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Acvrl1
Gene Detail
 Symbol
Name
ID
Acvrl1
activin A receptor, type II-like 1
MGI:1338946
Synonyms activin receptor-like kinase-1, Acvrlk1, Alk1, Alk-1
Feature Type protein coding gene
Genetic Map
Chromosome 15
56.41 cM, cytoband F3
Detailed Genetic Map ± 1 cM


Mapping data(4)
Sequence Map
Chr15:101128522-101145336 bp, + strand
From VEGA annotation of GRCm38

  16815 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:20058  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: Acvrl1

Human
homologs
Human Homolog ACVRL1, activin A receptor type II-like 1
NCBI Gene ID 94
neXtProt AC  NX_P37023
Human Synonyms  ACVRLK1, ALK1, ALK-1, HHT, HHT2, ORW2, SKR3, TSR-I
Human Chr (Location)  12q13.13; chr12:51906913-51923361 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human ACVRL1
Alleles
and
phenotypes
All alleles(7) : Targeted(7)
Incidental mutations (data from Mutagenetix , APF )
 
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.
 
Human Diseases Modeled Using Mouse Acvrl1 (2)    Alleles Annotated to Human Diseases(3)    Phenotype Images(3)
Gene Ontology
(GO)
classifications
All GO classifications: (82 annotations)
Process activin receptor signaling pathway, angiogenesis, ...
Component cell surface, dendrite, ...
Function activin binding, activin receptor activity, type I, ...
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
Literature Summary: (28 records)
Data Summary: Results (334)    Tissues (135)    Images (122)
Theiler Stages: 2, 3, 19, 20, 21, 22, 23, 24, 25, 26, 28
Assay TypeResults
RNA in situ 91
In situ reporter (knock in) 120
Western blot 18
RT-PCR 105
cDNA source data(35)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(44) cDNA(36) Primer pair(7) Other(1)
Microarray probesets(7)
Other database
links
VEGA Gene ModelOTTMUSG00000029275 (Evidence)
Ensembl Gene ModelENSMUSG00000000530 (Evidence)
Entrez Gene11482 (Evidence)
UniGene279542
DFCITC1582347, TC1664244
DoTSDT.91338661, DT.94329712, DT.94329714, DT.97371542
NIA Mouse Gene IndexU016681
EC2.7.11.30
Consensus CDS ProjectCCDS37215.1
International Mouse Knockout Project StatusAcvrl1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000029275 VEGA Gene Model | MGI Sequence Detail 16815 C57BL/6J ±  kb
transcript OTTMUST00000072527 VEGA | MGI Sequence Detail 3640 Not Applicable 
polypeptide OTTMUSP00000037369 VEGA | MGI Sequence Detail 502 Not Applicable 

For the selected sequences
All sequences(80) RefSeq(10) UniProt(5)
Polymorphisms SNPs within 2kb(145 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:000000126 serine/threonine-protein kinase receptor R3
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:204744 Wang X, et al., LRG1 promotes angiogenesis by modulating endothelial TGF-beta signalling. Nature. 2013 Jul 18;499(7458):306-11
All references(80)
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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last database update
07/15/2014
MGI 5.18
The Jackson Laboratory