Acvrl1 activin A receptor like type 1 [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Acvrl1provided by RGD
Official Full Name: activin A receptor like type 1provided by RGD
Primary source: RGD:2029
See related: Ensembl:ENSRNOG00000028713 AllianceGenome:RGD:2029
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Also known as: R3; R-3; Alk1; SETHKIR
Summary: Predicted to enable several functions, including ATP binding activity; activin binding activity; and transmembrane receptor protein serine/threonine kinase activity. Involved in response to hypoxia. Located in cell surface; dendrite; and neuronal cell body. Biomarker of pulmonary hypertension and transient cerebral ischemia. 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 (RPKM 529.2), Heart (RPKM 83.6) and 6 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: 7q36

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	7	NC_086025.1 (134117917..134135306)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	7	NC_051342.1 (132239200..132256592)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	7	NC_005106.4 (142769942..142787336)

Chromosome 7 - NC_086025.1 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: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

These results provided clear evidence that miR98 was a direct regulator of ALK1, and that the downregulation of miR98 contributed to the pathogenesis of hypoxic pulmonary hypertension.
Title: Downregulation of miR‑98 contributes to hypoxic pulmonary hypertension by targeting ALK1.
Oatp1a4 transport activity at the BBB is directly regulated by TGF-beta/ALK1 signaling.
Title: Functional Expression of Organic Anion Transporting Polypeptide 1a4 Is Regulated by Transforming Growth Factor-β/Activin Receptor-like Kinase 1 Signaling at the Blood-Brain Barrier.
Increased expression of ALK-1 in the pulmonary vasculature of congenital diaphragmatic hernia (CDH) suggest that ALK-1 may play a crucial role in the molecular pathogenesis of vascular remodeling in CDH.
Title: The Role of Activin Receptor-Like Kinase 1 Signaling in the Pulmonary Vasculature of Experimental Diaphragmatic Hernia.
Overexpression of Alk-5 and silencing of Alk-1 led to a loss of the chondrocyte phenotype, proving that they are key regulators of chondrocyte mechanosensing.
Title: The role of Alk-1 and Alk-5 in the mechanosensing of chondrocytes.
ALK-1, an orphan receptor in the TGF-beta family, is a potential receptor for BMP-9
Title: Crystal structure of BMP-9 and functional interactions with pro-region and receptors.

Submit: New GeneRIF Correction

General gene information

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Markers

RH133448 (e-PCR)
- UniSTS:216731

BE100434 (e-PCR)
- UniSTS:249812

Gene Ontology Provided by RGD

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 BMP receptor activity	ISS Inferred from Sequence or Structural Similarity more info
enables SMAD binding	IBA Inferred from Biological aspect of Ancestor more info
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 metal ion binding	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 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
enables transforming growth factor beta receptor activity, type I	ISO Inferred from Sequence Orthology more info
enables transmembrane receptor protein serine/threonine kinase activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in BMP signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within BMP signaling pathway	ISO Inferred from Sequence Orthology more info
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 angiogenesis	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within angiogenesis	ISO Inferred from Sequence Orthology more info
involved_in angiogenesis	ISO Inferred from Sequence Orthology more info
involved_in artery development	ISO Inferred from Sequence Orthology more info
involved_in blood circulation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within blood vessel morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in blood vessel remodeling	ISO Inferred from Sequence Orthology 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
involved_in cellular response to transforming growth factor beta stimulus	ISO Inferred from Sequence Orthology more info
involved_in dorsal aorta morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in dorsal/ventral pattern formation	IBA Inferred from Biological aspect of Ancestor more info
involved_in endocardial cushion morphogenesis	ISO Inferred from Sequence Orthology more info
NOT involved_in endocardial cushion to mesenchymal transition	ISO Inferred from Sequence Orthology more info
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
acts_upstream_of_or_within in utero embryonic development	ISO Inferred from Sequence Orthology more info
involved_in lymphangiogenesis	ISO Inferred from Sequence Orthology more info
involved_in lymphatic endothelial cell differentiation	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	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of endothelial cell migration	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of endothelial cell proliferation	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of focal adhesion assembly	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of gene expression	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of BMP signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
acts_upstream_of positive regulation of Notch signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of SMAD protein signal transduction	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of angiogenesis	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of bicellular tight junction assembly	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of endothelial cell differentiation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of endothelial cell proliferation	ISO Inferred from Sequence Orthology more info
acts_upstream_of positive regulation of epithelial cell differentiation	ISO Inferred from Sequence Orthology more info
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
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 response to hypoxia	IEP Inferred from Expression Pattern more info	PubMed
involved_in retina vasculature development in camera-type eye	ISO Inferred from Sequence Orthology more info
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
acts_upstream_of_or_within transforming growth factor beta receptor signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in transforming growth factor beta receptor signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in venous blood vessel development	ISO Inferred from Sequence Orthology more info
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
located_in cell surface	IDA Inferred from Direct Assay more info	PubMed
located_in cell surface	ISO Inferred from Sequence Orthology more info
located_in dendrite	IDA Inferred from Direct Assay more info	PubMed
located_in neuronal cell body	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	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: serine/threonine-protein kinase receptor R3

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

NP_071886.1

EC 2.7.11.30

XP_006242365.1

EC 2.7.11.30

XP_038934369.1

EC 2.7.11.30

XP_038934371.1

EC 2.7.11.30

XP_038934372.1

EC 2.7.11.30

XP_038934373.1

EC 2.7.11.30

XP_038934374.1

EC 2.7.11.30

XP_038934375.1

EC 2.7.11.30

XP_038934376.1

EC 2.7.11.30

XP_038934377.1

EC 2.7.11.30

XP_063119078.1

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_022441.2 → NP_071886.1 serine/threonine-protein kinase receptor R3 precursor

See identical proteins and their annotated locations for NP_071886.1

Status: PROVISIONAL

Source sequence(s)

BC083173

UniProtKB/Swiss-Prot

P80203, Q63559

UniProtKB/TrEMBL

A6KCM9, A6KCN1

Conserved Domains (2) summary

cd14142
Location:197 → 494

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

pfam08515
Location:174 → 201

TGF_beta_GS; Transforming growth factor beta type I GS-motif

RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

Reference GRCr8

Genomic

NC_086025.1 Reference GRCr8

Range

134117917..134135306

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006242303.3 → XP_006242365.1 serine/threonine-protein kinase receptor R3 isoform X1

See identical proteins and their annotated locations for XP_006242365.1

UniProtKB/Swiss-Prot

P80203, Q63559

UniProtKB/TrEMBL

A6KCM9, A6KCN1

Related

ENSRNOP00000008673.3, ENSRNOT00000008673.5

Conserved Domains (2) summary

cd14142
Location:197 → 494

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

pfam08515
Location:174 → 201

TGF_beta_GS; Transforming growth factor beta type I GS-motif
XM_039078443.2 → XP_038934371.1 serine/threonine-protein kinase receptor R3 isoform X1

UniProtKB/Swiss-Prot

P80203, Q63559

UniProtKB/TrEMBL

A6KCM9, A6KCN1

Conserved Domains (2) summary

cd14142
Location:197 → 494

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

pfam08515
Location:174 → 201

TGF_beta_GS; Transforming growth factor beta type I GS-motif
XM_039078444.2 → XP_038934372.1 serine/threonine-protein kinase receptor R3 isoform X1

UniProtKB/Swiss-Prot

P80203, Q63559

UniProtKB/TrEMBL

A6KCM9, A6KCN1

Conserved Domains (2) summary

cd14142
Location:197 → 494

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

pfam08515
Location:174 → 201

TGF_beta_GS; Transforming growth factor beta type I GS-motif
XM_039078441.1 → XP_038934369.1 serine/threonine-protein kinase receptor R3 isoform X1

UniProtKB/Swiss-Prot

P80203, Q63559

UniProtKB/TrEMBL

A6KCM9, A6KCN1

Conserved Domains (2) summary

cd14142
Location:197 → 494

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

pfam08515
Location:174 → 201

TGF_beta_GS; Transforming growth factor beta type I GS-motif
XM_039078446.1 → XP_038934374.1 serine/threonine-protein kinase receptor R3 isoform X1

UniProtKB/Swiss-Prot

P80203, Q63559

UniProtKB/TrEMBL

A6KCM9, A6KCN1

Conserved Domains (2) summary

cd14142
Location:197 → 494

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

pfam08515
Location:174 → 201

TGF_beta_GS; Transforming growth factor beta type I GS-motif
XM_039078445.1 → XP_038934373.1 serine/threonine-protein kinase receptor R3 isoform X1

UniProtKB/Swiss-Prot

P80203, Q63559

UniProtKB/TrEMBL

A6KCM9, A6KCN1

Conserved Domains (2) summary

cd14142
Location:197 → 494

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

pfam08515
Location:174 → 201

TGF_beta_GS; Transforming growth factor beta type I GS-motif
XM_039078448.1 → XP_038934376.1 serine/threonine-protein kinase receptor R3 isoform X1

UniProtKB/Swiss-Prot

P80203, Q63559

UniProtKB/TrEMBL

A6KCM9, A6KCN1

Conserved Domains (2) summary

cd14142
Location:197 → 494

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

pfam08515
Location:174 → 201

TGF_beta_GS; Transforming growth factor beta type I GS-motif
XM_063263008.1 → XP_063119078.1 serine/threonine-protein kinase receptor R3 isoform X1

UniProtKB/Swiss-Prot

P80203, Q63559

UniProtKB/TrEMBL

A6KCN1
XM_039078447.2 → XP_038934375.1 serine/threonine-protein kinase receptor R3 isoform X1

UniProtKB/Swiss-Prot

P80203, Q63559

UniProtKB/TrEMBL

A6KCM9, A6KCN1

Conserved Domains (2) summary

cd14142
Location:197 → 494

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

pfam08515
Location:174 → 201

TGF_beta_GS; Transforming growth factor beta type I GS-motif
XM_039078449.2 → XP_038934377.1 serine/threonine-protein kinase receptor R3 isoform X2

Conserved Domains (2) summary

cd14142
Location:24 → 321

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

pfam08515
Location:1 → 28

TGF_beta_GS; Transforming growth factor beta type I GS-motif