Gene Gene information from NCBI Gene database.
Entrez ID 139285
Gene name APC membrane recruitment protein 1
Gene symbol AMER1
Synonyms (NCBI Gene)
FAM123BOSCSWTX
Chromosome X
Chromosome location Xq11.2
Summary The protein encoded by this gene upregulates trancriptional activation by the Wilms tumor protein and interacts with many other proteins, including CTNNB1, APC, AXIN1, and AXIN2. Defects in this gene are a cause of osteopathia striata with cranial scleros
SNPs SNP information provided by dbSNP.
18
SNP ID Visualize variation Clinical significance Consequence
rs137852216 G>A Pathogenic Coding sequence variant, stop gained
rs137852217 G>A,T Pathogenic Coding sequence variant, synonymous variant, stop gained
rs387906722 A>T Pathogenic Stop gained, coding sequence variant
rs387907269 G>A Pathogenic Stop gained, coding sequence variant
rs398122877 G>- Pathogenic Frameshift variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
501
miRTarBase ID miRNA Experiments Reference
MIRT020401 hsa-miR-29c-3p Sequencing 20371350
MIRT051169 hsa-miR-16-5p CLASH 23622248
MIRT042310 hsa-miR-484 CLASH 23622248
MIRT508108 hsa-miR-34b-3p HITS-CLIP 21572407
MIRT508106 hsa-miR-410-3p HITS-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
29
GO ID Ontology Definition Evidence Reference
GO:0001822 Process Kidney development IEA
GO:0005515 Function Protein binding IPI 17510365, 17925383, 21304492, 22682247, 24251807, 26496610, 33961781
GO:0005546 Function Phosphatidylinositol-4,5-bisphosphate binding IBA
GO:0005546 Function Phosphatidylinositol-4,5-bisphosphate binding IDA 21304492
GO:0005546 Function Phosphatidylinositol-4,5-bisphosphate binding IMP 17925383
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300647 26837 ENSG00000184675
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5JTC6
Protein name APC membrane recruitment protein 1 (Amer1) (Protein FAM123B) (Wilms tumor gene on the X chromosome protein)
Protein function 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,
PDB 4YJE , 4YJL , 4YK6
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF09422 WTX 89 457 WTX protein Family
PF09422 WTX 452 536 WTX protein Family
Tissue specificity TISSUE SPECIFICITY: Detected in fetal and adult kidney, brain and spleen. {ECO:0000269|PubMed:19416806}.
Sequence
METQKDEAAQAKGAAASGSTREQTAEKGAKNKAAEATEGPTSEPSSSGPGRLKKTAMKLF
GGKKGICTLPSFFGGGRSKGSGKGSSKKGLSKSKTHDGLSEAAHGPEDVVSEGTGFSLPL
PELPCQFPSSQSAHGALETGSRCKTSVAGATEKAVAEKFPSMPKPKKGLKGFFSSIRRHR
KSKVTGAEQSEPGAKGPERVRARPHEHVSSAPQVPCFEETFQAPRKENANPQDAPGPKVS
PTPEPSPPATEKMACKDPEKPMEACASAHVQPKPAPEASSLEEPHSPETGEKVVAGEVNP
PNGPVGDPLSLLFGDVTSLKSFDSLTGCGDIIAEQDMDSMTDSMASGGQRANRDGTKRSS
CLVTYQGGGEEMALPDDDDEEEEEEEEVELEEEEEEVKEEEEDDDLEYLWETAQMYPRPN
MNLGYHPTTSPGHHGYMLLDPVRSYPGLAPG
ELLTPQSDQQESAPNSDEGYYDSTTPGFE
DDSGEALGLVRRDCLPRDSYSGDALYEFYEPDDSLENSPPGDDCLYDLHGRSSEMF
DPFL
NFEPFLSSRPPGAMETEEERLVTIQKQLLYWELRREQLEAQEARAREAHAREAHAREAYT
REAYGREAYAREAHTWEAHGREARTREAQAREVRCRETQVRETQARQEKPVLEYQMRPLG
PSVMGLAAGVSGTSQISHRGITSAFPTTASSEPDWRDFRPLEKRYEGTCSKKDQSTCLMQ
LFQSDAMFEPDMQEANFGGSPRRAYPTYSPPEDPEEEEVEKEGNATVSFSQALVEFTSNG
NLFSSMSCSSDSDSSFTQNLPELPPMVTFDIADVERDGEGKCEENPEFHNDEDLAASLEA
FELGYYHKHAFNNYHSRFYQGLPWGVSSLPRYLGLPGLHPRPPPAAMALNRRSRSLDTAE
TLEMELSNSHLVQGYLESDELQAQQEDSDEEDEEEEEGEWSRDSPLSLYTEPPGAYDWPA
WAPCPLPVGPGPAWISPNQLDRPSSQSPYRQATCCIPPMTMSISLSVPESRAPGESGPQL
ARPSHLHLPMGPCYNLQPQASQSMRARPRDVLLPVDEPSCSSSSGGFSPSPLPQAKPVGI
THGIPQLPRVRPEHPQPQPTHYGPSSLDLSKERAEQGASLATSYSSTAMNGNLAK
Sequence length 1135
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Degradation of beta-catenin by the destruction complex
Beta-catenin phosphorylation cascade
Disassembly of the destruction complex and recruitment of AXIN to the membrane
Misspliced GSK3beta mutants stabilize beta-catenin
S33 mutants of beta-catenin aren't phosphorylated
S37 mutants of beta-catenin aren't phosphorylated
S45 mutants of beta-catenin aren't phosphorylated
T41 mutants of beta-catenin aren't phosphorylated
APC truncation mutants have impaired AXIN binding
AXIN missense mutants destabilize the destruction complex
Truncations of AMER1 destabilize the destruction complex
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
103
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
AMER1-related disorder Pathogenic rs137852217 RCV003398482
Cleft palate Likely pathogenic; Pathogenic rs1602067592 RCV001526571
Colorectal cancer Pathogenic; Likely pathogenic rs1930207901, rs1930230724, rs1930277434 RCV001293807
RCV001293808
RCV001293809
Neoplasm Pathogenic rs137852216 RCV004668713
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Febrile seizure (within the age range of 3 months to 6 years) Uncertain significance rs1555933313 RCV000627001
Intellectual disability Benign; Likely benign; Uncertain significance rs144896730, rs142355260, rs141789259, rs146489129 RCV005625300
RCV005625301
RCV005626594
RCV005626635
Macrocephaly Uncertain significance rs1555933313 RCV000627001
Myocarditis Uncertain significance rs1555933313 RCV000627001
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Clear Cell Associate 37697729
Adenoma Associate 26414517
Biliary Atresia Associate 34750413
Bone Diseases Developmental Associate 19757195
Breast Neoplasms Associate 28590426
Colorectal Neoplasms Associate 20696052, 26071483, 28551381, 28675510, 31243121, 37146911
Down Syndrome Associate 28590426
Drug Related Side Effects and Adverse Reactions Associate 22215675
Hydrops Fetalis Associate 33686258
Immunologic Deficiency Syndromes Associate 35460607