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Entry version 194 (13 Feb 2019)
Sequence version 1 (01 Feb 1994)
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Protein

Activin receptor type-1

Gene

ACVR1

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

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the ‘Function’ section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

Mg2+By similarity, Mn2+By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei235ATPPROSITE-ProRule annotation1
<p>This subsection of the ‘Function’ section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei336Proton acceptorPROSITE-ProRule annotation1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi214 – 222ATPPROSITE-ProRule annotation9

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

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

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

More...
BRENDAi
2.7.10.2 2681

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...
SignaLinki
Q04771

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q04771

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:ACVR1
Synonyms:ACVRLK2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 2

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000115170.13

Human Gene Nomenclature Database

More...
HGNCi
HGNC:171 ACVR1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
102576 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q04771

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini21 – 123ExtracellularSequence analysisAdd BLAST103
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei124 – 146HelicalSequence analysisAdd BLAST23
Topological domaini147 – 509CytoplasmicSequence analysisAdd BLAST363

Keywords - Cellular componenti

Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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

DisGeNET

More...
DisGeNETi
90

MalaCards human disease database

More...
MalaCardsi
ACVR1
MIMi135100 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000115170

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
337 Fibrodysplasia ossificans progressiva

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA24492

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL5903

Drug and drug target database

More...
DrugBanki
DB00171 Adenosine triphosphate

IUPHAR/BPS Guide to PHARMACOLOGY

More...
GuidetoPHARMACOLOGYi
1785

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
ACVR1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
462447

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 20By similarityAdd BLAST20
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000002439421 – 509Activin receptor type-1Add BLAST489

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi102N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei501PhosphoserineCombined sources1

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q04771

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q04771

MaxQB - The MaxQuant DataBase

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MaxQBi
Q04771

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q04771

PeptideAtlas

More...
PeptideAtlasi
Q04771

PRoteomics IDEntifications database

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PRIDEi
Q04771

ProteomicsDB human proteome resource

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ProteomicsDBi
58283

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q04771

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q04771

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000115170 Expressed in 234 organ(s), highest expression level in cartilage tissue

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q04771 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q04771 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA007505
HPA046514

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with FKBP1A. Interacts with FCHO1.2 Publications

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
106605, 77 interactors

Database of interacting proteins

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DIPi
DIP-212N

Protein interaction database and analysis system

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IntActi
Q04771, 3 interactors

Molecular INTeraction database

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MINTi
Q04771

STRING: functional protein association networks

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STRINGi
9606.ENSP00000263640

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
Q04771

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

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

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

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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[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q04771

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q04771

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
Q04771

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini178 – 207GSPROSITE-ProRule annotationAdd BLAST30
Domaini208 – 502Protein kinasePROSITE-ProRule annotationAdd BLAST295

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG2052 Eukaryota
ENOG410XQT0 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000160160

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000230587

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG054502

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q04771

KEGG Orthology (KO)

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KOi
K04675

Identification of Orthologs from Complete Genome Data

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OMAi
GHLCNMN

Database of Orthologous Groups

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OrthoDBi
776697at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q04771

TreeFam database of animal gene trees

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TreeFami
TF314724

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR000472 Activin_recp
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

The PANTHER Classification System

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PANTHERi
PTHR23255 PTHR23255, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF01064 Activin_recp, 1 hit
PF07714 Pkinase_Tyr, 1 hit
PF08515 TGF_beta_GS, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR00653 ACTIVIN2R

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00467 GS, 1 hit
SM00220 S_TKc, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF56112 SSF56112, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View 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

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iE2B0F051D19DD052
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>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:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9J1R3C9J1R3_HUMAN
Activin receptor type-1
ACVR1
71Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F5GY91F5GY91_HUMAN
Activin receptor type-1
ACVR1
72Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GXA9A0A1B0GXA9_HUMAN
Activin receptor type-1
ACVR1
86Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9JW28C9JW28_HUMAN
Activin receptor type-1
ACVR1
21Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

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:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
L02911 mRNA Translation: AAA36614.1
Z22534 mRNA Translation: CAA80256.1
BC033867 mRNA Translation: AAH33867.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS2206.1

Protein sequence database of the Protein Information Resource

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PIRi
A45992

NCBI Reference Sequences

More...
RefSeqi
NP_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

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.470316

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000263640; ENSP00000263640; ENSG00000115170
ENST00000409283; ENSP00000387273; ENSG00000115170
ENST00000410057; ENSP00000387127; ENSG00000115170
ENST00000434821; ENSP00000405004; ENSG00000115170

Database of genes from NCBI RefSeq genomes

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GeneIDi
90

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:90

UCSC genome browser

More...
UCSCi
uc002tzm.4 human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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, 77 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
jPOSTiQ04771
MaxQBiQ04771
PaxDbiQ04771
PeptideAtlasiQ04771
PRIDEiQ04771
ProteomicsDBi58283

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
90
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

Comparative Toxicogenomics Database

More...
CTDi
90
DisGeNETi90
EuPathDBiHostDB:ENSG00000115170.13

GeneCards: human genes, protein and diseases

More...
GeneCardsi
ACVR1
HGNCiHGNC:171 ACVR1
HPAiHPA007505
HPA046514
MalaCardsiACVR1
MIMi102576 gene
135100 phenotype
neXtProtiNX_Q04771
OpenTargetsiENSG00000115170
Orphaneti337 Fibrodysplasia ossificans progressiva
PharmGKBiPA24492

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2052 Eukaryota
ENOG410XQT0 LUCA
GeneTreeiENSGT00940000160160
HOGENOMiHOG000230587
HOVERGENiHBG054502
InParanoidiQ04771
KOiK04675
OMAiGHLCNMN
OrthoDBi776697at2759
PhylomeDBiQ04771
TreeFamiTF314724

Enzyme and pathway databases

BRENDAi2.7.10.2 2681
SignaLinkiQ04771
SIGNORiQ04771

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
ACVR1 human
EvolutionaryTraceiQ04771

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
ACVR1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
90

Protein Ontology

More...
PROi
PR:Q04771

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000115170 Expressed in 234 organ(s), highest expression level in cartilage tissue
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
IPR001245 Ser-Thr/Tyr_kinase_cat_dom
IPR008271 Ser/Thr_kinase_AS
IPR000333 TGFB_receptor
PANTHERiPTHR23255 PTHR23255, 1 hit
PfamiView protein in Pfam
PF01064 Activin_recp, 1 hit
PF07714 Pkinase_Tyr, 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

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiACVR1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q04771
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 1994
Last sequence update: February 1, 1994
Last modified: February 13, 2019
This is version 194 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human and mouse protein kinases
    Human and mouse protein kinases: classification and index
  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 polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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