Acvr1 activin A receptor, type 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Acvr1provided by MGI
Official Full Name: activin A receptor, type 1provided by MGI
Primary source: MGI:MGI:87911
See related: Ensembl:ENSMUSG00000026836 AllianceGenome:MGI:87911
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: ALK2; Acvr; Alk8; SKR1; Alk-2; Tsk7L; ActR-I; ActRIA; Acvr1a; Acvrlk2; D330013D15Rik
Summary: Enables activin binding activity; transforming growth factor beta binding activity; and transmembrane receptor protein serine/threonine kinase activity. Involved in several processes, including BMP signaling pathway; heart development; and positive regulation of SMAD protein signal transduction. Acts upstream of or within several processes, including chordate embryonic development; circulatory system development; and gastrulation. Located in apical part of cell and plasma membrane. Is expressed in several structures, including alimentary system; brain; limb; male reproductive gland or organ; and sensory organ. Used to study fibrodysplasia ossificans progressiva. Human ortholog(s) of this gene implicated in exfoliation syndrome; fibrodysplasia ossificans progressiva; primary angle-closure glaucoma; and primary open angle glaucoma. Orthologous to human ACVR1 (activin A receptor type 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in bladder adult (RPKM 6.5), limb E14.5 (RPKM 6.5) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 C1.1; 2 33.05 cM

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (58336450..58456840, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (58446438..58566828, complement)

Chromosome 2 - NC_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

BRCC3 Regulation of ALK2 in Vascular Smooth Muscle Cells: Implication in Pulmonary Hypertension.
Title: BRCC3 Regulation of ALK2 in Vascular Smooth Muscle Cells: Implication in Pulmonary Hypertension.
AAV-Mediated Targeting of the Activin A-ACVR1[R206H] Signaling in Fibrodysplasia Ossificans Progressiva.
Title: AAV-Mediated Targeting of the Activin A-ACVR1(R206H) Signaling in Fibrodysplasia Ossificans Progressiva.
Overexpression of Wild-Type ACVR1 in Fibrodysplasia Ossificans Progressiva Mice Rescues Perinatal Lethality and Inhibits Heterotopic Ossification.
Title: Overexpression of Wild-Type ACVR1 in Fibrodysplasia Ossificans Progressiva Mice Rescues Perinatal Lethality and Inhibits Heterotopic Ossification.
Enhanced BMP signaling through ALK2 attenuates keratinocyte differentiation.
Title: Enhanced BMP signaling through ALK2 attenuates keratinocyte differentiation.
Upregulation of oncogene Activin A receptor type I by Helicobacter pylori infection promotes gastric intestinal metaplasia via regulating CDX2.
Title: Upregulation of oncogene Activin A receptor type I by Helicobacter pylori infection promotes gastric intestinal metaplasia via regulating CDX2.
Augmented BMP signaling commits cranial neural crest cells to a chondrogenic fate by suppressing autophagic beta-catenin degradation.
Title: Augmented BMP signaling commits cranial neural crest cells to a chondrogenic fate by suppressing autophagic β-catenin degradation.
Acvr1 deletion in osteoblasts impaired mandibular bone mass through compromised osteoblast differentiation and enhanced sRANKL-induced osteoclastogenesis.
Title: Acvr1 deletion in osteoblasts impaired mandibular bone mass through compromised osteoblast differentiation and enhanced sRANKL-induced osteoclastogenesis.
Dysregulated BMP signaling through ACVR1 impairs digit joint development in fibrodysplasia ossificans progressiva (FOP).
Title: Dysregulated BMP signaling through ACVR1 impairs digit joint development in fibrodysplasia ossificans progressiva (FOP).
An endothelial activin A-bone morphogenetic protein receptor type 2 link is overdriven in pulmonary hypertension.
Title: An endothelial activin A-bone morphogenetic protein receptor type 2 link is overdriven in pulmonary hypertension.
Activin A forms a non-signaling complex with ACVR1 and type II Activin/BMP receptors via its finger 2 tip loop.
Title: Activin A forms a non-signaling complex with ACVR1 and type II Activin/BMP receptors via its finger 2 tip loop.

Submit: New GeneRIF Correction See all GeneRIFs (63)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (3)
Targeted (12) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PMC202382P1 (e-PCR)
- UniSTS:271888

Acvr1 (e-PCR), detects polymorphism
- UniSTS:480330

BF401349 (e-PCR)
- UniSTS:245464

Acvr1 (e-PCR), detects polymorphism
- UniSTS:233950

Acvr1 (e-PCR), detects polymorphism
- UniSTS:496628

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP binding	ISO Inferred from Sequence Orthology more info
enables BMP receptor activity	IEA Inferred from Electronic Annotation more info
enables BMP receptor activity	ISO Inferred from Sequence Orthology more info
enables SMAD binding	IBA Inferred from Biological aspect of Ancestor more info
enables SMAD binding	IEA Inferred from Electronic Annotation more info
enables SMAD binding	ISO Inferred from Sequence Orthology more info
enables activin binding	IPI Inferred from Physical Interaction more info	PubMed
enables activin binding	ISO Inferred from Sequence Orthology more info
enables activin receptor activity, type I	IDA Inferred from Direct Assay more info	PubMed
contributes_to activin receptor activity, type I	ISO Inferred from Sequence Orthology more info
enables activin receptor activity, type I	ISO Inferred from Sequence Orthology more info
enables activin receptor activity, type II	IEA Inferred from Electronic Annotation more info
enables cadherin binding	IEA Inferred from Electronic Annotation more info
enables cadherin binding	ISO Inferred from Sequence Orthology more info
enables growth factor binding	IDA Inferred from Direct Assay more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IEA Inferred from Electronic Annotation more info
enables protein homodimerization activity	ISO Inferred from Sequence Orthology more info
enables protein kinase activity	ISO Inferred from Sequence Orthology more info
enables protein serine/threonine kinase activity	ISO Inferred from Sequence Orthology more info
enables protein tyrosine kinase binding	IEA Inferred from Electronic Annotation more info
enables protein tyrosine kinase binding	ISO Inferred from Sequence Orthology more info
enables transforming growth factor beta binding	IDA Inferred from Direct Assay more info	PubMed
enables transforming growth factor beta binding	ISO Inferred from Sequence Orthology more info
enables transforming growth factor beta receptor activity, type I	IBA Inferred from Biological aspect of Ancestor more info
enables transforming growth factor beta receptor activity, type I	IDA Inferred from Direct Assay more info	PubMed
enables transforming growth factor beta receptor activity, type II	IEA Inferred from Electronic Annotation more info
enables transforming growth factor beta receptor activity, type III	IEA Inferred from Electronic Annotation more info
enables transmembrane receptor protein serine/threonine kinase activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in BMP signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in BMP signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in BMP signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in activin receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in activin receptor signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in acute inflammatory response	IEP Inferred from Expression Pattern more info	PubMed
involved_in atrial septum primum morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in atrial septum primum morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in atrioventricular valve morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within branching involved in blood vessel morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cardiac muscle cell fate commitment	IEA Inferred from Electronic Annotation more info
involved_in cardiac muscle cell fate commitment	ISO Inferred from Sequence Orthology more info
involved_in cell differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in cellular response to BMP stimulus	ISO Inferred from Sequence Orthology more info
involved_in cellular response to growth factor stimulus	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within determination of left/right symmetry	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in dorsal/ventral pattern formation	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within embryo development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in embryonic heart tube morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in embryonic heart tube morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in endocardial cushion cell fate commitment	IEA Inferred from Electronic Annotation more info
involved_in endocardial cushion cell fate commitment	ISO Inferred from Sequence Orthology more info
involved_in endocardial cushion formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in endocardial cushion fusion	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within gastrulation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within gastrulation with mouth forming second	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within germ cell development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in heart development	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within heart development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within in utero embryonic development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within mesoderm development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within mesoderm formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitral valve morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in mitral valve morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of G1/S transition of mitotic cell cycle	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of G1/S transition of mitotic cell cycle	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of activin receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of activin receptor signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of extrinsic apoptotic signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of extrinsic apoptotic signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of signal transduction	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within neural crest cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
NOT involved_in outflow tract septum morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within pharyngeal system development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of SMAD protein signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of SMAD protein signal transduction	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of bone mineralization	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of bone mineralization	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cardiac epithelial to mesenchymal transition	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cell migration	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cell migration	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of determination of dorsal identity	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of determination of dorsal identity	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of osteoblast differentiation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of osteoblast differentiation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of peptidyl-tyrosine phosphorylation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of peptidyl-tyrosine phosphorylation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in regulation of ossification	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within smooth muscle cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in transforming growth factor beta receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within transforming growth factor beta receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in transforming growth factor beta receptor signaling pathway	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within transforming growth factor beta receptor signaling pathway	TAS Traceable Author Statement more info	PubMed
acts_upstream_of_or_within urogenital system development	ISO Inferred from Sequence Orthology more info
involved_in ventricular septum morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of BMP receptor complex	IBA Inferred from Biological aspect of Ancestor more info
part_of activin receptor complex	IEA Inferred from Electronic Annotation more info
part_of activin receptor complex	ISO Inferred from Sequence Orthology more info
located_in apical part of cell	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: activin receptor type-1

Names: TGF-B superfamily receptor type I; TSK-7L; TSR-I; activin receptor type I; serine/threonine-protein kinase receptor R1

NP_001103674.1

EC 2.7.11.30

NP_001103675.1

EC 2.7.11.30

NP_001341977.1

EC 2.7.11.30

NP_001341978.1

EC 2.7.11.30

NP_031420.2

EC 2.7.11.30

XP_006497685.1

EC 2.7.11.30

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001110204.1 → NP_001103674.1 activin receptor type-1 precursor

See identical proteins and their annotated locations for NP_001103674.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript. All five variants encode the same protein.

Source sequence(s)

AK053428, AK150014, BC058718, BQ030975

Consensus CDS

CCDS16050.1

UniProtKB/Swiss-Prot

P37172, Q3UDH5, Q91VF1

UniProtKB/TrEMBL

Q8C7A7

Related

ENSMUSP00000088453.3, ENSMUST00000090935.9

Conserved Domains (3) summary

cd14142
Location:202 → 499

STKc_ACVR1_ALK1; Catalytic domain of the Serine/Threonine Kinases, Activin Type I Receptor and Activin receptor-Like Kinase 1

pfam01064
Location:33 → 103

Activin_recp; Activin types I and II receptor domain

pfam08515
Location:179 → 206

TGF_beta_GS; Transforming growth factor beta type I GS-motif
NM_001110205.1 → NP_001103675.1 activin receptor type-1 precursor

See identical proteins and their annotated locations for NP_001103675.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. All five variants encode the same protein.

Source sequence(s)

BC058718, BQ030975, L15436

Consensus CDS

CCDS16050.1

UniProtKB/Swiss-Prot

P37172, Q3UDH5, Q91VF1

UniProtKB/TrEMBL

Q8C7A7

Related

ENSMUSP00000056784.6, ENSMUST00000056376.12

Conserved Domains (3) summary

cd14142
Location:202 → 499

STKc_ACVR1_ALK1; Catalytic domain of the Serine/Threonine Kinases, Activin Type I Receptor and Activin receptor-Like Kinase 1

pfam01064
Location:33 → 103

Activin_recp; Activin types I and II receptor domain

pfam08515
Location:179 → 206

TGF_beta_GS; Transforming growth factor beta type I GS-motif
NM_001355048.1 → NP_001341977.1 activin receptor type-1 precursor

Status: VALIDATED

Description

Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. All five variants encode the same protein.

Source sequence(s)

AL732468, AL807788

Consensus CDS

CCDS16050.1

UniProtKB/Swiss-Prot

P37172, Q3UDH5, Q91VF1

UniProtKB/TrEMBL

Q8C7A7

Conserved Domains (3) summary

cd14142
Location:202 → 499

STKc_ACVR1_ALK1; Catalytic domain of the Serine/Threonine Kinases, Activin Type I Receptor and Activin receptor-Like Kinase 1

pfam01064
Location:33 → 103

Activin_recp; Activin types I and II receptor domain

pfam08515
Location:179 → 206

TGF_beta_GS; Transforming growth factor beta type I GS-motif
NM_001355049.1 → NP_001341978.1 activin receptor type-1 precursor

Status: VALIDATED

Description

Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1. All five variants encode the same protein.

Source sequence(s)

AL732468, AL807788

Consensus CDS

CCDS16050.1

UniProtKB/Swiss-Prot

P37172, Q3UDH5, Q91VF1

UniProtKB/TrEMBL

Q8C7A7

Conserved Domains (3) summary

cd14142
Location:202 → 499

STKc_ACVR1_ALK1; Catalytic domain of the Serine/Threonine Kinases, Activin Type I Receptor and Activin receptor-Like Kinase 1

pfam01064
Location:33 → 103

Activin_recp; Activin types I and II receptor domain

pfam08515
Location:179 → 206

TGF_beta_GS; Transforming growth factor beta type I GS-motif
NM_007394.3 → NP_031420.2 activin receptor type-1 precursor

See identical proteins and their annotated locations for NP_031420.2

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. All five variants encode the same protein.

Source sequence(s)

AK150014, BC058718, BQ030975

Consensus CDS

CCDS16050.1

UniProtKB/Swiss-Prot

P37172, Q3UDH5, Q91VF1

UniProtKB/TrEMBL

Q8C7A7

Related

ENSMUSP00000108220.3, ENSMUST00000112601.9

Conserved Domains (3) summary

cd14142
Location:202 → 499

STKc_ACVR1_ALK1; Catalytic domain of the Serine/Threonine Kinases, Activin Type I Receptor and Activin receptor-Like Kinase 1

pfam01064
Location:33 → 103

Activin_recp; Activin types I and II receptor domain

pfam08515
Location:179 → 206

TGF_beta_GS; Transforming growth factor beta type I GS-motif

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000068.8 Reference GRCm39 C57BL/6J

Range

58336450..58456840 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006497622.5 → XP_006497685.1 activin receptor type-1 isoform X1

See identical proteins and their annotated locations for XP_006497685.1

UniProtKB/Swiss-Prot

P37172, Q3UDH5, Q91VF1

UniProtKB/TrEMBL

Q8C7A7

Conserved Domains (3) summary

cd14142
Location:202 → 499

STKc_ACVR1_ALK1; Catalytic domain of the Serine/Threonine Kinases, Activin Type I Receptor and Activin receptor-Like Kinase 1

pfam01064
Location:33 → 103

Activin_recp; Activin types I and II receptor domain

pfam08515
Location:179 → 206

TGF_beta_GS; Transforming growth factor beta type I GS-motif