Expression of ACVR1 in cancer - Summary

GENERAL INFORMATION
Gene nameⁱ Gene name according to HGNC.	ACVR1
Gene descriptionⁱ Gene description according to HGNC.	Activin A receptor, type I
Protein classⁱ Protein class the gene product belongs to according to selected gene lists. List of protein classes.	Cancer-related genes Disease related genes Enzymes Potential drug targets Predicted intracellular proteins Predicted membrane proteins Predicted secreted proteins
Predicted localizationⁱ Protein localization predicted from several bioinformatic algorithms. Read more	Intracellular,Membrane,Secreted
Number of transcriptsⁱ Number of protein-coding transcribed from this gene as defined by Ensembl.	9
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HUMAN PROTEIN ATLAS INFORMATION

RNA categoryⁱ

TCGA (cancer tissue):	Expressed in all
HPA (cell line):	Mixed
HPA (normal tissue):	Expressed in all

Protein evidenceⁱ

Evidence at protein level

Protein expression
normal tissueⁱ

Cytoplasmic expression in most tissues, including smooth muscle positivity.

ANTIBODY IHC RELIABILITY
Data reliability descriptionⁱ Standardized explanatory sentences with additional information required for full understanding of the knowledge-based expression profile.	Antibody staining mainly consistent with RNA expression data.
Reliability scoreⁱ Reliability score (score description), divided into Supported, Approved, or Uncertain, is evaluated in normal tissues and based on consistency between the staining pattern of one antibody or several antibodies with RNA-seq data and available gene/protein characterization data. Read more	Approved based on 1 antibody. HPA007505
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PROGNOSTIC SUMMARYⁱ Kaplan-Meier plots for all cancers where high expression of this gene has significant (p<0.001) association with patient survival are shown in this summary. Whether the prognosis is favourable or unfavourable is indicated in brackets. Each Kaplan-Meier plot is clickable and redirects to a detailed page that includes individual expression and survival data for patients with the selected cancer.
Prognostic marker in urothelial cancer (unfavourable).
Urothelial cancer p<0.001 Show all

RNA EXPRESSION OVERVIEWⁱ

TCGA datasetⁱ
RNA-seq data in 17 cancer types are reported as median FPKM (number Fragments Per Kilobase of exon per Million reads), generated by the The Cancer Genome Atlas (TCGA). RNA cancer tissue category is calculated based on mRNA expression levels across all 17 cancer tissues and include: cancer tissue enriched, cancer group enriched, cancer tissue enhanced, expressed in all, mixed and not detected. To access cancer specific RNA and prognostic data, click on the cancer name.

Read more

RNA cancer category: Expressed in all

PROTEIN EXPRESSIONⁱ

STAINING SUMMARYⁱ

HPA007505

GENE INFORMATIONⁱ Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Gene name	ACVR1 (HGNC Symbol)
Synonyms	ACVR1A, ACVRLK2, ALK2, SKR1
Description	Activin A receptor, type I (HGNC Symbol)
Entrez gene summary	Activins are dimeric growth and differentiation factors which belong to the transforming growth factor-beta (TGF-beta) superfamily of structurally related signaling proteins. Activins signal through a heteromeric complex of receptor serine kinases which include at least two type I ( I and IB) and two type II (II and IIB) receptors. These receptors are all transmembrane proteins, composed of a ligand-binding extracellular domain with cysteine-rich region, a transmembrane domain, and a cytoplasmic domain with predicted serine/threonine specificity. Type I receptors are essential for signaling; and type II receptors are required for binding ligands and for expression of type I receptors. Type I and II receptors form a stable complex after ligand binding, resulting in phosphorylation of type I receptors by type II receptors. This gene encodes activin A type I receptor which signals a particular transcriptional response in concert with activin type II receptors. Mutations in this gene are associated with fibrodysplasia ossificans progressive. [provided by RefSeq, Jul 2008]
Chromosome	2
Cytoband	q24.1
Chromosome location (bp)	157736444 - 157875862
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000115170 (version 83.38)
Entrez gene	90
UniProt	Q04771 (UniProt - Evidence at protein level)
neXtProt	NX_Q04771
Antibodypedia	ACVR1 antibodies

PROTEIN BROWSERⁱ

ACVR1-001	ACVR1-002	ACVR1-003	ACVR1-004	ACVR1-005	ACVR1-006	ACVR1-007	ACVR1-009	ACVR1-201

PROTEIN INFORMATIONⁱ The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database. The ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein. The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class. The Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
ACVR1-001 ENSP00000263640 ENST00000263640	Q04771 [Direct mapping] Activin receptor type-1 D3DPA4 [Target identity:100%; Query identity:100%] Serine/threonine-protein kinase receptor Show all	Enzymes ENZYME proteins Transferases Kinases TKL Ser/Thr protein kinases Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0000082 [G1/S transition of mitotic cell cycle] GO:0001569 [patterning of blood vessels] GO:0001701 [in utero embryonic development] GO:0001702 [gastrulation with mouth forming second] GO:0001707 [mesoderm formation] GO:0001755 [neural crest cell migration] GO:0002526 [acute inflammatory response] GO:0003143 [embryonic heart tube morphogenesis] GO:0003183 [mitral valve morphogenesis] GO:0003289 [atrial septum primum morphogenesis] GO:0004672 [protein kinase activity] GO:0004674 [protein serine/threonine kinase activity] GO:0004675 [transmembrane receptor protein serine/threonine kinase activity] GO:0004702 [receptor signaling protein serine/threonine kinase activity] GO:0005025 [transforming growth factor beta receptor activity, type I] GO:0005515 [protein binding] GO:0005524 [ATP binding] GO:0005887 [integral component of plasma membrane] GO:0006468 [protein phosphorylation] GO:0007179 [transforming growth factor beta receptor signaling pathway] GO:0007281 [germ cell development] GO:0007368 [determination of left/right symmetry] GO:0007369 [gastrulation] GO:0007498 [mesoderm development] GO:0007507 [heart development] GO:0009968 [negative regulation of signal transduction] GO:0010862 [positive regulation of pathway-restricted SMAD protein phosphorylation] GO:0016020 [membrane] GO:0016361 [activin receptor activity, type I] GO:0017046 [peptide hormone binding] GO:0018107 [peptidyl-threonine phosphorylation] GO:0019838 [growth factor binding] GO:0023014 [signal transduction by protein phosphorylation] GO:0030278 [regulation of ossification] GO:0030501 [positive regulation of bone mineralization] GO:0030509 [BMP signaling pathway] GO:0032924 [activin receptor signaling pathway] GO:0032926 [negative regulation of activin receptor signaling pathway] GO:0042803 [protein homodimerization activity] GO:0045177 [apical part of cell] GO:0045669 [positive regulation of osteoblast differentiation] GO:0045893 [positive regulation of transcription, DNA-templated] GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] GO:0046332 [SMAD binding] GO:0046872 [metal ion binding] GO:0048179 [activin receptor complex] GO:0048185 [activin binding] GO:0050431 [transforming growth factor beta binding] GO:0051145 [smooth muscle cell differentiation] GO:0060037 [pharyngeal system development] GO:0060389 [pathway-restricted SMAD protein phosphorylation] GO:0060923 [cardiac muscle cell fate commitment] GO:0061445 [endocardial cushion cell fate commitment] GO:0071385 [cellular response to glucocorticoid stimulus] GO:0071773 [cellular response to BMP stimulus] GO:2000017 [positive regulation of determination of dorsal identity] GO:2001237 [negative regulation of extrinsic apoptotic signaling pathway] Show all	509 aa 57.2 kDa	Yes	1
ACVR1-002 ENSP00000440091 ENST00000539637	F5GY91 [Direct mapping] Activin receptor type-1 Show all	MEMSAT3 predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Protein evidence (Ezkurdia et al 2014) Show all	GO:0004702 [receptor signaling protein serine/threonine kinase activity] GO:0005524 [ATP binding] GO:0007178 [transmembrane receptor protein serine/threonine kinase signaling pathway] GO:0016020 [membrane] GO:0023014 [signal transduction by protein phosphorylation] Show all	73 aa 8.1 kDa	Yes	0
ACVR1-003 ENSP00000387273 ENST00000409283	Q04771 [Direct mapping] Activin receptor type-1 D3DPA4 [Target identity:100%; Query identity:100%] Serine/threonine-protein kinase receptor Show all	Enzymes ENZYME proteins Transferases Kinases TKL Ser/Thr protein kinases Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Disease related genes Potential drug targets Protein evidence (Ezkurdia et al 2014) Show all	GO:0000082 [G1/S transition of mitotic cell cycle] GO:0003143 [embryonic heart tube morphogenesis] GO:0003183 [mitral valve morphogenesis] GO:0003289 [atrial septum primum morphogenesis] GO:0004672 [protein kinase activity] GO:0004674 [protein serine/threonine kinase activity] GO:0004675 [transmembrane receptor protein serine/threonine kinase activity] GO:0004702 [receptor signaling protein serine/threonine kinase activity] GO:0005515 [protein binding] GO:0005524 [ATP binding] GO:0005887 [integral component of plasma membrane] GO:0006468 [protein phosphorylation] GO:0007179 [transforming growth factor beta receptor signaling pathway] GO:0009968 [negative regulation of signal transduction] GO:0010862 [positive regulation of pathway-restricted SMAD protein phosphorylation] GO:0016020 [membrane] GO:0016361 [activin receptor activity, type I] GO:0017046 [peptide hormone binding] GO:0018107 [peptidyl-threonine phosphorylation] GO:0023014 [signal transduction by protein phosphorylation] GO:0030278 [regulation of ossification] GO:0030501 [positive regulation of bone mineralization] GO:0030509 [BMP signaling pathway] GO:0032924 [activin receptor signaling pathway] GO:0032926 [negative regulation of activin receptor signaling pathway] GO:0042803 [protein homodimerization activity] GO:0045669 [positive regulation of osteoblast differentiation] GO:0045893 [positive regulation of transcription, DNA-templated] GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] GO:0046332 [SMAD binding] GO:0046872 [metal ion binding] GO:0048179 [activin receptor complex] GO:0048185 [activin binding] GO:0050431 [transforming growth factor beta binding] GO:0060389 [pathway-restricted SMAD protein phosphorylation] GO:0060923 [cardiac muscle cell fate commitment] GO:0061445 [endocardial cushion cell fate commitment] GO:0071773 [cellular response to BMP stimulus] GO:2000017 [positive regulation of determination of dorsal identity] GO:2001237 [negative regulation of extrinsic apoptotic signaling pathway] Show all	509 aa 57.2 kDa	Yes	1
ACVR1-004 ENSP00000400767 ENST00000424669	C9J1R3 [Direct mapping] Activin receptor type-1 Show all	MEMSAT3 predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Protein evidence (Ezkurdia et al 2014) Show all	GO:0004702 [receptor signaling protein serine/threonine kinase activity] GO:0005524 [ATP binding] GO:0007178 [transmembrane receptor protein serine/threonine kinase signaling pathway] GO:0016020 [membrane] GO:0023014 [signal transduction by protein phosphorylation] Show all	71 aa 7.8 kDa	Yes	0
ACVR1-005 ENSP00000401189 ENST00000440523	C9JHJ7 [Direct mapping] Activin receptor type-1 Show all	MEMSAT3 predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Protein evidence (Ezkurdia et al 2014) Show all	GO:0004702 [receptor signaling protein serine/threonine kinase activity] GO:0005524 [ATP binding] GO:0007178 [transmembrane receptor protein serine/threonine kinase signaling pathway] GO:0016020 [membrane] GO:0023014 [signal transduction by protein phosphorylation] Show all	87 aa 9.6 kDa	Yes	0
ACVR1-006 ENSP00000399322 ENST00000413751	C9JW28 [Direct mapping] Activin receptor type-1 Show all	SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Protein evidence (Ezkurdia et al 2014) Show all		21 aa 2.2 kDa	No	0
ACVR1-007 ENSP00000403006 ENST00000412025	C9JHJ7 [Direct mapping] Activin receptor type-1 Show all	MEMSAT3 predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Protein evidence (Ezkurdia et al 2014) Show all	GO:0004702 [receptor signaling protein serine/threonine kinase activity] GO:0005524 [ATP binding] GO:0007178 [transmembrane receptor protein serine/threonine kinase signaling pathway] GO:0016020 [membrane] GO:0023014 [signal transduction by protein phosphorylation] Show all	87 aa 9.6 kDa	Yes	0
ACVR1-009 ENSP00000387127 ENST00000410057	Q04771 [Direct mapping] Activin receptor type-1 D3DPA4 [Target identity:100%; Query identity:100%] Serine/threonine-protein kinase receptor Show all	Enzymes ENZYME proteins Transferases Kinases TKL Ser/Thr protein kinases Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Disease related genes Potential drug targets Protein evidence (Ezkurdia et al 2014) Show all	GO:0000082 [G1/S transition of mitotic cell cycle] GO:0003143 [embryonic heart tube morphogenesis] GO:0003183 [mitral valve morphogenesis] GO:0003289 [atrial septum primum morphogenesis] GO:0004672 [protein kinase activity] GO:0004674 [protein serine/threonine kinase activity] GO:0004675 [transmembrane receptor protein serine/threonine kinase activity] GO:0004702 [receptor signaling protein serine/threonine kinase activity] GO:0005515 [protein binding] GO:0005524 [ATP binding] GO:0005887 [integral component of plasma membrane] GO:0006468 [protein phosphorylation] GO:0007179 [transforming growth factor beta receptor signaling pathway] GO:0009968 [negative regulation of signal transduction] GO:0010862 [positive regulation of pathway-restricted SMAD protein phosphorylation] GO:0016020 [membrane] GO:0016361 [activin receptor activity, type I] GO:0017046 [peptide hormone binding] GO:0018107 [peptidyl-threonine phosphorylation] GO:0023014 [signal transduction by protein phosphorylation] GO:0030278 [regulation of ossification] GO:0030501 [positive regulation of bone mineralization] GO:0030509 [BMP signaling pathway] GO:0032924 [activin receptor signaling pathway] GO:0032926 [negative regulation of activin receptor signaling pathway] GO:0042803 [protein homodimerization activity] GO:0045669 [positive regulation of osteoblast differentiation] GO:0045893 [positive regulation of transcription, DNA-templated] GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] GO:0046332 [SMAD binding] GO:0046872 [metal ion binding] GO:0048179 [activin receptor complex] GO:0048185 [activin binding] GO:0050431 [transforming growth factor beta binding] GO:0060389 [pathway-restricted SMAD protein phosphorylation] GO:0060923 [cardiac muscle cell fate commitment] GO:0061445 [endocardial cushion cell fate commitment] GO:0071773 [cellular response to BMP stimulus] GO:2000017 [positive regulation of determination of dorsal identity] GO:2001237 [negative regulation of extrinsic apoptotic signaling pathway] Show all	509 aa 57.2 kDa	Yes	1
ACVR1-201 ENSP00000405004 ENST00000434821	Q04771 [Direct mapping] Activin receptor type-1 D3DPA4 [Target identity:100%; Query identity:100%] Serine/threonine-protein kinase receptor Show all	Enzymes ENZYME proteins Transferases Kinases TKL Ser/Thr protein kinases Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Missense Mutations Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0000082 [G1/S transition of mitotic cell cycle] GO:0003143 [embryonic heart tube morphogenesis] GO:0003183 [mitral valve morphogenesis] GO:0003289 [atrial septum primum morphogenesis] GO:0004672 [protein kinase activity] GO:0004674 [protein serine/threonine kinase activity] GO:0004675 [transmembrane receptor protein serine/threonine kinase activity] GO:0004702 [receptor signaling protein serine/threonine kinase activity] GO:0005515 [protein binding] GO:0005524 [ATP binding] GO:0005887 [integral component of plasma membrane] GO:0006468 [protein phosphorylation] GO:0007179 [transforming growth factor beta receptor signaling pathway] GO:0009968 [negative regulation of signal transduction] GO:0010862 [positive regulation of pathway-restricted SMAD protein phosphorylation] GO:0016020 [membrane] GO:0016361 [activin receptor activity, type I] GO:0017046 [peptide hormone binding] GO:0018107 [peptidyl-threonine phosphorylation] GO:0023014 [signal transduction by protein phosphorylation] GO:0030278 [regulation of ossification] GO:0030501 [positive regulation of bone mineralization] GO:0030509 [BMP signaling pathway] GO:0032924 [activin receptor signaling pathway] GO:0032926 [negative regulation of activin receptor signaling pathway] GO:0042803 [protein homodimerization activity] GO:0045669 [positive regulation of osteoblast differentiation] GO:0045893 [positive regulation of transcription, DNA-templated] GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] GO:0046332 [SMAD binding] GO:0046872 [metal ion binding] GO:0048179 [activin receptor complex] GO:0048185 [activin binding] GO:0050431 [transforming growth factor beta binding] GO:0060389 [pathway-restricted SMAD protein phosphorylation] GO:0060923 [cardiac muscle cell fate commitment] GO:0061445 [endocardial cushion cell fate commitment] GO:0071773 [cellular response to BMP stimulus] GO:2000017 [positive regulation of determination of dorsal identity] GO:2001237 [negative regulation of extrinsic apoptotic signaling pathway] Show all	509 aa 57.2 kDa	Yes	1