Aliases for AMER1 Gene
Aliases for AMER1 Gene
External Ids for AMER1 Gene
- HGNC: 26837
- Entrez Gene: 139285
- Ensembl: ENSG00000184675
- OMIM: 300647
- UniProtKB: Q5JTC6
Previous HGNC Symbols for AMER1 Gene
- FAM123B
Previous GeneCards Identifiers for AMER1 Gene
- GC0XM063406
Summaries 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 Signaling by Wnt 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 CIViC summary , 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
Enhancers for AMER1 Gene
| GeneHancer Identifier | Enhancer Score | Enhancer Sources | Gene-Enhancer Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites within enhancer | Gene Targets for Enhancer |
|---|---|---|---|---|---|---|---|---|
| GH0XG065034 | 1.2 | FANTOM5 ENCODE | 7.6 | -828.7 | -828740 | 2.1 | PKNOX1 BMI1 ZNF2 ZNF48 RAD21 GLIS2 EGR1 CREM ZNF263 SP5 | AMER1 ZC4H2 ZC3H12B LOC100533843 |
| GH0XG064334 | 0.3 | FANTOM5 | 3.6 | -128.1 | -128112 | 0.2 | AMER1 MTMR8 LOC100421109 GC0XM064276 GC0XM064275 | |
| GH0XG064203 | 1 | ENCODE | 0.7 | +0.7 | 677 | 4.2 | PKNOX1 ATF1 CREB3L1 ZFP64 ARID4B SIN3A YY1 GLIS2 ZNF143 FOS | AMER1 LOC100419786 |
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around AMER1 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
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:
-
- Xq11.2 by Ensembl
- Xq11.2 by Entrez Gene
- Xq11.2 by HGNC
AMER1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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.
Protein Expression for AMER1 Gene
Post-translational modifications for AMER1 Gene
Other Protein References for AMER1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- R&D Systems Antibodies for AMER1 (WTX)
- Cell Signaling Technology (CST) Antibodies for AMER1 (WTX)
-
Custom Antibody ServicesOriGene Antibodies for AMER1
- Novus Biologicals Antibodies for AMER1
- Invitrogen Antibodies for AMER1
- antibodies-online Antibodies for AMER1: See all 37
- GeneTex AMER1 antibody for AMER1
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for AMER1
- Origene Custom Protein Services for AMER1
- Novus Biologicals proteins for AMER1
- Search GeneTex for Proteins for AMER1
Assay Products
- antibodies-online Kits for AMER1: See all 2
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- Family:
-
- Belongs to the Amer family.
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.
| 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 | IDA,IPI | 17510365 |
| GO:0008289 | lipid binding | IEA | -- |
| GO:1904713 | beta-catenin destruction complex binding | IPI | 17510365 |
Phenotypes for AMER1 Gene
- MGI mutant phenotypes for AMER1:
-
inferred from 2 alleles
- mortality/aging
- cellular phenotype
- growth/size/body region phenotype
- immune system phenotype
- homeostasis/metabolism phenotype
- cardiovascular system phenotype
- limbs/digits/tail phenotype
- skeleton phenotype
- embryo phenotype
- hematopoietic system phenotype
- renal/urinary system phenotype
- craniofacial phenotype
- adipose tissue phenotype
- GenomeRNAi human phenotypes for AMER1:
Animal Models for AMER1 Gene
- MGI Knock Outs for AMER1:
-
- Amer1 tm1.2Nbar
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for AMER1
-
-
ViGene Biosciences lentiviral particle packaged cDNA for AMER1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for AMER1 gene
- Search ViGene Biosciences for AMER1
CRISPR Products
-
OriGene CRISPR knockouts for AMER1
-
Santa Cruz Biotechnology (SCBT) CRISPR for AMER1
- GenScript: Design CRISPR guide RNA sequences for AMER1
miRNA for AMER1 Gene
- miRTarBase miRNAs that target AMER1
-
- hsa-mir-29c-3p (MIRT020401)
- hsa-mir-484 (MIRT042310)
- hsa-mir-16-5p (MIRT051169)
- hsa-mir-3148 (MIRT482005)
- hsa-mir-873-5p (MIRT482006)
- hsa-mir-761 (MIRT482007)
- hsa-mir-3619-5p (MIRT482008)
- hsa-mir-214-3p (MIRT482009)
- hsa-mir-6165 (MIRT482010)
- hsa-mir-3120-3p (MIRT482011)
- hsa-mir-29b-3p (MIRT482012)
- hsa-mir-29a-3p (MIRT482013)
- hsa-mir-4441 (MIRT482014)
- hsa-mir-3679-3p (MIRT482015)
- hsa-mir-6824-5p (MIRT482016)
- hsa-mir-4536-5p (MIRT482017)
- hsa-mir-876-3p (MIRT482018)
- hsa-mir-323a-5p (MIRT482019)
- hsa-mir-625-5p (MIRT482020)
- hsa-mir-6825-5p (MIRT482021)
- hsa-mir-6883-5p (MIRT482022)
- hsa-mir-4728-5p (MIRT482023)
- hsa-mir-6785-5p (MIRT482024)
- hsa-mir-149-3p (MIRT482025)
- hsa-mir-7106-5p (MIRT482026)
- hsa-mir-6716-5p (MIRT482027)
- hsa-mir-765 (MIRT482028)
- hsa-mir-6081 (MIRT482029)
- hsa-mir-6836-5p (MIRT482030)
- hsa-mir-4784 (MIRT482031)
- hsa-mir-6132 (MIRT482032)
- hsa-mir-4790-3p (MIRT482033)
- hsa-mir-3150b-3p (MIRT482034)
- hsa-mir-361-3p (MIRT482035)
- hsa-mir-6794-5p (MIRT482036)
- hsa-mir-6783-5p (MIRT482037)
- hsa-mir-4716-3p (MIRT482038)
- hsa-mir-7843-5p (MIRT482039)
- hsa-mir-6879-5p (MIRT482040)
- hsa-mir-6735-5p (MIRT482041)
- hsa-mir-4632-5p (MIRT482042)
- hsa-mir-4436b-3p (MIRT482043)
- hsa-mir-6888-5p (MIRT482044)
- hsa-mir-6510-5p (MIRT482046)
- hsa-mir-1277-5p (MIRT508102)
- hsa-mir-190a-3p (MIRT508103)
- hsa-mir-34c-3p (MIRT508104)
- hsa-mir-5011-5p (MIRT508105)
- hsa-mir-410-3p (MIRT508106)
- hsa-mir-4637 (MIRT508107)
- hsa-mir-34b-3p (MIRT508108)
- hsa-mir-599 (MIRT512294)
- hsa-mir-656-3p (MIRT512295)
- hsa-mir-548x-3p (MIRT512296)
- hsa-mir-548j-3p (MIRT512297)
- hsa-mir-548aq-3p (MIRT512298)
- hsa-mir-548am-3p (MIRT512299)
- hsa-mir-548aj-3p (MIRT512300)
- hsa-mir-548ah-3p (MIRT512301)
- hsa-mir-548ae-3p (MIRT512302)
- hsa-mir-548z (MIRT512303)
- hsa-mir-548h-3p (MIRT512304)
- hsa-mir-548d-3p (MIRT512305)
- hsa-mir-548bb-3p (MIRT512306)
- hsa-mir-548ac (MIRT512307)
- hsa-mir-574-5p (MIRT559608)
- hsa-mir-5010-3p (MIRT559609)
- hsa-mir-147a (MIRT559610)
- hsa-mir-6818-5p (MIRT559611)
- hsa-mir-297 (MIRT559612)
- hsa-mir-3924 (MIRT559613)
- hsa-mir-8068 (MIRT559614)
- hsa-mir-6867-5p (MIRT559615)
- hsa-mir-223-5p (MIRT559616)
- hsa-mir-567 (MIRT559617)
- hsa-mir-511-3p (MIRT559618)
- hsa-mir-6738-3p (MIRT660712)
- hsa-mir-544a (MIRT660714)
- hsa-mir-6845-5p (MIRT660715)
- hsa-mir-6762-5p (MIRT660716)
- hsa-mir-4793-3p (MIRT660717)
- hsa-mir-3130-3p (MIRT660718)
- hsa-mir-6756-3p (MIRT660719)
- hsa-mir-3127-3p (MIRT660720)
- hsa-mir-195-5p (MIRT727717)
- hsa-mir-15b-5p (MIRT727718)
- hsa-mir-15a-5p (MIRT727719)
miRNA Products
- Search ViGene Biosciences for AMER1
Clone Products
- VectorBuilder custom plasmid, inducible vectors for AMER1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for AMER1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
Horizon Cell Lines for AMER1
-
ViGene Biosciences adenoviral particle packaged cDNA for AMER1 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for AMER1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for AMER1 gene
Flow Cytometry Products
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.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| nucleus | 5 |
| cytosol | 5 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IEA | -- |
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005829 | cytosol | TAS | -- |
| GO:0005886 | plasma membrane | IDA,IEA | 17925383 |
| GO:0016020 | membrane | IEA | -- |
Pathways & Interactions for AMER1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | S45 mutants of beta-catenin arent phosphorylated | ||
| 2 | HIV Life Cycle |
.45
|
|
| 3 | Signaling by Wnt |
.71
|
|
| 4 | Wnt / Hedgehog / Notch | ||
| 5 | CDK-mediated phosphorylation and removal of Cdc6 | ||
Pathways by source for AMER1 Gene
1 Cell Signaling Technology pathway for AMER1 Gene
1 BioSystems pathway for AMER1 Gene
21 Reactome pathways for AMER1 Gene
Interacting Proteins for AMER1 Gene
Selected Interacting proteins:
ENSP00000329117
Q5JTC6-AMER1_HUMAN
for AMER1 Gene via
STRING
IID
UniProtKB
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0016055 | Wnt signaling pathway | TAS | -- |
| GO:0031398 | positive regulation of protein ubiquitination | IDA | 17510365 |
| GO:0043161 | proteasome-mediated ubiquitin-dependent protein catabolic process | TAS | -- |
| GO:0048856 | anatomical structure development | IBA | -- |
| GO:0060348 | bone development | IEA | -- |
Transcripts for AMER1 Gene
mRNA/cDNA for AMER1 Gene
- (1) 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
CRISPR Products
-
OriGene CRISPR knockouts for AMER1
-
Santa Cruz Biotechnology (SCBT) CRISPR for AMER1
- GenScript: Design CRISPR guide RNA sequences for AMER1
miRNA Products
- Search ViGene Biosciences for AMER1
Clone Products
- VectorBuilder custom plasmid, inducible vectors for AMER1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for AMER1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Flow Cytometry Products
Expression 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
NURSA nuclear receptor signaling pathways regulating expression of AMER1 Gene:
AMER1SOURCE GeneReport for Unigene cluster for AMER1 Gene:
Hs.314225mRNA 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(4.3)
- Spleen(4.1)
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
Organs:
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
Primer Products
-
OriGene qPCR primer pairs for AMER1
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | AMER1 35 |
|
OneToOne | |
| FAM123B 34 |
|
||||
| cow (Bos Taurus) |
Mammalia | FAM123B 34 |
|
||
| AMER1 35 |
|
OneToOne | |||
| dog (Canis familiaris) |
Mammalia | AMER1 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Amer1 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Amer1 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | AMER1 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | FAM123B 34 |
|
||
| AMER1 35 |
|
OneToOne | |||
| lizard (Anolis carolinensis) |
Reptilia | AMER1 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | amer1 34 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.15909 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | amer1 35 |
|
OneToOne |
- Species where no ortholog for AMER1 was found in the sources mined by GeneCards:
-
- 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)
Paralogs for AMER1 Gene
Variants for AMER1 Gene
| SNP ID | Clin | Chr 0X pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs137852216 | Pathogenic | 64,192,230(-) | CAAAC(C/T)GAGAT | reference, stop-gained | |
| rs137852217 | Pathogenic | 64,192,215(-) | CCAAG(A/C/T)GAAGT | reference, synonymous-codon, stop-gained | |
| rs387906722 | Pathogenic | 64,192,858(-) | AGATG(A/T)AAGAC | reference, stop-gained | |
| rs387907269 | Pathogenic | 64,192,476(-) | ATGTG(C/T)AACCC | reference, stop-gained | |
| rs398122877 | Pathogenic | 64,192,020(-) | TGAAC(-/C)TGGGC | reference, frameshift-variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv1584074 | OTHER | inversion | 17803354 |
| nsv521560 | CNV | gain | 19592680 |
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
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AMER1 Gene
Disorders for AMER1 Gene
(4) MalaCards diseases for AMER1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| osteopathia striata with cranial sclerosis |
|
|
| adenomatous polyposis coli |
|
|
| ovarian carcinosarcoma |
|
|
| wilson-turner syndrome |
|
|
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
No data available for Genatlas for AMER1 Gene
Publications for AMER1 Gene
- 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 64
- 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 4 64
- The WTX/AMER1 gene family: evolution, signature and function. (PMID: 20843316) Boutet A. … Schedl A. (BMC Evol. Biol. 2010) 2 3 4 64
- Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis. (PMID: 19079258) Jenkins Z.A. … Robertson S.P. (Nat. Genet. 2009) 3 4 64
- The tumor suppressor WTX shuttles to the nucleus and modulates WT1 activity. (PMID: 19416806) Rivera M.N. … Haber D.A. (Proc. Natl. Acad. Sci. U.S.A. 2009) 3 4 64
Products for AMER1 Gene
- R&D Systems Antibodies for AMER1 (WTX)
- Browse R&D Systems for Human Recombinant Proteins
- Browse R&D Systems for biochemical assays
- Browse Primary Antibodies
- Browse Proteins and Enzymes
- Browse ELISAs
- Browse Activity Assays
- Browse cDNA Clones
- Browse Cell Culture Products
- Browse Cell Selection and Detection Kits
- Browse DNA Damage and Repair Kits
- Browse ELISpot/FluoroSpot Kits and Development Modules
- Browse Flow Cytometry Kits
- Browse Immunoprecipitation Assays
- Browse Luminex Assays
- Browse Peptides
- Browse Proteome Profiler Antibody Arrays
- Browse Small Molecules
- Custom Antibody ServicesOriGene Antibodies for AMER1
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for AMER1
- Origene Custom Protein Services for AMER1
- Origene rat_shrna, siRNA, mouse_rna, shRNA, and RNAi products in human, mouse, rat for AMER1
- Browse OriGene Inhibitory RNA Products For AMER1
- OriGene qPCR primer pairs for AMER1
- OriGene CRISPR knockouts for AMER1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For AMER1
- GenScript: Next-day shipping cDNA ORF clone for AMER1 in any vector
- GenScript Custom Purified and Recombinant Proteins Services for AMER1
- GenScript Custom Assay Services for AMER1
- GenScript Custom overexpressing Cell Line Services for AMER1
- GenScript: Design CRISPR guide RNA sequences for AMER1
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for AMER1
- Cell Signaling Technology (CST) Antibodies for AMER1 (WTX)
- Search for Antibodies & Assays
- Browse Sino Biological cDNA Clones
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Proteins
- Sino Biological Antibodies
- Sino Biological ELISA Kits and Pair Sets
- Sino Biological Cell Lysates
- Sino Biological qPCR Primers
- Sino Biological CRO Services for Proteins, Antibodies and Genes
- Sino Biological Transfection Reagents
- Novus Biologicals Antibodies for AMER1
- Novus Biologicals proteins for AMER1
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Invitrogen Antibodies for AMER1
- antibodies-online Antibodies for AMER1: See all 37
- antibodies-online Kits for AMER1: See all 2
- Search antibodies-online for proteins
- Search antibodies-online for peptides
- GeneTex AMER1 antibody for AMER1
- Search GeneTex for Proteins for AMER1
- ViGene Biosciences adenoviral particle packaged cDNA for AMER1 gene
- ViGene Biosciences lentiviral particle packaged cDNA for AMER1 gene
- ViGene Biosciences ready-to-package AAV shRNAs for AMER1 gene
- Search ViGene Biosciences for AMER1
- Horizon Cell Lines for AMER1
- Cyagen custom Knockout/knockin (KOKI) mouse models for AMER1
- VectorBuilder custom plasmid, inducible vectors for AMER1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for AMER1
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for AMER1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
- (102) PaxDb
- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
- (113) Taconic Biosciences
- (114) GTEx
- (115) ProteomicsDB
- (116) SCBT
- (117) DGIdb
- (118) ClinicalTrials
- (119) FDA Approved Drugs
- (120) RVIS
- (121) SIGNOR
- (122) diseasecard
- (123) NIH Rare Diseases
- (124) Orphanet
- (125) UMLS
- (126) GTR
- (127) Disease Ontology
- (128) Genetics Home Reference
- (129) MeSH
- (130) MedlinePlus
- (131) CDC
- (132) NINDS
- (133) NCBI Bookshelf
- (134) ClinVar
- (135) Gene Damage Index
- (136) ViGene Biosciences
- (137) HPO
- (138) UDN
- (139) VISTA
- (140) FANTOM5
- (141) ENCODE
- (142) ProSci
- (143) Horizon
- (144) NURSA
- (145) IID
- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer