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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 western clawed frog; 1 zebrafish

HCOP human homology predictions: ACVR1
Protein SuperFamily: type I serine/threonine-protein kinase receptor, Activin/BMP/TGF-beta types
Gene Tree: Acvr1

Human
homologs
ACVR1, activin A receptor, type I
Orthology source: HomoloGene, HGNC

IDs:
NCBI Gene ID: 90
neXtProt AC: NX_Q04771

Human Synonyms: ACTRI, ACVR1A, ACVRLK2, ALK2, FOP, SKR1, TSRI

Human Chr (Location): 2q23-q24; chr2:157736444-157875862 (-)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human ACVR1

Mutations,
alleles, and
phenotypes
All mutations/alleles(22) : Gene trapped(12) Targeted(9) Transgenic(1)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
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 in Mice Using Acvr1 (1)    Mutations Annotated to Human Diseases (2)   
Interactions
Acvr1 interacts with 312 markers (Mir10a, Mir15a, Mir15b, ...)
Gene Ontology
(GO)
classifications
Expression
Literature Summary: (37 records)
Data Summary: Results (343)    Tissues (208)    Images (77)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 67
RNA in situ 239
Northern blot 28
RT-PCR 9
cDNA source data(38)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: GEISHA ACVR1 ; Xenbase acvr1    NEW 
Molecular
reagents
All nucleic(52) Genomic(4) cDNA(42) 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 TC1596921, TC1579132
DoTS DT.528015, DT.101709988, DT.94191016, DT.94182889
NIA Mouse Gene Index U022654
EC 2.7.11.30
Consensus CDS Project CCDS16050.1
International Mouse Phenotyping Consortium Status Acvr1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000012677 VEGA Gene Model | MGI Sequence Detail 178514 C57BL/6J ±  kb
transcript OTTMUST00000030211 VEGA | MGI Sequence Detail 3293 Not Applicable 
polypeptide OTTMUSP00000013592 VEGA | MGI Sequence Detail 509 Not Applicable 

For the selected sequences
All sequences(51) RefSeq(8) UniProt(3)
Polymorphisms
PCR(1) : SNPs within 2kb(1632 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
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:218259 Hill CR, et al., Type III transforming growth factor beta receptor regulates vascular and osteoblast development during palatogenesis. Dev Dyn. 2015 Feb;244(2):122-33
All references(106)
Disease annotation references (2)
Other
accession IDs
MGD-MRK-1097, MGD-MRK-24453, MGI:103568, MGI:1338943, MGI:2385780, MGI:2445032

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
05/20/2015
MGI 5.22
The Jackson Laboratory