ACVRL1

It shares with other type I receptors a high degree of similarity in serine-threonine kinase subdomains, a glycine- and serine-rich region (called the GS domain) preceding the kinase domain, and a short C-terminal tail.Mutations in this gene are associated with hereditary hemorrhagic telangiectasia (HHT) type 2, also known as Rendu-Osler-Weber syndrome 2.[10] ACVRL1 directly interacts with low-density lipoprotein (LDL), which implies that it might initiate the early phases of atherosclerosis.(Not to be confused with anaplastic lymphoma kinase (ALK) ) ALK4 is ACVR1B, ALK7 is ACVR1C, and ALK5 is [part of] the TGF-β type I receptor.[13] This article incorporates text from the United States National Library of Medicine, which is in the public domain.
AliasesHomoloGeneGeneCardsChromosome 12 (human)RNA expressionGene ontologyOrthologsEntrezEnsemblUniProtPubMedWikidataenzymeTGF beta signaling pathwayGermline mutationshereditary hemorrhagic telangiectasiaarteriovenous malformationsSomatic mosaicismpulmonary arterial hypertensionlow-density lipoproteinatherosclerosisanaplastic lymphoma kinaseACVR1BACVR1CTGF-β type I receptorBibcodeUCSC Genome BrowserUnited States National Library of Medicinepublic domainCell signalingTGFβ signaling pathwayTGF beta superfamily of ligandsTGF beta familyTGF-β1TGF-β2TGF-β3Activin and inhibinBone morphogenetic proteinsGrowth differentiation factorsMyostatin/GDF8Anti-müllerian hormoneTGF beta receptorsActivinfamilyActivin type 1 receptorsBMPR1ABMPR1BActivin type 2 receptorsACVR2AACVR2BbetaglycanTransducersR-SMADI-SMADCerberusChordinDecorinFollistatinGremlinNogginCoreceptorsCriptoKinasesSerine/threonine-specific protein kinasesNon-specific serine/threonine protein kinasesSTK38LProtein kinase BAtaxia telangiectasia mutatedEIF-2 kinasesEIF2AK3EIF2AK4Pyruvate dehydrogenase kinaseDephospho-(reductase kinase) kinaseAMP-activated protein kinasePRKAA1PRKAA2PRKAB1PRKAB2PRKAG1PRKAG2PRKAG33-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring) kinaseBCKDHABCKDHB(isocitrate dehydrogenase (NADP+)) kinase(tyrosine 3-monooxygenase) kinaseMyosin-heavy-chain kinaseAurora kinaseAurora A kinaseAurora B kinaseAurora C kinaseFas-activated serine/threonine kinaseGoodpasture-antigen-binding protein kinaseIκB kinaseIKBKAPcAMP-dependent protein kinaseProtein kinase APRKACGPRKACBPRKACAcGMP-dependent protein kinaseProtein kinase GProtein kinase CProtein kinase CζPKC alphaPRKCB1Protein kinase N1Rhodopsin kinaseBeta adrenergic receptor kinaseBeta adrenergic receptor kinase-2G-protein coupled receptor kinasesCa2+/calmodulin-dependentCAMK1DCAMK2ACAMK2BCAMK2DCAMK2GMAPKAPK2MAPKAPK3MAPKAPK5SNF1LK2KIAA0999SNF1LKKalirinMyosin light-chain kinasePhosphorylase kinaseElongation factor 2 kinasePolo kinaseCyclin-dependent kinaseCDC2L5CDC2L1(RNA-polymerase)-subunit kinaseRPS6KA5RPS6KA4P70S6 kinaseP70-S6 Kinase 1RPS6KB2RPS6KA2RPS6KA3RPS6KA1RPS6KC1Mitogen-activated protein kinaseExtracellular signal-regulatedMAPK12MAPK15C-Jun N-terminalMAPK10P38 mitogen-activated proteinMAPK11MAPK13MAPK14MAP kinase kinase kinasesMAP3K1MAP3K2MAP3K3MAP3K4MAP3K5MAP3K7MAP3K8MAP3K12MAP3K13MAP3K9MAP3K10MAP3K11MAP3K14Tau-protein kinase(acetyl-CoA carboxylase) kinaseTropomyosin kinaseLow-density-lipoprotein receptor kinaseReceptor protein serine/threonine kinaseBone morphogenetic protein receptorsAnti-Müllerian hormone receptorDual-specificity kinasesMAP2K1MAP2K2MAP2K3MAP2K4MAP2K5MAP2K6MAP2K7EnzymesActive siteBinding siteCatalytic triadOxyanion holeEnzyme promiscuityDiffusion-limited enzymeCofactorEnzyme catalysisAllosteric regulationCooperativityEnzyme inhibitorEnzyme activatorEC numberEnzyme superfamilyEnzyme familyList of enzymesEnzyme kineticsEadie–Hofstee diagramHanes–Woolf plotLineweaver–Burk plotMichaelis–Menten kineticsOxidoreductasesTransferasesHydrolasesLyasesIsomerasesLigasesTranslocasesTGFβ receptor superfamilymodulatorsALK1 (ACVRL1)Avotermin2 (BMP9)AscrinvacumabDalanterceptALK2 (ACVR1A)AMH (MIS)Eptotermin alfaALK3 (BMPR1A)Dibotermin alfaALK4 (ACVR1B)11 (BMP11)Myostatin (GDF8)InhibinSB-431542ALK5 (TGFβR1)10 (BMP3B)FresolimumabLerdelimumabMetelimumabLY-2109761Galunisertib (LY-2157299)RepSox (E-616452, SJN-2511)ALK6 (BMPR1B)15 (GDF9B)5 (BMP14)6 (BMP13)7 (BMP12)ALK7 (ACVR1C)TGFβR2ACVR2A (ACVR2)SotaterceptOsteogenin (BMP3, BMP3A)AMHR2 (AMHR)TGFβR3 (β-glycan)Cerberus (CER1)DAN (PARN)Gremlin (Drm)Thrombospondin 1 (THBS1)StamulumabTRC105Endoglin