| Tag | Content |
|---|---|
| Uniprot ID | G1SHK1 |
| Entrez ID | 100355119 |
| Genbank protein ID | |
| Genbank nucleotide ID | XM_002712196.3; XM_017342862.1; |
| Ensembl protein ID | ENSOCUP00000002109 |
| Ensembl nucleotide ID | ENSOCUG00000002439 |
| Gene name | Serine/threonine-protein kinase receptor |
| Gene symbol | ACVR1 |
| Organism | Oryctolagus cuniculus |
| NCBI taxa ID | 9986 |
| Cleft type | |
| Developmental stage | |
| Data sources | Homology search |
| Reference | |
| Functional description | |
| Sequence | MVDGVMILPV LMMIAFPSPS MEDEKPKVNH KLYMCVCEGL SCGSEDHCEG QQCFSSLSIN 60 DGFHVYQKGC FQVYEQGKMT CKTPPSPGQA VECCQGDWCN RNITAQLPTK GKSFSGTQNF 120 HLEVGLIILS VVFAVCLLAC LLGVALRKFK RRNQERLNPR DVEYGTIEGL ITTNVGDSTL 180 ADLLDHSCTS GSGSGLPFLV QRTVARQITL LECVGKGRYG EVWRGSWQGE NVAVKIFSSR 240 DEKSWFRETE LYNTVMLRHE NILGFIASDM TSRHSSTQLW LITHYHEMGS LYDYLQLTTL 300 DTVSCLRIVL SIASGLAHLH IEIFGTQGKP 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 |
|---|---|
| GO:0048179 | activin receptor complex |
| GO:0045177 | apical part of cell |
| GO:0048185 | activin binding |
| GO:0016361 | activin receptor activity, type I |
| GO:0005524 | ATP binding |
| GO:0045296 | cadherin binding |
| GO:0046872 | metal ion binding |
| GO:0042803 | protein homodimerization activity |
| GO:1990782 | protein tyrosine kinase binding |
| GO:0046332 | SMAD binding |
| GO:0050431 | transforming growth factor beta binding |
| GO:0005025 | transforming growth factor beta receptor activity, type I |
| GO:0002526 | acute inflammatory response |
| GO:0003289 | atrial septum primum morphogenesis |
| GO:0061312 | BMP signaling pathway involved in heart development |
| GO:0001569 | branching involved in blood vessel morphogenesis |
| GO:0060923 | cardiac muscle cell fate commitment |
| GO:0007368 | determination of left/right symmetry |
| GO:0003143 | embryonic heart tube morphogenesis |
| GO:0061445 | endocardial cushion cell fate commitment |
| GO:0003274 | endocardial cushion fusion |
| GO:0000082 | G1/S transition of mitotic cell cycle |
| GO:0001702 | gastrulation with mouth forming second |
| GO:0007281 | germ cell development |
| GO:0001701 | in utero embryonic development |
| GO:0001707 | mesoderm formation |
| GO:0003183 | mitral valve morphogenesis |
| GO:0032926 | negative regulation of activin receptor signaling pathway |
| GO:2001237 | negative regulation of extrinsic apoptotic signaling pathway |
| GO:0001755 | neural crest cell migration |
| GO:0060389 | pathway-restricted SMAD protein phosphorylation |
| GO:0018107 | peptidyl-threonine phosphorylation |
| GO:0060037 | pharyngeal system development |
| GO:0030501 | positive regulation of bone mineralization |
| GO:0030335 | positive regulation of cell migration |
| GO:2000017 | positive regulation of determination of dorsal identity |
| GO:1905007 | positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation |
| GO:0045669 | positive regulation of osteoblast differentiation |
| GO:0010862 | positive regulation of pathway-restricted SMAD protein phosphorylation |
| GO:0050731 | positive regulation of peptidyl-tyrosine phosphorylation |
| GO:0045944 | positive regulation of transcription by RNA polymerase II |
| GO:0051145 | smooth muscle cell differentiation |
| GO:0007179 | transforming growth factor beta receptor signaling pathway |
| GO:0060412 | ventricular septum morphogenesis |
| Keyword ID | Keyword Term |
|---|---|
| KW-0067 | ATP-binding |
| KW-0418 | Kinase |
| KW-0460 | Magnesium |
| KW-0464 | Manganese |
| KW-0472 | Membrane |
| KW-0479 | Metal-binding |
| KW-0547 | Nucleotide-binding |
| 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 |