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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
  • Alliance
    gene page
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
    VEGA | Ensembl | UCSC | NCBI
  • 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
    UniProt: P37023

  • Chr Location
    12q13.13; chr12:51906913-51923361 (+)  GRCh38.p7
Human Diseases
more
  • Diseases
    2 with Acvrl1 mouse models; 1 with human ACVRL1 associations

Human Disease Mouse Models
      
IDs
 View 5 models
      
IDs
 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
    13 images
    51 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
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
less
  • All GO Annotations
    92
  • GO References
    17
Molecular Function

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

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
less
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
    356
  • Tissues
    147
  • cDNA Data
    36
  • Literature Summary
    34
  • Comparison Matrix
    Gene Expression + Phenotype
    • Interactions
    less
    Sequences &
    Gene Models
    less
    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
    less
    • SNPs within 2kb
      143 from dbSNP Build 142
    Protein
    Information
    less
    • UniProt
      5 Sequences
    • EC
      2.7.11.30
    • InterPro Domains
      IPR003605 GS domain
      IPR017441 Protein kinase, ATP binding site
      IPR000719 Protein kinase domain
      IPR011009 Protein kinase-like domain superfamily
      IPR008271 Serine/threonine-protein kinase, active site
      IPR001245 Serine-threonine/tyrosine-protein kinase, catalytic domain
      IPR000333 Ser/Thr protein kinase, TGFB receptor
    Molecular
    Reagents
    less
    • All nucleic 48
      cDNA 37
      Primer pair 8
      Other 3

      Microarray probesets 7
    Other
    Accession IDs
    less
    MGD-MRK-35653, MGI:107192, MGI:2145947, MGI:2145999
    References
    more
    • Summaries
      All 123
      Developmental Gene Expression 34
      Diseases 6
      Gene Ontology 17
      Phenotypes 51
    • Earliest
      J:7688 Lane PW, et al., Association of megacolon with a new dominant spotting gene (Dom) in the mouse. J Hered. 1984 Nov-Dec;75(6):435-9
    • Latest
      J:262893 Araki M, et al., Serum/glucocorticoid-regulated kinase 1 as a novel transcriptional target of bone morphogenetic protein-ALK1 receptor signaling in vascular endothelial cells. Angiogenesis. 2018 May;21(2):415-423
    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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    Send questions and comments to User Support.     		last database update
    10/09/2018
    MGI 6.12     		The Jackson Laboratory