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Protein

Serine/threonine-protein kinase receptor R3

Gene

ACVRL1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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.3 Publications

Catalytic activityi

ATP + [receptor-protein] = ADP + [receptor-protein] phosphate.

Cofactori

Mg2+By similarity, Mn2+By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei229ATPPROSITE-ProRule annotation1
Active sitei330Proton acceptorPROSITE-ProRule annotation1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi208 – 216ATPPROSITE-ProRule annotation9

GO - Molecular functioni

  • activin binding Source: UniProtKB
  • activin receptor activity, type I Source: MGI
  • ATP binding Source: HGNC
  • BMP receptor activity Source: UniProtKB
  • metal ion binding Source: UniProtKB-KW
  • protein kinase binding Source: BHF-UCL
  • protein serine/threonine kinase activity Source: HGNC
  • receptor signaling protein serine/threonine kinase activity Source: Ensembl
  • SMAD binding Source: HGNC
  • transforming growth factor beta-activated receptor activity Source: MGI
  • transforming growth factor beta binding Source: UniProtKB
  • transforming growth factor beta receptor activity, type I Source: Ensembl
  • transmembrane receptor protein serine/threonine kinase activity Source: UniProtKB

GO - Biological processi

  • angiogenesis Source: HGNC
  • artery development Source: BHF-UCL
  • blood circulation Source: HGNC
  • blood vessel endothelial cell proliferation involved in sprouting angiogenesis Source: DFLAT
  • blood vessel maturation Source: DFLAT
  • blood vessel remodeling Source: BHF-UCL
  • BMP signaling pathway Source: BHF-UCL
  • cellular response to BMP stimulus Source: BHF-UCL
  • cellular response to transforming growth factor beta stimulus Source: BHF-UCL
  • dorsal aorta morphogenesis Source: BHF-UCL
  • endocardial cushion morphogenesis Source: BHF-UCL
  • endothelial tube morphogenesis Source: BHF-UCL
  • in utero embryonic development Source: Ensembl
  • lymphangiogenesis Source: BHF-UCL
  • lymphatic endothelial cell differentiation Source: BHF-UCL
  • negative regulation of blood vessel endothelial cell migration Source: BHF-UCL
  • negative regulation of cell adhesion Source: HGNC
  • negative regulation of cell growth Source: BHF-UCL
  • negative regulation of cell migration Source: HGNC
  • negative regulation of cell proliferation Source: HGNC
  • negative regulation of DNA biosynthetic process Source: BHF-UCL
  • negative regulation of endothelial cell differentiation Source: Ensembl
  • negative regulation of endothelial cell migration Source: BHF-UCL
  • negative regulation of endothelial cell proliferation Source: Ensembl
  • negative regulation of focal adhesion assembly Source: HGNC
  • negative regulation of gene expression Source: BHF-UCL
  • positive regulation of angiogenesis Source: Ensembl
  • positive regulation of BMP signaling pathway Source: BHF-UCL
  • positive regulation of chondrocyte differentiation Source: BHF-UCL
  • positive regulation of endothelial cell differentiation Source: Ensembl
  • positive regulation of endothelial cell proliferation Source: Ensembl
  • positive regulation of pathway-restricted SMAD protein phosphorylation Source: BHF-UCL
  • positive regulation of transcription, DNA-templated Source: HGNC
  • positive regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
  • protein heterooligomerization Source: Ensembl
  • protein phosphorylation Source: HGNC
  • regulation of blood pressure Source: HGNC
  • regulation of blood vessel endothelial cell migration Source: DFLAT
  • regulation of DNA replication Source: DFLAT
  • regulation of endothelial cell proliferation Source: DFLAT
  • regulation of transcription, DNA-templated Source: HGNC
  • response to hypoxia Source: Ensembl
  • retina vasculature development in camera-type eye Source: BHF-UCL
  • signal transduction Source: HGNC
  • transforming growth factor beta receptor signaling pathway Source: HGNC
  • venous blood vessel development Source: BHF-UCL
  • wound healing, spreading of epidermal cells Source: HGNC
Complete GO annotation...

Keywords - Molecular functioni

Kinase, Receptor, Serine/threonine-protein kinase, Transferase

Keywords - Biological processi

Angiogenesis

Keywords - Ligandi

ATP-binding, Magnesium, Manganese, Metal-binding, Nucleotide-binding

Enzyme and pathway databases

BioCyciZFISH:HS06631-MONOMER.
BRENDAi2.7.10.2. 2681.
2.7.11.30. 2681.
SignaLinkiP37023.
SIGNORiP37023.

Names & Taxonomyi

Protein namesi
Recommended name:
Serine/threonine-protein kinase receptor R3 (EC:2.7.11.30)
Short name:
SKR3
Alternative name(s):
Activin receptor-like kinase 1
Short name:
ALK-1
TGF-B superfamily receptor type I
Short name:
TSR-I
Gene namesi
Name:ACVRL1
Synonyms:ACVRLK1, ALK1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

HGNCiHGNC:175. ACVRL1.

Subcellular locationi

  • Cell membrane 1 Publication; Single-pass type I membrane protein Sequence analysis

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini22 – 118ExtracellularSequence analysisAdd BLAST97
Transmembranei119 – 141HelicalSequence analysisAdd BLAST23
Topological domaini142 – 503CytoplasmicSequence analysisAdd BLAST362

GO - Cellular componenti

  • cell surface Source: MGI
  • dendrite Source: Ensembl
  • integral component of plasma membrane Source: UniProtKB
  • neuronal cell body Source: Ensembl
  • plasma membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Telangiectasia, hereditary hemorrhagic, 2 (HHT2)13 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:600376
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07030934C → Y in HHT2. 1 Publication1
Natural variantiVAR_07523141C → G in HHT2; loss of receptor activity in response to BMP9; predominantly retained in the endoplasmic reticulum. 1 Publication1
Natural variantiVAR_07523241C → Y in HHT2; loss of receptor activity in response to BMP9; predominantly retained in the endoplasmic reticulum. 1 Publication1
Natural variantiVAR_07523346C → G in HHT2; loss of receptor activity in response to BMP9; retained in the endoplasmic reticulum. 1 Publication1
Natural variantiVAR_07523447R → P in HHT2; loss of receptor activity in response to BMP9; retained in the endoplasmic reticulum. 1 Publication1
Natural variantiVAR_02678448 – 49GA → EP in HHT2. Corresponds to variant rs387906392dbSNPEnsembl.2
Natural variantiVAR_02678548G → R in HHT2. 1 Publication1
Natural variantiVAR_00620450W → C in HHT2; retained in the endoplasmic reticulum. 3 PublicationsCorresponds to variant rs121909285dbSNPEnsembl.1
Natural variantiVAR_07031150W → G in HHT2. 1 Publication1
Natural variantiVAR_00620551C → Y in HHT2. 1 Publication1
Natural variantiVAR_07031252T → A in HHT2. 1 Publication1
Natural variantiVAR_07031366H → P in HHT2. 1 Publication1
Natural variantiVAR_07523566H → Y in HHT2; loss of receptor activity in response to BMP9; retained in the endoplasmic reticulum. 1 Publication1
Natural variantiVAR_00620667R → Q in HHT2; retained in the endoplasmic reticulum. 2 Publications1
Natural variantiVAR_02678667R → W in HHT2. 1 Publication1
Natural variantiVAR_07031469C → R in HHT2. 1 Publication1
Natural variantiVAR_07523677C → F in HHT2; loss of receptor activity in response to BMP9; retained in the endoplasmic reticulum. 1 Publication1
Natural variantiVAR_00620777C → W in HHT2; retained in the endoplasmic reticulum. 2 Publications1
Natural variantiVAR_00620896N → D in HHT2. 1 Publication1
Natural variantiVAR_07031596N → S in HHT2. 1 Publication1
Natural variantiVAR_070317176D → Y in HHT2. 1 Publication1
Natural variantiVAR_026787179D → A in HHT2; mutant protein is capable of targeting the cell surface appropriately. 1 PublicationCorresponds to variant rs753792569dbSNPEnsembl.1
Natural variantiVAR_070318197T → I in HHT2. 1 Publication1
Natural variantiVAR_026788211G → D in HHT2; loss of receptor activity in response to BMP9; retained in the endoplasmic reticulum. 2 PublicationsCorresponds to variant rs28936687dbSNPEnsembl.1
Natural variantiVAR_075238211G → S in HHT2; loss of receptor activity in response to BMP9; retained in the endoplasmic reticulum. 1 Publication1
Natural variantiVAR_026789215E → K in HHT2. 1 PublicationCorresponds to variant rs754283265dbSNPEnsembl.1
Natural variantiVAR_070319217W → G in HHT2. 1 Publication1
Natural variantiVAR_070320219G → D in HHT2. 1 Publication1
Natural variantiVAR_026790223G → R in HHT2. 1 Publication1
Natural variantiVAR_070321226V → E in HHT2. 1 Publication1
Natural variantiVAR_026791229K → R in HHT2. 1 Publication1
Natural variantiVAR_006209232Missing in HHT2; mutant protein is capable of targeting the cell surface appropriately. 3 Publications1
Natural variantiVAR_070322233S → L in HHT2. 1 PublicationCorresponds to variant rs762773076dbSNPEnsembl.1
Natural variantiVAR_026792233Missing in HHT2. 1 Publication1
Natural variantiVAR_070323237Q → K in HHT2. 1 Publication1
Natural variantiVAR_075239245I → V in HHT2; no loss of receptor activity in response to BMP9; mutant protein is capable of targeting the cell surface appropriately; affects splicing by inducing the creation of a new donor splice site and the loss of the 3' end of exon 6. 1 Publication1
Natural variantiVAR_026793254Missing in HHT2; retained in the endoplasmic reticulum. 2 Publications1
Natural variantiVAR_070324260I → L in HHT2. 1 Publication1
Natural variantiVAR_070325265T → P in HHT2. 1 Publication1
Natural variantiVAR_070327280H → R in HHT2. 1 Publication1
Natural variantiVAR_026794285L → F in HHT2. 1 Publication1
Natural variantiVAR_070328289L → P in HHT2. 1 Publication1
Natural variantiVAR_070329294L → R in HHT2. 1 Publication1
Natural variantiVAR_026795306A → P in HHT2; loss of receptor activity in response to BMP9; retained in the endoplasmic reticulum. 2 Publications1
Natural variantiVAR_075240313L → V in HHT2; loss of receptor activity in response to BMP9; predominantly retained in the endoplasmic reticulum. 1 Publication1
Natural variantiVAR_026796314H → Y in HHT2; loss of receptor activity in response to BMP9; retained in the endoplasmic reticulum. 2 Publications1
Natural variantiVAR_070330328H → Q in HHT2. 1 Publication1
Natural variantiVAR_006210333S → I in HHT2; retained in the endoplasmic reticulum. 3 Publications1
Natural variantiVAR_070331335N → H in HHT2. 1 Publication1
Natural variantiVAR_026797337L → P in HHT2. 1 Publication1
Natural variantiVAR_070333344C → R in HHT2. 1 Publication1
Natural variantiVAR_026798344C → Y in HHT2; retained in the endoplasmic reticulum. 2 PublicationsCorresponds to variant rs28936688dbSNPEnsembl.1
Natural variantiVAR_070334347A → D in HHT2. 1 Publication1
Natural variantiVAR_026799347A → P in HHT2. 1 Publication1
Natural variantiVAR_026800374R → Q in HHT2; retained in the endoplasmic reticulum. 2 Publications1
Natural variantiVAR_006211374R → W in HHT2. 4 PublicationsCorresponds to variant rs28936401dbSNPEnsembl.1
Natural variantiVAR_006212376M → R in HHT2. 1 PublicationCorresponds to variant rs28936399dbSNPEnsembl.1
Natural variantiVAR_026801376M → V in HHT2. 1 Publication1
Natural variantiVAR_026802378P → L in HHT2; retained in the endoplasmic reticulum. 1 Publication1
Natural variantiVAR_070335378P → S in HHT2; loss of receptor activity in response to BMP9; retained in the endoplasmic reticulum. 2 Publications1
Natural variantiVAR_075241379E → D in HHT2; loss of receptor activity in response to BMP9; retained in the endoplasmic reticulum. 1 Publication1
Natural variantiVAR_026803379E → K in HHT2; loss of receptor activity in response to BMP9; retained in the endoplasmic reticulum. 3 Publications1
Natural variantiVAR_026804397D → G in HHT2. 1 Publication1
Natural variantiVAR_026805398I → N in HHT2. 1 PublicationCorresponds to variant rs28936400dbSNPEnsembl.1
Natural variantiVAR_026806399W → S in HHT2. 1 PublicationCorresponds to variant rs28936402dbSNPEnsembl.1
Natural variantiVAR_070337403L → P in HHT2. 1 Publication1
Natural variantiVAR_075242404V → G in HHT2; loss of receptor activity in response to BMP9; predominantly retained in the endoplasmic reticulum. 1 Publication1
Natural variantiVAR_026807407E → D in HHT2. 2 Publications1
Natural variantiVAR_026808411R → P in HHT2. 1 PublicationCorresponds to variant rs121909284dbSNPEnsembl.1
Natural variantiVAR_006213411R → Q in HHT2; retained in the endoplasmic reticulum. 3 PublicationsCorresponds to variant rs28936398dbSNPEnsembl.1
Natural variantiVAR_026809411R → W in HHT2; loss of receptor activity in response to BMP9; predominantly retained in the endoplasmic reticulum. 4 PublicationsCorresponds to variant rs121909287dbSNPEnsembl.1
Natural variantiVAR_070338416G → S in HHT2. 1 Publication1
Natural variantiVAR_070339424P → R in HHT2. 1 Publication1
Natural variantiVAR_006214424P → T in HHT2. 1 Publication1
Natural variantiVAR_026810425F → L in HHT2. 1 Publication1
Natural variantiVAR_026811425F → V in HHT2. 1 Publication1
Natural variantiVAR_026812425Missing in HHT2. 1 Publication1
Natural variantiVAR_070340426Y → C in HHT2. 1 Publication1
Natural variantiVAR_070341433P → R in HHT2. 1 Publication1
Natural variantiVAR_075244441V → M in HHT2; retained in the endoplasmic reticulum. 1 Publication1
Natural variantiVAR_075245443C → Y in HHT2; retained in the endoplasmic reticulum. 1 Publication1
Natural variantiVAR_070342449P → S in HHT2. 1 Publication1
Natural variantiVAR_026813479R → L in HHT2. 1 Publication1
Natural variantiVAR_070343479R → P in HHT2. 1 Publication1
Natural variantiVAR_026814482A → V in HHT2. 1 PublicationCorresponds to variant rs139142865dbSNPEnsembl.1
Natural variantiVAR_026815484R → W in HHT2. 2 PublicationsCorresponds to variant rs121909288dbSNPEnsembl.1
Natural variantiVAR_026816487K → T in HHT2; mutant protein is capable of targeting the cell surface appropriately. 1 Publication1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi74 – 76REL → DFQ: Affinity for BMP9 decreased by 200-fold. 1 Publication3

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi94.
MalaCardsiACVRL1.
MIMi600376. phenotype.
OpenTargetsiENSG00000139567.
Orphaneti774. Hereditary hemorrhagic telangiectasia.
275777. Heritable pulmonary arterial hypertension.
PharmGKBiPA24496.

Chemistry databases

ChEMBLiCHEMBL5311.
DrugBankiDB00171. Adenosine triphosphate.
GuidetoPHARMACOLOGYi1784.

Polymorphism and mutation databases

BioMutaiACVRL1.
DMDMi3915750.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 21Sequence analysisAdd BLAST21
ChainiPRO_000002442022 – 503Serine/threonine-protein kinase receptor R3Add BLAST482

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi34 ↔ 51Combined sources2 Publications
Disulfide bondi36 ↔ 41Combined sources2 Publications
Disulfide bondi46 ↔ 69Combined sources2 Publications
Disulfide bondi77 ↔ 89Combined sources2 Publications
Disulfide bondi90 ↔ 95Combined sources2 Publications
Glycosylationi98N-linked (GlcNAc...)Sequence analysis1
Modified residuei155PhosphoserineBy similarity1
Modified residuei160PhosphoserineBy similarity1
Modified residuei161PhosphoserineBy similarity1

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

PaxDbiP37023.
PeptideAtlasiP37023.
PRIDEiP37023.

PTM databases

iPTMnetiP37023.
PhosphoSitePlusiP37023.

Expressioni

Gene expression databases

BgeeiENSG00000139567.
CleanExiHS_ACVRL1.
ExpressionAtlasiP37023. baseline and differential.
GenevisibleiP37023. HS.

Organism-specific databases

HPAiHPA007041.

Interactioni

GO - Molecular functioni

  • activin binding Source: UniProtKB
  • protein kinase binding Source: BHF-UCL
  • SMAD binding Source: HGNC
  • transforming growth factor beta binding Source: UniProtKB

Protein-protein interaction databases

BioGridi106609. 18 interactors.
DIPiDIP-5938N.
IntActiP37023. 1 interactor.
STRINGi9606.ENSP00000373574.

Chemistry databases

BindingDBiP37023.

Structurei

Secondary structure

1503
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi26 – 28Combined sources3
Beta strandi32 – 35Combined sources4
Beta strandi42 – 56Combined sources15
Beta strandi59 – 61Combined sources3
Beta strandi64 – 68Combined sources5
Helixi74 – 78Combined sources5
Beta strandi83 – 90Combined sources8
Turni93 – 96Combined sources4
Helixi198 – 201Combined sources4
Beta strandi203 – 211Combined sources9
Beta strandi214 – 221Combined sources8
Beta strandi224 – 231Combined sources8
Helixi233 – 235Combined sources3
Helixi236 – 248Combined sources13
Beta strandi259 – 265Combined sources7
Beta strandi267 – 269Combined sources3
Beta strandi272 – 278Combined sources7
Helixi285 – 291Combined sources7
Helixi296 – 314Combined sources19
Beta strandi325 – 327Combined sources3
Beta strandi335 – 338Combined sources4
Beta strandi344 – 346Combined sources3
Beta strandi353 – 355Combined sources3
Beta strandi357 – 359Combined sources3
Helixi373 – 375Combined sources3
Helixi378 – 381Combined sources4
Helixi390 – 410Combined sources21
Turni424 – 428Combined sources5
Helixi435 – 442Combined sources8
Beta strandi455 – 459Combined sources5
Turni460 – 462Combined sources3
Helixi463 – 469Combined sources7
Helixi476 – 478Combined sources3
Helixi482 – 491Combined sources10

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2LCRNMR-A22-118[»]
3MY0X-ray2.65A/B/C/D/E/F/G/H/I/J/K/L/M/N/O/P/Q/R/S/T/U/V/W/X195-497[»]
4FAOX-ray3.36C/D/I/J/O/P/U/V/c/d/i/j22-118[»]
ProteinModelPortaliP37023.
SMRiP37023.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini172 – 201GSPROSITE-ProRule annotationAdd BLAST30
Domaini202 – 492Protein kinasePROSITE-ProRule annotationAdd BLAST291

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni73 – 76Mediates specificity for BMP ligand4

Sequence similaritiesi

Contains 1 GS domain.PROSITE-ProRule annotation
Contains 1 protein kinase domain.PROSITE-ProRule annotation

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2052. Eukaryota.
ENOG410XQT0. LUCA.
GeneTreeiENSGT00760000118876.
HOGENOMiHOG000230587.
HOVERGENiHBG054502.
InParanoidiP37023.
KOiK13594.
PhylomeDBiP37023.
TreeFamiTF314724.

Family and domain databases

InterProiIPR003605. GS_dom.
IPR011009. Kinase-like_dom.
IPR000719. Prot_kinase_dom.
IPR017441. Protein_kinase_ATP_BS.
IPR001245. Ser-Thr/Tyr_kinase_cat_dom.
IPR008271. Ser/Thr_kinase_AS.
IPR000333. TGFB_receptor.
[Graphical view]
PANTHERiPTHR23255. PTHR23255. 1 hit.
PfamiPF07714. Pkinase_Tyr. 1 hit.
PF08515. TGF_beta_GS. 1 hit.
[Graphical view]
PRINTSiPR00653. ACTIVIN2R.
SMARTiSM00467. GS. 1 hit.
[Graphical view]
SUPFAMiSSF56112. SSF56112. 1 hit.
PROSITEiPS51256. GS. 1 hit.
PS00107. PROTEIN_KINASE_ATP. 1 hit.
PS50011. PROTEIN_KINASE_DOM. 1 hit.
PS00108. PROTEIN_KINASE_ST. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

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

P37023-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MTLGSPRKGL LMLLMALVTQ GDPVKPSRGP LVTCTCESPH CKGPTCRGAW
60 70 80 90 100
CTVVLVREEG RHPQEHRGCG NLHRELCRGR PTEFVNHYCC DSHLCNHNVS
110 120 130 140 150
LVLEATQPPS EQPGTDGQLA LILGPVLALL ALVALGVLGL WHVRRRQEKQ
160 170 180 190 200
RGLHSELGES SLILKASEQG DSMLGDLLDS DCTTGSGSGL PFLVQRTVAR
210 220 230 240 250
QVALVECVGK GRYGEVWRGL WHGESVAVKI FSSRDEQSWF RETEIYNTVL
260 270 280 290 300
LRHDNILGFI ASDMTSRNSS TQLWLITHYH EHGSLYDFLQ RQTLEPHLAL
310 320 330 340 350
RLAVSAACGL AHLHVEIFGT QGKPAIAHRD FKSRNVLVKS NLQCCIADLG
360 370 380 390 400
LAVMHSQGSD YLDIGNNPRV GTKRYMAPEV LDEQIRTDCF ESYKWTDIWA
410 420 430 440 450
FGLVLWEIAR RTIVNGIVED YRPPFYDVVP NDPSFEDMKK VVCVDQQTPT
460 470 480 490 500
IPNRLAADPV LSGLAQMMRE CWYPNPSARL TALRIKKTLQ KISNSPEKPK

VIQ
Length:503
Mass (Da):56,124
Last modified:December 15, 1998 - v2
Checksum:i074522AA802325DD
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti172S → T in CAA80255 (PubMed:8397373).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07030830P → S Found in a patient with hereditary hemorrhagic talagiectasia; unknown pathological significance. 1 PublicationCorresponds to variant rs149664056dbSNPEnsembl.1
Natural variantiVAR_07030934C → Y in HHT2. 1 Publication1
Natural variantiVAR_07031038S → C.1 Publication1
Natural variantiVAR_07523141C → G in HHT2; loss of receptor activity in response to BMP9; predominantly retained in the endoplasmic reticulum. 1 Publication1
Natural variantiVAR_07523241C → Y in HHT2; loss of receptor activity in response to BMP9; predominantly retained in the endoplasmic reticulum. 1 Publication1
Natural variantiVAR_07523346C → G in HHT2; loss of receptor activity in response to BMP9; retained in the endoplasmic reticulum. 1 Publication1
Natural variantiVAR_07523447R → P in HHT2; loss of receptor activity in response to BMP9; retained in the endoplasmic reticulum. 1 Publication1
Natural variantiVAR_02678448 – 49GA → EP in HHT2. Corresponds to variant rs387906392dbSNPEnsembl.2
Natural variantiVAR_02678548G → R in HHT2. 1 Publication1
Natural variantiVAR_00620450W → C in HHT2; retained in the endoplasmic reticulum. 3 PublicationsCorresponds to variant rs121909285dbSNPEnsembl.1
Natural variantiVAR_07031150W → G in HHT2. 1 Publication1
Natural variantiVAR_00620551C → Y in HHT2. 1 Publication1
Natural variantiVAR_07031252T → A in HHT2. 1 Publication1
Natural variantiVAR_07031366H → P in HHT2. 1 Publication1
Natural variantiVAR_07523566H → Y in HHT2; loss of receptor activity in response to BMP9; retained in the endoplasmic reticulum. 1 Publication1
Natural variantiVAR_00620667R → Q in HHT2; retained in the endoplasmic reticulum. 2 Publications1
Natural variantiVAR_02678667R → W in HHT2. 1 Publication1
Natural variantiVAR_07031469C → R in HHT2. 1 Publication1
Natural variantiVAR_07523677C → F in HHT2; loss of receptor activity in response to BMP9; retained in the endoplasmic reticulum. 1 Publication1
Natural variantiVAR_00620777C → W in HHT2; retained in the endoplasmic reticulum. 2 Publications1
Natural variantiVAR_00620896N → D in HHT2. 1 Publication1
Natural variantiVAR_07031596N → S in HHT2. 1 Publication1
Natural variantiVAR_075237111E → D Rare polymorphism; no loss of receptor activity in response to BMP9; mutant protein is capable of targeting the cell surface appropriately. 1 Publication1
Natural variantiVAR_070316138L → P.1 Publication1
Natural variantiVAR_070317176D → Y in HHT2. 1 Publication1
Natural variantiVAR_026787179D → A in HHT2; mutant protein is capable of targeting the cell surface appropriately. 1 PublicationCorresponds to variant rs753792569dbSNPEnsembl.1
Natural variantiVAR_070318197T → I in HHT2. 1 Publication1
Natural variantiVAR_026788211G → D in HHT2; loss of receptor activity in response to BMP9; retained in the endoplasmic reticulum. 2 PublicationsCorresponds to variant rs28936687dbSNPEnsembl.1
Natural variantiVAR_075238211G → S in HHT2; loss of receptor activity in response to BMP9; retained in the endoplasmic reticulum. 1 Publication1
Natural variantiVAR_026789215E → K in HHT2. 1 PublicationCorresponds to variant rs754283265dbSNPEnsembl.1
Natural variantiVAR_070319217W → G in HHT2. 1 Publication1
Natural variantiVAR_070320219G → D in HHT2. 1 Publication1
Natural variantiVAR_026790223G → R in HHT2. 1 Publication1
Natural variantiVAR_070321226V → E in HHT2. 1 Publication1
Natural variantiVAR_026791229K → R in HHT2. 1 Publication1
Natural variantiVAR_006209232Missing in HHT2; mutant protein is capable of targeting the cell surface appropriately. 3 Publications1
Natural variantiVAR_070322233S → L in HHT2. 1 PublicationCorresponds to variant rs762773076dbSNPEnsembl.1
Natural variantiVAR_026792233Missing in HHT2. 1 Publication1
Natural variantiVAR_070323237Q → K in HHT2. 1 Publication1
Natural variantiVAR_011717245I → N.Corresponds to variant rs1804508dbSNPEnsembl.1
Natural variantiVAR_075239245I → V in HHT2; no loss of receptor activity in response to BMP9; mutant protein is capable of targeting the cell surface appropriately; affects splicing by inducing the creation of a new donor splice site and the loss of the 3' end of exon 6. 1 Publication1
Natural variantiVAR_026793254Missing in HHT2; retained in the endoplasmic reticulum. 2 Publications1
Natural variantiVAR_070324260I → L in HHT2. 1 Publication1
Natural variantiVAR_070325265T → P in HHT2. 1 Publication1
Natural variantiVAR_070326277T → K Found in a patient with hereditary hemorrhagic talagiectasia; unknown pathological significance. 1 Publication1
Natural variantiVAR_070327280H → R in HHT2. 1 Publication1
Natural variantiVAR_026794285L → F in HHT2. 1 Publication1
Natural variantiVAR_070328289L → P in HHT2. 1 Publication1
Natural variantiVAR_070329294L → R in HHT2. 1 Publication1
Natural variantiVAR_026795306A → P in HHT2; loss of receptor activity in response to BMP9; retained in the endoplasmic reticulum. 2 Publications1
Natural variantiVAR_075240313L → V in HHT2; loss of receptor activity in response to BMP9; predominantly retained in the endoplasmic reticulum. 1 Publication1
Natural variantiVAR_026796314H → Y in HHT2; loss of receptor activity in response to BMP9; retained in the endoplasmic reticulum. 2 Publications1
Natural variantiVAR_070330328H → Q in HHT2. 1 Publication1
Natural variantiVAR_006210333S → I in HHT2; retained in the endoplasmic reticulum. 3 Publications1
Natural variantiVAR_070331335N → H in HHT2. 1 Publication1
Natural variantiVAR_026797337L → P in HHT2. 1 Publication1
Natural variantiVAR_070332342L → P.1 Publication1
Natural variantiVAR_070333344C → R in HHT2. 1 Publication1
Natural variantiVAR_026798344C → Y in HHT2; retained in the endoplasmic reticulum. 2 PublicationsCorresponds to variant rs28936688dbSNPEnsembl.1
Natural variantiVAR_070334347A → D in HHT2. 1 Publication1
Natural variantiVAR_026799347A → P in HHT2. 1 Publication1
Natural variantiVAR_026800374R → Q in HHT2; retained in the endoplasmic reticulum. 2 Publications1
Natural variantiVAR_006211374R → W in HHT2. 4 PublicationsCorresponds to variant rs28936401dbSNPEnsembl.1
Natural variantiVAR_006212376M → R in HHT2. 1 PublicationCorresponds to variant rs28936399dbSNPEnsembl.1
Natural variantiVAR_026801376M → V in HHT2. 1 Publication1
Natural variantiVAR_026802378P → L in HHT2; retained in the endoplasmic reticulum. 1 Publication1
Natural variantiVAR_070335378P → S in HHT2; loss of receptor activity in response to BMP9; retained in the endoplasmic reticulum. 2 Publications1
Natural variantiVAR_075241379E → D in HHT2; loss of receptor activity in response to BMP9; retained in the endoplasmic reticulum. 1 Publication1
Natural variantiVAR_026803379E → K in HHT2; loss of receptor activity in response to BMP9; retained in the endoplasmic reticulum. 3 Publications1
Natural variantiVAR_026804397D → G in HHT2. 1 Publication1
Natural variantiVAR_026805398I → N in HHT2. 1 PublicationCorresponds to variant rs28936400dbSNPEnsembl.1
Natural variantiVAR_026806399W → S in HHT2. 1 PublicationCorresponds to variant rs28936402dbSNPEnsembl.1
Natural variantiVAR_070336400A → T Found in a patient with hereditary hemorrhagic talagiectasia; unknown pathological significance. 1 Publication1
Natural variantiVAR_070337403L → P in HHT2. 1 Publication1
Natural variantiVAR_075242404V → G in HHT2; loss of receptor activity in response to BMP9; predominantly retained in the endoplasmic reticulum. 1 Publication1
Natural variantiVAR_026807407E → D in HHT2. 2 Publications1
Natural variantiVAR_026808411R → P in HHT2. 1 PublicationCorresponds to variant rs121909284dbSNPEnsembl.1
Natural variantiVAR_006213411R → Q in HHT2; retained in the endoplasmic reticulum. 3 PublicationsCorresponds to variant rs28936398dbSNPEnsembl.1
Natural variantiVAR_026809411R → W in HHT2; loss of receptor activity in response to BMP9; predominantly retained in the endoplasmic reticulum. 4 PublicationsCorresponds to variant rs121909287dbSNPEnsembl.1
Natural variantiVAR_070338416G → S in HHT2. 1 Publication1
Natural variantiVAR_075243417I → F Rare polymorphism; no loss of receptor activity in response to BMP9; mutant protein is capable of targeting the cell surface appropriately. 1 PublicationCorresponds to variant rs141653630dbSNPEnsembl.1
Natural variantiVAR_070339424P → R in HHT2. 1 Publication1
Natural variantiVAR_006214424P → T in HHT2. 1 Publication1
Natural variantiVAR_026810425F → L in HHT2. 1 Publication1
Natural variantiVAR_026811425F → V in HHT2. 1 Publication1
Natural variantiVAR_026812425Missing in HHT2. 1 Publication1
Natural variantiVAR_070340426Y → C in HHT2. 1 Publication1
Natural variantiVAR_070341433P → R in HHT2. 1 Publication1
Natural variantiVAR_075244441V → M in HHT2; retained in the endoplasmic reticulum. 1 Publication1
Natural variantiVAR_075245443C → Y in HHT2; retained in the endoplasmic reticulum. 1 Publication1
Natural variantiVAR_070342449P → S in HHT2. 1 Publication1
Natural variantiVAR_026813479R → L in HHT2. 1 Publication1
Natural variantiVAR_070343479R → P in HHT2. 1 Publication1
Natural variantiVAR_026814482A → V in HHT2. 1 PublicationCorresponds to variant rs139142865dbSNPEnsembl.1
Natural variantiVAR_026815484R → W in HHT2. 2 Publications