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 AllianceGenome:MGI:1338946
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: Alk1; Acvrlk1
Summary: Predicted to enable several functions, including ATP binding activity; activin binding activity; and transmembrane receptor protein serine/threonine kinase activity. Involved in several processes, including regulation of endothelial cell differentiation; regulation of endothelial cell proliferation; and vasculature development. Acts upstream of or within several processes, including angiogenesis; positive regulation of angiogenesis; and transmembrane receptor protein serine/threonine kinase signaling pathway. Predicted to be located in cell surface; dendrite; and neuronal cell body. Predicted to be integral component of plasma membrane. Predicted to be part of BMP receptor complex. Predicted to be active in plasma membrane. Is expressed in several structures, including alimentary system; central nervous system; eye; genitourinary system; and immune system. Used to study arteriovenous malformations of the brain and hereditary hemorrhagic telangiectasia. Human ortholog(s) of this gene implicated in hereditary hemorrhagic telangiectasia and pulmonary hypertension. Orthologous to human ACVRL1 (activin A receptor like type 1). [provided by Alliance of Genome Resources, Apr 2022]
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
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Genomic context

Location:: 15; 15 F1

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2023_04	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)

Chromosome 15 - NC_000081.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

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?

ALK1 controls hepatic vessel formation, angiodiversity, and angiocrine functions in hereditary hemorrhagic telangiectasia of the liver.
Title: ALK1 controls hepatic vessel formation, angiodiversity, and angiocrine functions in hereditary hemorrhagic telangiectasia of the liver.
Bone Marrow-Derived Alk1 Mutant Endothelial Cells and Clonally Expanded Somatic Alk1 Mutant Endothelial Cells Contribute to the Development of Brain Arteriovenous Malformations in Mice.
Title: Bone Marrow-Derived Alk1 Mutant Endothelial Cells and Clonally Expanded Somatic Alk1 Mutant Endothelial Cells Contribute to the Development of Brain Arteriovenous Malformations in Mice.
ALK1 signaling is required for the homeostasis of Kupffer cells and prevention of bacterial infection.
Title: ALK1 signaling is required for the homeostasis of Kupffer cells and prevention of bacterial infection.
OTULIN allies with LUBAC to govern angiogenesis by editing ALK1 linear polyubiquitin.
Title: OTULIN allies with LUBAC to govern angiogenesis by editing ALK1 linear polyubiquitin.
Overexpression of Activin Receptor-Like Kinase 1 in Endothelial Cells Suppresses Development of Arteriovenous Malformations in Mouse Models of Hereditary Hemorrhagic Telangiectasia.
Title: Overexpression of Activin Receptor-Like Kinase 1 in Endothelial Cells Suppresses Development of Arteriovenous Malformations in Mouse Models of Hereditary Hemorrhagic Telangiectasia.
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.

Submit: New GeneRIF Correction See all GeneRIFs (53)

Variation

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Alleles

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

Targeted (7) 1 citation
Endonuclease-mediated (3)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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

Gene Ontology Provided by MGI

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

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

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

General protein information

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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)

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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_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, Q91YR0

Related

ENSMUSP00000113505.2, ENSMUST00000117984.8

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, Q91YR0

Related

ENSMUSP00000113536.2, ENSMUST00000119063.8

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, Q91YR0

Related

ENSMUSP00000113297.2, ENSMUST00000120028.8

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, Q91YR0

Related

ENSMUSP00000000542.8, ENSMUST00000000542.14

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 ...