Basis of the Human Endoglin-BMP9 Interaction: Insights into BMP Signaling and HHT1. Cell Rep. 2017 May 30;19(9):1917-1928. doi: 10.1016/j.celrep.2017.05.011. [PubMed:28564608 ]
  9. Lee NY, Blobe GC: The interaction of endoglin with beta-arrestin2 regulates transforming growth factor-beta-mediated ERK activation and migration in endothelial cells. J Biol Chem. 2007 Jul 20;282(29):21507-17. doi: 10.1074/jbc.M700176200. Epub 2007 May 31. [PubMed:17540773 ]
  10. Bellon T, Corbi A, Lastres P, Cales C, Cebrian M, Vera S, Cheifetz S, Massague J, Letarte M, Bernabeu C: Identification and expression of two forms of the human transforming growth factor-beta-binding protein endoglin with distinct cytoplasmic regions. Eur J Immunol. 1993 Sep;23(9):2340-5. doi: 10.1002/eji.1830230943. [PubMed:8370410 ]
  11. Gougos A, Letarte M: Primary structure of endoglin, an RGD-containing glycoprotein of human endothelial cells. J Biol Chem. 1990 May 25;265(15):8361-4. [PubMed:1692830 ]
  12. McAllister KA, Grogg KM, Johnson DW, Gallione CJ, Baldwin MA, Jackson CE, Helmbold EA, Markel DS, McKinnon WC, Murrell J, et al.: Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1. Nat Genet. 1994 Dec;8(4):345-51. doi: 10.1038/ng1294-345. [PubMed:7894484 ]
  13. Alt A, Miguel-Romero L, Donderis J, Aristorena M, Blanco FJ, Round A, Rubio V, Bernabeu C, Marina A: Structural and functional insights into endoglin ligand recognition and binding. PLoS One. 2012;7(2):e29948. doi: 10.1371/journal.pone.0029948. Epub 2012 Feb 8. [PubMed:22347366 ]
  14. Shovlin CL, Hughes JM, Scott J, Seidman CE, Seidman JG: Characterization of endoglin and identification of novel mutations in hereditary hemorrhagic telangiectasia. Am J Hum Genet. 1997 Jul;61(1):68-79. doi: 10.1086/513906. [PubMed:9245986 ]
  15. Yamaguchi H, Azuma H, Shigekiyo T, Inoue H, Saito S: A novel missense mutation in the endoglin gene in hereditary hemorrhagic telangiectasia. Thromb Haemost. 1997 Feb;77(2):243-7. [PubMed:9157574 ]
  16. Gallione CJ, Klaus DJ, Yeh EY, Stenzel TT, Xue Y, Anthony KB, McAllister KA, Baldwin MA, Berg JN, Lux A, Smith JD, Vary CP, Craigen WJ, Westermann CJ, Warner ML, Miller YE, Jackson CE, Guttmacher AE, Marchuk DA: Mutation and expression analysis of the endoglin gene in hereditary hemorrhagic telangiectasia reveals null alleles. Hum Mutat. 1998;11(4):286-94. doi: 10.1002/(SICI)1098-1004(1998)11:4<286::AID-HUMU6>3.0.CO;2-B. [PubMed:9554745 ]
  17. Gallione CJ, Scheessele EA, Reinhardt D, Duits AJ, Berg JN, Westermann CJ, Marchuk DA: Two common endoglin mutations in families with hereditary hemorrhagic telangiectasia in the Netherlands Antilles: evidence for a founder effect. Hum Genet. 2000 Jul;107(1):40-4. doi: 10.1007/s004390000326. [PubMed:10982033 ]
  18. Cymerman U, Vera S, Pece-Barbara N, Bourdeau A, White RI Jr, Dunn J, Letarte M: Identification of hereditary hemorrhagic telangiectasia type 1 in newborns by protein expression and mutation analysis of endoglin. Pediatr Res. 2000 Jan;47(1):24-35. doi: 10.1203/00006450-200001000-00008. [PubMed:10625079 ]
  19. Bossler AD, Richards J, George C, Godmilow L, Ganguly A: Novel mutations in ENG and ACVRL1 identified in a series of 200 individuals undergoing clinical genetic testing for hereditary hemorrhagic telangiectasia (HHT): correlation of genotype with phenotype. Hum Mutat. 2006 Jul;27(7):667-75. doi: 10.1002/humu.20342. [PubMed:16752392 ]
  20. Argyriou L, Twelkemeyer S, Panchulidze I, Wehner LE, Teske U, Engel W, Nayernia K: Novel mutations in the ENG and ACVRL1 genes causing hereditary hemorrhagic teleangiectasia. Int J Mol Med. 2006 Apr;17(4):655-9. [PubMed:16525724 ]
  21. Richards-Yutz J, Grant K, Chao EC, Walther SE, Ganguly A: Update on molecular diagnosis of hereditary hemorrhagic telangiectasia. Hum Genet. 2010 Jul;128(1):61-77. doi: 10.1007/s00439-010-0825-4. Epub 2010 Apr 23. [PubMed:20414677 ]