Atlas of Genetics and Cytogenetics in Oncology and Haematology


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ACVRL1 (activin A receptor type II-like 1)

Identity

Other namesACVRLK1
ALK-1
ALK1
HHT
HHT2
ORW2
SKR3
TSR-I
HGNC (Hugo) ACVRL1
LocusID (NCBI) 94
Location 12q13.13
Location_base_pair Starts at 52301202 and ends at 52317145 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)ACVRL1   175
Cards
Entrez_Gene (NCBI)ACVRL1  94  activin A receptor type II-like 1
GeneCards (Weizmann)ACVRL1
Ensembl (Hinxton)ENSG00000139567 [Gene_View]  chr12:52301202-52317145 [Contig_View]  ACVRL1 [Vega]
ICGC DataPortalENSG00000139567
AceView (NCBI)ACVRL1
Genatlas (Paris)ACVRL1
WikiGenes94
SOURCE (Princeton)NM_000020 NM_001077401
Genomic and cartography
GoldenPath (UCSC)ACVRL1  -  12q13.13   chr12:52301202-52317145 +  12q13.13   [Description]    (hg19-Feb_2009)
EnsemblACVRL1 - 12q13.13 [CytoView]
Mapping of homologs : NCBIACVRL1 [Mapview]
OMIM600376   601284   
Gene and transcription
Genbank (Entrez)AK056725 AK298493 AK300619 AK303331 BC042637
RefSeq transcript (Entrez)NM_000020 NM_001077401
RefSeq genomic (Entrez)AC_000144 NC_000012 NC_018923 NG_009549 NT_029419 NW_001838057 NW_004929384
Consensus coding sequences : CCDS (NCBI)ACVRL1
Cluster EST : UnigeneHs.591026 [ NCBI ]
CGAP (NCI)Hs.591026
Alternative Splicing : Fast-db (Paris)GSHG0006669
Alternative Splicing GalleryENSG00000139567
Gene ExpressionACVRL1 [ NCBI-GEO ]     ACVRL1 [ SEEK ]   ACVRL1 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP37023 (Uniprot)
NextProtP37023  [Medical]
With graphics : InterProP37023
Splice isoforms : SwissVarP37023 (Swissvar)
Catalytic activity : Enzyme2.7.11.30 [ Enzyme-Expasy ]   2.7.11.302.7.11.30 [ IntEnz-EBI ]   2.7.11.30 [ BRENDA ]   2.7.11.30 [ KEGG ]   
Domaine pattern : Prosite (Expaxy)GS (PS51256)    PROTEIN_KINASE_ATP (PS00107)    PROTEIN_KINASE_DOM (PS50011)    PROTEIN_KINASE_ST (PS00108)   
Domains : Interpro (EBI)Activin_rcpt    Kinase-like_dom    Prot_kinase_dom    Protein_kinase_ATP_BS    Ser/Thr_kinase_AS    TGF_beta_rcpt_GS    TGFB_receptor   
Related proteins : CluSTrP37023
Domain families : Pfam (Sanger)Activin_recp (PF01064)    Pkinase (PF00069)    TGF_beta_GS (PF08515)   
Domain families : Pfam (NCBI)pfam01064    pfam00069    pfam08515   
Domain families : Smart (EMBL)GS (SM00467)  
DMDM Disease mutations94
Blocks (Seattle)P37023
PDB (SRS)2LCR    3MY0    4FAO   
PDB (PDBSum)2LCR    3MY0    4FAO   
PDB (IMB)2LCR    3MY0    4FAO   
PDB (RSDB)2LCR    3MY0    4FAO   
Human Protein AtlasENSG00000139567 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasP37023
HPRD03181
IPIIPI01013348   IPI01021561   IPI01022365   IPI00784262   
Protein Interaction databases
DIP (DOE-UCLA)P37023
IntAct (EBI)P37023
FunCoupENSG00000139567
BioGRIDACVRL1
InParanoidP37023
Interologous Interaction database P37023
IntegromeDBACVRL1
STRING (EMBL)ACVRL1
Ontologies - Pathways
Ontology : AmiGOangiogenesis  in utero embryonic development  regulation of endothelial cell proliferation  negative regulation of endothelial cell proliferation  positive regulation of endothelial cell proliferation  lymphangiogenesis  blood vessel maturation  blood vessel remodeling  blood vessel endothelial cell proliferation involved in sprouting angiogenesis  protein serine/threonine kinase activity  transmembrane receptor protein serine/threonine kinase activity  receptor signaling protein serine/threonine kinase activity  transforming growth factor beta-activated receptor activity  transforming growth factor beta receptor activity, type I  protein binding  ATP binding  integral to plasma membrane  regulation of DNA replication  regulation of transcription, DNA-dependent  protein phosphorylation  negative regulation of cell adhesion  signal transduction  transforming growth factor beta receptor signaling pathway  blood circulation  regulation of blood pressure  negative regulation of cell proliferation  cell surface  negative regulation of endothelial cell migration  positive regulation of pathway-restricted SMAD protein phosphorylation  activin receptor activity, type I  activin receptor activity, type I  protein kinase binding  negative regulation of cell growth  negative regulation of cell migration  dendrite  BMP signaling pathway  positive regulation of BMP signaling pathway  positive regulation of chondrocyte differentiation  wound healing, spreading of epidermal cells  neuronal cell body  regulation of blood vessel endothelial cell migration  negative regulation of blood vessel endothelial cell migration  negative regulation of endothelial cell differentiation  positive regulation of endothelial cell differentiation  positive regulation of transcription, DNA-dependent  positive regulation of transcription from RNA polymerase II promoter  SMAD binding  metal ion binding  activin binding  transforming growth factor beta binding  protein heterooligomerization  negative regulation of focal adhesion assembly  lymphatic endothelial cell differentiation  artery development  venous blood vessel development  endothelial tube morphogenesis  retina vasculature development in camera-type eye  cellular response to transforming growth factor beta stimulus  cellular response to BMP stimulus  negative regulation of DNA biosynthetic process  
Ontology : EGO-EBIangiogenesis  in utero embryonic development  regulation of endothelial cell proliferation  negative regulation of endothelial cell proliferation  positive regulation of endothelial cell proliferation  lymphangiogenesis  blood vessel maturation  blood vessel remodeling  blood vessel endothelial cell proliferation involved in sprouting angiogenesis  protein serine/threonine kinase activity  transmembrane receptor protein serine/threonine kinase activity  receptor signaling protein serine/threonine kinase activity  transforming growth factor beta-activated receptor activity  transforming growth factor beta receptor activity, type I  protein binding  ATP binding  integral to plasma membrane  regulation of DNA replication  regulation of transcription, DNA-dependent  protein phosphorylation  negative regulation of cell adhesion  signal transduction  transforming growth factor beta receptor signaling pathway  blood circulation  regulation of blood pressure  negative regulation of cell proliferation  cell surface  negative regulation of endothelial cell migration  positive regulation of pathway-restricted SMAD protein phosphorylation  activin receptor activity, type I  activin receptor activity, type I  protein kinase binding  negative regulation of cell growth  negative regulation of cell migration  dendrite  BMP signaling pathway  positive regulation of BMP signaling pathway  positive regulation of chondrocyte differentiation  wound healing, spreading of epidermal cells  neuronal cell body  regulation of blood vessel endothelial cell migration  negative regulation of blood vessel endothelial cell migration  negative regulation of endothelial cell differentiation  positive regulation of endothelial cell differentiation  positive regulation of transcription, DNA-dependent  positive regulation of transcription from RNA polymerase II promoter  SMAD binding  metal ion binding  activin binding  transforming growth factor beta binding  protein heterooligomerization  negative regulation of focal adhesion assembly  lymphatic endothelial cell differentiation  artery development  venous blood vessel development  endothelial tube morphogenesis  retina vasculature development in camera-type eye  cellular response to transforming growth factor beta stimulus  cellular response to BMP stimulus  negative regulation of DNA biosynthetic process  
Protein Interaction DatabaseACVRL1
Wikipedia pathwaysACVRL1
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)ACVRL1
SNP (GeneSNP Utah)ACVRL1
SNP : HGBaseACVRL1
Genetic variants : HAPMAPACVRL1
1000_GenomesACVRL1 
ICGC programENSG00000139567 
Somatic Mutations in Cancer : COSMICACVRL1 
CONAN: Copy Number AnalysisACVRL1 
Mutations and Diseases : HGMDACVRL1
OMIM600376    601284   
MedgenACVRL1
GENETestsACVRL1
Disease Genetic AssociationACVRL1
Huge Navigator ACVRL1 [HugePedia]  ACVRL1 [HugeCancerGEM]
Genomic VariantsACVRL1  ACVRL1 [DGVbeta]
Exome VariantACVRL1
dbVarACVRL1
ClinVarACVRL1
snp3D : Map Gene to Disease94
General knowledge
Homologs : HomoloGeneACVRL1
Homology/Alignments : Family Browser (UCSC)ACVRL1
Phylogenetic Trees/Animal Genes : TreeFamACVRL1
Chemical/Protein Interactions : CTD94
Chemical/Pharm GKB GenePA24496
Clinical trialACVRL1
Cancer Resource (Charite)ENSG00000139567
Other databases
Probes
Litterature
PubMed118 Pubmed reference(s) in Entrez
CoreMineACVRL1
iHOPACVRL1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Jun 21 13:24:54 CEST 2014

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