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Protein

Endoglin

Gene

Eng

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Vascular endothelium glycoprotein that plays an important role in the regulation of angiogenesis (PubMed:10625534). Required for normal structure and integrity of adult vasculature (By similarity). Regulates the migration of vascular endothelial cells (PubMed:17540773). Required for normal extraembryonic angiogenesis and for embryonic heart development (PubMed:10625534). May play a role in the binding of endothelial cells to integrins. 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:23300529). Required for GDF2/BMP9 signaling through SMAD1 in endothelial cells and modulates TGFB1 signaling through SMAD3 (By similarity).By similarity3 Publications

Miscellaneous

Lacks a RGD motif, contrary to the human protein.Curated

GO - Molecular functioni

GO - Biological processi

  • angiogenesis Source: MGI
  • artery morphogenesis Source: BHF-UCL
  • atrial cardiac muscle tissue morphogenesis Source: BHF-UCL
  • atrioventricular canal morphogenesis Source: BHF-UCL
  • branching involved in blood vessel morphogenesis Source: BHF-UCL
  • cardiac atrium morphogenesis Source: BHF-UCL
  • cardiac ventricle morphogenesis Source: BHF-UCL
  • cell adhesion Source: UniProtKB-KW
  • cell chemotaxis Source: MGI
  • cell migration Source: MGI
  • cell migration involved in endocardial cushion formation Source: MGI
  • cell motility Source: MGI
  • central nervous system vasculogenesis Source: MGI
  • chronological cell aging Source: BHF-UCL
  • detection of hypoxia Source: MGI
  • dorsal aorta morphogenesis Source: BHF-UCL
  • endocardial cushion morphogenesis Source: BHF-UCL
  • epithelial to mesenchymal transition involved in endocardial cushion formation Source: BHF-UCL
  • extracellular matrix disassembly Source: MGI
  • heart development Source: MGI
  • heart looping Source: BHF-UCL
  • negative regulation of cell migration Source: MGI
  • negative regulation of endothelial cell proliferation Source: MGI
  • negative regulation of gene expression Source: BHF-UCL
  • negative regulation of nitric-oxide synthase activity Source: MGI
  • negative regulation of pathway-restricted SMAD protein phosphorylation Source: MGI
  • negative regulation of protein autophosphorylation Source: MGI
  • negative regulation of transcription by RNA polymerase II Source: MGI
  • outflow tract septum morphogenesis Source: BHF-UCL
  • positive regulation of angiogenesis Source: MGI
  • positive regulation of BMP signaling pathway Source: MGI
  • positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation Source: BHF-UCL
  • positive regulation of pathway-restricted SMAD protein phosphorylation Source: MGI
  • positive regulation of protein kinase B signaling Source: Ensembl
  • positive regulation of protein phosphorylation Source: MGI
  • positive regulation of systemic arterial blood pressure Source: MGI
  • positive regulation of transcription by RNA polymerase II Source: BHF-UCL
  • positive regulation of vascular smooth muscle cell differentiation Source: BHF-UCL
  • regulation of transcription, DNA-templated Source: MGI
  • regulation of transforming growth factor beta receptor signaling pathway Source: MGI
  • response to hypoxia Source: MGI
  • smooth muscle tissue development Source: BHF-UCL
  • transforming growth factor beta receptor signaling pathway Source: BHF-UCL
  • vascular smooth muscle cell development Source: BHF-UCL
  • vasculogenesis Source: BHF-UCL
  • venous blood vessel morphogenesis Source: BHF-UCL
  • ventricular trabecula myocardium morphogenesis Source: BHF-UCL
  • wound healing Source: MGI

Keywordsi

Biological processAngiogenesis, Cell adhesion

Names & Taxonomyi

Protein namesi
Recommended name:
Endoglin
Alternative name(s):
Cell surface MJ7/18 antigen
CD_antigen: CD1051 Publication
Gene namesi
Name:Eng
Synonyms:Edg
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaMyomorphaMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 2

Organism-specific databases

MGIiMGI:95392 Eng

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini27 – 581ExtracellularSequence analysisAdd BLAST555
Transmembranei582 – 606HelicalSequence analysisAdd BLAST25
Topological domaini607 – 653CytoplasmicSequence analysisAdd BLAST47

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Disruption phenotypei

Full embryonic lethality at about 10.5 dpc. At 9.5 dpc, embryos display abnormal yolk sac vasculature and yolk sac anemia. Mutant embryos are also anemic, probably due to defective hematopoiesis in the yolk sac. In contrast, the embryonic vasculature appears grossly normal in most cases, but heart development is abnormal, and nearly all mutant embryos had enlarged ventricles and dilated outflow tracts. Besides, many had abnormal cardiac looping and displayed pericardial effusion. Heterozygous mice have occasionally abnormally convoluted and dilated blood vessels with disorganized smooth muscle cells surrounding them; these blood vessels are very fragile and rupture easily.1 Publication

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 26Sequence analysisAdd BLAST26
ChainiPRO_000002115727 – 653EndoglinAdd BLAST627

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi31 ↔ 209By similarity
Disulfide bondi54 ↔ 184By similarity
Glycosylationi89N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi135N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi244 ↔ 330By similarity
Glycosylationi266N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi307N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi322N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi350 ↔ 382By similarity
Disulfide bondi363 ↔ 442By similarity
Disulfide bondi394 ↔ 412By similarity
Disulfide bondi493 ↔ 549By similarity
Disulfide bondi516InterchainBy similarity
Modified residuei641Phosphoserine; by TGFBR11 Publication1
Modified residuei644Phosphoserine; by TGFBR11 Publication1

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

EPDiQ63961
MaxQBiQ63961
PaxDbiQ63961
PRIDEiQ63961

PTM databases

iPTMnetiQ63961
PhosphoSitePlusiQ63961

Expressioni

Tissue specificityi

Detected on blood vessels (at protein level) (PubMed:8194490). Detected on adult pulmonary artery, capillaries supporting the heart muscle and lung alveolar capillary endothelial cells (PubMed:10625534). Endoglin is restricted to endothelial cells in all tissues except bone marrow and is also found in stromal cells within the connective tissue of intestine, stomach, heart, skeletal muscle, uterus, ovary, oviduct, testis and thymus (PubMed:8194490).1 Publication

Developmental stagei

Detected in embryo (at protein level). Detected in endothelium from yolk sac vessels.1 Publication

Gene expression databases

BgeeiENSMUSG00000026814
CleanExiMM_ENG
ExpressionAtlasiQ63961 baseline and differential
GenevisibleiQ63961 MM

Interactioni

Subunit structurei

Homodimer; disulfide-linked (PubMed:8194490). Forms a heteromeric complex with the signaling receptors for transforming growth factor-beta: TGFBR1 and/or TGFBR2. Interacts with TGFB1 (PubMed:8194490). It is able to bind TGFB1 and TGFB2 with high affinity, but not TGFB3. Interacts with GDF2, forming a heterotetramer with a 2:2 stoichiometry. Interacts with ACVRL1. Can form a heteromeric complex with GDF2 and ACVRL1. Interacts with BMP10. Interacts with TCTEX1D4. Interacts with ARRB2.By similarity1 Publication

GO - Molecular functioni

Protein-protein interaction databases

DIPiDIP-47636N
IntActiQ63961, 7 interactors
MINTiQ63961
STRINGi10090.ENSMUSP00000009705

Structurei

3D structure databases

ProteinModelPortaliQ63961
SMRiQ63961
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini363 – 510ZPPROSITE-ProRule annotationAdd BLAST148

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni27 – 337Required for interaction with GDF2By similarityAdd BLAST311
Regioni27 – 47OR1, N-terminal partBy similarityAdd BLAST21
Regioni48 – 201OR2By similarityAdd BLAST154
Regioni202 – 330OR1, C-terminal partBy similarityAdd BLAST129
Regioni270 – 282Essential for interaction with GDF2By similarityAdd BLAST13

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi336 – 574Ser/Thr-richAdd BLAST239

Domaini

The ZP domain mediates dimerization.By similarity
The N-terminal OR region is composed of two intertwined domains (OR1 and OR2) with a common, novel fold. Each contains 12 beta-strands that form a parallel beta-helix-like structure, plus a single alpha-helix. The OR1 region mediates interaction with GDF2.By similarity

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IQ57 Eukaryota
ENOG410YK9H LUCA
GeneTreeiENSGT00530000063861
HOGENOMiHOG000112346
HOVERGENiHBG005573
InParanoidiQ63961
KOiK06526
OMAiDANHNMQ
OrthoDBiEOG091G030O
TreeFamiTF337375

Family and domain databases

InterProiView protein in InterPro
IPR001507 ZP_dom
PfamiView protein in Pfam
PF00100 Zona_pellucida, 1 hit

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q63961-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MDRGVLPLPI TLLFVIYSFV PTTGLAERVG CDLQPVDPTR GEVTFTTSQV
60 70 80 90 100
SEGCVAQAAN AVREVHVLFL DFPGMLSHLE LTLQASKQNG TETQEVFLVL
110 120 130 140 150
VSNKNVFVKF QAPEIPLHLA YDSSLVIFQG QPRVNITVLP SLTSRKQILD
160 170 180 190 200
WAATKGAITS IAALDDPQSI VLQLGQDPKA PFLCLPEAHK DMGATLEWQP
210 220 230 240 250
RAQTPVQSCR LEGVSGHKEA YILRILPGSE AGPRTVTVMM ELSCTSGDAI
260 270 280 290 300
LILHGPPYVS WFIDINHSMQ ILTTGEYSVK IFPGSKVKGV ELPDTPQGLI
310 320 330 340 350
AEARKLNASI VTSFVELPLV SNVSLRASSC GGVFQTTPAP VVTTPPKDTC
360 370 380 390 400
SPVLLMSLIQ PKCGNQVMTL ALNKKHVQTL QCTITGLTFW DSSCQAEDTD
410 420 430 440 450
DHLVLSSAYS SCGMKVTAHV VSNEVIISFP SGSPPLRKKV QCIDMDSLSF
460 470 480 490 500
QLGLYLSPHF LQASNTIELG QQAFVQVSVS PLTSEVTVQL DSCHLDLGPE
510 520 530 540 550
GDMVELIQSR TAKGSCVTLL SPSPEGDPRF SFLLRVYMVP TPTAGTLSCN
560 570 580 590 600
LALRPSTLSQ EVYKTVSMRL NIVSPDLSGK GLVLPSVLGI TFGAFLIGAL
610 620 630 640 650
LTAALWYIYS HTRGPSKREP VVAVAAPASS ESSSTNHSIG STQSTPCSTS

SMA
Length:653
Mass (Da):70,021
Last modified:July 27, 2011 - v2
Checksum:iAD9DD2F823FB06A1
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti94Q → R in CAA54917 (PubMed:8194490).Curated1
Sequence conflicti287V → D in AAB30196 (PubMed:8125301).Curated1
Sequence conflicti572I → V in CAA54917 (PubMed:8194490).Curated1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
S69407 mRNA Translation: AAB30196.1
X77952 mRNA Translation: CAA54917.1
AL772271 Genomic DNA Translation: CAM16615.1
CH466542 Genomic DNA Translation: EDL08562.1
BC029080 mRNA Translation: AAH29080.1
CCDSiCCDS15925.1
PIRiI48341
RefSeqiNP_031958.2, NM_007932.2
UniGeneiMm.225297

Genome annotation databases

EnsembliENSMUST00000009705; ENSMUSP00000009705; ENSMUSG00000026814
GeneIDi13805
KEGGimmu:13805
UCSCiuc008jgk.2 mouse

Similar proteinsi

Entry informationi

Entry nameiEGLN_MOUSE
AccessioniPrimary (citable) accession number: Q63961
Secondary accession number(s): Q61520, Q8K100
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: July 27, 2011
Last modified: April 25, 2018
This is version 139 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health