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Acvrl1 Gene Detail
Summary
  • Symbol
    Acvrl1
  • Name
    activin A receptor, type II-like 1
  • Synonyms
    activin receptor-like kinase-1, Acvrlk1, Alk1, Alk-1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1338946
    NCBI Gene: 11482
  • Gene Overview
    MyGene.info: ACVRL1
Location & Maps
more
  • Sequence Map
    Chr15:101128522-101145336 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      16815 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 15, 56.41 cM, cytoband F3
  • Mapping Data
    4 experiments
Homology
more
  • Human Ortholog
    ACVRL1, activin A receptor like type 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    ACVRL1, activin A receptor like type 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    ACVRLK1, ALK1, ALK-1, HHT, HHT2, ORW2, SKR3, TSR-I
  • Links
    NCBI Gene ID: 94
    neXtProt AC: NX_P37023

  • Chr Location
    12q13.13; chr12:51906913-51923361 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    2 with Acvrl1 mouse models; 1 with human ACVRL1 associations

Human Disease Mouse Models
       Telangiectasia, Hereditary Hemorrhagic, Type 2; HHT2   OMIM: 600376 View 5 models
       Arteriovenous Malformations of the Brain   OMIM: 108010 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    6 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    71 phenotypes from 7 alleles in 13 genetic backgrounds
    3 images
    47 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    10
  • Chemically induced (other)
    1
  • Radiation induced
    2
  • Targeted
    7
  • Genomic Mutations
    3 involving Acvrl1
  • Incidental Mutations
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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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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 sequence
Polymorphisms
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  • SNPs within 2kb
    143 from dbSNP Build 142
Protein
Information
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  • UniProt
    5 Sequences
  • Protein Ontology
    PR:000000126 serine/threonine-protein kinase receptor R3
  • EC
  • InterPro Domains
    IPR003605 GS domain
    IPR017441 Protein kinase, ATP binding site
    IPR000719 Protein kinase domain
    IPR011009 Protein kinase-like domain
    IPR008271 Serine/threonine-protein kinase, active site
    IPR001245 Serine-threonine/tyrosine-protein kinase catalytic domain
    IPR000333 Ser/Thr protein kinase, TGFB receptor
Molecular
Reagents
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  • All nucleic 44
    cDNA 36
    Primer pair 7
    Other 1

    Microarray probesets 7
Other
Accession IDs
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MGD-MRK-35653, MGI:107192, MGI:2145947, MGI:2145999
References
more
  • Summaries
    All 89
    Developmental Gene Expression 30
    Diseases 6
    Gene Ontology 16
    Phenotypes 47
  • 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:232934 Shahid M, et al., BMP type I receptor ALK2 is required for angiotensin II-induced cardiac hypertrophy. Am J Physiol Heart Circ Physiol. 2016 Apr 15;310(8):H984-94

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
09/27/2016
MGI 6.05
The Jackson Laboratory