| Tag | Content |
|---|---|
| Uniprot ID | P37172; Q3UDH5; Q91VF1; |
| Entrez ID | 11477 |
| Genbank protein ID | AAA40495.1; BAE29286.1; BAE29239.1; AAK56116.1; AAH58718.1; AAK56115.1; |
| Genbank nucleotide ID | NM_001110204.1; NM_007394.3; XM_017315006.1; NM_001110205.1; XM_006497622.3; XM_017315005.1; |
| Ensembl protein ID | ENSMUSP00000108218; ENSMUSP00000108220; ENSMUSP00000056784; ENSMUSP00000088453; |
| Ensembl nucleotide ID | ENSMUSG00000026836 |
| Gene name | Activin receptor type-1 |
| Gene symbol | Acvr1 |
| Organism | Mus musculus |
| NCBI taxa ID | 10090 |
| Cleft type | CPO |
| Developmental stage | |
| Data sources | Manually collected |
| Reference | 15037318; 26116174; |
| Functional description | 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. Receptor for activin. May be involved in left-right pattern formation during embryogenesis. |
| Sequence | MVDGVMILPV LMMMAFPSPS VEDEKPKVNQ KLYMCVCEGL SCGNEDHCEG QQCFSSLSIN 60 DGFHVYQKGC FQVYEQGKMT CKTPPSPGQA VECCQGDWCN RNITAQLPTK GKSFPGTQNF 120 HLEVGLIILS VVFAVCLLAC ILGVALRKFK RRNQERLNPR DVEYGTIEGL ITTNVGDSTL 180 AELLDHSCTS GSGSGLPFLV QRTVARQITL LECVGKGRYG EVWRGSWQGE NVAVKIFSSR 240 DEKSWFRETE LYNTVMLRHE NILGFIASDM TSRHSSTQLW LITHYHEMGS LYDYLQLTTL 300 DTVSCLRIVL SIASGLAHLH IEIFGTQGKS AIAHRDLKSK NILVKKNGQC CIADLGLAVM 360 HSQSTNQLDV GNNPRVGTKR YMAPEVLDET IQVDCFDSYK RVDIWAFGLV LWEVARRMVS 420 NGIVEDYKPP FYDVVPNDPS FEDMRKVVCV DQQRPNIPNR WFSDPTLTSL AKLMKECWYQ 480 NPSARLTALR IKKTLTKIDN SLDKLKTDC 509 |
Abbreviation :
CLO : cleft lip only. CPO : cleft palate only.
CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.
| Relation | Gene symbol | Entrez ID | UniProt ID | Cleft type | Developmental stage | Species | Evidence | Details |
|---|---|---|---|---|---|---|---|---|
| 1:1 ortholog | ACVR1 | 338068 | A2VDM5 | Bos taurus | Prediction | More>> | ||
| 1:1 ortholog | ACVR1 | E2RKJ3 | Canis lupus familiaris | Prediction | More>> | |||
| 1:1 ortholog | ACVR1 | A0A452FPW1 | Capra hircus | Prediction | More>> | |||
| 1:1 ortholog | ACVR1 | 100050899 | F7B4G7 | Equus caballus | Prediction | More>> | ||
| 1:1 ortholog | ACVR1 | 90 | Q04771 | Homo sapiens | Prediction | More>> | ||
| 1:1 ortholog | Acvr1 | 11477 | P37172 | CPO | Mus musculus | Publication | More>> | |
| 1:1 ortholog | ACVR1 | A0A2I3RBB9 | Pan troglodytes | Prediction | More>> | |||
| 1:1 ortholog | ACVR1 | 100152307 | E9M2M1 | Sus scrofa | Prediction | More>> | ||
| 1:1 ortholog | ACVR1 | 100355119 | G1SHK1 | Oryctolagus cuniculus | Prediction | More>> | ||
| 1:1 ortholog | Acvr1 | 79558 | A0A0G2K2P7 | Rattus norvegicus | Prediction | More>> |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0004672 | protein kinase activity | ISO |
| GO:0004674 | protein serine/threonine kinase activity | ISO |
| GO:0004674 | protein serine/threonine kinase activity | IBA |
| GO:0005025 | transforming growth factor beta receptor activity, type I | IBA |
| GO:0005025 | transforming growth factor beta receptor activity, type I | IDA |
| GO:0005515 | protein binding | IPI |
| GO:0005524 | ATP binding | ISO |
| GO:0016361 | activin receptor activity, type I | ISO |
| GO:0016361 | activin receptor activity, type I | IDA |
| GO:0019838 | growth factor binding | IDA |
| GO:0042803 | protein homodimerization activity | ISO |
| GO:0045296 | cadherin binding | ISO |
| GO:0046332 | SMAD binding | ISO |
| GO:0046872 | metal ion binding | IEA |
| GO:0048185 | activin binding | ISO |
| GO:0048185 | activin binding | IPI |
| GO:0050431 | transforming growth factor beta binding | ISO |
| GO:0050431 | transforming growth factor beta binding | IDA |
| GO:1990782 | protein tyrosine kinase binding | ISO |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0000082 | G1/S transition of mitotic cell cycle | ISO |
| GO:0001525 | angiogenesis | IBA |
| GO:0001569 | branching involved in blood vessel morphogenesis | IMP |
| GO:0001655 | urogenital system development | ISO |
| GO:0001701 | in utero embryonic development | IMP |
| GO:0001702 | gastrulation with mouth forming second | IMP |
| GO:0001707 | mesoderm formation | IMP |
| GO:0001755 | neural crest cell migration | IMP |
| GO:0002526 | acute inflammatory response | IEP |
| GO:0003143 | embryonic heart tube morphogenesis | ISO |
| GO:0003181 | atrioventricular valve morphogenesis | IMP |
| GO:0003183 | mitral valve morphogenesis | ISO |
| GO:0003203 | endocardial cushion morphogenesis | IMP |
| GO:0003274 | endocardial cushion fusion | IMP |
| GO:0003289 | atrial septum primum morphogenesis | ISO |
| GO:0003289 | atrial septum primum morphogenesis | IMP |
| GO:0006468 | protein phosphorylation | ISO |
| GO:0006468 | protein phosphorylation | IBA |
| GO:0007179 | transforming growth factor beta receptor signaling pathway | ISO |
| GO:0007179 | transforming growth factor beta receptor signaling pathway | IDA |
| GO:0007179 | transforming growth factor beta receptor signaling pathway | TAS |
| GO:0007179 | transforming growth factor beta receptor signaling pathway | IBA |
| GO:0007281 | germ cell development | IMP |
| GO:0007368 | determination of left/right symmetry | IMP |
| GO:0007369 | gastrulation | IMP |
| GO:0007498 | mesoderm development | IMP |
| GO:0007507 | heart development | IMP |
| GO:0007507 | heart development | IBA |
| GO:0009968 | negative regulation of signal transduction | ISO |
| GO:0010862 | positive regulation of pathway-restricted SMAD protein phosphorylation | ISO |
| GO:0010862 | positive regulation of pathway-restricted SMAD protein phosphorylation | IMP |
| GO:0018107 | peptidyl-threonine phosphorylation | ISO |
| GO:0030278 | regulation of ossification | ISO |
| GO:0030335 | positive regulation of cell migration | ISO |
| GO:0030501 | positive regulation of bone mineralization | ISO |
| GO:0030509 | BMP signaling pathway | ISO |
| GO:0030509 | BMP signaling pathway | IBA |
| GO:0032924 | activin receptor signaling pathway | ISO |
| GO:0032926 | negative regulation of activin receptor signaling pathway | ISO |
| GO:0045669 | positive regulation of osteoblast differentiation | ISO |
| GO:0045893 | positive regulation of transcription, DNA-templated | ISO |
| GO:0045944 | positive regulation of transcription by RNA polymerase II | ISO |
| GO:0045944 | positive regulation of transcription by RNA polymerase II | IMP |
| GO:0050731 | positive regulation of peptidyl-tyrosine phosphorylation | ISO |
| GO:0051145 | smooth muscle cell differentiation | IMP |
| GO:0060037 | pharyngeal system development | IMP |
| GO:0060389 | pathway-restricted SMAD protein phosphorylation | ISO |
| GO:0060412 | ventricular septum morphogenesis | IMP |
| GO:0060923 | cardiac muscle cell fate commitment | ISO |
| GO:0061312 | BMP signaling pathway involved in heart development | IMP |
| GO:0061445 | endocardial cushion cell fate commitment | ISO |
| GO:0071363 | cellular response to growth factor stimulus | IBA |
| GO:0071773 | cellular response to BMP stimulus | ISO |
| GO:1905007 | positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation | IMP |
| GO:2000017 | positive regulation of determination of dorsal identity | ISO |
| GO:2001237 | negative regulation of extrinsic apoptotic signaling pathway | ISO |
| GO:0003148 | outflow tract septum morphogenesis | IMP |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0005886 | plasma membrane | IBA |
| GO:0005887 | integral component of plasma membrane | ISO |
| GO:0005887 | integral component of plasma membrane | IDA |
| GO:0043235 | receptor complex | IBA |
| GO:0045177 | apical part of cell | IDA |
| GO:0048179 | activin receptor complex | ISO |
| GO:0070724 | BMP receptor complex | IBA |
| Reactome ID | Reactome Term | Evidence |
|---|
| Keyword ID | Keyword Term |
|---|---|
| KW-0067 | ATP-binding |
| KW-0325 | Glycoprotein |
| KW-0418 | Kinase |
| KW-0460 | Magnesium |
| KW-0464 | Manganese |
| KW-0472 | Membrane |
| KW-0479 | Metal-binding |
| KW-0547 | Nucleotide-binding |
| KW-0597 | Phosphoprotein |
| KW-0675 | Receptor |
| KW-1185 | Reference proteome |
| KW-0723 | Serine/threonine-protein kinase |
| KW-0732 | Signal |
| KW-0808 | Transferase |
| KW-0812 | Transmembrane |
| KW-1133 | Transmembrane helix |