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    PRIMA1 proline rich membrane anchor 1 [ Homo sapiens (human) ]

    Gene ID: 145270, updated on 5-Mar-2024

    Summary

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    Official Symbol
    PRIMA1provided by HGNC
    Official Full Name
    proline rich membrane anchor 1provided by HGNC
    Primary source
    HGNC:HGNC:18319
    See related
    Ensembl:ENSG00000175785 MIM:613851; AllianceGenome:HGNC:18319
    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
    PRIMA
    Summary
    The product of this gene functions to organize acetylcholinesterase (AChE) into tetramers, and to anchor AChE at neural cell membranes. [provided by RefSeq, Nov 2008]
    Expression
    Broad expression in esophagus (RPKM 7.2), endometrium (RPKM 3.8) and 19 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    14q32.12
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (93718298..93788994, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (87945588..88016460, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (94184644..94254831, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene unc-79 homolog, NALCN channel complex subunit Neighboring gene RNA, U6 small nuclear 1258, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:93956171-93956670 Neighboring gene NANOG hESC enhancer GRCh37_chr14:94025779-94026281 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr14:94153830-94154524 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:94154525-94155218 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:94155219-94155912 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:94155913-94156606 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:94173027-94173527 Neighboring gene uncharacterized LOC124903367 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:94215113-94215986 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:94226183-94226683 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:94245793-94246294 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:94254197-94254908 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:94254909-94255622 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:94255623-94256334 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:94290479-94291180 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:94291181-94291881 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr14:94306216-94306754 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr14:94346035-94346536 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr14:94346537-94347036 Neighboring gene uncharacterized LOC105370631 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:94357084-94358061 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:94359097-94359871 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:94359872-94360645 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:94362555-94363054 Neighboring gene FAM181A antisense RNA 1 Neighboring gene family with sequence similarity 181 member A

    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. Aberrant DNA Methylation of rDNA and PRIMA1 in Borderline Personality Disorder. Teschler S, et al. Int J Mol Sci, 2016 Jan 5. PMID 26742039, Free PMC Article
    2. N-linked glycosylation of proline-rich membrane anchor (PRiMA) is not required for assembly and trafficking of globular tetrameric acetylcholinesterase. Chan WK, et al. Neurosci Lett, 2012 Aug 8. PMID 22750213
    3. Co-localization of PRiMA with acetylcholinesterase in cholinergic neurons of rat brain: an immunocytochemical study. Henderson Z, et al. Brain Res, 2010 Jul 16. PMID 20471375
    4. Regulation of PRiMA: membrane anchor of acetylcholinesterase (AChE) in neuron and muscle. Xie HQ, et al. Chem Biol Interact, 2005 Dec 15. PMID 16429581
    5. p53 reactivation with induction of massive apoptosis-1 (PRIMA-1) inhibits amyloid aggregation of mutant p53 in cancer cells. Rangel LP, et al. J Biol Chem, 2019 Mar 8. PMID 30602570, Free PMC Article

    See all (19) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. PRIMA-1 can rescue amyloid-state p53 mutants
      Title: p53 reactivation with induction of massive apoptosis-1 (PRIMA-1) inhibits amyloid aggregation of mutant p53 in cancer cells.
    2. Methylation of SFRP1, SFRP2, SDC2, and PRIMA1 promoter sequences was observed in 85.1%, 72.3%, 89.4%, and 80.9% of plasma samples from patients with Colorectal cancer and 89.2%, 83.8%, 81.1% and 70.3% from adenoma patients, respectively.
      Title: Colorectal adenoma and cancer detection based on altered methylation pattern of SFRP1, SFRP2, SDC2, and PRIMA1 in plasma samples.
    3. PRIMA-1 could cause the demethylation of TP73, through DNMT1 depletion, to subsequently enhance the unfolded protein response
      Title: PRIMA-1 targets the vulnerability of multiple myeloma of deregulated protein homeostasis through the perturbation of ER stress via p73 demethylation.
    4. Silencing of CD24 enhanced restoration of PRIMA-1-induced mutant p53 in endogenous TP53(P223L/V274F) DU145 cells.
      Title: Silencing of CD24 Enhances the PRIMA-1-Induced Restoration of Mutant p53 in Prostate Cancer Cells.
    5. The results suggest that aberrant methylation of rDNA and PRIMA1 is associated with the pathogenesis of Borderline Personality Disorder.
      Title: Aberrant DNA Methylation of rDNA and PRIMA1 in Borderline Personality Disorder.
    6. Hypermethylation of the selected markers (MAL, PRIMA1, PTGDR and SFRP1) can result in reduced gene expression and may contribute to the formation of colorectal cancer.
      Title: DNA hypermethylation and decreased mRNA expression of MAL, PRIMA1, PTGDR and SFRP1 in colorectal adenoma and cancer.
    7. The autophagic potential of PRIMA-1 could be modulated in a different way by the presence of wild type or mutant p53.
      Title: PRIMA-1 induces autophagy in cancer cells carrying mutant or wild type p53.
    8. By using site-directed mutagenesis, the asparagine-43 was identified to be the N-linked glycosylation site of PRiMA. Abolishing glycosylation on mouse PRiMA appeared not to affect its assembly with AChE(T).
      Title: N-linked glycosylation of proline-rich membrane anchor (PRiMA) is not required for assembly and trafficking of globular tetrameric acetylcholinesterase.
    9. A strong association of AChE with PRiMA at the plasma membrane is therefore a feature specific to principal cholinergic neurons that innervate the central nervous system.
      Title: Co-localization of PRiMA with acetylcholinesterase in cholinergic neurons of rat brain: an immunocytochemical study.
    10. PRiMA in neurons has a role in targeting acetylcholinesterase to membrane rafts
      Title: Targeting acetylcholinesterase to membrane rafts: a function mediated by the proline-rich membrane anchor (PRiMA) in neurons.
    Submit: New GeneRIF Correction See all GeneRIFs (12)

    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

    EBI GWAS Catalog

    Description
    A genome-wide association study of caffeine-related sleep disturbance: confirmation of a role for a common variant in the adenosine receptor.
    EBI GWAS Catalog

    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

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in anchoring junction IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in synapse IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    proline-rich membrane anchor 1
    Names
    acetylcholinesterase membrane anchor precursor PRiMA

    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.

    Genomic

    1. NG_009069.1 RefSeqGene

      Range
      4936..75123
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_178013.4 → NP_821092.1  proline-rich membrane anchor 1 precursor

      See identical proteins and their annotated locations for NP_821092.1

      Status: REVIEWED

      Source sequence(s)
      AL132642, AL157858, AY225516, BU726715
      Consensus CDS
      CCDS9912.1
      UniProtKB/Swiss-Prot
      Q86XR5, Q86XR6
      Related
      ENSP00000376848.1, ENST00000393140.6
      Conserved Domains (1) summary
      pfam16101
      Location:37 → 153
      PRIMA1; Proline-rich membrane anchor 1

    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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      93718298..93788994 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011536456.3 → XP_011534758.1  proline-rich membrane anchor 1 isoform X1

      See identical proteins and their annotated locations for XP_011534758.1

      UniProtKB/Swiss-Prot
      Q86XR5, Q86XR6
      Conserved Domains (1) summary
      pfam16101
      Location:37 → 153
      PRIMA1; Proline-rich membrane anchor 1

    2. XM_047430966.1 → XP_047286922.1  proline-rich membrane anchor 1 isoform X2

      Related
      ENSP00000434370.1, ENST00000477603.5

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187601.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      832860..903661 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054328955.1 → XP_054184930.1  proline-rich membrane anchor 1 isoform X1

      UniProtKB/Swiss-Prot
      Q86XR5, Q86XR6

    2. XM_054328956.1 → XP_054184931.1  proline-rich membrane anchor 1 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      87945588..88016460 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054375432.1 → XP_054231407.1  proline-rich membrane anchor 1 isoform X1

      UniProtKB/Swiss-Prot
      Q86XR5, Q86XR6

    2. XM_054375433.1 → XP_054231408.1  proline-rich membrane anchor 1 isoform X2

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_178004.1: Suppressed sequence

      Description
      NM_178004.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86XR5.2 GenPept UniProtKB/Swiss-Prot:Q86XR5

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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