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Protein

Activin receptor type-1

Gene

ACVR1

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

Catalytic activityi

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

Cofactori

Mg2+By similarity, Mn2+By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei235ATPPROSITE-ProRule annotation1
Active sitei336Proton acceptorPROSITE-ProRule annotation1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi214 – 222ATPPROSITE-ProRule annotation9

GO - Molecular functioni

GO - Biological processi

Keywordsi

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

Enzyme and pathway databases

BRENDAi2.7.10.2 2681
SignaLinkiQ04771
SIGNORiQ04771

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
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000115170.13
HGNCiHGNC:171 ACVR1
MIMi102576 gene
neXtProtiNX_Q04771

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 domaini21 – 123ExtracellularSequence analysisAdd BLAST103
Transmembranei124 – 146HelicalSequence analysisAdd BLAST23
Topological domaini147 – 509CytoplasmicSequence analysisAdd BLAST363

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Fibrodysplasia ossificans progressiva (FOP)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:135100
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_058418197 – 198PF → L in FOP; variant phenotype. 1 Publication2
Natural variantiVAR_058419202R → I in FOP; with some atypical features. 1 PublicationCorresponds to variant dbSNP:rs387906591EnsemblClinVar.1
Natural variantiVAR_028444206R → H in FOP. 2 PublicationsCorresponds to variant dbSNP:rs121912678EnsemblClinVar.1
Natural variantiVAR_058420207Q → E in FOP; with some atypical features. 1 Publication1
Natural variantiVAR_058421328G → E in FOP; variant phenotype. 2 PublicationsCorresponds to variant dbSNP:rs387906589EnsemblClinVar.1
Natural variantiVAR_058422328G → R in FOP; variant phenotype. 1 PublicationCorresponds to variant dbSNP:rs387906588EnsemblClinVar.1
Natural variantiVAR_058423328G → W in FOP; variant phenotype. 1 PublicationCorresponds to variant dbSNP:rs387906588EnsemblClinVar.1
Natural variantiVAR_058424356G → D in FOP; variant phenotype. 1 PublicationCorresponds to variant dbSNP:rs121912679EnsemblClinVar.1
Natural variantiVAR_058425375R → P in FOP; variant phenotype. 1 PublicationCorresponds to variant dbSNP:rs387906590EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi90
MalaCardsiACVR1
MIMi135100 phenotype
OpenTargetsiENSG00000115170
Orphaneti337 Fibrodysplasia ossificans progressiva
PharmGKBiPA24492

Chemistry databases

ChEMBLiCHEMBL5903
DrugBankiDB00171 Adenosine triphosphate
GuidetoPHARMACOLOGYi1785

Polymorphism and mutation databases

BioMutaiACVR1
DMDMi462447

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 20By similarityAdd BLAST20
ChainiPRO_000002439421 – 509Activin receptor type-1Add BLAST489

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi102N-linked (GlcNAc...) asparagineSequence analysis1
Modified residuei501PhosphoserineCombined sources1

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

EPDiQ04771
MaxQBiQ04771
PaxDbiQ04771
PeptideAtlasiQ04771
PRIDEiQ04771
ProteomicsDBi58283

PTM databases

iPTMnetiQ04771
PhosphoSitePlusiQ04771

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000115170 Expressed in 234 organ(s), highest expression level in cartilage tissue
CleanExiHS_ACVR1
ExpressionAtlasiQ04771 baseline and differential
GenevisibleiQ04771 HS

Organism-specific databases

HPAiHPA007505
HPA046514

Interactioni

Subunit structurei

Interacts with FKBP1A. Interacts with FCHO1.2 Publications

GO - Molecular functioni

Protein-protein interaction databases

BioGridi106605, 72 interactors
DIPiDIP-212N
IntActiQ04771, 3 interactors
MINTiQ04771
STRINGi9606.ENSP00000263640

Chemistry databases

BindingDBiQ04771

Structurei

Secondary structure

1509
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ04771
SMRiQ04771
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ04771

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini178 – 207GSPROSITE-ProRule annotationAdd BLAST30
Domaini208 – 502Protein kinasePROSITE-ProRule annotationAdd BLAST295

Sequence similaritiesi

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2052 Eukaryota
ENOG410XQT0 LUCA
GeneTreeiENSGT00760000118876
HOGENOMiHOG000230587
HOVERGENiHBG054502
InParanoidiQ04771
KOiK04675
OMAiGHLCNMN
OrthoDBiEOG091G0BIU
PhylomeDBiQ04771
TreeFamiTF314724

Family and domain databases

InterProiView protein in InterPro
IPR000472 Activin_recp
IPR003605 GS_dom
IPR011009 Kinase-like_dom_sf
IPR000719 Prot_kinase_dom
IPR017441 Protein_kinase_ATP_BS
IPR008271 Ser/Thr_kinase_AS
IPR000333 TGFB_receptor
PANTHERiPTHR23255 PTHR23255, 1 hit
PfamiView protein in Pfam
PF01064 Activin_recp, 1 hit
PF00069 Pkinase, 1 hit
PF08515 TGF_beta_GS, 1 hit
PRINTSiPR00653 ACTIVIN2R
SMARTiView protein in SMART
SM00467 GS, 1 hit
SM00220 S_TKc, 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.Show allAlign All

Q04771-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MVDGVMILPV LIMIALPSPS MEDEKPKVNP KLYMCVCEGL SCGNEDHCEG
60 70 80 90 100
QQCFSSLSIN DGFHVYQKGC FQVYEQGKMT CKTPPSPGQA VECCQGDWCN
110 120 130 140 150
RNITAQLPTK GKSFPGTQNF HLEVGLIILS VVFAVCLLAC LLGVALRKFK
160 170 180 190 200
RRNQERLNPR DVEYGTIEGL ITTNVGDSTL ADLLDHSCTS GSGSGLPFLV
210 220 230 240 250
QRTVARQITL LECVGKGRYG EVWRGSWQGE NVAVKIFSSR DEKSWFRETE
260 270 280 290 300
LYNTVMLRHE NILGFIASDM TSRHSSTQLW LITHYHEMGS LYDYLQLTTL
310 320 330 340 350
DTVSCLRIVL SIASGLAHLH IEIFGTQGKP AIAHRDLKSK NILVKKNGQC
360 370 380 390 400
CIADLGLAVM HSQSTNQLDV GNNPRVGTKR YMAPEVLDET IQVDCFDSYK
410 420 430 440 450
RVDIWAFGLV LWEVARRMVS NGIVEDYKPP FYDVVPNDPS FEDMRKVVCV
460 470 480 490 500
DQQRPNIPNR WFSDPTLTSL AKLMKECWYQ NPSARLTALR IKKTLTKIDN

SLDKLKTDC
Length:509
Mass (Da):57,153
Last modified:February 1, 1994 - v1
Checksum:iE2B0F051D19DD052
GO

Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9JHJ7C9JHJ7_HUMAN
Activin receptor type-1
ACVR1
87Annotation score:
F5GY91F5GY91_HUMAN
Activin receptor type-1
ACVR1
72Annotation score:
C9J1R3C9J1R3_HUMAN
Activin receptor type-1
ACVR1
71Annotation score:
A0A1B0GXA9A0A1B0GXA9_HUMAN
Activin receptor type-1
ACVR1
86Annotation score:
C9JW28C9JW28_HUMAN
Activin receptor type-1
ACVR1
21Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04139215A → G1 PublicationCorresponds to variant dbSNP:rs13406336EnsemblClinVar.1
Natural variantiVAR_04139341S → F1 PublicationCorresponds to variant dbSNP:rs55957214Ensembl.1
Natural variantiVAR_04139447H → Q1 PublicationCorresponds to variant dbSNP:rs34056189EnsemblClinVar.1
Natural variantiVAR_041395115P → S in a melanoma sample; somatic mutation. 1 Publication1
Natural variantiVAR_058418197 – 198PF → L in FOP; variant phenotype. 1 Publication2
Natural variantiVAR_058419202R → I in FOP; with some atypical features. 1 PublicationCorresponds to variant dbSNP:rs387906591EnsemblClinVar.1
Natural variantiVAR_028444206R → H in FOP. 2 PublicationsCorresponds to variant dbSNP:rs121912678EnsemblClinVar.1
Natural variantiVAR_058420207Q → E in FOP; with some atypical features. 1 Publication1
Natural variantiVAR_058421328G → E in FOP; variant phenotype. 2 PublicationsCorresponds to variant dbSNP:rs387906589EnsemblClinVar.1
Natural variantiVAR_058422328G → R in FOP; variant phenotype. 1 PublicationCorresponds to variant dbSNP:rs387906588EnsemblClinVar.1
Natural variantiVAR_058423328G → W in FOP; variant phenotype. 1 PublicationCorresponds to variant dbSNP:rs387906588EnsemblClinVar.1
Natural variantiVAR_058424356G → D in FOP; variant phenotype. 1 PublicationCorresponds to variant dbSNP:rs121912679EnsemblClinVar.1
Natural variantiVAR_058425375R → P in FOP; variant phenotype. 1 PublicationCorresponds to variant dbSNP:rs387906590EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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
NP_001334592.1, NM_001347663.1
NP_001334593.1, NM_001347664.1
NP_001334594.1, NM_001347665.1
NP_001334595.1, NM_001347666.1
NP_001334596.1, NM_001347667.1
XP_006712888.1, XM_006712825.3
XP_011510410.1, XM_011512108.2
UniGeneiHs.470316

Genome annotation databases

EnsembliENST00000263640; ENSP00000263640; ENSG00000115170
ENST00000409283; ENSP00000387273; ENSG00000115170
ENST00000410057; ENSP00000387127; ENSG00000115170
ENST00000434821; ENSP00000405004; ENSG00000115170
GeneIDi90
KEGGihsa:90
UCSCiuc002tzm.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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
NP_001334592.1, NM_001347663.1
NP_001334593.1, NM_001347664.1
NP_001334594.1, NM_001347665.1
NP_001334595.1, NM_001347666.1
NP_001334596.1, NM_001347667.1
XP_006712888.1, XM_006712825.3
XP_011510410.1, XM_011512108.2
UniGeneiHs.470316

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB 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[»]
5OXGX-ray2.13A/B/C/D201-499[»]
5OY6X-ray2.56A/B/C/D201-499[»]
6EIXX-ray2.30A172-509[»]
6GI6X-ray1.98A201-499[»]
6GINX-ray2.20A/B201-499[»]
6GIPX-ray2.17A201-499[»]
ProteinModelPortaliQ04771
SMRiQ04771
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi106605, 72 interactors
DIPiDIP-212N
IntActiQ04771, 3 interactors
MINTiQ04771
STRINGi9606.ENSP00000263640

Chemistry databases

BindingDBiQ04771
ChEMBLiCHEMBL5903
DrugBankiDB00171 Adenosine triphosphate
GuidetoPHARMACOLOGYi1785

PTM databases

iPTMnetiQ04771
PhosphoSitePlusiQ04771

Polymorphism and mutation databases

BioMutaiACVR1
DMDMi462447

Proteomic databases

EPDiQ04771
MaxQBiQ04771
PaxDbiQ04771
PeptideAtlasiQ04771
PRIDEiQ04771
ProteomicsDBi58283

Protocols and materials databases

DNASUi90
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000263640; ENSP00000263640; ENSG00000115170
ENST00000409283; ENSP00000387273; ENSG00000115170
ENST00000410057; ENSP00000387127; ENSG00000115170
ENST00000434821; ENSP00000405004; ENSG00000115170
GeneIDi90
KEGGihsa:90
UCSCiuc002tzm.4 human

Organism-specific databases

CTDi90
DisGeNETi90
EuPathDBiHostDB:ENSG00000115170.13
GeneCardsiACVR1
HGNCiHGNC:171 ACVR1
HPAiHPA007505
HPA046514
MalaCardsiACVR1
MIMi102576 gene
135100 phenotype
neXtProtiNX_Q04771
OpenTargetsiENSG00000115170
Orphaneti337 Fibrodysplasia ossificans progressiva
PharmGKBiPA24492
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2052 Eukaryota
ENOG410XQT0 LUCA
GeneTreeiENSGT00760000118876
HOGENOMiHOG000230587
HOVERGENiHBG054502
InParanoidiQ04771
KOiK04675
OMAiGHLCNMN
OrthoDBiEOG091G0BIU
PhylomeDBiQ04771
TreeFamiTF314724

Enzyme and pathway databases

BRENDAi2.7.10.2 2681
SignaLinkiQ04771
SIGNORiQ04771

Miscellaneous databases

ChiTaRSiACVR1 human
EvolutionaryTraceiQ04771
GeneWikiiACVR1
GenomeRNAii90
PROiPR:Q04771
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000115170 Expressed in 234 organ(s), highest expression level in cartilage tissue
CleanExiHS_ACVR1
ExpressionAtlasiQ04771 baseline and differential
GenevisibleiQ04771 HS

Family and domain databases

InterProiView protein in InterPro
IPR000472 Activin_recp
IPR003605 GS_dom
IPR011009 Kinase-like_dom_sf
IPR000719 Prot_kinase_dom
IPR017441 Protein_kinase_ATP_BS
IPR008271 Ser/Thr_kinase_AS
IPR000333 TGFB_receptor
PANTHERiPTHR23255 PTHR23255, 1 hit
PfamiView protein in Pfam
PF01064 Activin_recp, 1 hit
PF00069 Pkinase, 1 hit
PF08515 TGF_beta_GS, 1 hit
PRINTSiPR00653 ACTIVIN2R
SMARTiView protein in SMART
SM00467 GS, 1 hit
SM00220 S_TKc, 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
ProtoNetiSearch...

Entry informationi

Entry nameiACVR1_HUMAN
AccessioniPrimary (citable) accession number: Q04771
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 1994
Last sequence update: February 1, 1994
Last modified: October 10, 2018
This is version 190 of the entry and version 1 of the sequence. See 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. Human and mouse protein kinases
    Human and mouse protein kinases: classification and index
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  7. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
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