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Gene Detail
activin A receptor, type II-like 1
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
HomoloGene:20058  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

Protein SuperFamily: type I serine/threonine-protein kinase receptor, Activin/BMP/TGF-beta types
Gene Tree: Acvrl1

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
All mutations/alleles(8) : Radiation induced(1) Targeted(7)
Genomic Mutations involving Acvrl1 (1)
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)
Acvrl1 interacts with 194 markers (Mir1a-1, Mir1a-2, Mir10a, ...)
Gene Ontology
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
Literature Summary: (28 records)
Data Summary: Results (334)    Tissues (137)    Images (122)
Theiler Stages: 2, 3, 19, 20, 21, 22, 23, 24, 25, 26, 27, 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   Expression Atlas
All nucleic(44) cDNA(36) Primer pair(7) Other(1)
Microarray probesets(7)
Other database
VEGA Gene ModelOTTMUSG00000029275 (Evidence)
Ensembl Gene ModelENSMUSG00000000530 (Evidence)
Entrez Gene11482 (Evidence)
DFCITC1582347, TC1664244
DoTSDT.91338661, DT.94329712, DT.94329714, DT.97371542
NIA Mouse Gene IndexU016681
Consensus CDS ProjectCCDS37215.1
International Mouse Knockout Project StatusAcvrl1
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)
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:211569 Munoz-Felix JM, et al., ALK1 heterozygosity increases extracellular matrix protein expression, proliferation and migration in fibroblasts. Biochim Biophys Acta. 2014 Jun;1843(6):1111-22
All references(81)
Disease annotation references (4)
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
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last database update
MGI 5.19
The Jackson Laboratory