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    PLEKHA8P1 pleckstrin homology domain containing A8 pseudogene 1 [ Homo sapiens (human) ]

    Gene ID: 51054, updated on 17-Jun-2024

    Summary

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    Official Symbol
    PLEKHA8P1provided by HGNC
    Official Full Name
    pleckstrin homology domain containing A8 pseudogene 1provided by HGNC
    Primary source
    HGNC:HGNC:30222
    See related
    Ensembl:ENSG00000293316 AllianceGenome:HGNC:30222
    Gene type
    pseudo
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FAPP2; FAPP-2; hFAPP2; PLEKHA8; PLEKHA9
    Summary
    Predicted to enable ceramide 1-phosphate binding activity and ceramide 1-phosphate transfer activity. Predicted to be involved in ER to Golgi ceramide transport and intermembrane lipid transfer. Predicted to be active in cytosol and membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in fat (RPKM 3.1), placenta (RPKM 1.7) and 25 other tissues See more
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    Genomic context

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    See PLEKHA8P1 in Genome Data Viewer
    Location:
    12q12
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (45173034..45216006, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (45131656..45174648, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (45566817..45609789, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene DBX2 antisense RNA 1 Neighboring gene small RNA binding exonuclease protection factor La like 3, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6225 Neighboring gene RNA, 5S ribosomal pseudogene 361 Neighboring gene carbonyl reductase 1 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6226 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4373 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6227 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:45651043-45651543 Neighboring gene anoctamin 6 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:45764945-45765482 Neighboring gene uncharacterized LOC105369743 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:45826556-45827464 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:45827465-45828371 Neighboring gene MESD pseudogene 1

    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. PLEKHA8P1 Promotes Tumor Progression and Indicates Poor Prognosis of Liver Cancer. Lee J, et al. Int J Mol Sci, 2021 Jul 16. PMID 34299245, Free PMC Article
    2. Identification of pleckstrin-homology-domain-containing proteins with novel phosphoinositide-binding specificities. Dowler S, et al. Biochem J, 2000 Oct 1. PMID 11001876, Free PMC Article
    3. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. Lamesch P, et al. Genomics, 2007 Mar. PMID 17207965, Free PMC Article
    4. The BioPlex Network: A Systematic Exploration of the Human Interactome. Huttlin EL, et al. Cell, 2015 Jul 16. PMID 26186194, 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 (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. PLEKHA8P1 Promotes Tumor Progression and Indicates Poor Prognosis of Liver Cancer.
      Title: PLEKHA8P1 Promotes Tumor Progression and Indicates Poor Prognosis of Liver Cancer.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    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

    Other Names

    • PH domain-containing family A member 8
    • Phosphatidylinositol-four-phosphate adapter protein 2
    • Phosphoinositol 4-phosphate adapter protein 2
    • Pleckstrin homology domain-containing family A member 8
    • Serologically defined breast cancer antigen NY-BR-86
    • pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 9
    • pleckstrin homology domain containing, family A member 8 pseudogene 1
    • putative glycolipid transfer protein

    Clone Names

    • FLJ14156

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ceramide 1-phosphate binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ceramide 1-phosphate transfer activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in ceramide 1-phosphate transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in ceramide transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in intermembrane lipid transfer IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    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.

    RNA

    1. NR_037144.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AF103731, BU741550
      Related
      ENST00000256692.6

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      45173034..45216006 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      45131656..45174648 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_015899.1: Suppressed sequence

      Description
      NM_015899.1: This RefSeq was permanently suppressed because it is now thought that this gene is a pseudogene.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O95397.1 GenPept UniProtKB/Swiss-Prot:O95397

    Gene LinkOut

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

    Chemical Information
    Molecular Biology Databases
    Research Materials