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

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: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

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_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D12S1314 (e-PCR)
- UniSTS:14354

stSG67529 (e-PCR)
- UniSTS:181792

RH92407 (e-PCR)
- UniSTS:86780

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

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

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

NC_000012.12 Reference GRCh38.p14 Primary Assembly

Range

45173034..45216006 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

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

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.