EGLN_HUMAN » Endoglin

EGLN_HUMAN » Endoglin
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Topology in Plasma membrane
Topologyextracellular side
cytoplasmic side
EGLN_HUMAN » Endoglin »
Hydrophobic Thickness 32.0 ± 1.0 Å
Tilt Angle 26 ± 0°
ΔGtransfer -44.4 kcal/mol
ΔGfold -20.4 kcal/mol
Links UniProtKB, Pfam, Interpro, iHOP, STRING, HGNC
Topology Out
TM Segments 588-613 (588-619)
Pathways none
PDB none
OPM none
Complexes none
Interactions

ACVL1, Complex: EGLN:ACVL1, PubMed

ACVR1, Complex: EGLN:ACVR1, PubMed

AVR2A, Complex: EGLN:AVR2A, PubMed

AVR2B, Complex: EGLN:AVR2B, PubMed

ITA5, Complex: EGLN:ITA5, PubMed

ITB1, Complex: EGLN:ITB1, PubMed

MMP14, Complex: EGLN:MMP14, PubMed

TGBR3, Complex: EGLN:TGBR3, PubMed

TGFR1, Complex: EGLN:TGFR1, PubMed

TGFR2, Complex: TGFR2:EGLN, PubMed

Domains

AA: 363-564, PDBID: 3QW9, Subunit A, Seq Identity:15%, Zona pellucida-like domain

UniProt annotation for EGLN_HUMAN » Endoglin
FUNCTION: Major glycoprotein of vascular endothelium. Involved in the regulation of angiogenesis. May play a critical role in the binding of endothelial cells to integrins and/or other RGD receptors. Acts as TGF-beta coreceptor and is involved in the TGF- beta/BMP signaling cascade. Required for GDF2/BMP9 signaling through SMAD1 in endothelial cells and modulates TGF-beta1 signaling through SMAD3.

SUBUNIT: Homodimer that forms a heteromeric complex with the signaling receptors for transforming growth factor-beta: TGFBR1 and/or TGFBR2. It is able to bind TGF-beta 1, and 3 efficiently and TGF-beta 2 less efficiently. Interacts with TCTEX1D4. Interacts with ARRB2. Interacts with GDF2.

TISSUE SPECIFICITY: Endoglin is restricted to endothelial cells in all tissues except bone marrow.

DISEASE: Telangiectasia, hereditary hemorrhagic, 1 (HHT1) OMIM: A multisystemic vascular dysplasia leading to dilation of permanent blood vessels and arteriovenous malformations of skin, mucosa, and viscera. The disease is characterized by recurrent epistaxis and gastro-intestinal hemorrhage. Visceral involvement includes arteriovenous malformations of the lung, liver, and brain. mutations affecting the gene represented in this entry.

UniProt features for EGLN_HUMAN » Endoglin
SIGNAL 1 25
CHAIN 26 658 Endoglin.
MOTIF 399 401 Cell attachment site (Potential).
Amino Acid Sequence for EGLN_HUMAN » Endoglin
MDRGTLPLAV ALLLASCSLS PTSLAETVHC DLQPVGPERG EVTYTTSQVS KGCVAQAPNA ILEVHVLFLE FPTGPSQLEL TLQASKQNGT WPREVLLVLS VNSSVFLHLQ ALGIPLHLAY NSSLVTFQEP PGVNTTELPS FPKTQILEWA AERGPITSAA ELNDPQSILL RLGQAQGSLS FCMLEASQDM GRTLEWRPRT PALVRGCHLE GVAGHKEAHI LRVLPGHSAG PRTVTVKVEL SCAPGDLDAV LILQGPPYVS WLIDANHNMQ IWTTGEYSFK IFPEKNIRGF KLPDTPQGLL GEARMLNASI VASFVELPLA SIVSLHASSC GGRLQTSPAP IQTTPPKDTC SPELLMSLIQ TKCADDAMTL VLKKELVAHL KCTITGLTFW DPSCEAEDRG DKFVLRSAYS SCGMQVSASM ISNEAVVNIL SSSSPQRKKV HCLNMDSLSF QLGLYLSPHF LQASNTIEPG QQSFVQVRVS PSVSEFLLQL DSCHLDLGPE GGTVELIQGR AAKGNCVSLL SPSPEGDPRF SFLLHFYTVP IPKTGTLSCT VALRPKTGSQ DQEVHRTVFM RLNIISPDLS GCTSKGLVLP AVLGITFGAF LIGALLTAAL WYIYSHTRSP SKREPVVAVA APASSESSST NHSIGSTQST PCSTSSMA