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ENG англ Endoglin білок який кодується однойменним геном розташованим у людей на короткому плечі 9 ї хромосоми Довжина п

ENG

ENG

ENG (англ. Endoglin) – білок, який кодується однойменним геном, розташованим у людей на короткому плечі 9-ї хромосоми. Довжина поліпептидного ланцюга білка становить 658 амінокислот, а молекулярна маса — 70 578.

ENG
Ідентифікатори
Символи ENG, Eng, AI528660, AI662476, CD105, Endo, S-endoglin, END, HHT1, ORW1, endoglin
Зовнішні ІД OMIM: 131195 MGI: 95392 HomoloGene: 92 GeneCards: ENG
Пов'язані генетичні захворювання
хвороба Рандю — Ослера
Шаблон експресії
image

image
Більше даних
Ортологи
Види Людина Миша
Entrez
2022
13805
Ensembl
ENSG00000106991
ENSMUSG00000026814
UniProt
P17813
Q96CG0
Q63961
RefSeq (мРНК)
NM_000118
NM_001114753
NM_001278138
NM_001146348
NM_001146350
NM_007932
RefSeq (білок)
NP_000109
NP_001108225
NP_001265067
NP_001108225.1
NP_001265067.1
NP_001139820
NP_001139822
NP_031958
Локус (UCSC) Хр. 9: 127.82 – 127.85 Mb Хр. 2: 32.54 – 32.57 Mb
PubMed search
Вікідані
Див./Ред. для людейДив./Ред. для мишей
Послідовність амінокислот
1020304050
MDRGTLPLAVALLLASCSLSPTSLAETVHCDLQPVGPERGEVTYTTSQVS
KGCVAQAPNAILEVHVLFLEFPTGPSQLELTLQASKQNGTWPREVLLVLS
VNSSVFLHLQALGIPLHLAYNSSLVTFQEPPGVNTTELPSFPKTQILEWA
AERGPITSAAELNDPQSILLRLGQAQGSLSFCMLEASQDMGRTLEWRPRT
PALVRGCHLEGVAGHKEAHILRVLPGHSAGPRTVTVKVELSCAPGDLDAV
LILQGPPYVSWLIDANHNMQIWTTGEYSFKIFPEKNIRGFKLPDTPQGLL
GEARMLNASIVASFVELPLASIVSLHASSCGGRLQTSPAPIQTTPPKDTC
SPELLMSLIQTKCADDAMTLVLKKELVAHLKCTITGLTFWDPSCEAEDRG
DKFVLRSAYSSCGMQVSASMISNEAVVNILSSSSPQRKKVHCLNMDSLSF
QLGLYLSPHFLQASNTIEPGQQSFVQVRVSPSVSEFLLQLDSCHLDLGPE
GGTVELIQGRAAKGNCVSLLSPSPEGDPRFSFLLHFYTVPIPKTGTLSCT
VALRPKTGSQDQEVHRTVFMRLNIISPDLSGCTSKGLVLPAVLGITFGAF
LIGALLTAALWYIYSHTRSPSKREPVVAVAAPASSESSSTNHSIGSTQST
PCSTSSMA

Кодований геном білок за функцією належить до фосфопротеїнів. Задіяний у таких біологічних процесах, як клітинна адгезія, ангіогенез, альтернативний сплайсинг. Локалізований у мембрані.

Література

  • Lee N.Y., Blobe G.C. (2007). The interaction of endoglin with beta-arrestin2 regulates transforming growth factor-beta-mediated ERK activation and migration in endothelial cells. J. Biol. Chem. 282: 21507—21517. PMID 17540773 DOI:10.1074/jbc.M700176200
  • Shovlin C.L., Hughes J.M.B., Scott J., Seidman C.E., Seidman J.G. (1997). Characterization of endoglin and identification of novel mutations in hereditary hemorrhagic telangiectasia. Am. J. Hum. Genet. 61: 68—79. PMID 9245986 DOI:10.1086/513906
  • Pece-Barbara N., Cymerman U., Vera S., Marchuk D.A., Letarte M. (1999). Expression analysis of four endoglin missense mutations suggests that haploinsufficiency is the predominant mechanism for hereditary hemorrhagic telangiectasia type 1. Hum. Mol. Genet. 8: 2171—2181. PMID 10545596 DOI:10.1093/hmg/8.12.2171
  • Bossler A.D., Richards J., George C., Godmilow L., Ganguly A. (2006). 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. 27: 667—675. PMID 16752392 DOI:10.1002/humu.20342
  • Richards-Yutz J., Grant K., Chao E.C., Walther S.E., Ganguly A. (2010). Update on molecular diagnosis of hereditary hemorrhagic telangiectasia. Hum. Genet. 128: 61—77. PMID 20414677 DOI:10.1007/s00439-010-0825-4
  • Gougos A., Letarte M. (1990). Primary structure of endoglin, an RGD-containing glycoprotein of human endothelial cells. J. Biol. Chem. 265: 8361—8364. PMID 1692830

Примітки

  1. Захворювання, генетично пов'язані з ENG переглянути/редагувати посилання на ВікіДаних.
  2. Human PubMed Reference:.
  3. Mouse PubMed Reference:.
  4. HUGO Gene Nomenclature Commitee, HGNC:3349 (англ.) . Процитовано 7 вересня 2017.
  5. (англ.) . Архів оригіналу за 1 вересня 2017. Процитовано 7 вересня 2017.

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ENG angl Endoglin bilok yakij koduyetsya odnojmennim genom roztashovanim u lyudej na korotkomu plechi 9 yi hromosomi Dovzhina polipeptidnogo lancyuga bilka stanovit 658 aminokislot a molekulyarna masa 70 578 ENGIdentifikatoriSimvoliENG Eng AI528660 AI662476 CD105 Endo S endoglin END HHT1 ORW1 endoglinZovnishni ID OMIM 131195 MGI 95392 HomoloGene 92 GeneCards ENGPov yazani genetichni zahvoryuvannyahvoroba Randyu Oslera Ontologiya genaMolekulyarna funkciya type I transforming growth factor beta receptor binding protein homodimerization activity activin binding transforming growth factor beta activated receptor activity galactose binding glycosaminoglycan binding BMP binding GO 0001948 GO 0016582 protein binding transforming growth factor beta binding transmembrane signaling receptor activity type II transforming growth factor beta receptor binding identical protein bindingKlitinna komponenta integral component of membrane membrana focal adhesion receptor complex endothelial microparticle external side of plasma membrane cell surface mizhklitinnij prostir klitinna membranaBiologichnij proces cell migration involved in endocardial cushion formation response to hypoxia GO 0009373 regulation of transcription DNA templated negative regulation of nitric oxide synthase activity negative regulation of protein autophosphorylation venous blood vessel morphogenesis cell motility positive regulation of pathway restricted SMAD protein phosphorylation regulation of phosphorylation extracellular matrix disassembly positive regulation of systemic arterial blood pressure Zagoyennya ran GO 1901227 negative regulation of transcription by RNA polymerase II negative regulation of transforming growth factor beta receptor signaling pathway BMP signaling pathway negative regulation of pathway restricted SMAD protein phosphorylation positive regulation of angiogenesis negative regulation of endothelial cell proliferation vaskulogenez heart looping heart development regulation of cell adhesion adgeziya klitin negative regulation of cell migration regulation of cell population proliferation Angiogenez artery morphogenesis central nervous system vasculogenesis smooth muscle tissue development positive regulation of BMP signaling pathway branching involved in blood vessel morphogenesis cell chemotaxis transforming growth factor beta receptor signaling pathway cell migration detection of hypoxia regulation of transforming growth factor beta receptor signaling pathway GO 1901313 positive regulation of gene expression regulation of cardiac muscle cell apoptotic process bone development positive regulation of protein phosphorylation endocardial cushion to mesenchymal transition sprouting angiogenesis response to corticosteroid extracellular matrix constituent secretion regulation of cell proliferation involved in heart morphogenesis response to transforming growth factor beta positive regulation of collagen biosynthetic process cellular response to mechanical stimulus outflow tract septum morphogenesis epithelial to mesenchymal transition involved in endocardial cushion formation endocardial cushion morphogenesis cardiac ventricle morphogenesis cardiac atrium morphogenesis ventricular trabecula myocardium morphogenesis negative regulation of gene expression dorsal aorta morphogenesis GO 0003257 GO 0010735 GO 1901228 GO 1900622 GO 1904488 positive regulation of transcription by RNA polymerase II atrial cardiac muscle tissue morphogenesis vascular associated smooth muscle cell development positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation positive regulation of vascular associated smooth muscle cell differentiation atrioventricular canal morphogenesis regulation of cardiac neural crest cell migration involved in outflow tract morphogenesis positive regulation of protein kinase B signalingDzherela Amigo QuickGOShablon ekspresiyiBilshe danihOrtologiVidi Lyudina MishaEntrez2022 13805Ensembl ENSG00000106991 ENSMUSG00000026814UniProt P17813 Q96CG0 Q63961RefSeq mRNK NM 000118 NM 001114753 NM 001278138NM 001146348 NM 001146350 NM 007932RefSeq bilok NP 000109 NP 001108225 NP 001265067 NP 001108225 1 NP 001265067 1NP 001139820 NP 001139822 NP 031958Lokus UCSC Hr 9 127 82 127 85 MbHr 2 32 54 32 57 MbPubMed searchVikidaniDiv Red dlya lyudejDiv Red dlya mishej Poslidovnist aminokislot1020304050 MDRGTLPLAVALLLASCSLSPTSLAETVHCDLQPVGPERGEVTYTTSQVS KGCVAQAPNAILEVHVLFLEFPTGPSQLELTLQASKQNGTWPREVLLVLS VNSSVFLHLQALGIPLHLAYNSSLVTFQEPPGVNTTELPSFPKTQILEWA AERGPITSAAELNDPQSILLRLGQAQGSLSFCMLEASQDMGRTLEWRPRT PALVRGCHLEGVAGHKEAHILRVLPGHSAGPRTVTVKVELSCAPGDLDAV LILQGPPYVSWLIDANHNMQIWTTGEYSFKIFPEKNIRGFKLPDTPQGLL GEARMLNASIVASFVELPLASIVSLHASSCGGRLQTSPAPIQTTPPKDTC SPELLMSLIQTKCADDAMTLVLKKELVAHLKCTITGLTFWDPSCEAEDRG DKFVLRSAYSSCGMQVSASMISNEAVVNILSSSSPQRKKVHCLNMDSLSF QLGLYLSPHFLQASNTIEPGQQSFVQVRVSPSVSEFLLQLDSCHLDLGPE GGTVELIQGRAAKGNCVSLLSPSPEGDPRFSFLLHFYTVPIPKTGTLSCT VALRPKTGSQDQEVHRTVFMRLNIISPDLSGCTSKGLVLPAVLGITFGAF LIGALLTAALWYIYSHTRSPSKREPVVAVAAPASSESSSTNHSIGSTQST PCSTSSMA A Alanin C Cisteyin D Asparaginova kislota E Glutaminova kislota F Fenilalanin G Glicin H Gistidin I Izolejcin K Lizin L Lejcin M Metionin N Asparagin P Prolin Q Glutamin R Arginin S Serin T Treonin V Valin W Triptofan Y Tirozin Kodovanij genom bilok za funkciyeyu nalezhit do fosfoproteyiniv Zadiyanij u takih biologichnih procesah yak klitinna adgeziya angiogenez alternativnij splajsing Lokalizovanij u membrani LiteraturaLee N Y Blobe G C 2007 The interaction of endoglin with beta arrestin2 regulates transforming growth factor beta mediated ERK activation and migration in endothelial cells J Biol Chem 282 21507 21517 PMID 17540773 DOI 10 1074 jbc M700176200 Shovlin C L Hughes J M B Scott J Seidman C E Seidman J G 1997 Characterization of endoglin and identification of novel mutations in hereditary hemorrhagic telangiectasia Am J Hum Genet 61 68 79 PMID 9245986 DOI 10 1086 513906 Pece Barbara N Cymerman U Vera S Marchuk D A Letarte M 1999 Expression analysis of four endoglin missense mutations suggests that haploinsufficiency is the predominant mechanism for hereditary hemorrhagic telangiectasia type 1 Hum Mol Genet 8 2171 2181 PMID 10545596 DOI 10 1093 hmg 8 12 2171 Bossler A D Richards J George C Godmilow L Ganguly A 2006 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 27 667 675 PMID 16752392 DOI 10 1002 humu 20342 Richards Yutz J Grant K Chao E C Walther S E Ganguly A 2010 Update on molecular diagnosis of hereditary hemorrhagic telangiectasia Hum Genet 128 61 77 PMID 20414677 DOI 10 1007 s00439 010 0825 4 Gougos A Letarte M 1990 Primary structure of endoglin an RGD containing glycoprotein of human endothelial cells J Biol Chem 265 8361 8364 PMID 1692830PrimitkiZahvoryuvannya genetichno pov yazani z ENG pereglyanuti redaguvati posilannya na VikiDanih Human PubMed Reference Mouse PubMed Reference HUGO Gene Nomenclature Commitee HGNC 3349 angl Procitovano 7 veresnya 2017 angl Arhiv originalu za 1 veresnya 2017 Procitovano 7 veresnya 2017 Div takozhHromosoma 9 Ce nezavershena stattya pro bilki Vi mozhete dopomogti proyektu vipravivshi abo dopisavshi yiyi

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