| Tag | Content |
|---|---|
| Uniprot ID | Q04771 |
| Entrez ID | 90 |
| Genbank protein ID | CAA80256.1; AAA36614.1; AAH33867.1; |
| Genbank nucleotide ID | NM_001347666.1; XM_006712825.3; XM_011512108.2; NM_001347665.1; NM_001347664.1; NM_001105.4; NM_001111067.2; NM_001347663.1; NM_001347667.1; |
| Ensembl protein ID | ENSP00000500109; ENSP00000400767; ENSP00000405004; ENSP00000263640; ENSP00000387127; ENSP00000387273; ENSP00000440091; ENSP00000500605; |
| Ensembl nucleotide ID | ENSG00000115170 |
| Gene name | Activin receptor type-1 |
| Gene symbol | ACVR1 |
| Organism | Homo sapiens |
| NCBI taxa ID | 9606 |
| Cleft type | |
| Developmental stage | |
| Data sources | Homology search |
| Reference | |
| 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 for left-right pattern formation during embryogenesis (By similarity). |
| Sequence | MVDGVMILPV LIMIALPSPS MEDEKPKVNP KLYMCVCEGL SCGNEDHCEG QQCFSSLSIN 60 DGFHVYQKGC FQVYEQGKMT CKTPPSPGQA VECCQGDWCN RNITAQLPTK GKSFPGTQNF 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.