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] See more...

Aliases for AMER1 Gene

Aliases for AMER1 Gene

  • APC Membrane Recruitment Protein 1 2 3 4 5
  • WTX 2 3 4
  • 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
  • RP11-403E24.2 2 3
  • FAM123B 3 4
  • FLJ39827 2
  • AMER1 5
  • 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]

CIViC Summary for AMER1 Gene

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 Hyperostosis. Among its related pathways are Signaling by GPCR and S45 mutants of beta-catenin arent phosphorylated. Gene Ontology (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 Summary 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 , Rfam classification and piRNA Summary for AMER1 Gene

Genomics for AMER1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for AMER1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ064203 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 600.7 0.0 -9 4.2 SP1 HNRNPL PRDM10 REST ZNF692 POLR2A FOS DDX20 ZNF143 RBFOX2 AMER1 ENSG00000287370 ASB12
GH0XJ065034 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 7.6 -829.6 -829592 2.6 PRDM10 RFX1 PRDM1 ZIC2 RBFOX2 PKNOX1 POLR2A PATZ1 CTCF ZNF341 ZC4H2 ZC3H12B lnc-ZC3H12B-3 AMER1 RF00994-1185 LAS1L
GH0XJ064394 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 3.7 -189.4 -189427 1.9 BRCA1 ARHGAP35 SIX5 POLR2A RCOR1 ZNF600 YY1 KLF9 MGA SP2 MTMR8 AMER1 piR-55194-437 ASB12
GH0XJ064184 Enhancer 0.2 Ensembl 12.6 +21.3 21307 0.4 AMER1 RN7SL799P piR-48325-157 ENSG00000226010 lnc-AMER1-1 LOC100419786 ARHGEF9
GH0XJ064161 Enhancer 0.2 Ensembl 7.1 +45.4 45407 0.2 AMER1 LOC100419786 ENSG00000226010 lnc-AMER1-1 piR-48325-157 ARHGEF9
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AMER1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AMER1

Genomic Locations for AMER1 Gene

Genomic Locations for AMER1 Gene
chrX:64,185,117-64,205,708
(GRCh38/hg38)
Size:
20,592 bases
Orientation:
Minus strand
chrX:63,404,997-63,425,624
(GRCh37/hg19)
Size:
20,628 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.

    Three dimensional structures from OCA and Proteopedia for AMER1 Gene

    Alternative splice isoforms for AMER1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AMER1 Gene

Post-translational modifications for AMER1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for AMER1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for AMER1 Gene

Domains & Families for AMER1 Gene

Gene Families for AMER1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for AMER1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for AMER1 Gene

GenScript: Design optimal peptide antigens:
  • Wilms tumor gene on the X chromosome protein (F123B_HUMAN)

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

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:0005546 phosphatidylinositol-4,5-bisphosphate binding IMP 17925383
GO:0008013 beta-catenin binding IPI 17510365
GO:0008289 lipid binding IEA --
GO:1904713 beta-catenin destruction complex binding 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

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AMER1

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AMER1 gene
Compartment Confidence
plasma membrane 5
nucleus 5
cytosol 5
extracellular 2
cytoskeleton 2
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear bodies (3)
  • Plasma membrane (3)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for AMER1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IBA,IDA 17925383
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with AMER1: view

Pathways & Interactions for AMER1 Gene

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

SIGNOR curated interactions for AMER1 Gene

Activates:
Inactivates:

Gene Ontology (GO) - Biological Process for AMER1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001822 kidney development IEA --
GO:0016055 Wnt signaling pathway TAS --
GO:0031398 positive regulation of protein ubiquitination IDA 17510365
GO:0060348 bone development IEA --
GO:0060612 adipose tissue development IEA --
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

1 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AMER1

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

No ASD Table

Relevant External Links for AMER1 Gene

GeneLoc Exon Structure for
AMER1

Expression for AMER1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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



Protein tissue co-expression partners for AMER1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AMER1

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.

Evidence on tissue expression from TISSUES for AMER1 Gene

  • Liver(4.4)
  • Spleen(4.3)
  • Intestine(2.2)
  • Kidney(2.2)
  • Nervous system(2.1)
  • Skin(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for AMER1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • chin
  • cranial nerve
  • ear
  • epiglottis
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • meninges
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • sinus
  • skull
  • tongue
  • tooth
  • vocal cord
Thorax:
  • breast
  • chest wall
  • clavicle
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • trachea
Abdomen:
  • biliary tract
  • duodenum
  • intestine
  • large intestine
  • pancreas
  • small intestine
  • stomach
Pelvis:
  • pelvis
  • placenta
  • uterus
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with AMER1: view

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
Chimpanzee
(Pan troglodytes)
Mammalia AMER1 31
  • 99 (a)
OneToOne
FAM123B 30
  • 98.77 (n)
Cow
(Bos Taurus)
Mammalia FAM123B 30
  • 86.9 (n)
AMER1 31
  • 85 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia AMER1 30 31
  • 85.9 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Amer1 30 17 31
  • 83.47 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Amer1 30
  • 82.75 (n)
Oppossum
(Monodelphis domestica)
Mammalia AMER1 31
  • 50 (a)
OneToOne
Chicken
(Gallus gallus)
Aves FAM123B 30
  • 53.02 (n)
AMER1 31
  • 35 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia AMER1 31
  • 44 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia amer1 30
  • 51.67 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.15909 30
Zebrafish
(Danio rerio)
Actinopterygii amer1 31
  • 28 (a)
OneToOne
Species where no ortholog for AMER1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for AMER1: view image

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AMER1 Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
636242 Pathogenic: Osteopathia striata with cranial sclerosis 64,192,722(-) G/A NONSENSE
710720 Likely Benign: not provided 64,190,799(-) T/C MISSENSE_VARIANT
711253 Benign: not provided 64,192,150(-) G/A SYNONYMOUS_VARIANT
713850 Benign: not provided 64,191,676(-) G/A SYNONYMOUS_VARIANT
718682 Benign: not provided 64,190,767(-) G/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for AMER1 Gene

Structural Variations from Database of Genomic Variants (DGV) for AMER1 Gene

Variant ID Type Subtype PubMed ID
esv1584074 OTHER inversion 17803354
nsv521560 CNV gain 19592680

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)

Additional Variant Information for AMER1 Gene

Human Gene Mutation Database (HGMD)
AMER1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AMER1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AMER1 Gene

Disorders for AMER1 Gene

MalaCards: The human disease database

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

- 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.
genes like me logo Genes that share disorders with AMER1: view

No data available for Genatlas for AMER1 Gene

Publications for AMER1 Gene

  1. Structural and functional characterization of the Wnt inhibitor APC membrane recruitment 1 (Amer1). (PMID: 21498506) Tanneberger K … Behrens J (The Journal of biological chemistry 2011) 2 3 4
  2. Amer1/WTX couples Wnt-induced formation of PtdIns(4,5)P2 to LRP6 phosphorylation. (PMID: 21304492) Tanneberger K … Behrens J (The EMBO journal 2011) 2 3 4
  3. The WTX/AMER1 gene family: evolution, signature and function. (PMID: 20843316) Boutet A … Schedl A (BMC evolutionary biology 2010) 2 3 4
  4. The tumor suppressor WTX shuttles to the nucleus and modulates WT1 activity. (PMID: 19416806) Rivera MN … Haber DA (Proceedings of the National Academy of Sciences of the United States of America 2009) 3 4
  5. Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis. (PMID: 19079258) Jenkins ZA … Robertson SP (Nature genetics 2009) 3 4

Products for AMER1 Gene

Sources for AMER1 Gene