ACVL1_HUMAN » Serine/threonine-protein kinase receptor R3

ACVL1_HUMAN » Serine/threonine-protein kinase receptor R3
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Topology in Plasma membrane
Topologyextracellular side
cytoplasmic side
ACVL1_HUMAN » Serine/threonine-protein kinase receptor R3 » SKR3; Activin receptor-like kinase 1;ALK-1; TGF-B superfamily receptor type I;TSR-I;
Hydrophobic Thickness 36.4 ± 2.8 Å
Tilt Angle 3 ± 3°
ΔGtransfer -28.8 kcal/mol
ΔGfold -21.9 kcal/mol
Links UniProtKB, Pfam, Interpro, iHOP, STRING, HGNC, HMDB
Topology Out
TM Segments 119-143 (116-151)
Pathways none
PDB 3my0 (195-497), 2lcr (22-118), 4fao (C/D...=22-118)
OPM none
Complexes

ACVL1:AVR2B:GDF2_HUMAN

Interactions

AVR2A, Complex: ACVL1:AVR2A, PubMed

AVR2B, Complex: ACVL1:AVR2B:GDF2, PDBID: 4FAO

BAMBI, Complex: ACVL1:BAMBI, PubMed

EGLN, Complex: EGLN:ACVL1, PubMed

ITA5, Complex: ACVL1:ITA5, PubMed

TGBR3, Complex: ACVL1:TGBR3, PubMed

TGFR1, Complex: ACVL1:TGFR1, PubMed

TGFR2, Complex: ACVL1:TGFR2, PubMed

Domains

AA: 173-200, PDBID: 3MY0, Subunit H, Seq Identity:100%, Transforming growth factor beta type I GS-motif

AA: 202-489, PDBID: 3MY0, Subunit H, Seq Identity:100%, Protein tyrosine kinase

UniProt annotation for ACVL1_HUMAN » Serine/threonine-protein kinase receptor R3
FUNCTION: Type I receptor for TGF-beta family ligands BMP9/GDF2 and BMP10 and important regulator of normal blood vessel development. On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. May bind activin as well.

CATALYTIC ACTIVITY: ATP + [receptor-protein] = ADP + [receptor- protein] phosphate.

DISEASE: Telangiectasia, hereditary hemorrhagic, 2 (HHT2) 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. disease is caused by mutations affecting the gene represented in this entry.

UniProt features for ACVL1_HUMAN » Serine/threonine-protein kinase receptor R3
SIGNAL 1 21 Potential.
CHAIN 22 503 Serine/threonine-protein kinase receptor R3.
DOMAIN 172 201 GS.
DOMAIN 202 492 Protein kinase.
REGION 73 76 Mediates specificity for BMP ligand.
ACT_SITE 330 330 Proton acceptor (By similarity).
DISULFID 34 51
DISULFID 36 41
DISULFID 46 69
DISULFID 77 89
DISULFID 90 95
Amino Acid Sequence for ACVL1_HUMAN » Serine/threonine-protein kinase receptor R3
MTLGSPRKGL LMLLMALVTQ GDPVKPSRGP LVTCTCESPH CKGPTCRGAW CTVVLVREEG RHPQEHRGCG NLHRELCRGR PTEFVNHYCC DSHLCNHNVS LVLEATQPPS EQPGTDGQLA LILGPVLALL ALVALGVLGL WHVRRRQEKQ RGLHSELGES SLILKASEQG DSMLGDLLDS DCTTGSGSGL PFLVQRTVAR QVALVECVGK GRYGEVWRGL WHGESVAVKI FSSRDEQSWF RETEIYNTVL LRHDNILGFI ASDMTSRNSS TQLWLITHYH EHGSLYDFLQ RQTLEPHLAL RLAVSAACGL AHLHVEIFGT QGKPAIAHRD FKSRNVLVKS NLQCCIADLG LAVMHSQGSD YLDIGNNPRV GTKRYMAPEV LDEQIRTDCF ESYKWTDIWA FGLVLWEIAR RTIVNGIVED YRPPFYDVVP NDPSFEDMKK VVCVDQQTPT IPNRLAADPV LSGLAQMMRE CWYPNPSARL TALRIKKTLQ KISNSPEKPK VIQ