• Gene id: 139285

Gene Summary

• Gene Symbol: AMER1   Gene   UCSC   Ensembl
• Aliases: FAM123B, OSCS, WTX
• Gene name: APC membrane recruitment protein 1
• Alternate names: APC membrane recruitment protein 1, RP11-403E24.2, Wilms tumor gene on the X chromosome protein, Wilms tumor on the X, adenomatous polyposis coli membrane recruitment 1, family with sequence similarity 123B, protein FAM123B,
• Gene location: Xq11.2 (64205707: 64185116)     Exons: 2     NC_000023.11
• Gene summary(Entrez): 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

Protein Summary

• Protein general information: Q5JTC6  
  • Name: APC membrane recruitment protein 1 (Amer1) (Protein FAM123B) (Wilms tumor gene on the X chromosome protein)
  • Length: 1135  
  • Mass: 124029
  • Tissue specificity: Detected in fetal and adult kidney, brain and spleen. {ECO
• Sequence:

  METQKDEAAQAKGAAASGSTREQTAEKGAKNKAAEATEGPTSEPSSSGPGRLKKTAMKLFGGKKGICTLPSFFGG
  GRSKGSGKGSSKKGLSKSKTHDGLSEAAHGPEDVVSEGTGFSLPLPELPCQFPSSQSAHGALETGSRCKTSVAGA
  TEKAVAEKFPSMPKPKKGLKGFFSSIRRHRKSKVTGAEQSEPGAKGPERVRARPHEHVSSAPQVPCFEETFQAPR
  KENANPQDAPGPKVSPTPEPSPPATEKMACKDPEKPMEACASAHVQPKPAPEASSLEEPHSPETGEKVVAGEVNP
  PNGPVGDPLSLLFGDVTSLKSFDSLTGCGDIIAEQDMDSMTDSMASGGQRANRDGTKRSSCLVTYQGGGEEMALP
  DDDDEEEEEEEEVELEEEEEEVKEEEEDDDLEYLWETAQMYPRPNMNLGYHPTTSPGHHGYMLLDPVRSYPGLAP
  GELLTPQSDQQESAPNSDEGYYDSTTPGFEDDSGEALGLVRRDCLPRDSYSGDALYEFYEPDDSLENSPPGDDCL
  YDLHGRSSEMFDPFLNFEPFLSSRPPGAMETEEERLVTIQKQLLYWELRREQLEAQEARAREAHAREAHAREAYT
  REAYGREAYAREAHTWEAHGREARTREAQAREVRCRETQVRETQARQEKPVLEYQMRPLGPSVMGLAAGVSGTSQ
  ISHRGITSAFPTTASSEPDWRDFRPLEKRYEGTCSKKDQSTCLMQLFQSDAMFEPDMQEANFGGSPRRAYPTYSP
  PEDPEEEEVEKEGNATVSFSQALVEFTSNGNLFSSMSCSSDSDSSFTQNLPELPPMVTFDIADVERDGEGKCEEN
  PEFHNDEDLAASLEAFELGYYHKHAFNNYHSRFYQGLPWGVSSLPRYLGLPGLHPRPPPAAMALNRRSRSLDTAE
  TLEMELSNSHLVQGYLESDELQAQQEDSDEEDEEEEEGEWSRDSPLSLYTEPPGAYDWPAWAPCPLPVGPGPAWI
  SPNQLDRPSSQSPYRQATCCIPPMTMSISLSVPESRAPGESGPQLARPSHLHLPMGPCYNLQPQASQSMRARPRD
  VLLPVDEPSCSSSSGGFSPSPLPQAKPVGITHGIPQLPRVRPEHPQPQPTHYGPSSLDLSKERAEQGASLATSYS
  STAMNGNLAK

• Structural information:
  • Interpro: IPR019003  
  • PDB: 4YJE 4YJL 4YK6
  • PDBsum: 4YJE 4YJL 4YK6
  • STRING: ENSP00000329117
• Other Databases: GeneCards:  AMER1  Malacards:  AMER1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1904713	beta-catenin destruction complex binding	IPI	molecular function
GO:1903364	positive regulation of cellular protein catabolic process	IDA	biological process
GO:0008013	beta-catenin binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0031398	positive regulation of protein ubiquitination	IDA	biological process
GO:0090090	negative regulation of canonical Wnt signaling pathway	IGI	biological process
GO:0008013	beta-catenin binding	IBA	molecular function
GO:0060828	regulation of canonical Wnt signaling pathway	IBA	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0005546	phosphatidylinositol-4,5-bisphosphate binding	IBA	molecular function
GO:0008013	beta-catenin binding	IDA	molecular function
GO:0005886	plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005546	phosphatidylinositol-4,5-bisphosphate binding	IDA	molecular function
GO:0090263	positive regulation of canonical Wnt signaling pathway	IMP	biological process
GO:0090090	negative regulation of canonical Wnt signaling pathway	IMP	biological process
GO:0060828	regulation of canonical Wnt signaling pathway	IMP	biological process
GO:0005546	phosphatidylinositol-4,5-bisphosphate binding	IMP	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0008289	lipid binding	IEA	molecular function
GO:0016055	Wnt signaling pathway	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0016055	Wnt signaling pathway	TAS	biological process
GO:1904885	beta-catenin destruction complex assembly	TAS	biological process
GO:1904886	beta-catenin destruction complex disassembly	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0001822	kidney development	IEA	biological process
GO:0060612	adipose tissue development	IEA	biological process
GO:0072161	mesenchymal cell differentiation involved in kidney development	IEA	biological process
GO:0060348	bone development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0016604	nuclear body	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component

Diseases

Associated diseases	References
Nephroblastoma	KEGG:H02301
Osteopathia striata with cranial sclerosis	KEGG:H00444
Nephroblastoma	KEGG:H02301
Osteopathia striata with cranial sclerosis	KEGG:H00444
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881