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

Gene ID: 51054, updated on 25-Jan-2022

Summary

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:ENSG00000134297 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, Nov 2021]
Expression
Ubiquitous expression in fat (RPKM 3.1), placenta (RPKM 1.7) and 25 other tissues See more
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Genomic context

See PLEKHA8P1 in Genome Data Viewer
Location:
12q12
Exon count:
3
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (45173034..45216006, complement)
105.20201022 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 small RNA binding exonuclease protection factor La like 3, pseudogene Neighboring gene RNA, 5S ribosomal pseudogene 361 Neighboring gene carbonyl reductase 1 pseudogene Neighboring gene anoctamin 6 Neighboring gene uncharacterized LOC105369743 Neighboring gene mesoderm development LRP chaperone pseudogene

Genomic regions, transcripts, and products

Expression

  • 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
enables ceramide 1-phosphate transfer activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
involved_in ER to Golgi ceramide transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
involved_in intermembrane lipid transfer IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

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: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    45173034..45216006 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.
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