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Aliases for AMER1 Gene

Aliases for AMER1 Gene

  • APC Membrane Recruitment Protein 1 2 3 5
  • Adenomatous Polyposis Coli Membrane Recruitment 1 2 3
  • Wilms Tumor Gene On The X Chromosome Protein 3 4
  • Family With Sequence Similarity 123B 2 3
  • Wilms Tumor On The X 2 3
  • Protein FAM123B 3 4
  • FAM123B 3 4
  • WTX 3 4
  • RP11-403E24.2 3
  • Amer1 4
  • OSCS 3

External Ids for AMER1 Gene

Previous HGNC Symbols for AMER1 Gene

  • FAM123B

Previous GeneCards Identifiers for AMER1 Gene

  • GC0XM063406

Summaries for AMER1 Gene

Entrez Gene Summary for AMER1 Gene

  • 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 sclerosis (OSCS). [provided by RefSeq, May 2010]

GeneCards Summary for AMER1 Gene

AMER1 (APC Membrane Recruitment Protein 1) is a Protein Coding gene. Diseases associated with AMER1 include osteopathia striata with cranial sclerosis and adenomatous polyposis coli. Among its related pathways are Wnt / Hedgehog / Notch and S45 mutants of beta-catenin arent phosphorylated. GO annotations related to this gene include beta-catenin binding and phosphatidylinositol-4,5-bisphosphate binding. An important paralog of this gene is AMER2.

UniProtKB/Swiss-Prot for AMER1 Gene

  • 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.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AMER1 Gene

Genomics for AMER1 Gene

Regulatory Elements for AMER1 Gene


Promoters for AMER1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around AMER1 on UCSC Golden Path with GeneCards custom track

Genomic Location for AMER1 Gene

Chromosome:
X
Start:
64,185,117 bp from pter
End:
64,206,398 bp from pter
Size:
21,282 bases
Orientation:
Minus strand

Genomic View for AMER1 Gene

Genes around AMER1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AMER1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AMER1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AMER1 Gene

Proteins for AMER1 Gene

  • Protein details for AMER1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5JTC6-AMER1_HUMAN
    Recommended name:
    APC membrane recruitment protein 1
    Protein Accession:
    Q5JTC6
    Secondary Accessions:
    • A2IB86
    • Q8N885

    Protein attributes for AMER1 Gene

    Size:
    1135 amino acids
    Molecular mass:
    124029 Da
    Quaternary structure:
    • Interacts with CTNNB1, AXIN1, LRP6, KEAP1, APC and BTRC. Interacts with SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complexes containing BTRC and/or FBXW11. Identified in the beta-catenin destruction complex containing CTNNB1, APC, AXIN1 and AXIN2. Interacts with WT1.
    Miscellaneous:
    • Inactivated in approximately one-third of Wilms tumors.

    Alternative splice isoforms for AMER1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AMER1 Gene

Proteomics data for AMER1 Gene at MOPED

Post-translational modifications for AMER1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for AMER1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for AMER1 (WTX)

No data available for DME Specific Peptides for AMER1 Gene

Domains & Families for AMER1 Gene

Protein Domains for AMER1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for AMER1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q5JTC6

UniProtKB/Swiss-Prot:

AMER1_HUMAN :
  • Belongs to the Amer family.
Family:
  • Belongs to the Amer family.
genes like me logo Genes that share domains with AMER1: view

No data available for Gene Families for AMER1 Gene

Function for AMER1 Gene

Molecular function for AMER1 Gene

UniProtKB/Swiss-Prot 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, 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.

Gene Ontology (GO) - Molecular Function for AMER1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 17510365
GO:0008013 beta-catenin binding IDA,IPI 17510365
genes like me logo Genes that share ontologies with AMER1: view
genes like me logo Genes that share phenotypes with AMER1: view

Human Phenotype Ontology for AMER1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for AMER1 Gene

MGI Knock Outs for AMER1:

Animal Model Products

CRISPR Products

miRNA for AMER1 Gene

miRTarBase miRNAs that target AMER1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for AMER1 Gene

Localization for AMER1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AMER1 Gene

Cytoplasm. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Nucleus. Note=Shuttles between nucleus and cytoplasm. Detected in nuclear paraspeckles that are found close to splicing speckles. Translocates to the cell membrane following binding to PtdIns(4,5)P2.

No data available for Subcellular locations from COMPARTMENTS and Gene Ontology (GO) - Cellular Components for AMER1 Gene

Pathways & Interactions for AMER1 Gene

genes like me logo Genes that share pathways with AMER1: view

SIGNOR curated interactions for AMER1 Gene

Activates:

Gene Ontology (GO) - Biological Process for AMER1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016055 Wnt signaling pathway IEA,TAS --
GO:0031398 positive regulation of protein ubiquitination IDA 17510365
GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process TAS --
GO:0060348 bone development IEA --
GO:0090090 negative regulation of canonical Wnt signaling pathway IMP 21498506
genes like me logo Genes that share ontologies with AMER1: view

Drugs & Compounds for AMER1 Gene

No Compound Related Data Available

Transcripts for AMER1 Gene

mRNA/cDNA for AMER1 Gene

(2) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(7) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for AMER1 Gene

APC membrane recruitment protein 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for AMER1 Gene

No ASD Table

Relevant External Links for AMER1 Gene

GeneLoc Exon Structure for
AMER1
ECgene alternative splicing isoforms for
AMER1

Expression for AMER1 Gene

mRNA expression in normal human tissues for AMER1 Gene

Protein differential expression in normal tissues from HIPED for AMER1 Gene

This gene is overexpressed in Saliva (60.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for AMER1 Gene



SOURCE GeneReport for Unigene cluster for AMER1 Gene Hs.314225

mRNA Expression by UniProt/SwissProt for AMER1 Gene

Q5JTC6-AMER1_HUMAN
Tissue specificity: Detected in fetal and adult kidney, brain and spleen.
genes like me logo Genes that share expression patterns with AMER1: view

Protein tissue co-expression partners for AMER1 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for AMER1 Gene

Orthologs for AMER1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for AMER1 Gene

Organism Taxonomy Gene Similarity Type Details
oppossum
(Monodelphis domestica)
Mammalia AMER1 36
  • 50 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Amer1 36
  • 78 (a)
OneToOne
Amer1 16
Amer1 35
  • 83.47 (n)
  • 80.65 (a)
chimpanzee
(Pan troglodytes)
Mammalia AMER1 36
  • 99 (a)
OneToOne
FAM123B 35
  • 98.77 (n)
  • 98.41 (a)
dog
(Canis familiaris)
Mammalia AMER1 36
  • 83 (a)
OneToOne
AMER1 35
  • 85.9 (n)
  • 82.58 (a)
cow
(Bos Taurus)
Mammalia AMER1 36
  • 85 (a)
OneToOne
FAM123B 35
  • 86.9 (n)
  • 84.64 (a)
rat
(Rattus norvegicus)
Mammalia Amer1 35
  • 82.75 (n)
  • 79.62 (a)
chicken
(Gallus gallus)
Aves AMER1 36
  • 35 (a)
OneToOne
FAM123B 35
  • 53.02 (n)
  • 44.15 (a)
lizard
(Anolis carolinensis)
Reptilia AMER1 36
  • 44 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.15909 35
tropical clawed frog
(Silurana tropicalis)
Amphibia amer1 35
  • 51.67 (n)
  • 42.89 (a)
zebrafish
(Danio rerio)
Actinopterygii amer1 36
  • 28 (a)
OneToOne
Species with no ortholog for AMER1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for AMER1 Gene

ENSEMBL:
Gene Tree for AMER1 (if available)
TreeFam:
Gene Tree for AMER1 (if available)

Paralogs for AMER1 Gene

Paralogs for AMER1 Gene

genes like me logo Genes that share paralogs with AMER1: view

Variants for AMER1 Gene

Sequence variations from dbSNP and Humsavar for AMER1 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
VAR_031304 -
rs34677493 - 64,192,810(-) AAGTT(G/T)CCCTC reference, missense
rs35718712 - 64,192,455(-) CTGAA(G/T)CCAGT reference, missense
rs747715726 -- 64,192,894(+) GCACT(C/G)TGAGA reference, missense
rs747727608 -- 64,186,130(+) TCCCA(C/G/T)ACGCC utr-variant-3-prime

Variation tolerance for AMER1 Gene

Residual Variation Intolerance Score: 7.84% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.02; 37.26% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AMER1 Gene

HapMap Linkage Disequilibrium report
AMER1
Human Gene Mutation Database (HGMD)
AMER1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for AMER1 Gene

Disorders for AMER1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for AMER1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
osteopathia striata with cranial sclerosis
  • osteopathia striata cranial sclerosis
adenomatous polyposis coli
  • brain tumor-polyposis syndrome 2
ovarian carcinosarcoma
  • ovarian malignant mesodermal mixed tumor
- elite association - COSMIC cancer census association via MalaCards
Search AMER1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

AMER1_HUMAN
  • Osteopathia striata with cranial sclerosis (OSCS) [MIM:300373]: An X-linked dominant sclerosing bone dysplasia that presents in females with macrocephaly, cleft palate, facial palsy, conductive hearing loss, mild learning disabilities, sclerosis of the long bones and skull. Longitudinal striations are visible on radiographs of the long bones, pelvis, and scapulae (osteopathia striata). In males this entity is usually associated with fetal or neonatal lethality. Occasional surviving males have, in addition to hyperostosis, cardiac, intestinal, and genitourinary malformations. {ECO:0000269 PubMed:19079258}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for AMER1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AMER1
genes like me logo Genes that share disorders with AMER1: view

No data available for Genatlas for AMER1 Gene

Publications for AMER1 Gene

  1. Amer1/WTX couples Wnt-induced formation of PtdIns(4,5)P2 to LRP6 phosphorylation. (PMID: 21304492) Tanneberger K. … Behrens J. (EMBO J. 2011) 2 3 4 67
  2. Structural and functional characterization of the Wnt inhibitor APC membrane recruitment 1 (Amer1). (PMID: 21498506) Tanneberger K. … Behrens J. (J. Biol. Chem. 2011) 2 3
  3. The WTX/AMER1 gene family: evolution, signature and function. (PMID: 20843316) Boutet A. … Schedl A. (BMC Evol. Biol. 2010) 2 3
  4. Substrate trapping proteomics reveals targets of the I^TrCP2/FBXW11 ubiquitin ligase. (PMID: 25332235) Kim T.Y. … Major M.B. (Mol. Cell. Biol. 2015) 3
  5. BioID-based Identification of Skp Cullin F-box (SCF)I^-TrCP1/2 E3 Ligase Substrates. (PMID: 25900982) Coyaud E. … Raught B. (Mol. Cell Proteomics 2015) 3

Products for AMER1 Gene

Sources for AMER1 Gene

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