AMER1 - APC membrane recruitment protein 1 Gene

Also Known as WTX; OSCS; FAM123B

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 139285

About AMER1

Cytogenetic location: Xq11.2 Genomic coordinates (GRCh38): X:64,185,117-64,205,708 (from NCBI)

This gene has 1 transcript (splice variant), 189 orthologues, 2 paralogues and is associated with 99 phenotypes. Ubiquitous expression in ovary (RPKM 3.7), esophagus (RPKM 1.8) and 25 other tissues.

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

AMER1 Products (1)

mRNA	Protein	Name
NM_152424.4	NP_689637.3	APC membrane recruitment protein 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
enables beta-catenin binding	IDA IDA: Inferred from direct assay	21498506	GOA
enables beta-catenin binding	IPI IPI: Inferred from physical interaction	17510365	GOA
enables beta-catenin destruction complex binding	IPI IPI: Inferred from physical interaction	17510365	GOA
enables phosphatidylinositol-4,5-bisphosphate binding	IDA IDA: Inferred from direct assay	21304492	GOA
enables phosphatidylinositol-4,5-bisphosphate binding	IMP IMP: Inferred from mutant phenotype	17925383	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	17510365	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
involved in negative regulation of canonical Wnt signaling pathway	IGI IGI: Inferred from genetic interaction	17510365	GOA
involved in negative regulation of canonical Wnt signaling pathway	IMP IMP: Inferred from mutant phenotype	21498506	GOA
involved in positive regulation of canonical Wnt signaling pathway	IMP IMP: Inferred from mutant phenotype	21304492	GOA
involved in positive regulation of protein catabolic process	IDA IDA: Inferred from direct assay	17510365	GOA
involved in positive regulation of protein ubiquitination	IDA IDA: Inferred from direct assay	17510365	GOA
involved in regulation of canonical Wnt signaling pathway	IMP IMP: Inferred from mutant phenotype	17925383	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
located in plasma membrane	IDA IDA: Inferred from direct assay	17925383	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

AMER1 Protein Structure

WTX

0
200
400
600
800
1000
1135 a.a.

Protein Preferred Names	Protein Names
APC membrane recruitment protein 1	RP11-403E24.2

AMER1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	AMER1	Q5JTC6	BTRC	Homo sapiens	Q9Y297	Pull Down	17510365
Intra	AMER1	Q5JTC6	FBXW11	Homo sapiens	Q9UKB1	TAP	17510365
Intra	AMER1	Q5JTC6	FBXW11	Homo sapiens	Q9UKB1	Pull Down	17510365
Intra	AMER1	Q5JTC6	CTNNB1	Homo sapiens	P35222	Pull Down	17510365
Intra	AMER1	Q5JTC6	CTNNB1	Homo sapiens	P35222	TAP	17510365
Intra	AMER1	Q5JTC6	AXIN1	Homo sapiens	O15169	Pull Down	17510365
Intra	AMER1	Q5JTC6	APC	Homo sapiens	P25054	TAP	17510365
Intra	AMER1	Q5JTC6	APC	Homo sapiens	P25054	Anti Tag CoIP	24251807
Intra	AMER1	Q5JTC6	KEAP1	Homo sapiens	Q14145	Pull Down	17510365
Intra	AMER1	Q5JTC6	KEAP1	Homo sapiens	Q14145	TAP	17510365
Intra	AMER1	Q5JTC6	AMER3	Homo sapiens	Q8N944	IF	24251807
Intra	AMER1	Q5JTC6	AMER3	Homo sapiens	Q8N944	Anti Tag CoIP	24251807

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Osteopathia Striata With Cranial Sclerosis	Hyperostosis Generalisata With Striations Robinow-Unger Syndrome OSCS Osteopathia Striata Cranial Sclerosis Osteopathia Striata-Cranial Sclerosis Syndrome Horan-Beighton Syndrome Os-Cs Osteopathia Striata - Cranial Sclerosis Voorhoeve Disease Osc
Cleft Palate, Isolated	Cleft Palate Isolated Cleft Palate CPI Cp Palatoschisis Cleft Palate Isolated Uranostaphyloschisis Congenital Fissure Of Palate Cleft Of Secondary Palate
Colorectal Cancer	Colon Cancer Colorectal Carcinoma Colon Carcinoma Colorectal Cancer, Susceptibility To Carcinoma Of Colon CRC Colorectal Cancer With Chromosomal Instability, Somatic Colon Cancer, Somatic Colon Cancer, Susceptibility To Colonic Neoplasms Colorectal Neoplasms Colorectal Cancer, Somatic Colon Cancer, Advanced, Somatic Colonic Carcinoma Colorectal Carcinomas Colon Cancers Colorectal Cancers Cancer, Colorectal, Somatic Cancer, Colon Cancer, Colorectal, Susceptibility To Colorectal Neoplasm Colonic Neoplasm Malignant Tumor Of Colon
Rectum Adenocarcinoma	Rectal Adenocarcinoma Adenocarcinoma Of Rectum
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type	Wilson-Turner Syndrome WTS Mrxs6 X-Linked Intellectual Disability-Gynecomastia-Obesity Syndrome Mrxswt Wilson-Turner X-Linked Mental Retardation Syndrome Mental Retardation, X-Linked, Syndromic 6 Mental Retardation, X-Linked, With Gynecomastia And Obesity Intellectual Disability, X-Linked, Syndromic 6 Intellectual Disability, X-Linked, With Gynecomastia And Obesity Wilson Turner Intellectual Disability Syndrome X-Linked Intellectual Disability - Gynecomastia - Obesity
Hyperostosis	Hypertrophy Of Bone Bone Hypertrophy Bone Thickening Periosteum Thickening
Endosteal Hyperostosis, Autosomal Dominant	Osteosclerosis Worth Syndrome Osteosclerosis, Autosomal Dominant Hyperostosis, Endosteal Endosteal Hyperostosis, Worth Type Worth Disease Autosomal Dominant Endosteal Hyperostosis Autosomal Dominant Osteosclerosis, Worth Type Hyperostosis Corticalis Generalisata, Benign Form Of Worth, With Torus Palatinus Autosomal Dominant Osteosclerosis Benign Form Of Worth Hyperostosis Corticalis Generalisata With Torus Platinus Worth'S Syndrome Worth Type Autosomal Dominant Osteosclerosis Hyperostosis Corticalis Generalisata, Benign Form Of Worth With Torus Palatinus Osteosclerosis, Autosomal Dominant, Worth Type WENHY Endosteal Hyperostosis Autosomal Dominant Hyperostosis Corticalis Generalisata Benign Form Of Worth With Torus Palatinus Osteosclerosis Autosomal Dominant Acquired Osteosclerosis
Mucinous Adenofibroma
Hereditary Wilms' Tumor	Hereditary Wilms Tumor Hereditary Wilms Tumour Hereditary Wilms' Tumour Wt1
Syndromic X-Linked Intellectual Disability	X-Linked Syndromic Intellectual Disability
Craniodiaphyseal Dysplasia	CDD Schaefer Stein Oshman Syndrome Craniodiaphyseal Dysplasia, Dominant Dominantly Inherited Craniodiaphyseal Dysplasia
Denys-Drash Syndrome	Drash Syndrome DDS Nephropathy, Wilms Tumor, And Genital Anomalies Wilms Tumor And Pseudohermaphroditism Wilms Tumor And Pseudo- Or True Hermaphroditism Nephropathy Associated With Male Pseudohermaphroditism And Wilms' Tumor Pseudohermaphroditism, Nephron Disorder And Wilms' Tumor Wilms Tumor-Dsd Syndrome Wilms Tumor-Disorder Of Sex Development Syndrome
Perlman Syndrome	Nephroblastomatosis, Fetal Ascites, Macrosomia And Wilms Tumor PRLMNS Renal Hamartomas, Nephroblastomatosis, And Fetal Gigantism Nephroblastomatosis Fetal Ascites Macrosomia And Wilms Tumor Nephroblastomatosis, Fetal Ascites, Macrosomia, And Wilms Tumor Nephroblastomatosis - Fetal Ascites - Macrosomia - Wilms Tumor Renal Hamartomas, Nephroblastomatosis And Fetal Gigantism Nephroblastomatosis-Fetal Ascites-Macrosomia-Wilms Tumor Syndrome Renal Hamartomas Nephroblastomatosis And Fetal Gigantism Nephroblastoma Fetal Macrosomia
Wilms Tumor 1	Nephroblastoma Wilms Tumor WT1 Wilms' Tumor Bilateral Wilms Tumor Wilms Tumor, Type 1 Wilms Tumor, Somatic Adult Nephroblastoma Wt1 Disorder Renal Embryonic Tumor Adult Kidney Wilms Tumor Childhood Kidney Wilms Tumor Nonanaplastic Kidney Wilms Tumor
Syndromic Intellectual Disability
Colon Adenocarcinoma	Adenocarcinoma Of Colon Adenocarcinoma Of The Colon Colonic Adenocarcinoma
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome	Wagr Syndrome 11p Partial Monosomy Syndrome Chromosome 11p13 Deletion Syndrome Wilms Tumor, Aniridia, Genitourinary Anomalies And Mental Retardation Syndrome 11p Deletion Syndrome Chromosome 11p Deletion Syndrome Wagr Complex Wilms Tumor-Aniridia-Genitourinary Anomalies-Intellectual Disability Syndrome Deletion 11p13 WAGR Wilms Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation Syndrome Chromosome 11p Deletion 11p Deletion 11p Monosomy Deletion 11p Monosomy 11p Partial Monosomy 11p Agr Triad Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation Syndrome Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation Syndrome Wagr Contiguous Gene Syndrome Wilms Tumor-Aniridia-Genital Anomalies-Retardation Syndrome Wilms Tumor-Aniridia-Genitourinary Anomalies-Mr Syndrome Del(11)(P13) Monosomy 11p13 Chromosome 11, Deletion 11p
Aniridia 1	Aniridia Congenital Aniridia AN1 An Cataract With Late-Onset Corneal Dystrophy Aplasia Of Iris Absent Iris Irideremia Aniridia Ii, Formerly An2, Formerly An2 Aniridia Type Ii Aniridia, Type 1 An-1 Absence Of Iris Agenesis Of Iris Congenital Absence Of Iris Hereditary Aniridia Sporadic Aniridia
Beckwith-Wiedemann Syndrome	Wiedemann-Beckwith Syndrome BWS Exomphalos-Macroglossia-Gigantism Syndrome Emg Syndrome Beckwith-Wiedemann Syndrome Due To Cdkn1c Mutation Emg Abnormality Wbs Exomphalos Macroglossia Gigantism Syndrome Beckwith-Wiedemann Syndrome Due To Nsd1 Mutation Macroglossia Exomphalos Gigantism

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS00649	AMER1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	AMER1	MGD	MGI:1919595
Rattus norvegicus	AMER1	RGD	RGD:1560322
Macaca mulatta	AMER1	VGNC	VGNC:69716
Canis familiaris	AMER1	VGNC	VGNC:37828
Felis catus	AMER1	VGNC	VGNC:82394
Bos taurus	AMER1	VGNC	VGNC:25861
Others	AMER1	NCBI