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Aliases for ACVRL1 Gene

Aliases for ACVRL1 Gene

  • Activin A Receptor Type II-Like 1 2 3
  • TGF-B Superfamily Receptor Type I 3 4
  • EC 2.7.11.30 4 63
  • ACVRLK1 3 4
  • TSR-I 3 4
  • ALK-1 3 4
  • ALK1 3 4
  • SKR3 3 4
  • Activin A Receptor, Type II-Like Kinase 1 3
  • Activin Receptor-Like Kinase 1 4
  • EC 2.7.11 63
  • HHT2 3
  • ORW2 3
  • HHT 3

External Ids for ACVRL1 Gene

Previous HGNC Symbols for ACVRL1 Gene

  • ACVRLK1
  • ORW2

Previous GeneCards Identifiers for ACVRL1 Gene

  • GC12M052630
  • GC12P052332
  • GC12P052017
  • GC12P050587
  • GC12P049334
  • GC12P052300

Summaries for ACVRL1 Gene

Entrez Gene Summary for ACVRL1 Gene

  • This gene encodes a type I cell-surface receptor for the TGF-beta superfamily of ligands. It shares with other type I receptors a high degree of similarity in serine-threonine kinase subdomains, a glycine- and serine-rich region (called the GS domain) preceding the kinase domain, and a short C-terminal tail. The encoded protein, sometimes termed ALK1, shares similar domain structures with other closely related ALK or activin receptor-like kinase proteins that form a subfamily of receptor serine/threonine kinases. Mutations in this gene are associated with hemorrhagic telangiectasia type 2, also known as Rendu-Osler-Weber syndrome 2. [provided by RefSeq, Jul 2008]

GeneCards Summary for ACVRL1 Gene

ACVRL1 (Activin A Receptor Type II-Like 1) is a Protein Coding gene. Diseases associated with ACVRL1 include acvrl1-related hereditary hemorrhagic telangiectasia and telangiectasia, hereditary hemorrhagic, type 2. Among its related pathways are Akt Signaling and PAK Pathway. GO annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is TGFBR2.

UniProtKB/Swiss-Prot for ACVRL1 Gene

  • Type I receptor for TGF-beta family ligands BMP9/GDF2 and BMP10 and important regulator of normal blood vessel development. On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. May bind activin as well.

Gene Wiki entry for ACVRL1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ACVRL1 Gene

Genomics for ACVRL1 Gene

Regulatory Elements for ACVRL1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for ACVRL1 Gene

Chromosome:
12
Start:
51,906,908 bp from pter
End:
51,923,361 bp from pter
Size:
16,454 bases
Orientation:
Plus strand

Genomic View for ACVRL1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ACVRL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACVRL1 Gene

Proteins for ACVRL1 Gene

  • Protein details for ACVRL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P37023-ACVL1_HUMAN
    Recommended name:
    Serine/threonine-protein kinase receptor R3
    Protein Accession:
    P37023
    Secondary Accessions:
    • A6NGA8

    Protein attributes for ACVRL1 Gene

    Size:
    503 amino acids
    Molecular mass:
    56124 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for ACVRL1 Gene

neXtProt entry for ACVRL1 Gene

Proteomics data for ACVRL1 Gene at MOPED

Post-translational modifications for ACVRL1 Gene

  • Glycosylation at Asn 98
  • Modification sites at PhosphoSitePlus

Other Protein References for ACVRL1 Gene

Antibody Products

Domains & Families for ACVRL1 Gene

Suggested Antigen Peptide Sequences for ACVRL1 Gene

Graphical View of Domain Structure for InterPro Entry

P37023

UniProtKB/Swiss-Prot:

ACVL1_HUMAN :
  • Contains 1 GS domain.
  • Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily.
Domain:
  • Contains 1 GS domain.
  • Contains 1 protein kinase domain.
Family:
  • Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily.
genes like me logo Genes that share domains with ACVRL1: view

Function for ACVRL1 Gene

Molecular function for ACVRL1 Gene

GENATLAS Biochemistry:
activin A receptor,type II-like 1,homolog to ORW2
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + [receptor-protein] = ADP + [receptor-protein] phosphate
UniProtKB/Swiss-Prot Function:
Type I receptor for TGF-beta family ligands BMP9/GDF2 and BMP10 and important regulator of normal blood vessel development. On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. May bind activin as well.

Enzyme Numbers (IUBMB) for ACVRL1 Gene

Gene Ontology (GO) - Molecular Function for ACVRL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004672 protein kinase activity --
GO:0004674 protein serine/threonine kinase activity IDA 12065756
GO:0004675 transmembrane receptor protein serine/threonine kinase activity NAS 8242742
GO:0004702 receptor signaling protein serine/threonine kinase activity IEA --
GO:0005024 transforming growth factor beta-activated receptor activity IDA 8242742
genes like me logo Genes that share ontologies with ACVRL1: view
genes like me logo Genes that share phenotypes with ACVRL1: view

Animal Models for ACVRL1 Gene

MGI Knock Outs for ACVRL1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ACVRL1

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for ACVRL1 Gene

Localization for ACVRL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACVRL1 Gene

Membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ACVRL1 Gene COMPARTMENTS Subcellular localization image for ACVRL1 gene
Compartment Confidence
plasma membrane 5
extracellular 2
cytosol 1
endoplasmic reticulum 1
nucleus 1

Gene Ontology (GO) - Cellular Components for ACVRL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005887 integral component of plasma membrane IDA 8242742
GO:0009986 cell surface IDA 8242742
GO:0016020 membrane --
GO:0016021 integral component of membrane --
genes like me logo Genes that share ontologies with ACVRL1: view

Pathways & Interactions for ACVRL1 Gene

genes like me logo Genes that share pathways with ACVRL1: view

Pathways by source for ACVRL1 Gene

PCR Array Products

SIGNOR curated interactions for ACVRL1 Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for ACVRL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001525 angiogenesis IMP 16752392
GO:0001701 in utero embryonic development IEA --
GO:0001936 regulation of endothelial cell proliferation TAS 20406889
GO:0001937 negative regulation of endothelial cell proliferation IEA --
GO:0001938 positive regulation of endothelial cell proliferation IEA --
genes like me logo Genes that share ontologies with ACVRL1: view

Drugs & Compounds for ACVRL1 Gene

(6) Drugs for ACVRL1 Gene - From: HMDB, DrugBank, NovoSeek, and DGIdb

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra Target 0
Dalantercept Pharma inhibitor ALK1 inhibitor 0
Manganese Pharma 30
Magnesium Nutra 0
serine Nutra 420

(5) Additional Compounds for ACVRL1 Gene - From: HMDB and NovoSeek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Antagonist, Gating inhibitor 58-64-0
[AlCl]
Oligonucleotide
TGF beta1
VEGF
genes like me logo Genes that share compounds with ACVRL1: view

Transcripts for ACVRL1 Gene

Unigene Clusters for ACVRL1 Gene

Activin A receptor type II-like 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ACVRL1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ACVRL1 Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10
SP1: - -
SP2:
SP3: - - - - - - - -
SP4: - -

Relevant External Links for ACVRL1 Gene

GeneLoc Exon Structure for
ACVRL1
ECgene alternative splicing isoforms for
ACVRL1

Expression for ACVRL1 Gene

mRNA expression in normal human tissues for ACVRL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ACVRL1 Gene

This gene is overexpressed in Lung (x5.3).

Protein differential expression in normal tissues from HIPED for ACVRL1 Gene

This gene is overexpressed in Placenta (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ACVRL1 Gene



SOURCE GeneReport for Unigene cluster for ACVRL1 Gene Hs.591026

genes like me logo Genes that share expression patterns with ACVRL1: view

Protein tissue co-expression partners for ACVRL1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for ACVRL1 Gene

Orthologs for ACVRL1 Gene

This gene was present in the common ancestor of animals.

Orthologs for ACVRL1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ACVRL1 35
  • 90.55 (n)
  • 92.13 (a)
ACVRL1 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ACVRL1 35
  • 90.72 (n)
  • 93.24 (a)
ACVRL1 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Acvrl1 35
  • 85.43 (n)
  • 89.02 (a)
Acvrl1 16
Acvrl1 36
  • 89 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ACVRL1 35
  • 99.47 (n)
  • 100 (a)
ACVRL1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Acvrl1 35
  • 85.42 (n)
  • 89.66 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia ACVRL1 36
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves ACVRL1 35
  • 69.78 (n)
  • 71.03 (a)
ACVRL1 36
  • 40 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ACVRL1 36
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100493282 35
  • 60.29 (n)
  • 64.13 (a)
zebrafish
(Danio rerio)
Actinopterygii acvrl1 35
  • 64.85 (n)
  • 64.17 (a)
acvrl1 36
  • 56 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3186 35
fruit fly
(Drosophila melanogaster)
Insecta sax 37
  • 49 (a)
sax 36
  • 43 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea daf-1 37
  • 39 (a)
sma-6 37
  • 37 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 42 (a)
OneToMany
Species with no ortholog for ACVRL1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ACVRL1 Gene

ENSEMBL:
Gene Tree for ACVRL1 (if available)
TreeFam:
Gene Tree for ACVRL1 (if available)

Paralogs for ACVRL1 Gene

(8) SIMAP similar genes for ACVRL1 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with ACVRL1: view

Variants for ACVRL1 Gene

Sequence variations from dbSNP and Humsavar for ACVRL1 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type MAF
rs15403 -- 51,923,292(-) AAANA(A/G)CGTCT utr-variant-3-prime
rs697631 -- 51,921,914(-) tttct(A/G)ctaaa utr-variant-3-prime
rs706811 -- 51,911,863(-) CACAA(A/G)GTCTG intron-variant, upstream-variant-2KB
rs706812 -- 51,912,557(-) TTTCC(C/T)AACTG intron-variant
rs706813 -- 51,916,942(-) gactg(G/T)agtgc intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ACVRL1 Gene

Variant ID Type Subtype PubMed ID
nsv527286 CNV Loss 19592680
nsv523741 CNV Loss 19592680
nsv707 CNV Insertion 18451855

Variation tolerance for ACVRL1 Gene

Residual Variation Intolerance Score: 49.97% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.59; 44.93% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ACVRL1 Gene

HapMap Linkage Disequilibrium report
ACVRL1
Human Gene Mutation Database (HGMD)
ACVRL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACVRL1 Gene

Disorders for ACVRL1 Gene

MalaCards: The human disease database

(24) MalaCards diseases for ACVRL1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
acvrl1-related hereditary hemorrhagic telangiectasia
  • acvrl1-related hht
telangiectasia, hereditary hemorrhagic, type 2
  • hereditary hemorrhagic telangiectasia type 2
hereditary hemorrhagic telangiectasia
  • rendu-osler-weber disease
pulmonary arteriovenous malformation
  • pulmonary arteriovenous fistula
telangiectasis
  • telangiectasia
- elite association

UniProtKB/Swiss-Prot

ACVL1_HUMAN
  • Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]: A multisystemic vascular dysplasia leading to dilation of permanent blood vessels and arteriovenous malformations of skin, mucosa, and viscera. The disease is characterized by recurrent epistaxis and gastro-intestinal hemorrhage. Visceral involvement includes arteriovenous malformations of the lung, liver, and brain. {ECO:0000269 PubMed:10694922, ECO:0000269 PubMed:10767348, ECO:0000269 PubMed:11170071, ECO:0000269 PubMed:11484689, ECO:0000269 PubMed:14684682, ECO:0000269 PubMed:15024723, ECO:0000269 PubMed:15712270, ECO:0000269 PubMed:16525724, ECO:0000269 PubMed:16752392, ECO:0000269 PubMed:20414677, ECO:0000269 PubMed:8640225, ECO:0000269 PubMed:9245985}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ACVRL1

Genetic Association Database (GAD)
ACVRL1
Human Genome Epidemiology (HuGE) Navigator
ACVRL1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ACVRL1
genes like me logo Genes that share disorders with ACVRL1: view

No data available for Genatlas for ACVRL1 Gene

Publications for ACVRL1 Gene

  1. Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2. (PMID: 8640225) Johnson D.W. … Marchuk D.A. (Nat. Genet. 1996) 2 23 67
  2. Activin receptor-like kinases: a novel subclass of cell-surface receptors with predicted serine/threonine kinase activity. (PMID: 8397373) ten Dijke P. … Miyazono K. (Oncogene 1993) 2 23 67
  3. Clinical outcomes of pulmonary arterial hypertension in patients carrying an ACVRL1 (ALK1) mutation. (PMID: 20056902) Girerd B. … Humbert M. (Am. J. Respir. Crit. Care Med. 2010) 23 67
  4. BMP-9 induces proliferation of multiple types of endothelial cells in vitro and in vivo. (PMID: 20406889) Suzuki Y. … Watabe T. (J. Cell. Sci. 2010) 23 67
  5. Endothelial cells are activated during hypoxia via endoglin/ALK-1/SMAD1/5 signaling in vivo and in vitro. (PMID: 20060813) Tian F. … AkyA1rek L.M. (Biochem. Biophys. Res. Commun. 2010) 23 67

Products for ACVRL1 Gene

Sources for ACVRL1 Gene

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