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ACVR1

GENERAL INFORMATION

Gene name

 ACVR1

Gene description

 Activin A receptor, type I

Protein class

 Cancer-related genes
Disease related genes
Enzymes
Potential drug targets
Predicted intracellular proteins
Predicted membrane proteins
Predicted secreted proteins

Predicted localization

 Intracellular,Membrane,Secreted

Number of transcripts

 9
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Expressed in all
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 Cytoplasmic expression in most tissues, including smooth muscle positivity.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data.

Reliability score

 Approved based on 1 antibody.
HPA007505
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Smooth muscle

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

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

PROTEIN INFORMATION

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

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.