Acvr1
Gene Detail

Symbol Name ID

Acvr1 activin A receptor, type 1 MGI:87911

Synonyms

ActR-I, ActRIA, Acvr, Acvrlk2, Alk-2, ALK2, Alk8, D330013D15Rik, SKR1, Tsk7L

Feature Type

protein coding gene

Genetic Map

Chromosome 2

33.05 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)

Sequence Map

Chr2:58388644-58567157 bp, - strand From VEGA annotation of GRCm38   178514 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:7  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Protein SuperFamily: type I serine/threonine-protein kinase receptor, Activin/BMP/TGF-beta types
Gene Tree: Acvr1

Human homologs

Human Homolog		ACVR1, activin A receptor, type I
NCBI Gene ID		90
neXtProt AC		NX_Q04771
Human Synonyms		ACTRI, ACVR1A, ACVRLK2, ALK2, FOP, SKR1, TSRI
Human Chr (Location)		2q23-q24; chr2:158592958-158732374 (-)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human ACVR1

Alleles and phenotypes

All alleles(20) : Targeted(8) Gene trapped(12)
 

Homozygous inactivation of this gene leads to embryonic growth arrest and complete embryonic lethality due to gastrulation defects associated with abnormalities in primitive streak formation, embryonic epiblast morphology, and mesoderm and ectoderm development.

 
Human Diseases Modeled Using Mouse Acvr1 (1)    Alleles Annotated to Human Diseases(1)   

Gene Ontology (GO) classifications

All GO classifications: (84 annotations)

Process	activin receptor signaling pathway, atrial septum primum morphogenesis, ...
Component	activin receptor complex, apical part of cell, ...
Function	activin binding, activin receptor activity, type I, ...

This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase

Expression

Literature Summary: (31 records)
Data Summary: Results (343)    Tissues (208)    Images (77)
Theiler Stages: 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 20, 21, 22, 23, 24, 25, 26, 28

Assay Type	Results
Immunohistochemistry	67
RNA in situ	239
Northern blot	28
RT-PCR	9

cDNA source data(39)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(53) Genomic(4) cDNA(43) Primer pair(4) Other(2)
Microarray probesets(6)

Other database links

VEGA Gene Model	OTTMUSG00000012677 (Evidence)
Ensembl Gene Model	ENSMUSG00000026836 (Evidence)
Entrez Gene	11477 (Evidence)
UniGene	689
DFCI	TC1579132, TC1596921
DoTS	DT.101709988, DT.528015, DT.94182889, DT.94191016
NIA Mouse Gene Index	U022654
EC	2.7.11.30
Consensus CDS Project	CCDS16050.1
International Mouse Knockout Project Status	Acvr1

Sequences

Length	Strain/Species
genomic	OTTMUSG00000012677	VEGA Gene Model | MGI Sequence Detail	178514	C57BL/6J
transcript	OTTMUST00000030209	VEGA | MGI Sequence Detail	2891	Not Applicable
polypeptide	OTTMUSP00000013591	VEGA | MGI Sequence Detail	509	Not Applicable

All sequences(50) RefSeq(6) UniProt(4)

Polymorphisms

PCR(1) : SNPs(452 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR000333	Activin type II/Transforming growth factor-beta II receptor
InterPro	IPR017441	Protein kinase, ATP binding site
InterPro	IPR000719	Protein kinase, catalytic domain
InterPro	IPR011009	Protein kinase-like domain
InterPro	IPR008271	Serine/threonine-protein kinase, active site
InterPro	IPR000472	TGF-beta receptor/activin receptor, type I/II
InterPro	IPR003605	TGF beta receptor, GS motif
Protein Ontology	PR:000000067	activin receptor type-1

References

(Earliest) J:11226 Mathews LS, et al., Expression cloning of an activin receptor, a predicted transmembrane serine kinase. Cell. 1991 Jun 14;65(6):973-82
(Latest) J:194134 Chakkalakal SA, et al., An Acvr1 R206H knock-in mouse has fibrodysplasia ossificans progressiva. J Bone Miner Res. 2012 Aug;27(8):1746-56
All references(94)

Other accession IDs

MGD-MRK-1097, MGD-MRK-24453, MGI:103568, MGI:1338943, MGI:2385780, MGI:2445032