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

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

Mutations,
alleles, and
phenotypes

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 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, ...)

View All

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 (333)    Tissues (136)    Images (122)    Tissue x Stage Matrix (view)

Assay Type	Results
RNA in situ	91
In situ reporter (knock in)	119
Western blot	18
RT-PCR	105

cDNA source data(35)
External Resources: Allen Institute   GEO   Expression Atlas

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.97371542, DT.94329712
NIA Mouse Gene Index	U016681
EC	2.7.11.30
Consensus CDS Project	CCDS37215.1
International Mouse Knockout Project Status	Acvrl1

Sequences

Length	Strain/Species
genomic	OTTMUSG00000029275	VEGA Gene Model | MGI Sequence Detail	16815	C57BL/6J
transcript	OTTMUST00000072527	VEGA | MGI Sequence Detail	3640	Not Applicable
polypeptide	OTTMUSP00000037369	VEGA | MGI Sequence Detail	502	Not Applicable

All sequences(80) RefSeq(10) UniProt(5)

Polymorphisms

SNPs within 2kb(145 from dbSNP Build 137)

Protein-related
information

Resource	ID	Description
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:217434 Mizuta K, et al., Impairment of endothelial-mesenchymal transformation during atrioventricular cushion formation in Tmem100 null embryos. Dev Dyn. 2015 Jan;244(1):31-42
All references(84)
Disease annotation references (4)

Other
accession IDs

MGD-MRK-35653, MGI:107192, MGI:2145947, MGI:2145999