| Tag | Content |
|---|---|
| Uniprot ID | Q7TS75; B1AUM2; Q8BT92; Q8C7P7; |
| Entrez ID | 72345 |
| Genbank protein ID | BAC25373.1; BAC33914.1; AAH53442.1; |
| Genbank nucleotide ID | NM_175179.4 |
| Ensembl protein ID | ENSMUSP00000109502 |
| Ensembl nucleotide ID | ENSMUSG00000050332 |
| Gene name | APC membrane recruitment protein 1 |
| Gene symbol | Amer1 |
| Organism | Mus musculus |
| NCBI taxa ID | 10090 |
| Cleft type | CPO |
| Developmental stage | |
| Data sources | Manually collected |
| Reference | 29329488 |
| 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 (By similarity). |
| Sequence | MESQQDEAVQ TKGASTSSDA QDQGAEKGAK NKTTEATEGP TSEPPLSGPG RLKKTAMKLF 60 GGKKGICTLP SFFGGGRSKG SGKVSSKKSL NKSKTHDGLS EASQGPEDVV IEETDLSTPL 120 SKSSAQFPSS QSANGALEIG SKHKTSGTEA IEKAGVEKVP SVHKPKKSLK SFFSSIRRHR 180 KGKTSGADQS VPGAKELEGA RTRSHEHVSS ISLPSSEEIF RDTRKENAKP QDAPGPKMSP 240 AQVHFSPTTE KAACKNPEKL TRTCASEFMQ PKPVLEGGSL EEPHTSETEG KVVAGEVNPP 300 NGPVGDQLSL LFGDVTSLKS FDSLTGCGDI IAEQDMDSMT DSMASGGQRA NRDGTKRSSC 360 LVTYQGGGEE MALPDDDDND DEEEEEEEEE EEEEEEEEEE EEEEEEEEEL LEDEEEVKDG 420 EENDDLEYLW ASAQIYPRFN MNLGYHTAIS PSHQGYMLLD PVQSYPNLGL GELLTPQSDQ 480 QESAPNSDEG YYDSTTPGFE DDSGEALGLA HRDCLPRDSY SGDALYEFYE PDDSLEHSPP 540 GDDCLYDLRG RNSEMLDPFL NLEPFSSRPP GAMETEEERL VTIQKQLLYW ELRREQREAQ 600 EACAREAHAR EAYARDTHTR ESYGRNVRAR ETQALEAHSQ EGRVQETKVR QEKPALEYQM 660 RPLGPSVMGL VAGTSGGSQT SHRGTTSAFP ATSSSEPDWR DFRPLEKRFE GTCSKKDQST 720 CLMQLFQSDA MFEPDMQEAN FGGSPRKAYP SYSPPEEPEE EEEEKEGNAT VSFSQALVEF 780 TSNGNLFTSM SYSSDSDSSF TQNLPELPPM VTFDIADVER DGEGKCEENP EFNNDEDLTA 840 SLEAFELGYY HKHAFNSYHS RFYQGLPWGV SSLPRYLGLP GVHPRPPPAA MALNRRSRSL 900 DNAESLELEL SSSHLAQGYM ESDELQAHQE DSDEEGEEEE GEWGRDSPLS LYTEPPGVYD 960 WPPWAHCPLP VGPGLAWMSP NQLYEPFNQS SYVQATCCVP PVAMPVSVPG RTPGDSVSQL 1020 ARPSHLPLPM GPCYNLQSQA SQSGRAKPRD VLLPVDEPSC SSISGANSQS QAKPVGITHG 1080 IPQLPRVRPE PFQLQPNHYR ASNLDLSKER GEQGASLSTS YSSTAMNGNL AK 1132 |
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.
