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AMER3 APC membrane recruitment protein 3 [ Homo sapiens (human) ]

Gene ID: 205147, updated on 5-Mar-2024

Summary

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Official Symbol
AMER3provided by HGNC
Official Full Name
APC membrane recruitment protein 3provided by HGNC
Primary source
HGNC:HGNC:26771
See related
Ensembl:ENSG00000178171 AllianceGenome:HGNC:26771
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FAM123C
Summary
Predicted to enable beta-catenin binding activity and phosphatidylinositol-4,5-bisphosphate binding activity. Predicted to be involved in regulation of canonical Wnt signaling pathway. Predicted to be located in membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in brain (RPKM 2.4), stomach (RPKM 0.3) and 3 other tissues See more
Orthologs
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Genomic context

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See AMER3 in Genome Data Viewer
Location:
2q21.1
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (130755540..130768134)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (131189705..131202299)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (131513113..131525707)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:131451031-131451531 Neighboring gene fatty acyl-CoA reductase 2 pseudogene 3 Neighboring gene Kruppel like factor 2 pseudogene 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:131484365-131484892 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:131485214-131485793 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:131485794-131486372 Neighboring gene G protein-coupled receptor 148 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:131498005-131498506 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:131498507-131499006 Neighboring gene uncharacterized LOC124907890 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:131512889-131513388 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:131514267-131514770 Neighboring gene uncharacterized LOC124907891 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:131543220-131543720 Neighboring gene CYCS pseudogene 8

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: 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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Related articles in PubMed

  1. The WTX/AMER1 gene family: evolution, signature and function. Boutet A, et al. BMC Evol Biol, 2010 Sep 15. PMID 20843316, Free PMC Article
  2. Adenomatous polyposis coli (APC) membrane recruitment 3, a member of the APC membrane recruitment family of APC-binding proteins, is a positive regulator of Wnt-β-catenin signalling. Brauburger K, et al. FEBS J, 2014 Feb. PMID 24251807
  3. E3 ubiquitin ligase RNF123 targets lamin B1 and lamin-binding proteins. Khanna R, et al. FEBS J, 2018 Jun. PMID 29676528
  4. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039

See all (7) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Data suggest Amer3 activates Wnt signaling, in contrast to Amer1/Amer2 which inhibit Wnt, suggesting non-redundant role of Amer proteins in regulation of Wnt pathway. Knockdown of Amer3 reduces Wnt target gene expression in colorectal cancer cells.
    Title: Adenomatous polyposis coli (APC) membrane recruitment 3, a member of the APC membrane recruitment family of APC-binding proteins, is a positive regulator of Wnt-β-catenin signalling.
Submit: New GeneRIF Correction

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ38377

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables beta-catenin binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables phosphatidylinositol-4,5-bisphosphate binding IBA
Inferred from Biological aspect of Ancestor
more info
  
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 regulation of canonical Wnt signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
APC membrane recruitment protein 3
Names
family with sequence similarity 123C
protein FAM123C

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.

mRNA and Protein(s)

  1. NM_001105193.2 → NP_001098663.1  APC membrane recruitment protein 3

    See identical proteins and their annotated locations for NP_001098663.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. All four transcript variants encode the same protein.
    Source sequence(s)
    AC140481, AK095696, BC113445, DA500900
    Consensus CDS
    CCDS2164.1
    UniProtKB/Swiss-Prot
    B7ZLH6, Q8N944
    Related
    ENSP00000410421.2, ENST00000431758.2
    Conserved Domains (2) summary
    PRK07764
    Location:510 → 671
    PRK07764; DNA polymerase III subunits gamma and tau; Validated
    pfam09422
    Location:237 → 447
    WTX; WTX protein

  2. NM_001105194.2 → NP_001098664.1  APC membrane recruitment protein 3

    See identical proteins and their annotated locations for NP_001098664.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. All four transcript variants encode the same protein.
    Source sequence(s)
    AC140481, AK095696, BC113445, DA401709
    Consensus CDS
    CCDS2164.1
    UniProtKB/Swiss-Prot
    B7ZLH6, Q8N944
    Related
    ENSP00000389242.2, ENST00000458606.6
    Conserved Domains (2) summary
    PRK07764
    Location:510 → 671
    PRK07764; DNA polymerase III subunits gamma and tau; Validated
    pfam09422
    Location:237 → 447
    WTX; WTX protein

  3. NM_001105195.2 → NP_001098665.1  APC membrane recruitment protein 3

    See identical proteins and their annotated locations for NP_001098665.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. All four transcript variants encode the same protein.
    Source sequence(s)
    AC140481, AK095696, BC113445, DA318919
    Consensus CDS
    CCDS2164.1
    UniProtKB/Swiss-Prot
    B7ZLH6, Q8N944
    Conserved Domains (2) summary
    PRK07764
    Location:510 → 671
    PRK07764; DNA polymerase III subunits gamma and tau; Validated
    pfam09422
    Location:237 → 447
    WTX; WTX protein

  4. NM_152698.3 → NP_689911.2  APC membrane recruitment protein 3

    See identical proteins and their annotated locations for NP_689911.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript.
    Source sequence(s)
    AC140481, AK095696, BC113445, DA102742
    Consensus CDS
    CCDS2164.1
    UniProtKB/Swiss-Prot
    B7ZLH6, Q8N944
    Related
    ENSP00000314914.4, ENST00000321420.5
    Conserved Domains (2) summary
    PRK07764
    Location:510 → 671
    PRK07764; DNA polymerase III subunits gamma and tau; Validated
    pfam09422
    Location:237 → 447
    WTX; WTX protein

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    130755540..130768134
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011510793.3 → XP_011509095.1  APC membrane recruitment protein 3 isoform X1

    See identical proteins and their annotated locations for XP_011509095.1

    UniProtKB/Swiss-Prot
    B7ZLH6, Q8N944
    Conserved Domains (2) summary
    PRK07764
    Location:510 → 671
    PRK07764; DNA polymerase III subunits gamma and tau; Validated
    pfam09422
    Location:237 → 447
    WTX; WTX protein

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    131189705..131202299
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054341016.1 → XP_054196991.1  APC membrane recruitment protein 3 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8N944.2 GenPept UniProtKB/Swiss-Prot:Q8N944

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