AMER1 APC membrane recruitment protein 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: AMER1provided by HGNC
Official Full Name: APC membrane recruitment protein 1provided by HGNC
Primary source: HGNC:HGNC:26837
See related: Ensembl:ENSG00000184675 MIM:300647; AllianceGenome:HGNC:26837
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: WTX; OSCS; FAM123B
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]
Expression: Ubiquitous expression in ovary (RPKM 3.7), esophagus (RPKM 1.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: Xq11.2

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (64185117..64205708, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (62610394..62630983, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (63404997..63425588, complement)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

AMER1 deficiency promotes the distant metastasis of colorectal cancer by inhibiting SLC7A11- and FTL-mediated ferroptosis.
Title: AMER1 deficiency promotes the distant metastasis of colorectal cancer by inhibiting SLC7A11- and FTL-mediated ferroptosis.
IRF-2 inhibits cancer proliferation by promoting AMER-1 transcription in human gastric cancer.
Title: IRF-2 inhibits cancer proliferation by promoting AMER-1 transcription in human gastric cancer.
The phenotypic spectrum of AMER1-related osteopathia striata with cranial sclerosis: The first Canadian cohort.
Title: The phenotypic spectrum of AMER1-related osteopathia striata with cranial sclerosis: The first Canadian cohort.
Deletion of Exon 1 in AMER1 in Osteopathia Striata with Cranial Sclerosis.
Title: Deletion of Exon 1 in AMER1 in Osteopathia Striata with Cranial Sclerosis.
KIF23 activated Wnt/beta-catenin signaling pathway through direct interaction with Amer1 in gastric cancer.
Title: KIF23 activated Wnt/β-catenin signaling pathway through direct interaction with Amer1 in gastric cancer.
found that miR-4524b-5p could regulate the migration and invasion of cervical cancer by targeting WTX and that WTX could regulate the expression of beta-catenin
Title: MiR-4524b-5p/WTX/β-catenin axis functions as a regulator of metastasis in cervical cancer.
This study revealed no clinical or pathologic distinctions between Wilms tumor (WT) with and without WTX mutation. This similarity lends support to the concept of a common tumorigenic pathway between WT with aberrant WTX and those without.
Title: Clinical, Pathologic, and Genetic Features of Wilms Tumors With WTX Gene Mutation.
A novel heterozygous frameshift mutation in AMER1 was identified in a patient with osteopathia striata with cranial sclerosis.
Title: High bone mass due to novel LRP5 and AMER1 mutations.
Losses of AMER1 by other mechanisms apart from mutations.
Title: Exome Sequencing Reveals AMER1 as a Frequently Mutated Gene in Colorectal Cancer.
A nonsense mutation (c.1045C>T, p.Glu349*) in the WTX gene.
Title: A novel WTX mutation in a female patient with osteopathia striata with cranial sclerosis and hepatoblastoma.

Submit: New GeneRIF Correction See all GeneRIFs (40)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Osteopathia striata with cranial sclerosis MedGen: C0432268 OMIM: 300373 GeneReviews: Osteopathia Striata with Cranial Sclerosis	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables beta-catenin binding	IBA Inferred from Biological aspect of Ancestor more info
enables beta-catenin binding	IDA Inferred from Direct Assay more info	PubMed
enables beta-catenin binding	IPI Inferred from Physical Interaction more info	PubMed
enables beta-catenin destruction complex binding	IPI Inferred from Physical Interaction more info	PubMed
enables phosphatidylinositol-4,5-bisphosphate binding	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylinositol-4,5-bisphosphate binding	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylinositol-4,5-bisphosphate binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in Wnt signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in adipose tissue development	IEA Inferred from Electronic Annotation more info
involved_in bone development	IEA Inferred from Electronic Annotation more info
involved_in mesenchymal cell differentiation involved in kidney development	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of canonical Wnt signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
involved_in negative regulation of canonical Wnt signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of canonical Wnt signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of protein catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of protein ubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of canonical Wnt signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of canonical Wnt signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cytosol	TAS Traceable Author Statement more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in nuclear body	IDA Inferred from Direct Assay more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: APC membrane recruitment protein 1

Names: RP11-403E24.2; Wilms tumor gene on the X chromosome protein; Wilms tumor on the X; adenomatous polyposis coli membrane recruitment 1; family with sequence similarity 123B; protein FAM123B

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.