Acvrl1 activin A receptor, type II-like 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Acvrl1provided by MGI
Official Full Name: activin A receptor, type II-like 1provided by MGI
Primary source: MGI:MGI:1338946
See related: Ensembl:ENSMUSG00000000530
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: Al; Acv; Alk; Alk1; Acvrlk1; AI115505; AI427544
Expression: Biased expression in lung adult (RPKM 194.2), subcutaneous fat pad adult (RPKM 18.5) and 5 other tissues See more
Orthologs: human all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 15; 15 F1

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
109	current	GRCm39 (GCF_000001635.27)	15	NC_000081.7 (101026403..101043217)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	15	NC_000081.6 (101128522..101145336)
Build 37.2	previous assembly	MGSCv37 (GCF_000001635.18)	15	NC_000081.5 (100958968..100975767)

Chromosome 15 - NC_000081.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Alk1 haploinsufficiency causes glomerular dysfunction and microalbuminuria in diabetic mice.
Title: Alk1 haploinsufficiency causes glomerular dysfunction and microalbuminuria in diabetic mice.
The ALK-1/SMAD/ATOH8 axis attenuates hypoxic responses and protects against the development of pulmonary arterial hypertension.
Title: The ALK-1/SMAD/ATOH8 axis attenuates hypoxic responses and protects against the development of pulmonary arterial hypertension.
Loss of ALK1 function in endothelial cells results in increased activity of the PI3K pathway and vascular hyperplasia.
Title: ALK1 Loss Results in Vascular Hyperplasia in Mice and Humans Through PI3K Activation.
our data show that in a tumor environment BMP9 and BMP10 play different roles and thus blocking their shared receptor ALK1 is maybe not appropriate. Indeed, BMP9, but not BMP10, acts as a quiescence factor on tumor growth, lung metastasis and vessel normalization.
Title: BMP9, but not BMP10, acts as a quiescence factor on tumor growth, vessel normalization and metastasis in a mouse model of breast cancer.
These studies identified pathways mediating LDLR-independent uptake of LDL may provide unique opportunities to block the initiation of LDL accumulation in the vessel wall or augment hepatic LDLR-dependent clearance of LDL.
Title: Genome-wide RNAi screen reveals ALK1 mediates LDL uptake and transcytosis in endothelial cells.
We have identified a novel role for ALK1 in cardiac remodeling
Title: Reduced activin receptor-like kinase 1 activity promotes cardiac fibrosis in heart failure.
Data show that concomitant activin receptor-like kinase 1 (Acvrl1) and endoglin (Eng) deficiency synergistically decreases pancreatic neuroendocrine tumor volume.
Title: Compound genetically engineered mouse models of cancer reveal dual targeting of ALK1 and endoglin as a synergistic opportunity to impinge on angiogenic TGF-β signaling.
Global deletion of AlK-1 is associated with the development of high output heart failure without maladaptive remodeling.
Title: Conditional knockout of activin like kinase-1 (ALK-1) leads to heart failure without maladaptive remodeling.
These data indicate that both Itgb8 and Alk1 are important in maintaining normal cerebral angiogenesis in response to VEGF. Itgb8 deficiency enhances the formation of dysplastic vessels and hemorrhage in Alk1 (+/-) mice.
Title: Integrin β8 Deletion Enhances Vascular Dysplasia and Hemorrhage in the Brain of Adult Alk1 Heterozygous Mice.
these studies characterize an accessory TGF-beta-stimulated BMP R-Smad signaling mechanism in interstitial cells of the developing lung.
Title: Transforming growth factor-β stimulates Smad1/5 signaling in pulmonary artery smooth muscle cells and fibroblasts of the newborn mouse through ALK1.

Submit: New GeneRIF Correction See all GeneRIFs (48)

Variation

Go to the top of the page Help

Alleles

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

Targeted (7) 1 citation

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

Acvrl1 (e-PCR), detects polymorphism
- UniSTS:480333

AI427544 (e-PCR)
- UniSTS:180837

Acvrl1 (e-PCR), detects polymorphism
- UniSTS:496037

NoName (e-PCR)
- UniSTS:548529

NoName (e-PCR)
- UniSTS:548530

RH135875 (e-PCR)
- UniSTS:209873

Acvrl1 (e-PCR), detects polymorphism
- UniSTS:496633

Homology

Homologs of the Acvrl1 gene: The Acvrl1 gene is conserved in human, chimpanzee, Rhesus monkey, dog, cow, rat, chicken, zebrafish, and frog.
Orthologs from Annotation Pipeline: 247 organisms have orthologs with human gene Acvrl1
Orthologs

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
ATP binding	ISO Inferred from Sequence Orthology more info
BMP receptor activity	ISO Inferred from Sequence Orthology more info
SMAD binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
SMAD binding	ISO Inferred from Sequence Orthology more info
activin binding	ISO Inferred from Sequence Orthology more info
activin receptor activity, type I	ISO Inferred from Sequence Orthology more info
kinase activity	IEA Inferred from Electronic Annotation more info
metal ion binding	IEA Inferred from Electronic Annotation more info
nucleotide binding	IEA Inferred from Electronic Annotation more info
protein binding	IPI Inferred from Physical Interaction more info	PubMed
protein kinase activity	IEA Inferred from Electronic Annotation more info
protein kinase binding	ISO Inferred from Sequence Orthology more info
protein serine/threonine kinase activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
protein serine/threonine kinase activity	ISO Inferred from Sequence Orthology more info
transferase activity	IEA Inferred from Electronic Annotation more info
transforming growth factor beta binding	ISO Inferred from Sequence Orthology more info
transforming growth factor beta receptor activity, type I	IBA Inferred from Biological aspect of Ancestor more info	PubMed
transforming growth factor beta receptor activity, type I	ISO Inferred from Sequence Orthology more info
transforming growth factor beta-activated receptor activity	ISO Inferred from Sequence Orthology more info
transmembrane receptor protein serine/threonine kinase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
BMP signaling pathway	IBA Inferred from Biological aspect of Ancestor more info	PubMed
BMP signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
BMP signaling pathway	ISO Inferred from Sequence Orthology more info
angiogenesis	IBA Inferred from Biological aspect of Ancestor more info	PubMed
angiogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
angiogenesis	ISO Inferred from Sequence Orthology more info
artery development	IMP Inferred from Mutant Phenotype more info	PubMed
blood circulation	ISO Inferred from Sequence Orthology more info
blood vessel morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
blood vessel remodeling	IMP Inferred from Mutant Phenotype more info	PubMed
cellular response to BMP stimulus	ISO Inferred from Sequence Orthology more info
cellular response to growth factor stimulus	IBA Inferred from Biological aspect of Ancestor more info	PubMed
cellular response to transforming growth factor beta stimulus	IDA Inferred from Direct Assay more info	PubMed
cellular response to transforming growth factor beta stimulus	ISO Inferred from Sequence Orthology more info
dorsal aorta morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
dorsal/ventral pattern formation	IBA Inferred from Biological aspect of Ancestor more info	PubMed
endocardial cushion morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
NOT endocardial cushion to mesenchymal transition	IMP Inferred from Mutant Phenotype more info	PubMed
endothelial cell activation	TAS Traceable Author Statement more info	PubMed
endothelial tube morphogenesis	ISO Inferred from Sequence Orthology more info
heart development	IBA Inferred from Biological aspect of Ancestor more info	PubMed
in utero embryonic development	IMP Inferred from Mutant Phenotype more info	PubMed
lymphangiogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
lymphatic endothelial cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
lymphatic endothelial cell differentiation	ISO Inferred from Sequence Orthology more info
negative regulation of DNA biosynthetic process	ISO Inferred from Sequence Orthology more info
negative regulation of blood vessel endothelial cell migration	ISO Inferred from Sequence Orthology more info
negative regulation of cell adhesion	ISO Inferred from Sequence Orthology more info
negative regulation of cell growth	ISO Inferred from Sequence Orthology more info
negative regulation of cell migration	ISO Inferred from Sequence Orthology more info
negative regulation of cell population proliferation	ISO Inferred from Sequence Orthology more info
negative regulation of endothelial cell differentiation	IDA Inferred from Direct Assay more info	PubMed
negative regulation of endothelial cell migration	ISO Inferred from Sequence Orthology more info
negative regulation of endothelial cell proliferation	IDA Inferred from Direct Assay more info	PubMed
negative regulation of focal adhesion assembly	ISO Inferred from Sequence Orthology more info
negative regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
phosphorylation	IEA Inferred from Electronic Annotation more info
positive regulation of BMP signaling pathway	IDA Inferred from Direct Assay more info	PubMed
positive regulation of BMP signaling pathway	ISO Inferred from Sequence Orthology more info
positive regulation of angiogenesis	IGI Inferred from Genetic Interaction more info	PubMed
positive regulation of endothelial cell differentiation	IDA Inferred from Direct Assay more info	PubMed
positive regulation of endothelial cell proliferation	IDA Inferred from Direct Assay more info	PubMed
positive regulation of pathway-restricted SMAD protein phosphorylation	ISO Inferred from Sequence Orthology more info
positive regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
positive regulation of transcription, DNA-templated	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of transcription, DNA-templated	ISO Inferred from Sequence Orthology more info
protein phosphorylation	IBA Inferred from Biological aspect of Ancestor more info	PubMed
protein phosphorylation	ISO Inferred from Sequence Orthology more info
regulation of blood pressure	ISO Inferred from Sequence Orthology more info
regulation of transcription, DNA-templated	ISO Inferred from Sequence Orthology more info
retina vasculature development in camera-type eye	IMP Inferred from Mutant Phenotype more info	PubMed
signal transduction	ISO Inferred from Sequence Orthology more info
transforming growth factor beta receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info	PubMed
transforming growth factor beta receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
transforming growth factor beta receptor signaling pathway	ISO Inferred from Sequence Orthology more info
transmembrane receptor protein serine/threonine kinase signaling pathway	IEA Inferred from Electronic Annotation more info
venous blood vessel development	IMP Inferred from Mutant Phenotype more info	PubMed
wound healing, spreading of epidermal cells	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
BMP receptor complex	IBA Inferred from Biological aspect of Ancestor more info	PubMed
cell surface	ISO Inferred from Sequence Orthology more info
dendrite	ISO Inferred from Sequence Orthology more info
integral component of membrane	IEA Inferred from Electronic Annotation more info
integral component of plasma membrane	ISO Inferred from Sequence Orthology more info
membrane	IEA Inferred from Electronic Annotation more info
neuronal cell body	ISO Inferred from Sequence Orthology more info
plasma membrane	IBA Inferred from Biological aspect of Ancestor more info	PubMed
plasma membrane	ISO Inferred from Sequence Orthology more info
receptor complex	IBA Inferred from Biological aspect of Ancestor more info	PubMed

General protein information

Go to the top of the page Help

Preferred Names: serine/threonine-protein kinase receptor R3

Names: SKR3; TGF-B superfamily receptor type I; TSR-I; activin receptor-like kinase 1

NP_001264184.1

EC 2.7.11.30

NP_001264186.1

EC 2.7.11.30

NP_001264187.1

EC 2.7.11.30

NP_001264188.1

EC 2.7.11.30

NP_033742.2

EC 2.7.11.30

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_001277255.1 → NP_001264184.1 serine/threonine-protein kinase receptor R3 isoform b

See identical proteins and their annotated locations for NP_001264184.1

Status: VALIDATED

Description

Transcript Variant: This variant (5) differs in the 5' UTR and coding sequence and uses an upstream in-frame AUG translation start codon compared to variant 1. The resulting isoform (b) is longer at the N-terminus compared to isoform a.

Source sequence(s)

AC104834, AK134712, BB869400

Conserved Domains (4) summary

cd14142
Location:210 → 507

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

pfam07714
Location:216 → 503

Pkinase_Tyr; Protein tyrosine kinase

pfam08515
Location:187 → 214

TGF_beta_GS; Transforming growth factor beta type I GS-motif

cl10471
Location:48 → 112

LU; Ly-6 antigen / uPA receptor -like domain; occurs singly in GPI-linked cell-surface glycoproteins (Ly-6 family,CD59, thymocyte B cell antigen, Sgp-2) or as three-fold repeated domain in urokinase-type plasminogen activator receptor. Topology of these ...
NM_001277257.1 → NP_001264186.1 serine/threonine-protein kinase receptor R3 isoform a precursor

See identical proteins and their annotated locations for NP_001264186.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3, and 4 all encode the same isoform (a).

Source sequence(s)

AC104834, AK134712, BB869400

Consensus CDS

CCDS37215.1

UniProtKB/Swiss-Prot

Q61288

Related

ENSMUSP00000113505.1, ENSMUST00000117984.7

Conserved Domains (4) summary

cd14142
Location:195 → 492

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

pfam07714
Location:201 → 488

Pkinase_Tyr; Protein tyrosine kinase

pfam08515
Location:172 → 199

TGF_beta_GS; Transforming growth factor beta type I GS-motif

cl10471
Location:33 → 97

LU; Ly-6 antigen / uPA receptor -like domain; occurs singly in GPI-linked cell-surface glycoproteins (Ly-6 family,CD59, thymocyte B cell antigen, Sgp-2) or as three-fold repeated domain in urokinase-type plasminogen activator receptor. Topology of these ...
NM_001277258.1 → NP_001264187.1 serine/threonine-protein kinase receptor R3 isoform a precursor

See identical proteins and their annotated locations for NP_001264187.1

Status: VALIDATED

Description

Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3, and 4 all encode the same isoform (a).

Source sequence(s)

AC104834, AK134712, AK160915

Consensus CDS

CCDS37215.1

UniProtKB/Swiss-Prot

Q61288

Related

ENSMUSP00000113536.1, ENSMUST00000119063.7

Conserved Domains (4) summary

cd14142
Location:195 → 492

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

pfam07714
Location:201 → 488

Pkinase_Tyr; Protein tyrosine kinase

pfam08515
Location:172 → 199

TGF_beta_GS; Transforming growth factor beta type I GS-motif

cl10471
Location:33 → 97

LU; Ly-6 antigen / uPA receptor -like domain; occurs singly in GPI-linked cell-surface glycoproteins (Ly-6 family,CD59, thymocyte B cell antigen, Sgp-2) or as three-fold repeated domain in urokinase-type plasminogen activator receptor. Topology of these ...
NM_001277259.1 → NP_001264188.1 serine/threonine-protein kinase receptor R3 isoform a precursor

See identical proteins and their annotated locations for NP_001264188.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3, and 4 all encode the same isoform (a).

Source sequence(s)

AC104834, AK134712, AK160915

Consensus CDS

CCDS37215.1

UniProtKB/Swiss-Prot

Q61288

Related

ENSMUSP00000113297.1, ENSMUST00000120028.7

Conserved Domains (4) summary

cd14142
Location:195 → 492

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

pfam07714
Location:201 → 488

Pkinase_Tyr; Protein tyrosine kinase

pfam08515
Location:172 → 199

TGF_beta_GS; Transforming growth factor beta type I GS-motif

cl10471
Location:33 → 97

LU; Ly-6 antigen / uPA receptor -like domain; occurs singly in GPI-linked cell-surface glycoproteins (Ly-6 family,CD59, thymocyte B cell antigen, Sgp-2) or as three-fold repeated domain in urokinase-type plasminogen activator receptor. Topology of these ...
NM_009612.3 → NP_033742.2 serine/threonine-protein kinase receptor R3 isoform a precursor

See identical proteins and their annotated locations for NP_033742.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the predominant isoform (a). Variants 1, 2, 3, and 4 all encode the same isoform (a).

Source sequence(s)

AC104834, AK134712, BB869983

Consensus CDS

CCDS37215.1

UniProtKB/Swiss-Prot

Q61288

Related

ENSMUSP00000000542.7, ENSMUST00000000542.13

Conserved Domains (4) summary

cd14142
Location:195 → 492

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

pfam07714
Location:201 → 488

Pkinase_Tyr; Protein tyrosine kinase

pfam08515
Location:172 → 199

TGF_beta_GS; Transforming growth factor beta type I GS-motif

cl10471
Location:33 → 97

LU; Ly-6 antigen / uPA receptor -like domain; occurs singly in GPI-linked cell-surface glycoproteins (Ly-6 family,CD59, thymocyte B cell antigen, Sgp-2) or as three-fold repeated domain in urokinase-type plasminogen activator receptor. Topology of these ...