Acvr1b activin A receptor, type 1B [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Acvr1bprovided by MGI
Official Full Name: activin A receptor, type 1Bprovided by MGI
Primary source: MGI:MGI:1338944
See related: Ensembl:ENSMUSG00000000532 AllianceGenome:MGI:1338944
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: Alk4; SKR2; ALK-4; ActRIB; ActR-IB; Acvrlk4; 6820432J04
Summary: Enables activin binding activity and protein serine/threonine kinase activity. Involved in peptidyl-threonine phosphorylation. Acts upstream of or within several processes, including activin receptor signaling pathway; hair follicle development; and regulation of gene expression. Predicted to be located in cell surface and cytosol. Predicted to be part of activin receptor complex. Predicted to be active in plasma membrane. Is expressed in several structures, including alimentary system; central nervous system; egg cylinder; respiratory system; and sensory organ. Human ortholog(s) of this gene implicated in lung non-small cell carcinoma; lung small cell carcinoma; malignant mesothelioma; pancreatic cancer; and stomach cancer. Orthologous to human ACVR1B (activin A receptor type 1B). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in colon adult (RPKM 35.0), lung adult (RPKM 24.6) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 15 F1; 15 56.48 cM

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	15	NC_000081.7 (101071953..101111565)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	15	NC_000081.6 (101174072..101213684)

Chromosome 15 - NC_000081.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data 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?

Acvr1b Loss Increases Formation of Pancreatic Precancerous Lesions From Acinar and Ductal Cells of Origin.
Title: Acvr1b Loss Increases Formation of Pancreatic Precancerous Lesions From Acinar and Ductal Cells of Origin.
Partial inhibition of activin receptor-like kinase 4 alleviates bladder fibrosis caused by bladder outlet obstruction.
Title: Partial inhibition of activin receptor-like kinase 4 alleviates bladder fibrosis caused by bladder outlet obstruction.
Activin receptor-like kinase 4 haplodeficiency alleviates the cardiac inflammation and pacing-induced ventricular arrhythmias after myocardial infarction.
Title: Activin receptor-like kinase 4 haplodeficiency alleviates the cardiac inflammation and pacing-induced ventricular arrhythmias after myocardial infarction.
ALK4/5-dependent TGF-beta signaling contributes to the crosstalk between neurons and microglia following axonal lesion.
Title: ALK4/5-dependent TGF-β signaling contributes to the crosstalk between neurons and microglia following axonal lesion.
Results demonstrate that ALK 4 haplodeficiency ameliorates atrial remodeling and vulnerability to atrial fibrillation in a pressure-overload model through inactivation of the Smad2/3 pathway.
Title: Activin Receptor-Like Kinase 4 Haplodeficiency Mitigates Arrhythmogenic Atrial Remodeling and Vulnerability to Atrial Fibrillation in Cardiac Pathological Hypertrophy.
Our study provided experimental and clinical evidence for the involvement of activin A and ALK4 in the pathophysiology of atrial fibrosis and atrial fibrillation
Title: The crucial role of activin A/ALK4 pathway in the pathogenesis of Ang-II-induced atrial fibrosis and vulnerability to atrial fibrillation.
Our results demonstrate that ALK4 haploinsufficiency ameliorates cardiac fibrosis and dysfunction in a mouse pressure-overload model associated with inhibition of cardiac fibroblast activation and cardiomyocyte apoptosis through the suppression of Smad2/3 activity.
Title: Partial inhibition of activin receptor-like kinase 4 attenuates pressure overload-induced cardiac fibrosis and improves cardiac function.
ALK4 is an important profibrotic signaling molecule in the post-MI CF. Haplodeficiency of ALK4 significantly improved LV function and survival rate by attenuating CF in vivo, ameliorated
Title: Haplodeficiency of activin receptor-like kinase 4 alleviates myocardial infarction-induced cardiac fibrosis and preserves cardiac function.
Uterine Activin-Like Kinase 4 Regulates Trophoblast Development During Mouse Placentation
Title: Uterine Activin-Like Kinase 4 Regulates Trophoblast Development During Mouse Placentation.
These results indicate that an appropriate level of activin signaling may be required for GSIS in pancreatic beta cells, and that activin signaling involves modulation of KATP channel activity.
Title: Activation of activin type IB receptor signals in pancreatic β cells leads to defective insulin secretion through the attenuation of ATP-sensitive K+ channel activity.

Submit: New GeneRIF Correction See all GeneRIFs (20)

Variation

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Alleles

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

Endonuclease-mediated (2)
Targeted (9) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Acvr1b (e-PCR), detects polymorphism
- UniSTS:480331

NoName (e-PCR)
- UniSTS:224944

Acvr1b (e-PCR), detects polymorphism
- UniSTS:233951

UniSTS:496629 (e-PCR)
- UniSTS:496629

Acvr1b (e-PCR), detects polymorphism
- UniSTS:496629

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 I-SMAD binding	IEA Inferred from Electronic Annotation more info
enables I-SMAD binding	ISO Inferred from Sequence Orthology more info
enables SMAD binding	ISO Inferred from Sequence Orthology more info
enables activin binding	IBA Inferred from Biological aspect of Ancestor more info
enables activin binding	IPI Inferred from Physical Interaction more info	PubMed
contributes_to activin binding	ISO Inferred from Sequence Orthology more info
contributes_to activin receptor activity	ISO Inferred from Sequence Orthology more info
enables activin receptor activity	ISO Inferred from Sequence Orthology more info
enables activin receptor activity, type I	IBA Inferred from Biological aspect of Ancestor more info
enables activin receptor activity, type I	IEA Inferred from Electronic Annotation more info
enables activin receptor activity, type I	ISO Inferred from Sequence Orthology more info
enables growth factor binding	IEA Inferred from Electronic Annotation more info
contributes_to growth factor binding	ISO Inferred from Sequence Orthology more info
enables inhibin binding	IEA Inferred from Electronic Annotation more info
enables inhibin binding	ISO Inferred from Sequence Orthology more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein serine/threonine kinase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein serine/threonine kinase activity	ISO Inferred from Sequence Orthology more info
enables transforming growth factor beta receptor activity	IEA Inferred from Electronic Annotation more info
enables transmembrane receptor protein serine/threonine kinase activity	TAS Traceable Author Statement more info	PubMed
enables ubiquitin protein ligase binding	IEA Inferred from Electronic Annotation more info
enables ubiquitin protein ligase binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in G1/S transition of mitotic cell cycle	IEA Inferred from Electronic Annotation more info
involved_in G1/S transition of mitotic cell cycle	ISO Inferred from Sequence Orthology more info
involved_in activin receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within activin receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in activin receptor signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in cardiac fibroblast cell development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cell surface receptor signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in cellular response to growth factor stimulus	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 extrinsic apoptotic signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in extrinsic apoptotic signaling pathway	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within hair follicle 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	ISO Inferred from Sequence Orthology more info	PubMed
involved_in negative regulation of cell growth	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cell growth	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in nervous system development	IBA Inferred from Biological aspect of Ancestor more info
involved_in nodal signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in nodal signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in peptidyl-threonine phosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in peptidyl-threonine phosphorylation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of activin receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of activin receptor signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of collagen biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of erythrocyte differentiation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of erythrocyte differentiation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of gene expression	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 positive regulation of trophoblast cell migration	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of trophoblast cell migration	ISO Inferred from Sequence Orthology more info
involved_in protein autophosphorylation	IEA Inferred from Electronic Annotation more info
involved_in protein autophosphorylation	ISO Inferred from Sequence Orthology more info
involved_in regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation more info
involved_in regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in signal transduction	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
part_of activin 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 cell surface	IEA Inferred from Electronic Annotation more info
located_in cell surface	ISO Inferred from Sequence Orthology more info
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
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	TAS Traceable Author Statement more info	PubMed
part_of receptor complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: activin receptor type-1B

Names: activin receptor type IB; activin receptor-like kinase 4; serine/threonine-protein kinase receptor R2

NP_031421.1

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_007395.4 → NP_031421.1 activin receptor type-1B precursor

See identical proteins and their annotated locations for NP_031421.1

Status: VALIDATED

Source sequence(s)

AC161812, AK078525, AK157910, BC059832, BC145775

Consensus CDS

CCDS27846.1

UniProtKB/Swiss-Prot

Q61271

UniProtKB/TrEMBL

Q3TZF1

Related

ENSMUSP00000000544.10, ENSMUST00000000544.12

Conserved Domains (4) summary

smart00220
Location:209 → 492

S_TKc; Serine/Threonine protein kinases, catalytic domain

cd14143
Location:211 → 498

STKc_TGFbR1_ACVR1b_ACVR1c; Catalytic domain of the Serine/Threonine Kinases, Transforming Growth Factor beta Type I Receptor and Activin Type IB/IC Receptors

pfam01064
Location:32 → 109

Activin_recp; Activin types I and II receptor domain

pfam08515
Location:178 → 205

TGF_beta_GS; Transforming growth factor beta type I GS-motif