Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

UniProtKB - P37023 (ACVL1_HUMAN)

Protein

Serine/threonine-protein kinase receptor R3

Gene

ACVRL1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionKinase, Receptor, Serine/threonine-protein kinase, Transferase
Biological processAngiogenesis
LigandATP-binding, Magnesium, Manganese, Metal-binding, Nucleotide-binding

Enzyme and pathway databases

BRENDAi2.7.10.2 2681
2.7.11.30 2681
ReactomeiR-HSA-201451 Signaling by BMP
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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

EuPathDBiHostDB:ENSG00000139567.12
HGNCiHGNC:175 ACVRL1
MIMi601284 gene
neXtProtiNX_P37023

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 domaini22 – 118ExtracellularSequence analysisAdd BLAST97
Transmembranei119 – 141HelicalSequence analysisAdd BLAST23
Topological domaini142 – 503CytoplasmicSequence analysisAdd BLAST362

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 dbSNP:rs387906392Ensembl.2
Natural variantiVAR_02678548G → R in HHT2. 1 Publication1
Natural variantiVAR_00620450W → C in HHT2; retained in the endoplasmic reticulum. 3 PublicationsCorresponds to variant dbSNP:rs121909285EnsemblClinVar.1
Natural variantiVAR_07031150W → G in HHT2. 1 Publication1
Natural variantiVAR_00620551C → Y in HHT2. 1 PublicationCorresponds to variant dbSNP:rs863223409EnsemblClinVar.1
Natural variantiVAR_07031252T → A in HHT2. 1 PublicationCorresponds to variant dbSNP:rs1131691346Ensembl.1
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 PublicationsCorresponds to variant dbSNP:rs863223414EnsemblClinVar.1
Natural variantiVAR_02678667R → W in HHT2. 1 PublicationCorresponds to variant dbSNP:rs1085307405Ensembl.1
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 dbSNP:rs753792569EnsemblClinVar.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 dbSNP:rs28936687EnsemblClinVar.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 dbSNP:rs754283265Ensembl.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 dbSNP:rs762773076EnsemblClinVar.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 PublicationCorresponds to variant dbSNP:rs1085307410Ensembl.1
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 PublicationsCorresponds to variant dbSNP:rs863223413EnsemblClinVar.1
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 dbSNP:rs28936688EnsemblClinVar.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 PublicationsCorresponds to variant dbSNP:rs1060503248Ensembl.1
Natural variantiVAR_006211374R → W in HHT2. 4 PublicationsCorresponds to variant dbSNP:rs28936401EnsemblClinVar.1
Natural variantiVAR_006212376M → R in HHT2. 1 PublicationCorresponds to variant dbSNP:rs28936399EnsemblClinVar.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 PublicationsCorresponds to variant dbSNP:rs959973779Ensembl.1
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 PublicationsCorresponds to variant dbSNP:rs1131691686Ensembl.1
Natural variantiVAR_026804397D → G in HHT2. 1 Publication1
Natural variantiVAR_026805398I → N in HHT2. 1 PublicationCorresponds to variant dbSNP:rs121909286EnsemblClinVar.1
Natural variantiVAR_026806399W → S in HHT2. 1 PublicationCorresponds to variant dbSNP:rs121909289EnsemblClinVar.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 dbSNP:rs121909284EnsemblClinVar.1
Natural variantiVAR_006213411R → Q in HHT2; retained in the endoplasmic reticulum. 3 PublicationsCorresponds to variant dbSNP:rs121909284EnsemblClinVar.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 dbSNP:rs121909287EnsemblClinVar.1
Natural variantiVAR_070338416G → S in HHT2. 1 Publication1
Natural variantiVAR_070339424P → R in HHT2. 1 Publication1
Natural variantiVAR_006214424P → T in HHT2. 1 PublicationCorresponds to variant dbSNP:rs1085307419Ensembl.1
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 PublicationCorresponds to variant dbSNP:rs1085307426Ensembl.1
Natural variantiVAR_026814482A → V in HHT2. 1 PublicationCorresponds to variant dbSNP:rs139142865EnsemblClinVar.1
Natural variantiVAR_026815484R → W in HHT2. 2 PublicationsCorresponds to variant dbSNP:rs121909288EnsemblClinVar.1
Natural variantiVAR_026816487K → T in HHT2; mutant protein is capable of targeting the cell surface appropriately. 1 PublicationCorresponds to variant dbSNP:rs1085307428Ensembl.1

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
GeneReviewsiACVRL1
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...) asparagineSequence analysis1
Modified residuei155PhosphoserineBy similarity1
Modified residuei160PhosphoserineBy similarity1
Modified residuei161PhosphoserineBy similarity1

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

EPDiP37023
PaxDbiP37023
PeptideAtlasiP37023
PRIDEiP37023
ProteomicsDBi55254

PTM databases

iPTMnetiP37023
PhosphoSitePlusiP37023

Expressioni

Gene expression databases

BgeeiENSG00000139567 Expressed in 181 organ(s), highest expression level in tendon of biceps brachii
CleanExiHS_ACVRL1
ExpressionAtlasiP37023 baseline and differential
GenevisibleiP37023 HS

Organism-specific databases

HPAiHPA007041

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
LRG1P027503EBI-8043559,EBI-9083443

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi106609, 19 interactors
DIPiDIP-5938N
IntActiP37023, 5 interactors
MINTiP37023
STRINGi9606.ENSP00000373574

Chemistry databases

BindingDBiP37023

Structurei

Secondary structure

1503
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily.Curated

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2052 Eukaryota
ENOG410XQT0 LUCA
GeneTreeiENSGT00760000118876
HOGENOMiHOG000230587
HOVERGENiHBG054502
InParanoidiP37023
KOiK13594
PhylomeDBiP37023
TreeFamiTF314724

Family and domain databases

InterProiView protein in InterPro
IPR003605 GS_dom
IPR011009 Kinase-like_dom_sf
IPR000719 Prot_kinase_dom
IPR017441 Protein_kinase_ATP_BS
IPR001245 Ser-Thr/Tyr_kinase_cat_dom
IPR008271 Ser/Thr_kinase_AS
IPR000333 TGFB_receptor
PANTHERiPTHR23255 PTHR23255, 1 hit
PfamiView protein in Pfam
PF07714 Pkinase_Tyr, 1 hit
PF08515 TGF_beta_GS, 1 hit
PRINTSiPR00653 ACTIVIN2R
SMARTiView protein in SMART
SM00467 GS, 1 hit
SUPFAMiSSF56112 SSF56112, 1 hit
PROSITEiView protein in PROSITE
PS51256 GS, 1 hit
PS00107 PROTEIN_KINASE_ATP, 1 hit
PS50011 PROTEIN_KINASE_DOM, 1 hit
PS00108 PROTEIN_KINASE_ST, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

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

This entry has 1 described isoform and 5 potential isoforms that are computationally mapped.iShow all

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

Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
G3V1W8G3V1W8_HUMAN
Serine/threonine-protein kinase rec...
ACVRL1 hCG_37967
517Annotation score:
E7EN07E7EN07_HUMAN
Receptor protein serine/threonine k...
ACVRL1
329Annotation score:
F8W0N2F8W0N2_HUMAN
Receptor protein serine/threonine k...
ACVRL1
159Annotation score:
H3BTZ2H3BTZ2_HUMAN
Receptor protein serine/threonine k...
ACVRL1
163Annotation score:
D9IPD9D9IPD9_HUMAN
Activin A receptor type II-like kin...
ACVRL1
89Annotation score:

Experimental Info

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

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0795838K → N1 Publication1
Natural variantiVAR_07030830P → S Found in a patient with hereditary hemorrhagic talagiectasia; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs149664056EnsemblClinVar.1
Natural variantiVAR_07030934C → Y in HHT2. 1 Publication1
Natural variantiVAR_07031038S → C1 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 dbSNP:rs387906392Ensembl.2
Natural variantiVAR_02678548G → R in HHT2. 1 Publication1
Natural variantiVAR_00620450W → C in HHT2; retained in the endoplasmic reticulum. 3 PublicationsCorresponds to variant dbSNP:rs121909285EnsemblClinVar.1
Natural variantiVAR_07031150W → G in HHT2. 1 Publication1
Natural variantiVAR_00620551C → Y in HHT2. 1 PublicationCorresponds to variant dbSNP:rs863223409EnsemblClinVar.1
Natural variantiVAR_07031252T → A in HHT2. 1 PublicationCorresponds to variant dbSNP:rs1131691346Ensembl.1
Natural variantiVAR_07958459E → V Found in a patient with pulmonary arterial hypertension; unknown pathological significance. 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 PublicationsCorresponds to variant dbSNP:rs863223414EnsemblClinVar.1
Natural variantiVAR_02678667R → W in HHT2. 1 PublicationCorresponds to variant dbSNP:rs1085307405Ensembl.1
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 → P1 Publication1
Natural variantiVAR_079585159E → V Found in a patient with pulmonary arterial hypertension; unknown pathological significance. 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 dbSNP:rs753792569EnsemblClinVar.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 dbSNP:rs28936687EnsemblClinVar.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 dbSNP:rs754283265Ensembl.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_079586225S → C Found in a patient with pulmonary arterial hypertension; unknown pathological significance. 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 dbSNP:rs762773076EnsemblClinVar.1
Natural variantiVAR_026792233Missing in HHT2. 1 Publication1
Natural variantiVAR_070323237Q → K in HHT2. 1 Publication1
Natural variantiVAR_011717245I → N. Corresponds to variant dbSNP:rs1804508Ensembl.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 PublicationCorresponds to variant dbSNP:rs1085307410Ensembl.1
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 PublicationsCorresponds to variant dbSNP:rs863223413EnsemblClinVar.1
Natural variantiVAR_070331335N → H in HHT2. 1 Publication1
Natural variantiVAR_026797337L → P in HHT2. 1 Publication1
Natural variantiVAR_070332342L → P1 Publication1
Natural variantiVAR_070333344C → R in HHT2. 1 Publication1
Natural variantiVAR_026798344C → Y in HHT2; retained in the endoplasmic reticulum. 2 PublicationsCorresponds to variant dbSNP:rs28936688EnsemblClinVar.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 PublicationsCorresponds to variant dbSNP:rs1060503248Ensembl.1
Natural variantiVAR_006211374R → W in HHT2. 4 PublicationsCorresponds to variant dbSNP:rs28936401EnsemblClinVar.1
Natural variantiVAR_006212376M → R in HHT2. 1 PublicationCorresponds to variant dbSNP:rs28936399EnsemblClinVar.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 PublicationsCorresponds to variant dbSNP:rs959973779Ensembl.1
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 PublicationsCorresponds to variant dbSNP:rs1131691686Ensembl.1
Natural variantiVAR_079587396T → A Found in patients with pulmonary arterial hypertension; unknown pathological significance. 1 Publication1
Natural variantiVAR_026804397D → G in HHT2. 1 Publication1
Natural variantiVAR_026805398I → N in HHT2. 1 PublicationCorresponds to variant dbSNP:rs121909286EnsemblClinVar.1
Natural variantiVAR_026806399W → S in HHT2. 1 PublicationCorresponds to variant dbSNP:rs121909289EnsemblClinVar.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 dbSNP:rs121909284EnsemblClinVar.1
Natural variantiVAR_006213411R → Q in HHT2; retained in the endoplasmic reticulum. 3 PublicationsCorresponds to variant dbSNP:rs121909284EnsemblClinVar.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 dbSNP:rs121909287EnsemblClinVar.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 dbSNP:rs141653630Ensembl.1
Natural variantiVAR_070339424P → R in HHT2. 1 Publication1
Natural variantiVAR_006214424P → T in HHT2. 1 PublicationCorresponds to variant dbSNP:rs1085307419Ensembl.1
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 PublicationCorresponds to variant dbSNP:rs1085307426Ensembl.1
Natural variantiVAR_026814482A → V in HHT2. 1 PublicationCorresponds to variant dbSNP:rs139142865EnsemblClinVar.1
Natural variantiVAR_026815484R → W in HHT2. 2 PublicationsCorresponds to variant dbSNP:rs121909288EnsemblClinVar.1
Natural variantiVAR_070344486K → E Found in a patient with hereditary hemorrhagic talagiectasia; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs113700354Ensembl.1
Natural variantiVAR_026816487K → T in HHT2; mutant protein is capable of targeting the cell surface appropriately. 1 PublicationCorresponds to variant dbSNP:rs1085307428Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Z22533 mRNA Translation: CAA80255.1
L17075 mRNA Translation: AAA16160.1
U77713
, U77707, U77708, U77709, U77710, U77711, U77712 Genomic DNA Translation: AAB61900.1
AC025259 Genomic DNA No translation available.
CH471111 Genomic DNA Translation: EAW58213.1
BC042637 mRNA Translation: AAH42637.1
CCDSiCCDS31804.1
PIRiA49431
RefSeqiNP_000011.2, NM_000020.2
NP_001070869.1, NM_001077401.1
XP_005269292.1, XM_005269235.2
UniGeneiHs.591026

Genome annotation databases

EnsembliENST00000388922; ENSP00000373574; ENSG00000139567
GeneIDi94
KEGGihsa:94
UCSCiuc001rzj.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Web resourcesi

Hereditary Hemorrhagic Telangiectasia and ENG

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Z22533 mRNA Translation: CAA80255.1
L17075 mRNA Translation: AAA16160.1
U77713