Atlas of Genetics and Cytogenetics in Oncology and Haematology


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ACVR1B (activin A receptor, type IB)

Identity

Other namesACTRIB
ACVRLK4
ALK4
SKR2
HGNC (Hugo) ACVR1B
LocusID (NCBI) 91
Location 12q13.13
Location_base_pair Starts at 52345451 and ends at 52390863 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)ACVR1B   172
Entrez_Gene (NCBI)ACVR1B  91  activin A receptor, type IB
Cards
GeneCards (Weizmann)ACVR1B
Ensembl (Hinxton)ENSG00000135503 [Gene_View]  chr12:52345451-52390863 [Contig_View]  ACVR1B [Vega]
AceView (NCBI)ACVR1B
Genatlas (Paris)ACVR1B
SOURCE (Stanford)NM_004302 NM_020327 NM_020328
Genomic and cartography
GoldenPath (UCSC)ACVR1B  -  12q13.13   chr12:52345451-52390863 +  12q13.13   [Description]    (hg19-Feb_2009)
EnsemblACVR1B - 12q13.13 [CytoView]
Mapping of homologs : NCBIACVR1B [Mapview]
OMIM601300   
Gene and transcription
Genbank (Entrez)AK299120 AK299496 AL117643 BC000254 BC034008
RefSeq transcript (SRS)NM_004302 NM_020327 NM_020328
RefSeq transcript (Entrez)NM_004302 NM_020327 NM_020328
RefSeq genomic (SRS)AC_000144 NC_000012 NC_018923 NG_022926 NT_029419 NW_001838057 NW_004078075
RefSeq genomic (Entrez)AC_000144 NC_000012 NC_018923 NG_022926 NT_029419 NW_001838057 NW_004078075
Consensus coding sequences : CCDS (NCBI)ACVR1B
Cluster EST : UnigeneHs.438918 [ SRS ] Hs.438918 [ NCBI ]
CGAP (NCI)Hs.438918
Alternative Splicing : Fast-db (Paris)GSHG0006671
Alternative Splicing GalleryENSG00000135503
Gene ExpressionACVR1B [ NCBI-GEO ]   ACVR1B [ EBI - ARRAY_EXPRESS ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP36896 (SRS) P36896 (Uniprot)
NextProtP36896
With graphics : InterProP36896
Splice isoforms : SwissVarP36896(Swissvar)
Domaine pattern : Prosite (SRS)GS (PS51256)    PROTEIN_KINASE_ATP (PS00107)    PROTEIN_KINASE_DOM (PS50011)    PROTEIN_KINASE_ST (PS00108)   
Domaine pattern : Prosite (Expaxy)GS (PS51256)    PROTEIN_KINASE_ATP (PS00107)    PROTEIN_KINASE_DOM (PS50011)    PROTEIN_KINASE_ST (PS00108)   
Domains : Interpro (SRS)Activin_rcpt    Kinase-like_dom    Prot_kinase_cat_dom    Protein_kinase_ATP_BS    Ser/Thr_kinase_AS    TGF_beta_rcpt_GS   
Domains : Interpro (EBI)Activin_rcpt    Kinase-like_dom    Prot_kinase_cat_dom    Protein_kinase_ATP_BS    Ser/Thr_kinase_AS    TGF_beta_rcpt_GS   
Related proteins : CluSTrP36896
Domain families : Pfam (SRS)Activin_recp (PF01064)    Pkinase (PF00069)    TGF_beta_GS (PF08515)   
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)  
DMDM91
Blocks (Seattle)P36896
Human Protein AtlasENSG00000135503
HPRD03193
IPIIPI00005732   IPI00218980   IPI00297220   IPI00922639   IPI01014752   IPI00793921   
Protein Interaction databases
DIP (DOE-UCLA)P36896
IntAct (EBI)P36896
FunCoupENSG00000135503
REACTOMEACVR1B
Protein Interaction Database91
BioGRIDACVR1B
InParanoidP36896
Interologous Interaction database P36896
IntegromeDBACVR1B
Polymorphism : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)ACVR1B
SNP (GeneSNP Utah)ACVR1B
SNP : HGBaseACVR1B
Genetic variants : HAPMAPACVR1B
Somatic Mutations in Cancer : COSMICACVR1B 
CONAN: Copy Number AnalysisACVR1B 
Mutations and Diseases : HGMDACVR1B
OMIM601300   
GENETests601300   
Disease Genetic AssociationACVR1B
Huge Navigator ACVR1B [HugePedia]  ACVR1B [HugeCancerGEM]
Genomic VariantsACVR1B  ACVR1B [DGVbeta]
ClinVarACVR1B
snp3D : Map Gene to Disease91
General knowledge
Homologs : HomoloGeneACVR1B
Homology/Alignments : Family Browser (UCSC)ACVR1B
Phylogenetic Trees/Animal Genes : TreeFamACVR1B
Catalytic activity : Enzyme2.7.11.30 [ Enzyme-Expasy ]   2.7.11.30 [ Enzyme-SRS ]   2.7.11.30 [ IntEnz-EBI ]   2.7.11.30 [ BRENDA ]   2.7.11.30 [ KEGG ]   
Chemical/Protein Interactions : CTD91
Chemical/Pharm GKB GenePA24493
Clinical trialACVR1B
Cancer Resource (Charite)ENSG00000135503
Ontology : AmiGOG1/S transition of mitotic cell cycle  in utero embryonic development  hair follicle development  protein serine/threonine kinase activity  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  protein binding  ATP binding  plasma membrane  integral to plasma membrane  regulation of transcription, DNA-dependent  protein phosphorylation  induction of apoptosis  signal transduction  transmembrane receptor protein serine/threonine kinase signaling pathway  central nervous system development  cell surface  positive regulation of pathway-restricted SMAD protein phosphorylation  activin receptor activity, type I  activin receptor activity, type I  activin-activated receptor activity  peptidyl-threonine phosphorylation  growth factor binding  negative regulation of cell growth  ubiquitin protein ligase binding  activin receptor signaling pathway  positive regulation of activin receptor signaling pathway  positive regulation of activin receptor signaling pathway  inhibin binding  nodal signaling pathway  positive regulation of erythrocyte differentiation  positive regulation of transcription from RNA polymerase II promoter  SMAD binding  development of primary female sexual characteristics  protein autophosphorylation  metal ion binding  activin binding  positive regulation of trophoblast cell migration  
Ontology : EGO-EBIG1/S transition of mitotic cell cycle  in utero embryonic development  hair follicle development  protein serine/threonine kinase activity  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  protein binding  ATP binding  plasma membrane  integral to plasma membrane  regulation of transcription, DNA-dependent  protein phosphorylation  induction of apoptosis  signal transduction  transmembrane receptor protein serine/threonine kinase signaling pathway  central nervous system development  cell surface  positive regulation of pathway-restricted SMAD protein phosphorylation  activin receptor activity, type I  activin receptor activity, type I  activin-activated receptor activity  peptidyl-threonine phosphorylation  growth factor binding  negative regulation of cell growth  ubiquitin protein ligase binding  activin receptor signaling pathway  positive regulation of activin receptor signaling pathway  positive regulation of activin receptor signaling pathway  inhibin binding  nodal signaling pathway  positive regulation of erythrocyte differentiation  positive regulation of transcription from RNA polymerase II promoter  SMAD binding  development of primary female sexual characteristics  protein autophosphorylation  metal ion binding  activin binding  positive regulation of trophoblast cell migration  
Pathways : KEGGColorectal cancerTGF-beta signaling pathwayMAPK signaling pathwayCytokine-cytokine receptor interactionAdherens junction
Other databases
Probes
Litterature
PubMed61 Pubmed reference(s) in Entrez
PubGeneACVR1B
iHOPACVR1B
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
Updated01-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Jun 14 17:43:03 CEST 2013

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