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Acvrl1 Gene Detail
 Symbol
Name
ID
Acvrl1
activin A receptor, type II-like 1
MGI:1338946

Nomenclature History
Synonyms activin receptor-like kinase-1, Acvrlk1, Alk-1, Alk1
Genetic Map
Chromosome 15
cytoband F3
 
Mapping data( 4)
Sequence Map
Chr15:100958953-100975767 bp, + strand
(From VEGA annotation of NCBI Build 37)
VEGA ContigView | Ensembl ContigView | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser
Mammalian
homology
human; chimpanzee; cattle; dog, domestic; rat    (Mammalian Orthology)
Protein SuperFamily: type I serine/threonine-protein kinase receptor, Activin/BMP/TGF-beta types
TreeFam: TF314724
Sequences
Representative Sequences Length Strain/Species Flank
genomic OTTMUSG00000029275 VEGA Gene Model | MGI Sequence Detail 16815 C57BL/6J ± Kb
transcript NM_009612 RefSeq | MGI Sequence Detail 3625 -
polypeptide Q61288 UniProt | EBI | MGI Sequence Detail 502 Not Applicable
For the selected sequences
All sequences(27)
Alleles
and
phenotypes 		All alleles(7) : Targeted, knock-out(3) Targeted, other(4)
Mice homozygous for targeted mutations that inactivate the gene die at midgestation with severe vascular abnormalities, including fusion of major arteries and veins. Mice heterozygous for one targeted mutation provide a suitable model for hereditary hemorrhagic telangiectasia type 2.
Associated Human Diseases (1)   Alleles Annotated to Human Diseases (1)   Phenotype Images (1)  
Polymorphisms SNPs within 2kb(63 from dbSNP Build 128)  
Gene Ontology
(GO)
classifications
All GO classifications: (26 annotations)
Process angiogenesis, blood vessel morphogenesis...
Component cell surface, integral to membrane...
Function activin receptor activity, type I, ATP binding...
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression Literature Summary: (19 records)
Data Summary: Assays (6)    Results (169)    Tissues (95)    Images (81)
Theiler Stages: 19,20,21,22,23,24,25,28
  Assay Type Assays   Results
      RT-PCR 4   47
      In situ reporter (knock in) 1   120
      RNA in situ 1   2
cDNA source data(33)
External Resources: Allen Brain Atlas  GENSAT  GEO  ArrayExpress 
Molecular
reagents 		All nucleic(39) cDNA(34) Primer pair(4) Other(1)
Microarray probesets(2)
Other database
links
EC 2.7.11.30
Ensembl Gene Model ENSMUSG00000000530
DoTS DT.91338661, DT.94329712, DT.94329714, DT.97371542
Consensus CDS Project CCDS37215.1
UniGene 279542
DFCI TC1582347, TC1664244
NIA Mouse Gene Index U016681
Entrez Gene 11482
VEGA Gene Model OTTMUSG00000029275
International Mouse Knockout Project Status Acvrl1
Protein
domains
InterPro ID Description
IPR000472 TGF-beta receptor/activin receptor, type I/II
IPR000719 Protein kinase, catalytic domain
IPR003605 TGF beta receptor, GS motif
IPR008271 Serine/threonine-protein kinase, active site
IPR011009 Protein kinase-like domain
IPR017441 Protein kinase, ATP binding site
IPR017442 Serine/threonine-protein kinase-like domain
Graphical View of Protein Domain Structure
References
(Earliest) J:25936 Dewulf N et al., "Distinct spatial and temporal expression patterns of two type I receptors for bone morphogenetic proteins during mouse embryogenesis." Endocrinology 1995 Jun;136(6):2652-63
(Latest) J:154620 Park SO et al., "Real-time imaging of de novo arteriovenous malformation in a mouse model of hereditary hemorrhagic telangiectasia." J Clin Invest 2009 Nov;119(11):3487-96
All references(35)
Other
accession IDs 		MGD-MRK-35653, MGI:107192, MGI:2145947, MGI:2145999
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
02/06/2010
MGI_4.32
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