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

    Gene ID: 205147, updated on 10-Dec-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, Dec 2024]
    Expression
    Biased expression in brain (RPKM 2.4), stomach (RPKM 0.3) and 3 other tissues See more
    Orthologs
    mouse all
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (130755540..130768134)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (131189705..131202299)
    RS_2024_09 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)

    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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    NEW Try the new Transcript table

    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_2024_08

    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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