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Aliases & Descriptions for ACVRL1
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases ACVRLK1 2 , 3 , 5 ALK-1 2 , 3 ALK1 1 , 2 , 3 , 5 EC 2.7.11.30 3 HHT 1 , 2 HHT2 1 , 2 , 5 ORW2 2 SKR3 2 , 3 TSR-I 2 , 3
Descriptions Activin receptor-like kinase 1 3 TGF-B superfamily receptor type I 2 , 3 activin A receptor type II-like 1 2 activin A receptor, type II-like kinase 1 2 serine/threonine-protein kinase receptor R3 2
Search outside databases for aliases for ACVRL1 genePrevious GC identifers: GC12M052630 GC12P052332 GC12P052017
Summaries for ACVRL1 (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for ACVRL1 : This gene encodes a type I cell-surface receptor for the TGF-beta superfamily of ligands. It shareswith other type I receptors a high degree of similarity in serine-threonine kinase subdomains, aglycine- and serine-rich region (called the GS domain) preceding the kinase domain, and a shortC-terminal tail. The encoded protein, sometimes termed ALK1, shares similar domain structures withother closely related ALK or activin receptor-like kinase proteins that form a subfamily ofreceptor serine/threonine kinases. Mutations in this gene are associated with hemorrhagictelangiectasia type 2, also known as Rendu-Osler-Weber syndrome 2. [provided by RefSeq] UniProtKB/Swiss-Prot: ACVL1_HUMAN, P37023 Function : On ligand binding, forms a receptor complex consisting of two type II and two type Itransmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type Ireceptors which autophosphorylate, then bind and activate SMAD transcriptional regulators.Receptor for TGF-beta. May bind activin as well
Gene Wiki entry for ACVRL1
Genomic Location for ACVRL1
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 36) ,
and/or miRBase ,
Genomic Views according to
UCSC and
Ensembl ,
Transcription factor binding sites according to
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the ACVRL1 gene Entrez Gene cytogenetic band: 12q11-q14 Ensembl cytogenetic band: 12q13.13 HGNC cytogenetic band: 12q11-q14 ACVRL1 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc gene densities for chromosome 12 GeneLoc Exon Structure
GeneLoc location for GC12P050587:
(about GC identifiers )
Start:
50,587,469 bp from pter
End:
50,603,412 bp from pter
Size:
15,944 bases
Orientation:
plus strand
RefSeq DNA sequence: NC_000012.10 NT_029419.11 Proteins for ACVRL1
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Enzo Life Sciences ,
Abnova ,
OriGene and/or,
Abcam ,
Biochemical Assays by
Invitrogen ,
Millipore ,
R&D Systems ,
Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene ,
Antibodies by Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology ,
Abcam ,
Abnova , and/or
Novus Biologicals )
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UniProtKB/Swiss-Prot: ACVL1_HUMAN, P37023 (See
protein sequence )Recommended Name: Serine/threonine-protein kinase receptor R3 precursor Size : 503 amino acids; 56124 Da
Cofactor : Magnesium or manganese (By similarity)
Subcellular location : Membrane; Single-pass type I membrane protein
Secondary accessions : A6NGA8
Post-translational modifications:
View phosphorylation sites using PhosphoSite 2
REFSEQ proteins (2 alternative transcripts):
NP_000011.2 NP_001070869.1 ENSEMBL proteins: ENSP00000267008 ENSP00000373574 Human Recombinant Proteins               OriGene Purified Recombinant Human Protein: ACVRL1 4 Gene Ontology (GO) cellular component terms (links to tree view) :
About this table Antibodies for ACVRL1: Assays for ACVRL1:
Protein
Domains/ Families for ACVRL1(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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Graphical View of Domain Structure for InterPro Entry P37023 ProtoNet protein and cluster: P37023
1 Blocks protein family : IPB000472 Domain in TGF-beta receptor/activin receptor UniProtKB/Swiss-Prot: ACVL1_HUMAN, P37023 Similarity : Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFBreceptor subfamily Similarity : Contains 1 GS domainSimilarity : Contains 1 protein kinase domain
Gene Function for ACVRL1
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
shRNA from
OriGene ,
Sigma-Aldrich , RNAi from
Sigma-Aldrich ,
RNAi Products ,
Clones , and
Q-PCR Products
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Millipore ,
OriGene , and/or
Abnova ,
siRNAs from
Applied Biosystems ,
SYBR primers from OriGene ,
Cell-based Assays from Millipore ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_001077401 Applied Biosystems Silencer ® siRNAs for ACVRL1 Sigma-Aldrich siRNA and siRNA Panels for ACVRL1 Sigma-Aldrich shRNA Panels and shRNA for ACVRL1 Explore Sigma-Aldrich super-pooled esiRNAs                OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_000020                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_000020                                  untagged cDNA clones in CMV expression vector (see all 3 ): NM_000020  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_000020 UniProtKB/Swiss-Prot: ACVL1_HUMAN, P37023 Function : On ligand binding, forms a receptor complex consisting of two type II and two type Itransmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type Ireceptors which autophosphorylate, then bind and activate SMAD transcriptional regulators.Receptor for TGF-beta. May bind activin as well Catalytic activity : ATP + [receptor-protein] = ADP + [receptor-protein] phosphateEnzyme Number (IUBMB): EC 2.7.11.30
Genatlas biochemistry entry for ACVRL1 :activin A receptor,type II-like 1,homolog to ORW2
11 MGI mutant phenotypes (inferred from 4 alleles ) (MGI details for Acvrl1) :5/10 Gene Ontology (GO) molecular function terms (links to tree view) (see all 10
):
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Pathways & Interactions for ACVRL1
(Pathways according to Invitrogen
(maps by GeneGo ),
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Proteins Network according to
SABiosciences ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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Gene Network CentralTM Interacting Genes and Proteins Network for ACVRL1 5/38 Interacting proteins for ACVRL1 (ENSP00000267008 3 ) via UniProtKB, MINT, and/or STRING (see all 38
)About this table 5/14 Gene Ontology (GO) biological process terms (links to tree view) (see all 14
):
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Drugs & Compounds for ACVRL1 (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
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Browse Tocris compounds for ACVRL1 4 Novoseek chemical compound relationships for ACVRL1 gene
Compound
Score
Articles
PubMed IDs for Articles with Shared Sentences (# sentences)
[alcl]
73.10
6
12657933 (2), 10786813 (1), 17484779 (1), 12835569 (1) (see all 5 )
tgf beta1
44.79
6
17071858 (2), 16762882 (1), 16785228 (1), 17068149 (1)
threonine
36.97
6
8397373 (1), 12700602 (1), 18159113 (1), 16785228 (1)
oligonucleotide
0.00
3
12384983 (2), 10899246 (1)
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Transcripts for ACVRL1(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from Invitrogen ,
Millipore , and/or
Abnova ,
siRNAs from Applied Biosystems ,
Sigma-Aldrich ,
shRNA from
Sigma-Aldrich ,
OriGene ,
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_001077401 Sigma-Aldrich siRNA and siRNA Panels for ACVRL1 Sigma-Aldrich shRNA Panels and shRNA for ACVRL1 Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_000020 NM_001077401
REFSEQ mRNAs for ACVRL1 gene (2 alternative transcripts): NM_000020.2 NM_001077401.1
Applied Biosystems TaqMan ® Gene Expression Assays: NM_000020 NM_001077401
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_000020                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_000020                                  untagged cDNA clones in CMV expression vector (see all 3 ): NM_000020  
Additional cDNA sequence: AK056725.1 AK298493.1 AK300619.1 AK303331.1 BC042637.1 CR596233.1 CR599504.1 L17075.1 Z22533.1
6 DOTS entries : DT.444614 DT.75104535 DT.452045 DT.95311383 DT.95163556 DT.92015392
24/160 AceView cDNA sequences (see all 160
):AA296280 CR596233 BX105121 BU739570 CD367285 BU633341 BI523915 AI672874 BM978185 AI973089 BU683521 AI799845 CR599504 BM717681 BX460313 AI247327 CD367529 AI804689 BM726875 AW205372 AA913553 AA359616 BM712769 BM713543
highest scoring ESTs for ACVRL1 :L17075 Z22533 AA723594 AA902673 AI247327 AI417883 AI420640 AI420822 AI474440 AI659369
Unigene Cluster for ACVRL1: Activin A receptor type II-like 1 Hs.591026 [show with all ESTs ] Unigene Representative Sequence: NM_000020 GeneLoc Exon Structure 4 Alternative Splicing Database (ASD) splice patterns (SP) for ACVRL1 ExUns: 1a · 1b ^ 2a · 2b · 2c ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 SP1 :     -   -                             SP2 :                                   SP3 :     -   -       -   -   -   -   -   -             SP4 :               -   -                  
About this scheme ECgene alternative splicing isoforms for ACVRL1 2 Ensembl transcripts including schematic representations : ENST00000267008
ENST00000388922
Expression for ACVRL1
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Expression Assays from
Applied Biosystems
)
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ACVRL1 expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for ACVRL1 1 / 2 / 3
9 probe-sets matching ACVRL1 gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: GTTAAATCCTSOURCE GeneReport for Unigene cluster: Hs.591026 Expression variation in blood from EXPOLDB for ACVRL1
Orthologs for ACVRL1
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for ACVRL1 gene from 5/9 species (see all 9
)
About this table Species with no ortholog for ACVRL1 ENSEMBL Gene Tree for ACVRL1 Paralogs for ACVRL1 (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for ACVRL1 gene ACVR1 2
SNPs/Variants for ACVRL1 (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for ACVRL1 (up to first 250kb)
Disorders & Mutations for ACVRL1
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
Novoseek , PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
HGMD, GAD ,
HuGE Navigator ,
BCGD ,
and/or TGDB .)
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OMIM: 601284 disorders : 600376 UniProtKB/Swiss-Prot: ACVL1_HUMAN, P37023
Defects in ACVRL1 are the cause of hereditary hemorrhagic telangiectasia type 2 (HHT2)[MIM:600376]; also known as Osler-Rendu-Weber syndrome 2 (ORW2). HHT2 is an autosomal dominantmultisystemic vascular dysplasia, characterized by recurrent epistaxis, muco-cutaneoustelangiectases, gastro-intestinal hemorrhage, and pulmonary, cerebral and hepatic arteriovenousmalformations; all secondary manifestations of the underlying vascular dysplasia
10/30 Novoseek disease relationships for ACVRL1 gene (see all 30
)
Disease
Score
Articles
PubMed IDs for Articles with Shared Sentences (# sentences)
telangiectasia hereditary hemorrhagic
96.95
100
11484689 (3), 10767348 (2), 16861286 (2), 16470589 (2) (see all 55 )
telangiectasia
92.22
37
15065824 (2), 14684682 (2), 11773580 (1), 16059938 (1) (see all 20 )
arteriovenous malformations
86.37
22
16470787 (2), 11773580 (1), 16059938 (1), 16762882 (1) (see all 14 )
anaplastic large cell lymphoma
74.76
3
12218210 (1), 12657933 (1), 11266530 (1)
angiodysplasia
66.62
6
10187774 (1), 16429404 (1), 19205515 (1)
dysplasia
66.12
17
16059938 (1), 16595794 (1), 10749981 (1), 15065824 (1) (see all 11 )
primary pulmonary hypertension
63.56
3
11869166 (1), 15065824 (1), 11484689 (1)
lymphomatoid papulosis
62.24
1
17484779 (1)
polyposis
60.04
2
16705692 (1), 16690726 (1)
vascular diseases
59.48
32
14684682 (2), 12667943 (1), 15385967 (1), 18673552 (1) (see all 14 )
About this table GeneTests: ACVRL1 Hereditary Hemorrhagic Telangiectasia Human Gene Mutation Database : ACVRL1 Genetic Association Database: ACVRL1 Human Genome Epidemiology Navigator: ACVRL1 (11 documents)
Medical News for ACVRL1 (Possibly Related Articles in
Doctor's Guide )
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Publications for ACVRL1 (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/204 PubMed articles for ACVRL1 gene (see all 204
): Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2. (PubMed id 8640225) 1, 2, 3, 4 Johnson D.W....Marchuk D.A. (1996) Activin receptor-like kinases: a novel subclass of cell-surface receptors with predicted serine/threonine kinase activity. (PubMed id 8397373) 1, 2, 3, 4 ten Dijke P.... Miyazono K. (1993) Analysis of ALK-1 and endoglin in newborns from families with hereditary hemorrhagic telangiectasia type 2. (PubMed id 10767348) 1, 3, 4 Abdalla S.A.... Letarte M. (2000) Hepatic manifestation is associated with ALK1 in hereditary hemorrhagic telangiectasia: identification of five novel ALK1 and one novel ENG mutations. (PubMed id 15712270) 1, 3, 4 Kuehl H.K.A.... Stuhrmann M. (2005) Novel missense and frameshift mutations in the activin receptor-like kinase-1 gene in hereditary hemorrhagic telangiectasia. (PubMed id 10694922) 1, 3, 4 Klaus D.J.... Marchuk D.A. (1998) Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia. (PubMed id 14684682) 1, 3, 4 Harrison R.E.... Trembath R.C. (2003) The activin receptor-like kinase 1 gene: genomic structure and mutations in hereditary hemorrhagic telangiectasia type 2. (PubMed id 9245985) 1, 3, 4 Berg J.N.... Marchuk D.A. (1997) Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France. (PubMed id 15024723) 1, 3, 4 Lesca G.... Giraud S. (2004) Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia. (PubMed id 11484689) 1, 3, 4 Trembath R.C.... Morrell N.W. (2001) Hereditary haemorrhagic telangiectasia: a questionnaire based study to delineate the different phenotypes caused by endoglin and ALK1 mutations. (PubMed id 12920067) 1, 3, 6 Berg J....Guttmacher A. (2003)
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Genome Databases showing ACVRL1
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing ACVRL1
(According to HUGE )
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Specialized Databases showing ACVRL1 (According to ATLAS , HORDE , IMGT , MTDB, LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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-- Services for ACVRL1 (Reagents available from Applied Biosystems , Antibodies and assays by Cell
Signaling Technology , Abcam , Novus Biologicals ,Sigma-Aldrich , R&D Systems , Millipore , Abnova , and/or Invitrogen , Clones available from OriGene ,and/or Invitrogen , Drugs and/or compounds by Sigma-Aldrich , Enzo Life Sciences , and/or Tocris Bioscience )About This Section
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Aliases for ACVRL1
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GeneCards Homepage - Last full update: 1 Jul 2009
Incremental update: 13 Oct 2009