| Nomenclature | | HGNC (Hugo) | ACVR1 171 |
| Entrez_Gene (NCBI) | ACVR1 90 activin A receptor, type I |
| Cards | | GeneCards (Weizmann) | ACVR1 |
| Ensembl (Hinxton) | ENSG00000115170 [Gene_View] chr2:158592958-158731623 [Contig_View] ACVR1 [Vega] |
| AceView (NCBI) | ACVR1 |
| Genatlas (Paris) | ACVR1 |
| SOURCE (Stanford) | NM_001105 NM_001111067 |
| Genomic and cartography | | GoldenPath (UCSC) | ACVR1 - 2q24.1 chr2:158592958-158731623 - 2q24.1 [Description] (hg19-Feb_2009) |
| Ensembl | ACVR1 - 2q24.1 [CytoView] |
| Mapping of homologs : NCBI | ACVR1 [Mapview] |
| OMIM | 102576 135100 |
| Gene and transcription |
| Genbank (Entrez) | AK297765 AK313630 BC033867 BC036748 DA796090 |
| RefSeq transcript (SRS) | NM_001105 NM_001111067 |
| RefSeq transcript (Entrez) | NM_001105 NM_001111067 |
| RefSeq genomic (SRS) | AC_000134 NC_000002 NC_018913 NG_008004 NT_005403 NW_001838860 NW_004078008 |
| RefSeq genomic (Entrez) | AC_000134 NC_000002 NC_018913 NG_008004 NT_005403 NW_001838860 NW_004078008 |
| Consensus coding sequences : CCDS (NCBI) | ACVR1 |
| Cluster EST : Unigene | Hs.470316 [ SRS ] Hs.470316 [ NCBI ] |
| CGAP (NCI) | Hs.470316 |
| Alternative Splicing : Fast-db (Paris) | GSHG0018085 |
| Alternative Splicing Gallery | ENSG00000115170 |
| Gene Expression | ACVR1 [ NCBI-GEO ] ACVR1 [ EBI - ARRAY_EXPRESS ] |
| Protein : pattern, domain, 3D structure |
|---|
| UniProt/SwissProt | Q04771 (SRS) Q04771 (Uniprot) |
| NextProt | Q04771 |
| With graphics : InterPro | Q04771 |
| Splice isoforms : SwissVar | Q04771(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_II/TGFBeta-II_recpt 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_II/TGFBeta-II_recpt Activin_rcpt Kinase-like_dom Prot_kinase_cat_dom Protein_kinase_ATP_BS Ser/Thr_kinase_AS TGF_beta_rcpt_GS |
| Related proteins : CluSTr | Q04771 |
| 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) |
| DMDM | 90 |
| Blocks (Seattle) | Q04771 |
| PDB (SRS) | 3H9R 3MTF 3OOM 3Q4U 4DYM |
| PDB (PDBSum) | 3H9R 3MTF 3OOM 3Q4U 4DYM |
| PDB (IMB) | 3H9R 3MTF 3OOM 3Q4U 4DYM |
| PDB (RSDB) | 3H9R 3MTF 3OOM 3Q4U 4DYM |
| Human Protein Atlas | ENSG00000115170 |
| HPRD | 00021 |
| IPI | IPI00029219 IPI01011207 IPI00917815 IPI00917175 IPI00917000 |
| Protein Interaction databases |
|---|
| DIP (DOE-UCLA) | Q04771 |
| IntAct (EBI) | Q04771 |
| FunCoup | ENSG00000115170 |
| REACTOME | ACVR1 |
| Protein Interaction Database | 90 |
| BioGRID | ACVR1 |
| InParanoid | Q04771 |
| Interologous Interaction database | Q04771 |
| IntegromeDB | ACVR1 |
| Polymorphism : SNP, mutations, diseases | | SNP Single Nucleotide Polymorphism (NCBI) | ACVR1 |
| SNP (GeneSNP Utah) | ACVR1 |
| SNP : HGBase | ACVR1 |
| Genetic variants : HAPMAP | ACVR1 |
| Somatic Mutations in Cancer : COSMIC | ACVR1 |
| CONAN: Copy Number Analysis | ACVR1 |
| Mutations and Diseases : HGMD | ACVR1 |
| OMIM | 102576 135100 |
| GENETests | 102576 135100 |
| Disease Genetic Association | ACVR1 |
| Huge Navigator |
ACVR1 [HugePedia] ACVR1 [HugeCancerGEM] |
| Genomic Variants | ACVR1 ACVR1 [DGVbeta] |
| snp3D : Map Gene to Disease | 90 |
| General knowledge |
|---|
| Homologs : HomoloGene | ACVR1 |
| Homology/Alignments : Family Browser (UCSC) | ACVR1 |
| Phylogenetic Trees/Animal Genes : TreeFam | ACVR1 |
| Catalytic activity : Enzyme | 2.7.11.30 [ 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 : CTD | 90 |
| Chemical/Pharm GKB Gene | PA24492 |
| Clinical trial | ACVR1 |
| Cancer Resource (Charite) | ENSG00000115170 |
| Ontology : AmiGO | G1/S transition of mitotic cell cycle patterning of blood vessels urogenital system development in utero embryonic development gastrulation with mouth forming second mesoderm formation neural crest cell migration acute inflammatory response embryonic heart tube morphogenesis mitral valve morphogenesis atrial septum primum morphogenesis protein 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 receptor activity, type I protein binding ATP binding integral to plasma membrane protein phosphorylation transforming growth factor beta receptor signaling pathway germ cell development determination of left/right symmetry negative regulation of signal transduction positive regulation of pathway-restricted SMAD protein phosphorylation activin receptor activity, type I peptide hormone binding peptidyl-threonine phosphorylation regulation of ossification positive regulation of bone mineralization BMP signaling pathway activin receptor signaling pathway negative regulation of activin receptor signaling pathway protein homodimerization activity negative regulation of apoptotic process apical part of cell positive regulation of osteoblast differentiation positive regulation of transcription, DNA-dependent positive regulation of transcription from RNA polymerase II promoter SMAD binding metal ion binding activin receptor complex activin binding regulation of skeletal muscle tissue development transforming growth factor beta binding smooth muscle cell differentiation pharyngeal system development pathway-restricted SMAD protein phosphorylation cardiac muscle cell fate commitment endocardial cushion cell fate commitment cellular response to glucocorticoid stimulus positive regulation of determination of dorsal identity |
| Ontology : EGO-EBI | G1/S transition of mitotic cell cycle patterning of blood vessels urogenital system development in utero embryonic development gastrulation with mouth forming second mesoderm formation neural crest cell migration acute inflammatory response embryonic heart tube morphogenesis mitral valve morphogenesis atrial septum primum morphogenesis protein 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 receptor activity, type I protein binding ATP binding integral to plasma membrane protein phosphorylation transforming growth factor beta receptor signaling pathway germ cell development determination of left/right symmetry negative regulation of signal transduction positive regulation of pathway-restricted SMAD protein phosphorylation activin receptor activity, type I peptide hormone binding peptidyl-threonine phosphorylation regulation of ossification positive regulation of bone mineralization BMP signaling pathway activin receptor signaling pathway negative regulation of activin receptor signaling pathway protein homodimerization activity negative regulation of apoptotic process apical part of cell positive regulation of osteoblast differentiation positive regulation of transcription, DNA-dependent positive regulation of transcription from RNA polymerase II promoter SMAD binding metal ion binding activin receptor complex activin binding regulation of skeletal muscle tissue development transforming growth factor beta binding smooth muscle cell differentiation pharyngeal system development pathway-restricted SMAD protein phosphorylation cardiac muscle cell fate commitment endocardial cushion cell fate commitment cellular response to glucocorticoid stimulus positive regulation of determination of dorsal identity |
| Pathways : BIOCARTA | ALK in cardiac myocytes [Genes] |
| Pathways : KEGG | TGF-beta signaling pathwayCytokine-cytokine receptor interaction |
| Other databases | | Probes |
|---|
| Litterature | | PubMed | 81 Pubmed reference(s) in Entrez |
| PubGene | ACVR1 |
| iHOP | ACVR1 |
