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Q04771

- ACVR1_HUMAN

UniProt

Q04771 - ACVR1_HUMAN

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Protein
Activin receptor type-1
Gene
ACVR1, ACVRLK2
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

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. Receptor for activin. May be involved for left-right pattern formation during embryogenesis By similarity.

Catalytic activityi

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

Cofactori

Magnesium or manganese By similarity.

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Binding sitei235 – 2351ATP By similarity
Active sitei336 – 3361Proton acceptor By similarity

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi214 – 2229ATP By similarity

GO - Molecular functioni

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

GO - Biological processi

  1. BMP signaling pathway Source: BHF-UCL
  2. G1/S transition of mitotic cell cycle Source: HGNC
  3. activin receptor signaling pathway Source: BHF-UCL
  4. acute inflammatory response Source: Ensembl
  5. atrial septum primum morphogenesis Source: BHF-UCL
  6. cardiac muscle cell fate commitment Source: BHF-UCL
  7. cellular response to glucocorticoid stimulus Source: Ensembl
  8. determination of left/right symmetry Source: Ensembl
  9. embryonic heart tube morphogenesis Source: BHF-UCL
  10. endocardial cushion cell fate commitment Source: BHF-UCL
  11. gastrulation with mouth forming second Source: Ensembl
  12. germ cell development Source: Ensembl
  13. in utero embryonic development Source: Ensembl
  14. mesoderm formation Source: Ensembl
  15. mitral valve morphogenesis Source: BHF-UCL
  16. negative regulation of activin receptor signaling pathway Source: HGNC
  17. negative regulation of extrinsic apoptotic signaling pathway Source: BHF-UCL
  18. negative regulation of signal transduction Source: HGNC
  19. neural crest cell migration Source: Ensembl
  20. pathway-restricted SMAD protein phosphorylation Source: BHF-UCL
  21. patterning of blood vessels Source: Ensembl
  22. peptidyl-threonine phosphorylation Source: BHF-UCL
  23. pharyngeal system development Source: Ensembl
  24. positive regulation of bone mineralization Source: BHF-UCL
  25. positive regulation of determination of dorsal identity Source: BHF-UCL
  26. positive regulation of osteoblast differentiation Source: BHF-UCL
  27. positive regulation of pathway-restricted SMAD protein phosphorylation Source: BHF-UCL
  28. positive regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
  29. positive regulation of transcription, DNA-templated Source: UniProtKB
  30. protein phosphorylation Source: BHF-UCL
  31. regulation of ossification Source: UniProtKB
  32. regulation of skeletal muscle tissue development Source: Ensembl
  33. smooth muscle cell differentiation Source: Ensembl
  34. transforming growth factor beta receptor signaling pathway Source: UniProtKB
  35. urogenital system development Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

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

Keywords - Ligandi

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

Enzyme and pathway databases

BRENDAi2.7.10.2. 2681.
SignaLinkiQ04771.

Names & Taxonomyi

Protein namesi
Recommended name:
Activin receptor type-1 (EC:2.7.11.30)
Alternative name(s):
Activin receptor type I
Short name:
ACTR-I
Activin receptor-like kinase 2
Short name:
ALK-2
Serine/threonine-protein kinase receptor R1
Short name:
SKR1
TGF-B superfamily receptor type I
Short name:
TSR-I
Gene namesi
Name:ACVR1
Synonyms:ACVRLK2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 2

Organism-specific databases

HGNCiHGNC:171. ACVR1.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini21 – 123103Extracellular Reviewed prediction
Add
BLAST
Transmembranei124 – 14623Helical; Reviewed prediction
Add
BLAST
Topological domaini147 – 509363Cytoplasmic Reviewed prediction
Add
BLAST

GO - Cellular componenti

  1. activin receptor complex Source: UniProtKB
  2. apical part of cell Source: Ensembl
  3. integral component of plasma membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Fibrodysplasia ossificans progressiva (FOP) [MIM:135100]: A rare autosomal dominant connective tissue disorder resulting in skeletal malformations and progressive extraskeletal ossification. Heterotopic ossification begins in childhood and can be induced by trauma or may occur without warning. Bone formation is episodic and progressive, leading to a debilitating ankylosis of all major joints of the axial and appendicular skeleton, rendering movement impossible.
Note: The disease is caused by mutations affecting the gene represented in this entry.3 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti197 – 1982PF → L in FOP; variant phenotype.
VAR_058418
Natural varianti202 – 2021R → I in FOP; with some atypical features. 1 Publication
VAR_058419
Natural varianti206 – 2061R → H in FOP. 2 Publications
VAR_028444
Natural varianti207 – 2071Q → E in FOP; with some atypical features. 1 Publication
VAR_058420
Natural varianti328 – 3281G → E in FOP; variant phenotype. 2 Publications
VAR_058421
Natural varianti328 – 3281G → R in FOP; variant phenotype. 1 Publication
VAR_058422
Natural varianti328 – 3281G → W in FOP; variant phenotype. 1 Publication
VAR_058423
Natural varianti356 – 3561G → D in FOP; variant phenotype. 1 Publication
VAR_058424
Natural varianti375 – 3751R → P in FOP; variant phenotype. 1 Publication
VAR_058425

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi135100. phenotype.
Orphaneti337. Fibrodysplasia ossificans progressiva.
PharmGKBiPA24492.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2020 By similarity
Add
BLAST
Chaini21 – 509489Activin receptor type-1
PRO_0000024394Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi102 – 1021N-linked (GlcNAc...) Reviewed prediction
Modified residuei501 – 5011Phosphoserine1 Publication

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

MaxQBiQ04771.
PaxDbiQ04771.
PRIDEiQ04771.

PTM databases

PhosphoSiteiQ04771.

Expressioni

Tissue specificityi

Expressed in normal parenchymal cells, endothelial cells, fibroblasts and tumor-derived epithelial cells.

Gene expression databases

ArrayExpressiQ04771.
BgeeiQ04771.
CleanExiHS_ACVR1.
GenevestigatoriQ04771.

Organism-specific databases

HPAiHPA007505.
HPA046514.

Interactioni

Subunit structurei

Interacts with FKBP1A. Interacts with FCHO1.1 Publication

Protein-protein interaction databases

BioGridi106605. 59 interactions.
DIPiDIP-212N.
IntActiQ04771. 1 interaction.
MINTiMINT-1340145.
STRINGi9606.ENSP00000263640.

Structurei

Secondary structure

Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi180 – 1845
Beta strandi192 – 1965
Helixi205 – 2073
Beta strandi209 – 2168
Beta strandi218 – 22710
Beta strandi230 – 2378
Helixi239 – 2413
Helixi242 – 25413
Beta strandi265 – 2739
Beta strandi276 – 2838
Helixi291 – 2955
Helixi302 – 32019
Beta strandi325 – 3273
Beta strandi331 – 3333
Helixi339 – 3413
Beta strandi342 – 3443
Beta strandi350 – 3523
Beta strandi359 – 3624
Turni363 – 3664
Beta strandi367 – 3693
Helixi379 – 3813
Helixi384 – 3874
Helixi396 – 41520
Turni430 – 4345
Helixi441 – 4488
Helixi459 – 4635
Helixi465 – 47713
Helixi482 – 4843
Helixi488 – 49811

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
3H9RX-ray2.35A172-499[»]
3MTFX-ray2.15A/B201-499[»]
3OOMX-ray2.00A201-499[»]
3Q4UX-ray1.82A/B/C/D201-499[»]
4BGGX-ray2.56A/B/C/D201-499[»]
4C02X-ray2.17A172-499[»]
4DYMX-ray2.42A201-499[»]
ProteinModelPortaliQ04771.
SMRiQ04771. Positions 143-499.

Miscellaneous databases

EvolutionaryTraceiQ04771.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini178 – 20730GS
Add
BLAST
Domaini208 – 502295Protein kinase
Add
BLAST

Sequence similaritiesi

Contains 1 GS domain.

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG0515.
HOGENOMiHOG000230587.
HOVERGENiHBG054502.
InParanoidiQ04771.
KOiK04675.
OMAiVCEGMSC.
OrthoDBiEOG7Q8CN3.
PhylomeDBiQ04771.
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.

Q04771-1 [UniParc]FASTAAdd to Basket

« Hide

MVDGVMILPV LIMIALPSPS MEDEKPKVNP KLYMCVCEGL SCGNEDHCEG    50
QQCFSSLSIN DGFHVYQKGC FQVYEQGKMT CKTPPSPGQA VECCQGDWCN 100
RNITAQLPTK GKSFPGTQNF HLEVGLIILS VVFAVCLLAC LLGVALRKFK 150
RRNQERLNPR DVEYGTIEGL ITTNVGDSTL ADLLDHSCTS GSGSGLPFLV 200
QRTVARQITL LECVGKGRYG EVWRGSWQGE NVAVKIFSSR DEKSWFRETE 250
LYNTVMLRHE NILGFIASDM TSRHSSTQLW LITHYHEMGS LYDYLQLTTL 300
DTVSCLRIVL SIASGLAHLH IEIFGTQGKP AIAHRDLKSK NILVKKNGQC 350
CIADLGLAVM HSQSTNQLDV GNNPRVGTKR YMAPEVLDET IQVDCFDSYK 400
RVDIWAFGLV LWEVARRMVS NGIVEDYKPP FYDVVPNDPS FEDMRKVVCV 450
DQQRPNIPNR WFSDPTLTSL AKLMKECWYQ NPSARLTALR IKKTLTKIDN 500
SLDKLKTDC 509
Length:509
Mass (Da):57,153
Last modified:February 1, 1994 - v1
Checksum:iE2B0F051D19DD052
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti15 – 151A → G.1 Publication
Corresponds to variant rs13406336 [ dbSNP | Ensembl ].
VAR_041392
Natural varianti41 – 411S → F.1 Publication
Corresponds to variant rs55957214 [ dbSNP | Ensembl ].
VAR_041393
Natural varianti47 – 471H → Q.1 Publication
Corresponds to variant rs34056189 [ dbSNP | Ensembl ].
VAR_041394
Natural varianti115 – 1151P → S in a melanoma sample; somatic mutation. 1 Publication
VAR_041395
Natural varianti197 – 1982PF → L in FOP; variant phenotype.
VAR_058418
Natural varianti202 – 2021R → I in FOP; with some atypical features. 1 Publication
VAR_058419
Natural varianti206 – 2061R → H in FOP. 2 Publications
VAR_028444
Natural varianti207 – 2071Q → E in FOP; with some atypical features. 1 Publication
VAR_058420
Natural varianti328 – 3281G → E in FOP; variant phenotype. 2 Publications
VAR_058421
Natural varianti328 – 3281G → R in FOP; variant phenotype. 1 Publication
VAR_058422
Natural varianti328 – 3281G → W in FOP; variant phenotype. 1 Publication
VAR_058423
Natural varianti356 – 3561G → D in FOP; variant phenotype. 1 Publication
VAR_058424
Natural varianti375 – 3751R → P in FOP; variant phenotype. 1 Publication
VAR_058425

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
L02911 mRNA. Translation: AAA36614.1.
Z22534 mRNA. Translation: CAA80256.1.
BC033867 mRNA. Translation: AAH33867.1.
CCDSiCCDS2206.1.
PIRiA45992.
RefSeqiNP_001096.1. NM_001105.4.
NP_001104537.1. NM_001111067.2.
XP_005246996.1. XM_005246939.1.
XP_005246997.1. XM_005246940.1.
XP_006712888.1. XM_006712825.1.
UniGeneiHs.470316.

Genome annotation databases

EnsembliENST00000263640; ENSP00000263640; ENSG00000115170.
ENST00000409283; ENSP00000387273; ENSG00000115170.
ENST00000410057; ENSP00000387127; ENSG00000115170.
ENST00000434821; ENSP00000405004; ENSG00000115170.
GeneIDi90.
KEGGihsa:90.
UCSCiuc002tzm.3. human.

Polymorphism databases

DMDMi462447.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
L02911 mRNA. Translation: AAA36614.1 .
Z22534 mRNA. Translation: CAA80256.1 .
BC033867 mRNA. Translation: AAH33867.1 .
CCDSi CCDS2206.1.
PIRi A45992.
RefSeqi NP_001096.1. NM_001105.4.
NP_001104537.1. NM_001111067.2.
XP_005246996.1. XM_005246939.1.
XP_005246997.1. XM_005246940.1.
XP_006712888.1. XM_006712825.1.
UniGenei Hs.470316.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
3H9R X-ray 2.35 A 172-499 [» ]
3MTF X-ray 2.15 A/B 201-499 [» ]
3OOM X-ray 2.00 A 201-499 [» ]
3Q4U X-ray 1.82 A/B/C/D 201-499 [» ]
4BGG X-ray 2.56 A/B/C/D 201-499 [» ]
4C02 X-ray 2.17 A 172-499 [» ]
4DYM X-ray 2.42 A 201-499 [» ]
ProteinModelPortali Q04771.
SMRi Q04771. Positions 143-499.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 106605. 59 interactions.
DIPi DIP-212N.
IntActi Q04771. 1 interaction.
MINTi MINT-1340145.
STRINGi 9606.ENSP00000263640.

Chemistry

BindingDBi Q04771.
ChEMBLi CHEMBL5903.
DrugBanki DB00171. Adenosine triphosphate.
GuidetoPHARMACOLOGYi 1785.

PTM databases

PhosphoSitei Q04771.

Polymorphism databases

DMDMi 462447.

Proteomic databases

MaxQBi Q04771.
PaxDbi Q04771.
PRIDEi Q04771.

Protocols and materials databases

DNASUi 90.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000263640 ; ENSP00000263640 ; ENSG00000115170 .
ENST00000409283 ; ENSP00000387273 ; ENSG00000115170 .
ENST00000410057 ; ENSP00000387127 ; ENSG00000115170 .
ENST00000434821 ; ENSP00000405004 ; ENSG00000115170 .
GeneIDi 90.
KEGGi hsa:90.
UCSCi uc002tzm.3. human.

Organism-specific databases

CTDi 90.
GeneCardsi GC02M158594.
HGNCi HGNC:171. ACVR1.
HPAi HPA007505.
HPA046514.
MIMi 102576. gene.
135100. phenotype.
neXtProti NX_Q04771.
Orphaneti 337. Fibrodysplasia ossificans progressiva.
PharmGKBi PA24492.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0515.
HOGENOMi HOG000230587.
HOVERGENi HBG054502.
InParanoidi Q04771.
KOi K04675.
OMAi VCEGMSC.
OrthoDBi EOG7Q8CN3.
PhylomeDBi Q04771.
TreeFami TF314724.

Enzyme and pathway databases

BRENDAi 2.7.10.2. 2681.
SignaLinki Q04771.

Miscellaneous databases

EvolutionaryTracei Q04771.
GeneWikii ACVR1.
GenomeRNAii 90.
NextBioi 335.
PROi Q04771.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q04771.
Bgeei Q04771.
CleanExi HS_ACVR1.
Genevestigatori Q04771.

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

« Hide 'large scale' publications
  1. "A widely expressed transmembrane serine/threonine kinase that does not bind activin, inhibin, transforming growth factor beta, or bone morphogenic factor."
    Matsuzaki K., McKeehan W.L.
    J. Biol. Chem. 268:12719-12723(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  2. "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.
  3. "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: Lung.
  4. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-501, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  5. "Distinct and separable activities of the endocytic clathrin-coat components Fcho1/2 and AP-2 in developmental patterning."
    Umasankar P.K., Sanker S., Thieman J.R., Chakraborty S., Wendland B., Tsang M., Traub L.M.
    Nat. Cell Biol. 14:488-501(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH FCHO1.
  6. "Crystal structure of the kinase domain of type I activin receptor (ACVR1) in complex with FKBP12 and dorsomorphin."
    Structural genomics consortium (SGC)
    Submitted (JUN-2009) to the PDB data bank
    Cited for: X-RAY CRYSTALLOGRAPHY (2.35 ANGSTROMS) OF 172-499 IN COMPLEX WITH FKBP1A.
  7. "A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva."
    Shore E.M., Xu M., Feldman G.J., Fenstermacher D.A., Brown M.A., Kaplan F.S.
    Nat. Genet. 38:525-527(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT FOP HIS-206.
  8. "Patterns of somatic mutation in human cancer genomes."
    Greenman C., Stephens P., Smith R., Dalgliesh G.L., Hunter C., Bignell G., Davies H., Teague J., Butler A., Stevens C., Edkins S., O'Meara S., Vastrik I., Schmidt E.E., Avis T., Barthorpe S., Bhamra G., Buck G.
    , Choudhury B., Clements J., Cole J., Dicks E., Forbes S., Gray K., Halliday K., Harrison R., Hills K., Hinton J., Jenkinson A., Jones D., Menzies A., Mironenko T., Perry J., Raine K., Richardson D., Shepherd R., Small A., Tofts C., Varian J., Webb T., West S., Widaa S., Yates A., Cahill D.P., Louis D.N., Goldstraw P., Nicholson A.G., Brasseur F., Looijenga L., Weber B.L., Chiew Y.-E., DeFazio A., Greaves M.F., Green A.R., Campbell P., Birney E., Easton D.F., Chenevix-Trench G., Tan M.-H., Khoo S.K., Teh B.T., Yuen S.T., Leung S.Y., Wooster R., Futreal P.A., Stratton M.R.
    Nature 446:153-158(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS [LARGE SCALE ANALYSIS] GLY-15; PHE-41; GLN-47 AND SER-115.
  9. "Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1."
    Kaplan F.S., Xu M., Seemann P., Connor J.M., Glaser D.L., Carroll L., Delai P., Fastnacht-Urban E., Forman S.J., Gillessen-Kaesbach G., Hoover-Fong J., Koester B., Pauli R.M., Reardon W., Zaidi S.A., Zasloff M., Morhart R., Mundlos S., Groppe J., Shore E.M.
    Hum. Mutat. 30:379-390(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS FOP 197-PRO-PHE-198 DELINS LEU; HIS-206; GLU-207; ARG-328; TRP-328; GLU-328; ASP-356 AND PRO-375.
  10. "Novel mutations in ACVR1 result in atypical features in two fibrodysplasia ossificans progressiva patients."
    Petrie K.A., Lee W.H., Bullock A.N., Pointon J.J., Smith R., Russell R.G., Brown M.A., Wordsworth B.P., Triffitt J.T.
    PLoS ONE 4:E5005-E5005(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS FOP ILE-202 AND GLU-328.

Entry informationi

Entry nameiACVR1_HUMAN
AccessioniPrimary (citable) accession number: Q04771
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 1, 1994
Last sequence update: February 1, 1994
Last modified: July 9, 2014
This is version 154 of the entry and version 1 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 2
    Human chromosome 2: 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

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