Amer1 APC membrane recruitment 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Amer1provided by MGI
Official Full Name: APC membrane recruitment 1provided by MGI
Primary source: MGI:MGI:1919595
See related: Ensembl:ENSMUSG00000050332 AllianceGenome:MGI:1919595
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Wtx; Fam123b; 2810002O09Rik
Summary: Predicted to enable beta-catenin binding activity; beta-catenin destruction complex binding activity; and phosphatidylinositol-4,5-bisphosphate binding activity. Acts upstream of or within adipose tissue development; bone development; and mesenchymal cell differentiation involved in kidney development. Predicted to be located in nuclear body. Predicted to be active in plasma membrane. Is expressed in several structures, including central nervous system; embryo mesenchyme; epithelium; genitourinary system; and sensory organ. Used to study osteopathia striata with cranial sclerosis. Human ortholog(s) of this gene implicated in osteopathia striata with cranial sclerosis. Orthologous to human AMER1 (APC membrane recruitment protein 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in bladder adult (RPKM 3.7), limb E14.5 (RPKM 3.4) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: X C3; X 41.99 cM

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	X	NC_000086.8 (94463919..94488446, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	X	NC_000086.7 (95420313..95444840, complement)

Chromosome X - NC_000086.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

analysis provides a novel model for WTX-caused bone diseases and explains on the molecular level how truncation mutations in this gene may retain some of WTX-protein functions.
Title: Genetic and Molecular Insights Into Genotype-Phenotype Relationships in Osteopathia Striata With Cranial Sclerosis (OSCS) Through the Analysis of Novel Mouse Wtx Mutant Alleles.
WTX stabilized chromatin binding by TRIM28 and contributed to transcriptional repression of repetitive sequences by TRIM28 in mouse embryonic stem cells.
Title: The WTX Tumor Suppressor Interacts with the Transcriptional Corepressor TRIM28.
The constellation of anomalies in Wtx null mice suggests that this tumor suppressor broadly regulates mesenchymal progenitor cells in multiple tissues.
Title: The WTX tumor suppressor regulates mesenchymal progenitor cell fate specification.
The observed phenotypic discordance dependent upon whether a mutation is germline or occurs somatically suggests the existence of temporal or spatial constraints on the action of WTX during tumorigenesis.
Title: Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (4) 1 citation
Endonuclease-mediated (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AW492303 (e-PCR)
- UniSTS:181309

px-65b2 (e-PCR)
- UniSTS:258112

Fam123b (e-PCR), detects polymorphism
- UniSTS:531048

NoName (e-PCR)
- UniSTS:488869

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables beta-catenin binding	IBA Inferred from Biological aspect of Ancestor more info
enables beta-catenin binding	ISO Inferred from Sequence Orthology more info
enables beta-catenin destruction complex binding	ISO Inferred from Sequence Orthology more info
enables lipid binding	IEA Inferred from Electronic Annotation more info
enables phosphatidylinositol-4,5-bisphosphate binding	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylinositol-4,5-bisphosphate binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within Wnt signaling pathway	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within adipose tissue development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within bone development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within kidney development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within mesenchymal cell differentiation involved in kidney development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of canonical Wnt signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of canonical Wnt signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of protein catabolic process	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of protein ubiquitination	ISO Inferred from Sequence Orthology more info
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	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in nuclear body	ISO Inferred from Sequence Orthology more info
located_in nucleus	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: APC membrane recruitment protein 1

Names: family with sequence similarity 123, member B; 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.