Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

P37023

- ACVL1_HUMAN

UniProt

P37023 - ACVL1_HUMAN

Protein

Serine/threonine-protein kinase receptor R3

Gene

ACVRL1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 164 (01 Oct 2014)
      Sequence version 2 (15 Dec 1998)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    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.2 Publications

    Catalytic activityi

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

    Cofactori

    Magnesium or manganese.By similarity

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Binding sitei229 – 2291ATPPROSITE-ProRule annotation
    Active sitei330 – 3301Proton acceptorPROSITE-ProRule annotation

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi208 – 2169ATPPROSITE-ProRule annotation

    GO - Molecular functioni

    1. activin binding Source: UniProtKB
    2. activin receptor activity, type I Source: MGI
    3. ATP binding Source: HGNC
    4. metal ion binding Source: UniProtKB-KW
    5. protein binding Source: UniProtKB
    6. protein kinase binding Source: BHF-UCL
    7. protein serine/threonine kinase activity Source: HGNC
    8. receptor signaling protein serine/threonine kinase activity Source: Ensembl
    9. SMAD binding Source: HGNC
    10. transforming growth factor beta-activated receptor activity Source: MGI
    11. transforming growth factor beta binding Source: UniProtKB
    12. transforming growth factor beta receptor activity, type I Source: Ensembl

    GO - Biological processi

    1. activin receptor signaling pathway Source: GOC
    2. angiogenesis Source: HGNC
    3. artery development Source: BHF-UCL
    4. blood circulation Source: HGNC
    5. blood vessel endothelial cell proliferation involved in sprouting angiogenesis Source: DFLAT
    6. blood vessel maturation Source: DFLAT
    7. blood vessel remodeling Source: BHF-UCL
    8. BMP signaling pathway Source: BHF-UCL
    9. cellular response to BMP stimulus Source: BHF-UCL
    10. cellular response to transforming growth factor beta stimulus Source: BHF-UCL
    11. endothelial tube morphogenesis Source: BHF-UCL
    12. in utero embryonic development Source: Ensembl
    13. lymphangiogenesis Source: BHF-UCL
    14. lymphatic endothelial cell differentiation Source: BHF-UCL
    15. negative regulation of blood vessel endothelial cell migration Source: BHF-UCL
    16. negative regulation of cell adhesion Source: HGNC
    17. negative regulation of cell growth Source: BHF-UCL
    18. negative regulation of cell migration Source: HGNC
    19. negative regulation of cell proliferation Source: HGNC
    20. negative regulation of DNA biosynthetic process Source: BHF-UCL
    21. negative regulation of endothelial cell differentiation Source: Ensembl
    22. negative regulation of endothelial cell migration Source: BHF-UCL
    23. negative regulation of endothelial cell proliferation Source: Ensembl
    24. negative regulation of focal adhesion assembly Source: HGNC
    25. positive regulation of BMP signaling pathway Source: BHF-UCL
    26. positive regulation of chondrocyte differentiation Source: BHF-UCL
    27. positive regulation of endothelial cell differentiation Source: Ensembl
    28. positive regulation of endothelial cell proliferation Source: Ensembl
    29. positive regulation of pathway-restricted SMAD protein phosphorylation Source: BHF-UCL
    30. positive regulation of transcription, DNA-templated Source: HGNC
    31. positive regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
    32. protein heterooligomerization Source: Ensembl
    33. protein phosphorylation Source: HGNC
    34. regulation of blood pressure Source: HGNC
    35. regulation of blood vessel endothelial cell migration Source: DFLAT
    36. regulation of DNA replication Source: DFLAT
    37. regulation of endothelial cell proliferation Source: DFLAT
    38. regulation of transcription, DNA-templated Source: HGNC
    39. retina vasculature development in camera-type eye Source: BHF-UCL
    40. signal transduction Source: HGNC
    41. transforming growth factor beta receptor signaling pathway Source: HGNC
    42. venous blood vessel development Source: BHF-UCL
    43. wound healing, spreading of epidermal cells Source: HGNC

    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

    BRENDAi2.7.10.2. 2681.
    SignaLinkiP37023.

    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
    ProteomesiUP000005640: Chromosome 12

    Organism-specific databases

    HGNCiHGNC:175. ACVRL1.

    Subcellular locationi

    GO - Cellular componenti

    1. cell surface Source: MGI
    2. dendrite Source: Ensembl
    3. integral component of plasma membrane Source: UniProtKB
    4. neuronal cell body Source: Ensembl

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]: 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.12 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti34 – 341C → Y in HHT2. 1 Publication
    VAR_070309
    Natural varianti48 – 492GA → EP in HHT2.
    VAR_026784
    Natural varianti48 – 481G → R in HHT2. 1 Publication
    VAR_026785
    Natural varianti50 – 501W → C in HHT2; retained in the endoplasmic reticulum. 2 Publications
    VAR_006204
    Natural varianti50 – 501W → G in HHT2. 1 Publication
    VAR_070311
    Natural varianti51 – 511C → Y in HHT2. 1 Publication
    VAR_006205
    Natural varianti52 – 521T → A in HHT2. 1 Publication
    VAR_070312
    Natural varianti66 – 661H → P in HHT2. 1 Publication
    VAR_070313
    Natural varianti67 – 671R → Q in HHT2; retained in the endoplasmic reticulum. 1 Publication
    VAR_006206
    Natural varianti67 – 671R → W in HHT2. 1 Publication
    VAR_026786
    Natural varianti69 – 691C → R in HHT2. 1 Publication
    VAR_070314
    Natural varianti77 – 771C → W in HHT2; retained in the endoplasmic reticulum. 1 Publication
    VAR_006207
    Natural varianti96 – 961N → D in HHT2. 1 Publication
    VAR_006208
    Natural varianti96 – 961N → S in HHT2. 1 Publication
    VAR_070315
    Natural varianti176 – 1761D → Y in HHT2. 1 Publication
    VAR_070317
    Natural varianti179 – 1791D → A in HHT2; mutant protein is capable of targeting the cell surface appropriately. 1 Publication
    VAR_026787
    Natural varianti197 – 1971T → I in HHT2. 1 Publication
    VAR_070318
    Natural varianti211 – 2111G → D in HHT2; retained in the endoplasmic reticulum. 1 Publication
    Corresponds to variant rs28936687 [ dbSNP | Ensembl ].
    VAR_026788
    Natural varianti215 – 2151E → K in HHT2. 1 Publication
    VAR_026789
    Natural varianti217 – 2171W → G in HHT2. 1 Publication
    VAR_070319
    Natural varianti219 – 2191G → D in HHT2. 1 Publication
    VAR_070320
    Natural varianti223 – 2231G → R in HHT2. 1 Publication
    VAR_026790
    Natural varianti226 – 2261V → E in HHT2. 1 Publication
    VAR_070321
    Natural varianti229 – 2291K → R in HHT2. 1 Publication
    VAR_026791
    Natural varianti232 – 2321Missing in HHT2; mutant protein is capable of targeting the cell surface appropriately. 2 Publications
    VAR_006209
    Natural varianti233 – 2331S → L in HHT2. 1 Publication
    VAR_070322
    Natural varianti233 – 2331Missing in HHT2. 1 Publication
    VAR_026792
    Natural varianti237 – 2371Q → K in HHT2. 1 Publication
    VAR_070323
    Natural varianti254 – 2541Missing in HHT2; retained in the endoplasmic reticulum. 1 Publication
    VAR_026793
    Natural varianti260 – 2601I → L in HHT2. 1 Publication
    VAR_070324
    Natural varianti265 – 2651T → P in HHT2. 1 Publication
    VAR_070325
    Natural varianti280 – 2801H → R in HHT2. 1 Publication
    VAR_070327
    Natural varianti285 – 2851L → F in HHT2. 1 Publication
    VAR_026794
    Natural varianti289 – 2891L → P in HHT2. 1 Publication
    VAR_070328
    Natural varianti294 – 2941L → R in HHT2. 1 Publication
    VAR_070329
    Natural varianti306 – 3061A → P in HHT2. 1 Publication
    VAR_026795
    Natural varianti314 – 3141H → Y in HHT2. 1 Publication
    VAR_026796
    Natural varianti328 – 3281H → Q in HHT2. 1 Publication
    VAR_070330
    Natural varianti333 – 3331S → I in HHT2; retained in the endoplasmic reticulum. 2 Publications
    VAR_006210
    Natural varianti335 – 3351N → H in HHT2. 1 Publication
    VAR_070331
    Natural varianti337 – 3371L → P in HHT2. 1 Publication
    VAR_026797
    Natural varianti344 – 3441C → R in HHT2. 1 Publication
    VAR_070333
    Natural varianti344 – 3441C → Y in HHT2; retained in the endoplasmic reticulum. 2 Publications
    Corresponds to variant rs28936688 [ dbSNP | Ensembl ].
    VAR_026798
    Natural varianti347 – 3471A → D in HHT2. 1 Publication
    VAR_070334
    Natural varianti347 – 3471A → P in HHT2. 1 Publication
    VAR_026799
    Natural varianti374 – 3741R → Q in HHT2; retained in the endoplasmic reticulum. 2 Publications
    VAR_026800
    Natural varianti374 – 3741R → W in HHT2. 4 Publications
    Corresponds to variant rs28936401 [ dbSNP | Ensembl ].
    VAR_006211
    Natural varianti376 – 3761M → R in HHT2. 1 Publication
    Corresponds to variant rs28936399 [ dbSNP | Ensembl ].
    VAR_006212
    Natural varianti376 – 3761M → V in HHT2. 1 Publication
    VAR_026801
    Natural varianti378 – 3781P → L in HHT2; retained in the endoplasmic reticulum.
    VAR_026802
    Natural varianti378 – 3781P → S in HHT2. 1 Publication
    VAR_070335
    Natural varianti379 – 3791E → K in HHT2. 2 Publications
    VAR_026803
    Natural varianti397 – 3971D → G in HHT2. 1 Publication
    VAR_026804
    Natural varianti398 – 3981I → N in HHT2. 1 Publication
    Corresponds to variant rs28936400 [ dbSNP | Ensembl ].
    VAR_026805
    Natural varianti399 – 3991W → S in HHT2. 1 Publication
    Corresponds to variant rs28936402 [ dbSNP | Ensembl ].
    VAR_026806
    Natural varianti403 – 4031L → P in HHT2. 1 Publication
    VAR_070337
    Natural varianti407 – 4071E → D in HHT2. 2 Publications
    VAR_026807
    Natural varianti411 – 4111R → P in HHT2. 1 Publication
    VAR_026808
    Natural varianti411 – 4111R → Q in HHT2; retained in the endoplasmic reticulum. 3 Publications
    Corresponds to variant rs28936398 [ dbSNP | Ensembl ].
    VAR_006213
    Natural varianti411 – 4111R → W in HHT2. 3 Publications
    VAR_026809
    Natural varianti416 – 4161G → S in HHT2. 1 Publication
    VAR_070338
    Natural varianti424 – 4241P → R in HHT2. 1 Publication
    VAR_070339
    Natural varianti424 – 4241P → T in HHT2. 1 Publication
    VAR_006214
    Natural varianti425 – 4251F → L in HHT2. 1 Publication
    VAR_026810
    Natural varianti425 – 4251F → V in HHT2. 1 Publication
    VAR_026811
    Natural varianti425 – 4251Missing in HHT2. 1 Publication
    VAR_026812
    Natural varianti426 – 4261Y → C in HHT2. 1 Publication
    VAR_070340
    Natural varianti433 – 4331P → R in HHT2. 1 Publication
    VAR_070341
    Natural varianti449 – 4491P → S in HHT2. 1 Publication
    VAR_070342
    Natural varianti479 – 4791R → L in HHT2. 1 Publication
    VAR_026813
    Natural varianti479 – 4791R → P in HHT2. 1 Publication
    VAR_070343
    Natural varianti482 – 4821A → V in HHT2. 1 Publication
    Corresponds to variant rs139142865 [ dbSNP | Ensembl ].
    VAR_026814
    Natural varianti484 – 4841R → W in HHT2. 2 Publications
    VAR_026815
    Natural varianti487 – 4871K → T in HHT2; mutant protein is capable of targeting the cell surface appropriately. 1 Publication
    VAR_026816

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi74 – 763REL → DFQ: Affinity for BMP9 decreased by 200-fold. 1 Publication

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

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

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2121Sequence AnalysisAdd
    BLAST
    Chaini22 – 503482Serine/threonine-protein kinase receptor R3PRO_0000024420Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Disulfide bondi34 ↔ 51
    Disulfide bondi36 ↔ 41
    Disulfide bondi46 ↔ 69
    Disulfide bondi77 ↔ 89
    Disulfide bondi90 ↔ 95
    Glycosylationi98 – 981N-linked (GlcNAc...)Sequence Analysis
    Modified residuei155 – 1551PhosphoserineBy similarity

    Keywords - PTMi

    Disulfide bond, Glycoprotein, Phosphoprotein

    Proteomic databases

    PaxDbiP37023.
    PRIDEiP37023.

    PTM databases

    PhosphoSiteiP37023.

    Expressioni

    Gene expression databases

    ArrayExpressiP37023.
    BgeeiP37023.
    CleanExiHS_ACVRL1.
    GenevestigatoriP37023.

    Organism-specific databases

    HPAiHPA007041.

    Interactioni

    Protein-protein interaction databases

    BioGridi106609. 15 interactions.
    DIPiDIP-5938N.
    IntActiP37023. 1 interaction.
    STRINGi9606.ENSP00000267008.

    Structurei

    Secondary structure

    1
    503
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi26 – 283
    Beta strandi32 – 354
    Beta strandi42 – 5615
    Beta strandi59 – 613
    Beta strandi64 – 685
    Helixi74 – 785
    Beta strandi83 – 908
    Turni93 – 964
    Helixi198 – 2014
    Beta strandi203 – 2119
    Beta strandi214 – 2218
    Beta strandi224 – 2318
    Helixi233 – 2353
    Helixi236 – 24813
    Beta strandi259 – 2657
    Beta strandi272 – 2787
    Helixi285 – 2917
    Helixi296 – 31419
    Beta strandi325 – 3273
    Beta strandi335 – 3384
    Beta strandi344 – 3463
    Beta strandi353 – 3553
    Beta strandi357 – 3593
    Helixi373 – 3753
    Helixi378 – 3814
    Helixi390 – 41021
    Turni424 – 4285
    Helixi435 – 4428
    Beta strandi455 – 4595
    Turni460 – 4623
    Helixi463 – 4697
    Helixi476 – 4783
    Helixi482 – 49110

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    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. Positions 22-118, 172-493.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini22 – 11897ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini142 – 503362CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei119 – 14123HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini172 – 20130GSPROSITE-ProRule annotationAdd
    BLAST
    Domaini202 – 492291Protein kinasePROSITE-ProRule annotationAdd
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni73 – 764Mediates specificity for BMP ligand

    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

    eggNOGiCOG0515.
    HOGENOMiHOG000230587.
    HOVERGENiHBG054502.
    InParanoidiP37023.
    KOiK13594.
    PhylomeDBiP37023.
    TreeFamiTF314724.

    Family and domain databases

    InterProiIPR000472. Activin_rcpt.
    IPR011009. Kinase-like_dom.
    IPR000719. Prot_kinase_dom.
    IPR017441. Protein_kinase_ATP_BS.
    IPR008271. Ser/Thr_kinase_AS.
    IPR003605. TGF_beta_rcpt_GS.
    IPR000333. TGFB_receptor.
    [Graphical view]
    PANTHERiPTHR23255. PTHR23255. 1 hit.
    PfamiPF01064. Activin_recp. 1 hit.
    PF00069. Pkinase. 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

    MTLGSPRKGL LMLLMALVTQ GDPVKPSRGP LVTCTCESPH CKGPTCRGAW    50
    CTVVLVREEG RHPQEHRGCG NLHRELCRGR PTEFVNHYCC DSHLCNHNVS 100
    LVLEATQPPS EQPGTDGQLA LILGPVLALL ALVALGVLGL WHVRRRQEKQ 150
    RGLHSELGES SLILKASEQG DSMLGDLLDS DCTTGSGSGL PFLVQRTVAR 200
    QVALVECVGK GRYGEVWRGL WHGESVAVKI FSSRDEQSWF RETEIYNTVL 250
    LRHDNILGFI ASDMTSRNSS TQLWLITHYH EHGSLYDFLQ RQTLEPHLAL 300
    RLAVSAACGL AHLHVEIFGT QGKPAIAHRD FKSRNVLVKS NLQCCIADLG 350
    LAVMHSQGSD YLDIGNNPRV GTKRYMAPEV LDEQIRTDCF ESYKWTDIWA 400
    FGLVLWEIAR RTIVNGIVED YRPPFYDVVP NDPSFEDMKK VVCVDQQTPT 450
    IPNRLAADPV LSGLAQMMRE CWYPNPSARL TALRIKKTLQ KISNSPEKPK 500
    VIQ 503
    Length:503
    Mass (Da):56,124
    Last modified:December 15, 1998 - v2
    Checksum:i074522AA802325DD
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti172 – 1721S → T in CAA80255. (PubMed:8397373)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti30 – 301P → S Found in a patient with hereditary hemorrhagic talagiectasia; unknown pathological significance. 1 Publication
    VAR_070308
    Natural varianti34 – 341C → Y in HHT2. 1 Publication
    VAR_070309
    Natural varianti38 – 381S → C.1 Publication
    VAR_070310
    Natural varianti48 – 492GA → EP in HHT2.
    VAR_026784
    Natural varianti48 – 481G → R in HHT2. 1 Publication
    VAR_026785
    Natural varianti50 – 501W → C in HHT2; retained in the endoplasmic reticulum. 2 Publications
    VAR_006204
    Natural varianti50 – 501W → G in HHT2. 1 Publication
    VAR_070311
    Natural varianti51 – 511C → Y in HHT2. 1 Publication
    VAR_006205
    Natural varianti52 – 521T → A in HHT2. 1 Publication
    VAR_070312
    Natural varianti66 – 661H → P in HHT2. 1 Publication
    VAR_070313
    Natural varianti67 – 671R → Q in HHT2; retained in the endoplasmic reticulum. 1 Publication
    VAR_006206
    Natural varianti67 – 671R → W in HHT2. 1 Publication
    VAR_026786
    Natural varianti69 – 691C → R in HHT2. 1 Publication
    VAR_070314
    Natural varianti77 – 771C → W in HHT2; retained in the endoplasmic reticulum. 1 Publication
    VAR_006207
    Natural varianti96 – 961N → D in HHT2. 1 Publication
    VAR_006208
    Natural varianti96 – 961N → S in HHT2. 1 Publication
    VAR_070315
    Natural varianti138 – 1381L → P.1 Publication
    VAR_070316
    Natural varianti176 – 1761D → Y in HHT2. 1 Publication
    VAR_070317
    Natural varianti179 – 1791D → A in HHT2; mutant protein is capable of targeting the cell surface appropriately. 1 Publication
    VAR_026787
    Natural varianti197 – 1971T → I in HHT2. 1 Publication
    VAR_070318
    Natural varianti211 – 2111G → D in HHT2; retained in the endoplasmic reticulum. 1 Publication
    Corresponds to variant rs28936687 [ dbSNP | Ensembl ].
    VAR_026788
    Natural varianti215 – 2151E → K in HHT2. 1 Publication
    VAR_026789
    Natural varianti217 – 2171W → G in HHT2. 1 Publication
    VAR_070319
    Natural varianti219 – 2191G → D in HHT2. 1 Publication
    VAR_070320
    Natural varianti223 – 2231G → R in HHT2. 1 Publication
    VAR_026790
    Natural varianti226 – 2261V → E in HHT2. 1 Publication
    VAR_070321
    Natural varianti229 – 2291K → R in HHT2. 1 Publication
    VAR_026791
    Natural varianti232 – 2321Missing in HHT2; mutant protein is capable of targeting the cell surface appropriately. 2 Publications
    VAR_006209
    Natural varianti233 – 2331S → L in HHT2. 1 Publication
    VAR_070322
    Natural varianti233 – 2331Missing in HHT2. 1 Publication
    VAR_026792
    Natural varianti237 – 2371Q → K in HHT2. 1 Publication
    VAR_070323
    Natural varianti245 – 2451I → N.
    Corresponds to variant rs1804508 [ dbSNP | Ensembl ].
    VAR_011717
    Natural varianti254 – 2541Missing in HHT2; retained in the endoplasmic reticulum. 1 Publication
    VAR_026793
    Natural varianti260 – 2601I → L in HHT2. 1 Publication
    VAR_070324
    Natural varianti265 – 2651T → P in HHT2. 1 Publication
    VAR_070325
    Natural varianti277 – 2771T → K Found in a patient with hereditary hemorrhagic talagiectasia; unknown pathological significance. 1 Publication
    VAR_070326
    Natural varianti280 – 2801H → R in HHT2. 1 Publication
    VAR_070327
    Natural varianti285 – 2851L → F in HHT2. 1 Publication
    VAR_026794
    Natural varianti289 – 2891L → P in HHT2. 1 Publication
    VAR_070328
    Natural varianti294 – 2941L → R in HHT2. 1 Publication
    VAR_070329
    Natural varianti306 – 3061A → P in HHT2. 1 Publication
    VAR_026795
    Natural varianti314 – 3141H → Y in HHT2. 1 Publication
    VAR_026796
    Natural varianti328 – 3281H → Q in HHT2. 1 Publication
    VAR_070330
    Natural varianti333 – 3331S → I in HHT2; retained in the endoplasmic reticulum. 2 Publications
    VAR_006210
    Natural varianti335 – 3351N → H in HHT2. 1 Publication
    VAR_070331
    Natural varianti337 – 3371L → P in HHT2. 1 Publication
    VAR_026797
    Natural varianti342 – 3421L → P.1 Publication
    VAR_070332
    Natural varianti344 – 3441C → R in HHT2. 1 Publication
    VAR_070333
    Natural varianti344 – 3441C → Y in HHT2; retained in the endoplasmic reticulum. 2 Publications
    Corresponds to variant rs28936688 [ dbSNP | Ensembl ].
    VAR_026798
    Natural varianti347 – 3471A → D in HHT2. 1 Publication
    VAR_070334
    Natural varianti347 – 3471A → P in HHT2. 1 Publication
    VAR_026799
    Natural varianti374 – 3741R → Q in HHT2; retained in the endoplasmic reticulum. 2 Publications
    VAR_026800
    Natural varianti374 – 3741R → W in HHT2. 4 Publications
    Corresponds to variant rs28936401 [ dbSNP | Ensembl ].
    VAR_006211
    Natural varianti376 – 3761M → R in HHT2. 1 Publication
    Corresponds to variant rs28936399 [ dbSNP | Ensembl ].
    VAR_006212
    Natural varianti376 – 3761M → V in HHT2. 1 Publication
    VAR_026801
    Natural varianti378 – 3781P → L in HHT2; retained in the endoplasmic reticulum.
    VAR_026802
    Natural varianti378 – 3781P → S in HHT2. 1 Publication
    VAR_070335
    Natural varianti379 – 3791E → K in HHT2. 2 Publications
    VAR_026803
    Natural varianti397 – 3971D → G in HHT2. 1 Publication
    VAR_026804
    Natural varianti398 – 3981I → N in HHT2. 1 Publication
    Corresponds to variant rs28936400 [ dbSNP | Ensembl ].
    VAR_026805
    Natural varianti399 – 3991W → S in HHT2. 1 Publication
    Corresponds to variant rs28936402 [ dbSNP | Ensembl ].
    VAR_026806
    Natural varianti400 – 4001A → T Found in a patient with hereditary hemorrhagic talagiectasia; unknown pathological significance. 1 Publication
    VAR_070336
    Natural varianti403 – 4031L → P in HHT2. 1 Publication
    VAR_070337
    Natural varianti407 – 4071E → D in HHT2. 2 Publications
    VAR_026807
    Natural varianti411 – 4111R → P in HHT2. 1 Publication
    VAR_026808
    Natural varianti411 – 4111R → Q in HHT2; retained in the endoplasmic reticulum. 3 Publications
    Corresponds to variant rs28936398 [ dbSNP | Ensembl ].
    VAR_006213
    Natural varianti411 – 4111R → W in HHT2. 3 Publications
    VAR_026809
    Natural varianti416 – 4161G → S in HHT2. 1 Publication
    VAR_070338
    Natural varianti424 – 4241P → R in HHT2. 1 Publication
    VAR_070339
    Natural varianti424 – 4241P → T in HHT2. 1 Publication
    VAR_006214
    Natural varianti425 – 4251F → L in HHT2. 1 Publication
    VAR_026810
    Natural varianti425 – 4251F → V in HHT2. 1 Publication
    VAR_026811
    Natural varianti425 – 4251Missing in HHT2. 1 Publication
    VAR_026812
    Natural varianti426 – 4261Y → C in HHT2. 1 Publication
    VAR_070340
    Natural varianti433 – 4331P → R in HHT2. 1 Publication
    VAR_070341
    Natural varianti449 – 4491P → S in HHT2. 1 Publication
    VAR_070342
    Natural varianti479 – 4791R → L in HHT2. 1 Publication
    VAR_026813
    Natural varianti479 – 4791R → P in HHT2. 1 Publication
    VAR_070343
    Natural varianti482 – 4821A → V in HHT2. 1 Publication
    Corresponds to variant rs139142865 [ dbSNP | Ensembl ].
    VAR_026814
    Natural varianti484 – 4841R → W in HHT2. 2 Publications
    VAR_026815
    Natural varianti486 – 4861K → E Found in a patient with hereditary hemorrhagic talagiectasia; unknown pathological significance. 1 Publication
    VAR_070344
    Natural varianti487 – 4871K → T in HHT2; mutant protein is capable of targeting the cell surface appropriately. 1 Publication
    VAR_026816

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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.3. human.

    Polymorphism databases

    DMDMi3915750.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Web resourcesi

    Hereditary Hemorrhagic Telangiectasia and ENG

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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 .
    CCDSi CCDS31804.1.
    PIRi A49431.
    RefSeqi NP_000011.2. NM_000020.2.
    NP_001070869.1. NM_001077401.1.
    XP_005269292.1. XM_005269235.2.
    UniGenei Hs.591026.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    2LCR NMR - A 22-118 [» ]
    3MY0 X-ray 2.65 A/B/C/D/E/F/G/H/I/J/K/L/M/N/O/P/Q/R/S/T/U/V/W/X 195-497 [» ]
    4FAO X-ray 3.36 C/D/I/J/O/P/U/V/c/d/i/j 22-118 [» ]
    ProteinModelPortali P37023.
    SMRi P37023. Positions 22-118, 172-493.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 106609. 15 interactions.
    DIPi DIP-5938N.
    IntActi P37023. 1 interaction.
    STRINGi 9606.ENSP00000267008.

    Chemistry

    BindingDBi P37023.
    ChEMBLi CHEMBL5311.
    DrugBanki DB00171. Adenosine triphosphate.
    GuidetoPHARMACOLOGYi 1784.

    PTM databases

    PhosphoSitei P37023.

    Polymorphism databases

    DMDMi 3915750.

    Proteomic databases

    PaxDbi P37023.
    PRIDEi P37023.

    Protocols and materials databases

    DNASUi 94.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000388922 ; ENSP00000373574 ; ENSG00000139567 .
    GeneIDi 94.
    KEGGi hsa:94.
    UCSCi uc001rzj.3. human.

    Organism-specific databases

    CTDi 94.
    GeneCardsi GC12P052300.
    GeneReviewsi ACVRL1.
    HGNCi HGNC:175. ACVRL1.
    HPAi HPA007041.
    MIMi 600376. phenotype.
    601284. gene.
    neXtProti NX_P37023.
    Orphaneti 774. Hereditary hemorrhagic telangiectasia.
    275777. Heritable pulmonary arterial hypertension.
    PharmGKBi PA24496.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0515.
    HOGENOMi HOG000230587.
    HOVERGENi HBG054502.
    InParanoidi P37023.
    KOi K13594.
    PhylomeDBi P37023.
    TreeFami TF314724.

    Enzyme and pathway databases

    BRENDAi 2.7.10.2. 2681.
    SignaLinki P37023.

    Miscellaneous databases

    ChiTaRSi ACVRL1. human.
    GeneWikii ACVRL1.
    GenomeRNAii 94.
    NextBioi 355.
    PROi P37023.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P37023.
    Bgeei P37023.
    CleanExi HS_ACVRL1.
    Genevestigatori P37023.

    Family and domain databases

    InterProi IPR000472. Activin_rcpt.
    IPR011009. Kinase-like_dom.
    IPR000719. Prot_kinase_dom.
    IPR017441. Protein_kinase_ATP_BS.
    IPR008271. Ser/Thr_kinase_AS.
    IPR003605. TGF_beta_rcpt_GS.
    IPR000333. TGFB_receptor.
    [Graphical view ]
    PANTHERi PTHR23255. PTHR23255. 1 hit.
    Pfami PF01064. Activin_recp. 1 hit.
    PF00069. Pkinase. 1 hit.
    PF08515. TGF_beta_GS. 1 hit.
    [Graphical view ]
    PRINTSi PR00653. ACTIVIN2R.
    SMARTi SM00467. GS. 1 hit.
    [Graphical view ]
    SUPFAMi SSF56112. SSF56112. 1 hit.
    PROSITEi PS51256. GS. 1 hit.
    PS00107. PROTEIN_KINASE_ATP. 1 hit.
    PS50011. PROTEIN_KINASE_DOM. 1 hit.
    PS00108. PROTEIN_KINASE_ST. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Activin receptor-like kinases: a novel subclass of cell-surface receptors with predicted serine/threonine kinase activity."
      ten Dijke P., Ichijo H., Franzen P., Schulz P., Saras J., Toyoshima H., Heldin C.-H., Miyazono K.
      Oncogene 8:2879-2887(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Placenta.
    2. "Identification of human activin and TGF beta type I receptors that form heteromeric kinase complexes with type II receptors."
      Attisano L., Carcamo J., Ventura F., Weis F.M., Massague J., Wrana J.L.
      Cell 75:671-680(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    3. "The activin receptor-like kinase 1 gene: genomic structure and mutations in hereditary hemorrhagic telangiectasia type 2."
      Berg J.N., Gallione C.J., Stenzel T.T., Johnson D.W., Allen W.P., Schwartz C.E., Jackson C.E., Porteous M.E.M., Marchuk D.A.
      Am. J. Hum. Genet. 61:60-67(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS HHT2 CYS-50; GLN-67; ILE-333; TRP-374 AND THR-424.
    4. "The finished DNA sequence of human chromosome 12."
      Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R.
      , Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., Gibbs R.A.
      Nature 440:346-351(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Brain.
    7. "Structure of the Alk1 extracellular domain and characterization of its bone morphogenetic protein (BMP) binding properties."
      Mahlawat P., Ilangovan U., Biswas T., Sun L.Z., Hinck A.P.
      Biochemistry 51:6328-6341(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: STRUCTURE BY NMR OF 19-118, FUNCTION AS BMP9 RECEPTOR, DISULFIDE BONDS, MUTAGENESIS OF 74-ARG--LEU-76.
    8. "Specificity and structure of a high affinity activin receptor-like kinase 1 (ALK1) signaling complex."
      Townson S.A., Martinez-Hackert E., Greppi C., Lowden P., Sako D., Liu J., Ucran J.A., Liharska K., Underwood K.W., Seehra J., Kumar R., Grinberg A.V.
      J. Biol. Chem. 287:27313-27325(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: X-RAY CRYSTALLOGRAPHY (3.36 ANGSTROMS) OF 22-118 IN COMPLEX WITH BMP9 AND ACVR2B, FUNCTION AS BMP9 AND BMP10 RECEPTOR, DISULFIDE BONDS.
    9. Cited for: VARIANTS HHT2 SER-232 DEL; ARG-376 AND GLN-411.
    10. "Novel missense and frameshift mutations in the activin receptor-like kinase-1 gene in hereditary hemorrhagic telangiectasia."
      Klaus D.J., Gallione C.J., Anthony K., Yeh E.Y., Yu J., Lux A., Johnson D.W., Marchuk D.A.
      Hum. Mutat. 12:137-137(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS HHT2 TYR-51; TRP-77 AND ASP-96.
    11. "Analysis of ALK-1 and endoglin in newborns from families with hereditary hemorrhagic telangiectasia type 2."
      Abdalla S.A., Pece-Barbara N., Vera S., Tapia E., Paez E., Bernabeu C., Letarte M.
      Hum. Mol. Genet. 9:1227-1237(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS HHT2 GLY-48-49-ALA DELINS EP; CYS-50; SER-232 DEL; ILE-333; TYR-344 AND ASP-407.
    12. "Mutations in the ALK-1 gene and the phenotype of hereditary hemorrhagic telangiectasia in two large Danish families."
      Kjeldsen A.D., Brusgaard K., Poulsen L., Kruse T., Rasmussen K., Green A., Vase P.
      Am. J. Med. Genet. 98:298-302(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS HHT2 TRP-374 AND ASN-398.
    13. "Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia."
      Trembath R.C., Thomson J.R., Machado R.D., Morgan N.V., Atkinson C., Winship I., Simonneau G., Galie N., Loyd J.E., Humbert M., Nichols W.C., Berg J., Manes A., McGaughran J., Pauciulo M., Wheeler L., Morrell N.W.
      N. Engl. J. Med. 345:325-334(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS HHT2 ASP-254 DEL; TRP-411 AND TRP-484.
    14. "Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia."
      Harrison R.E., Flanagan J.A., Sankelo M., Abdalla S.A., Rowell J., Machado R.D., Elliott C.G., Robbins I.M., Olschewski H., McLaughlin V., Gruenig E., Kermeen F., Halme M., Raeisaenen-Sokolowski A., Laitinen T., Morrell N.W., Trembath R.C.
      J. Med. Genet. 40:865-871(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS HHT2 ALA-179; ASP-211; TYR-344; TRP-374; GLN-374; SER-399; GLN-411 AND THR-487, CHARACTERIZATION OF VARIANTS HHT2 CYS-50; GLN-67; TRP-77; ALA-179; ASP-211; SER-232 DEL; ASP-254 DEL; ILE-333; TYR-344; GLN-374; LEU-378; GLN-411 AND THR-487.
    15. Cited for: VARIANTS HHT2 ARG-48; LYS-215; ARG-223; ARG-229; SER-233 DEL; PHE-285; PRO-306; TYR-314; PRO-337; PRO-347; GLN-374; VAL-376; LYS-379; GLY-397; TRP-411; PRO-411; GLN-411; LEU-425; LEU-479; VAL-482 AND TRP-484.
    16. "Hepatic manifestation is associated with ALK1 in hereditary hemorrhagic telangiectasia: identification of five novel ALK1 and one novel ENG mutations."
      Kuehl H.K.A., Caselitz M., Hasenkamp S., Wagner S., El-Harith E.-H.A., Manns M.P., Stuhrmann M.
      Hum. Mutat. 25:320-320(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS HHT2 TRP-67; TRP-374; LYS-379; ASP-407; TRP-411; VAL-425 AND PHE-425 DEL.
    17. "Novel mutations in ENG and ACVRL1 identified in a series of 200 individuals undergoing clinical genetic testing for hereditary hemorrhagic telangiectasia (HHT): correlation of genotype with phenotype."
      Bossler A.D., Richards J., George C., Godmilow L., Ganguly A.
      Hum. Mutat. 27:667-675(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT SER-30, VARIANTS HHT2 TYR-34; ALA-52; ILE-197; ASP-219; LYS-237; LEU-260; PRO-289; ARG-344; CYS-426 AND ARG-433.
    18. "Novel mutations in the ENG and ACVRL1 genes causing hereditary hemorrhagic teleangiectasia."
      Argyriou L., Twelkemeyer S., Panchulidze I., Wehner L.E., Teske U., Engel W., Nayernia K.
      Int. J. Mol. Med. 17:655-659(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS HHT2 GLY-50; PRO-66; ARG-69; TYR-176; LEU-233; PRO-265; PRO-403 AND SER-416.
    19. "Update on molecular diagnosis of hereditary hemorrhagic telangiectasia."
      Richards-Yutz J., Grant K., Chao E.C., Walther S.E., Ganguly A.
      Hum. Genet. 128:61-77(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS CYS-38; PRO-138; LYS-277; PRO-342; THR-400 AND GLU-486, VARIANTS HHT2 SER-96; GLY-217; GLU-226; ARG-280; ARG-294; GLN-328; HIS-335; ASP-347; SER-378; ARG-424; SER-449 AND PRO-479.

    Entry informationi

    Entry nameiACVL1_HUMAN
    AccessioniPrimary (citable) accession number: P37023
    Secondary accession number(s): A6NGA8
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: June 1, 1994
    Last sequence update: December 15, 1998
    Last modified: October 1, 2014
    This is version 164 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 12
      Human chromosome 12: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. Human and mouse protein kinases
      Human and mouse protein kinases: classification and index
    7. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3