AMER1 - APC membrane recruitment protein 1 Gene

Homo sapiens

Also known as WTX; OSCS; FAM123B

Gene ID: 139285 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00649	AMER1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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