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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 western clawed frog; 1 zebrafish

HCOP human homology predictions: ACVRL1
Protein SuperFamily: type I serine/threonine-protein kinase receptor, Activin/BMP/TGF-beta types
Gene Tree: Acvrl1

Human
homologs
ACVRL1, activin A receptor type II-like 1
Orthology source: HomoloGene

IDs:
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.p2

Disease Associations: (1) Diseases Associated with Human ACVRL1

Mutations,
alleles, and
phenotypes
All mutations/alleles(8) : Radiation induced(1) Targeted(7)
Genomic Mutations involving Acvrl1 (1)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
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 in Mice Using Acvrl1 (2)    Mutations Annotated to Human Diseases (3)    Phenotype Images(5)
Interactions
Acvrl1 interacts with 194 markers (Mir1a-1, Mir1a-2, Mir10a, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (81 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: (30 records)
Data Summary: Results (333)    Tissues (136)    Images (122)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 91
In situ reporter (knock in) 119
Western blot 18
RT-PCR 105
cDNA source data(35)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase acvrl1 ; ZFIN acvrl1    NEW 
Molecular
reagents
All nucleic(44) cDNA(36) Primer pair(7) Other(1)
Microarray probesets(7)
Other database
links
VEGA Gene Model OTTMUSG00000029275 (Evidence)
Ensembl Gene Model ENSMUSG00000000530 (Evidence)
Entrez Gene 11482 (Evidence)
UniGene 279542
DFCI TC1664244, TC1582347
DoTS DT.91338661, DT.94329714, DT.94329712, DT.97371542
NIA Mouse Gene Index U016681
EC 2.7.11.30
Consensus CDS Project CCDS37215.1
International Mouse Phenotyping Consortium Status Acvrl1
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: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(86)
Disease annotation references (4)
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
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last database update
07/21/2015
MGI 5.22
The Jackson Laboratory