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UniProtKB - Q04771 (ACVR1_HUMAN)

Entry version 205 (12 Aug 2020)
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%5Fsection">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 <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> 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 <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> 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 <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> 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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q04771

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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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%5Flocation%5Fsection">'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%5Flocation%5Fsection">'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.
Related information in OMIM
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

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q04771, Tchem

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL5903

Drug and drug target database

More...DrugBanki		DB00171, ATP
DB08597, Dorsomorphin
DB12010, Fostamatinib

DrugCentral

More...DrugCentrali		Q04771

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 or proteolytic cleavage.<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%5Fprocessing%5Fsection">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

More...EPDi		Q04771

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q04771

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q04771

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q04771

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

More...PaxDbi		Q04771

PeptideAtlas

More...PeptideAtlasi		Q04771

PRoteomics IDEntifications database

More...PRIDEi		Q04771

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		58283

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		Q04771, 1 site

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.

More...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 cartilage tissue and 245 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q04771, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q04771, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000115170, Low tissue specificity

<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%5Fsection">'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%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with FKBP1A (PubMed:22484487, Ref. 7).

Interacts with FCHO1 (PubMed:22484487).

Interacts with CLU (PubMed:8555189).

3 Publications

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		106605, 84 interactors

Database of interacting proteins

More...DIPi		DIP-212N

Protein interaction database and analysis system

More...IntActi		Q04771, 15 interactors

Molecular INTeraction database

More...MINTi		Q04771

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000263640

Chemistry databases

BindingDB database of measured binding affinities

More...BindingDBi		Q04771

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q04771, protein

<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

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

More...SMRi		Q04771

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		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%5Fand%5Fdomains%5Fsection">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

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

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG2052, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000160160

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_000288_8_5_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q04771

KEGG Orthology (KO)

More...KOi		K04675

Identification of Orthologs from Complete Genome Data

More...OMAi		CQGQQCF

Database of Orthologous Groups

More...OrthoDBi		1299087at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q04771

TreeFam database of animal gene trees

More...TreeFami		TF314724

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...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

More...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

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

Superfamily database of structural and functional annotation

More...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%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<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%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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 3 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 3 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>
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

More...EMBLi

GenBank nucleotide sequence database

More...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

More...CCDSi		CCDS2206.1

Protein sequence database of the Protein Information Resource

More...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

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000263640; ENSP00000263640; ENSG00000115170
ENST00000409283; ENSP00000387273; ENSG00000115170
ENST00000410057; ENSP00000387127; ENSG00000115170
ENST00000424669; ENSP00000400767; ENSG00000115170
ENST00000434821; ENSP00000405004; ENSG00000115170
ENST00000539637; ENSP00000440091; ENSG00000115170
ENST00000672582; ENSP00000500605; ENSG00000115170
ENST00000673324; ENSP00000500109; ENSG00000115170

Database of genes from NCBI RefSeq genomes

More...GeneIDi		90

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...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

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...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[»]
6ACRX-ray2.01A/B201-499[»]
6EIXX-ray2.30A172-509[»]
6GI6X-ray1.98A201-499[»]
6GINX-ray2.20A/B201-499[»]
6GIPX-ray2.17A201-499[»]
6I1SX-ray1.52A172-499[»]
6JUXX-ray1.75A201-499[»]
6SRHX-ray1.25A/B201-499[»]
6SZMX-ray1.42A/B201-499[»]
6T6DX-ray2.56A/B/C/D201-499[»]
6T8NX-ray1.77A/B201-499[»]
6TN8X-ray1.63A201-499[»]
SMRiQ04771
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi106605, 84 interactors
DIPiDIP-212N
IntActiQ04771, 15 interactors
MINTiQ04771
STRINGi9606.ENSP00000263640

Chemistry databases

BindingDBiQ04771
ChEMBLiCHEMBL5903
DrugBankiDB00171, ATP
DB08597, Dorsomorphin
DB12010, Fostamatinib
DrugCentraliQ04771
GuidetoPHARMACOLOGYi1785

PTM databases

GlyGeniQ04771, 1 site
iPTMnetiQ04771
PhosphoSitePlusiQ04771

Polymorphism and mutation databases

BioMutaiACVR1
DMDMi462447

Proteomic databases

EPDiQ04771
jPOSTiQ04771
MassIVEiQ04771
MaxQBiQ04771
PaxDbiQ04771
PeptideAtlasiQ04771
PRIDEiQ04771
ProteomicsDBi58283

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		2371, 605 antibodies

The DNASU plasmid repository

More...DNASUi		90

Genome annotation databases

EnsembliENST00000263640; ENSP00000263640; ENSG00000115170
ENST00000409283; ENSP00000387273; ENSG00000115170
ENST00000410057; ENSP00000387127; ENSG00000115170
ENST00000424669; ENSP00000400767; ENSG00000115170
ENST00000434821; ENSP00000405004; ENSG00000115170
ENST00000539637; ENSP00000440091; ENSG00000115170
ENST00000672582; ENSP00000500605; ENSG00000115170
ENST00000673324; ENSP00000500109; 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
HPAiENSG00000115170, Low tissue specificity
MalaCardsiACVR1
MIMi102576, gene
135100, phenotype
neXtProtiNX_Q04771
OpenTargetsiENSG00000115170
Orphaneti337, Fibrodysplasia ossificans progressiva
PharmGKBiPA24492

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG2052, Eukaryota
GeneTreeiENSGT00940000160160
HOGENOMiCLU_000288_8_5_1
InParanoidiQ04771
KOiK04675
OMAiCQGQQCF
OrthoDBi1299087at2759
PhylomeDBiQ04771
TreeFamiTF314724

Enzyme and pathway databases

BRENDAi2.7.10.2, 2681
PathwayCommonsiQ04771
SignaLinkiQ04771
SIGNORiQ04771

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		90, 6 hits in 907 CRISPR screens

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

More...GeneWikii		ACVR1

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

More...GenomeRNAii		90
PharosiQ04771, Tchem

Protein Ontology

More...PROi		PR:Q04771
RNActiQ04771, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000115170, Expressed in cartilage tissue and 245 other tissues
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...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		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%5Fand%5Fisoforms">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: August 12, 2020
This is version 205 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, Reference proteome

Documents

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