| Tag | Content |
|---|---|
| Uniprot ID | Q5JTC6; A2IB86; Q8N885; |
| Entrez ID | 139285 |
| Genbank protein ID | ABM60755.1; BAC04964.1; |
| Genbank nucleotide ID | NM_152424.3 |
| Ensembl protein ID | ENSP00000364003 |
| Ensembl nucleotide ID | ENSG00000184675 |
| Gene name | APC membrane recruitment protein 1 |
| Gene symbol | AMER1 |
| Organism | Homo sapiens |
| NCBI taxa ID | 9606 |
| Cleft type | |
| Developmental stage | |
| Data sources | Homology search |
| Reference | |
| Functional description | Regulator of the canonical Wnt signaling pathway. Acts by specifically binding phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2), translocating to the cell membrane and interacting with key regulators of the canonical Wnt signaling pathway, such as components of the beta-catenin destruction complex. Acts both as a positive and negative regulator of the Wnt signaling pathway, depending on the context: acts as a positive regulator by promoting LRP6 phosphorylation. Also acts as a negative regulator by acting as a scaffold protein for the beta-catenin destruction complex and promoting stabilization of Axin at the cell membrane. Promotes CTNNB1 ubiquitination and degradation. Involved in kidney development. |
| Sequence | METQKDEAAQ AKGAAASGST REQTAEKGAK NKAAEATEGP TSEPSSSGPG RLKKTAMKLF 60 GGKKGICTLP SFFGGGRSKG SGKGSSKKGL SKSKTHDGLS EAAHGPEDVV SEGTGFSLPL 120 PELPCQFPSS QSAHGALETG SRCKTSVAGA TEKAVAEKFP SMPKPKKGLK GFFSSIRRHR 180 KSKVTGAEQS EPGAKGPERV RARPHEHVSS APQVPCFEET FQAPRKENAN PQDAPGPKVS 240 PTPEPSPPAT EKMACKDPEK PMEACASAHV QPKPAPEASS LEEPHSPETG EKVVAGEVNP 300 PNGPVGDPLS LLFGDVTSLK SFDSLTGCGD IIAEQDMDSM TDSMASGGQR ANRDGTKRSS 360 CLVTYQGGGE EMALPDDDDE EEEEEEEVEL EEEEEEVKEE EEDDDLEYLW ETAQMYPRPN 420 MNLGYHPTTS PGHHGYMLLD PVRSYPGLAP GELLTPQSDQ QESAPNSDEG YYDSTTPGFE 480 DDSGEALGLV RRDCLPRDSY SGDALYEFYE PDDSLENSPP GDDCLYDLHG RSSEMFDPFL 540 NFEPFLSSRP PGAMETEEER LVTIQKQLLY WELRREQLEA QEARAREAHA REAHAREAYT 600 REAYGREAYA REAHTWEAHG REARTREAQA REVRCRETQV RETQARQEKP VLEYQMRPLG 660 PSVMGLAAGV SGTSQISHRG ITSAFPTTAS SEPDWRDFRP LEKRYEGTCS KKDQSTCLMQ 720 LFQSDAMFEP DMQEANFGGS PRRAYPTYSP PEDPEEEEVE KEGNATVSFS QALVEFTSNG 780 NLFSSMSCSS DSDSSFTQNL PELPPMVTFD IADVERDGEG KCEENPEFHN DEDLAASLEA 840 FELGYYHKHA FNNYHSRFYQ GLPWGVSSLP RYLGLPGLHP RPPPAAMALN RRSRSLDTAE 900 TLEMELSNSH LVQGYLESDE LQAQQEDSDE EDEEEEEGEW SRDSPLSLYT EPPGAYDWPA 960 WAPCPLPVGP GPAWISPNQL DRPSSQSPYR QATCCIPPMT MSISLSVPES RAPGESGPQL 1020 ARPSHLHLPM GPCYNLQPQA SQSMRARPRD VLLPVDEPSC SSSSGGFSPS PLPQAKPVGI 1080 THGIPQLPRV RPEHPQPQPT HYGPSSLDLS KERAEQGASL ATSYSSTAMN GNLAK 1135 |
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.