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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 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; chr2:157736446-157875862 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human ACVR1
Alleles
and
phenotypes
All alleles(21) : Gene trapped(12) Targeted(9)
Incidental mutations (data from Mutagenetix , APF )
 
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: (33 records)
Data Summary: Results (343)    Tissues (209)    Images (77)
Theiler Stages: 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 20, 21, 22, 23, 24, 25, 26, 28
Assay TypeResults
Immunohistochemistry 67
RNA in situ 239
Northern blot 28
RT-PCR 9
cDNA source data(38)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(52) Genomic(4) cDNA(42) Primer pair(4) Other(2)
Microarray probesets(6)
Other database
links
VEGA Gene ModelOTTMUSG00000012677 (Evidence)
Ensembl Gene ModelENSMUSG00000026836 (Evidence)
Entrez Gene11477 (Evidence)
UniGene689
DFCITC1579132, TC1596921
DoTSDT.101709988, DT.528015, DT.94182889, DT.94191016
NIA Mouse Gene IndexU022654
EC2.7.11.30
Consensus CDS ProjectCCDS16050.1
International Mouse Knockout Project StatusAcvr1
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:210176 Mayeur C, et al., The type I BMP receptor Alk3 is required for the induction of hepatic hepcidin gene expression by interleukin-6. Blood. 2014 Apr 3;123(14):2261-8
All references(102)
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
Citing These Resources
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last database update
07/15/2014
MGI 5.18
The Jackson Laboratory