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

Gene ID: 51054, updated on 3-Nov-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 ceramide transport and intermembrane lipid transfer. Predicted to be located in cytoplasm. Predicted to be active in cytosol. [provided by Alliance of Genome Resources, Nov 2024]
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_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (45173034..45216006, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (45131656..45174648, complement)
RS_2024_09 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 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. ER-export and ARFRP1/AP-1-dependent delivery of SARS-CoV-2 Envelope to lysosomes controls late stages of viral replication. Pearson GJ, et al. Sci Adv, 2024 Apr 5. PMID 38569033, Free PMC Article
  4. 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
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. Huttlin EL, et al. Cell, 2015 Jul 16. PMID 26186194, Free PMC Article

See all (11) 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 Variation Viewer (GRCh37.p13)

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
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
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
    ENST00000256692.7

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_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