PLEKHA3 pleckstrin homology domain containing A3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PLEKHA3provided by HGNC
Official Full Name: pleckstrin homology domain containing A3provided by HGNC
Primary source: HGNC:HGNC:14338
See related: Ensembl:ENSG00000116095 MIM:607774; AllianceGenome:HGNC:14338
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: FAPP1
Summary: Enables identical protein binding activity and phosphatidylinositol-4-phosphate binding activity. Predicted to be involved in endosome organization; receptor recycling; and retrograde transport, endosome to Golgi. Located in Golgi apparatus. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in testis (RPKM 2.6), adrenal (RPKM 2.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2q31.2

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (178480457..178516463)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (178963251..178999257)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (179345184..179381190)

Chromosome 2 - NC_000002.12 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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The activity of Sac1 across ER-TGN contact sites requires the four-phosphate-adaptor-protein-1.
Title: The activity of Sac1 across ER-TGN contact sites requires the four-phosphate-adaptor-protein-1.
Binding sites on Fapp1 protein for Arf1 and phosphatidylinositol-4-phosphate minimally overlap
Title: Interaction of Fapp1 with Arf1 and PI4P at a membrane surface: an example of coincidence detection.
We report the complete (1)H, (13)C and (15)N resonance assignments of the FAPP1-PH in its free state and those induced by PtdIns(4)P or detergent micelles.
Title: Secondary structure and 1H, 13C, 15N resonance assignments of the Golgi-specific PH domain of FAPP1.
Molecular basis of phosphatidylinositol 4-phosphate and ARF1 GTPase recognition by the FAPP1 pleckstrin homology (PH) domain.
Title: Molecular basis of phosphatidylinositol 4-phosphate and ARF1 GTPase recognition by the FAPP1 pleckstrin homology (PH) domain.
The micelle-bound structure of the FAPP1 pleckstrin homology domain reveals how its prominent wedge independently tubulates Golgi membranes by leaflet penetration.
Title: Structural basis of wedging the Golgi membrane by FAPP pleckstrin homology domains.
Data show that FAPP1 and 2 are essential components of a phosphatidylinositol 4-phosphate- and ADP-ribosylation factor-regulated machinery that controls generation of constitutive post-Golgi carriers.
Title: FAPPs control Golgi-to-cell-surface membrane traffic by binding to ARF and PtdIns(4)P.

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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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of pleckstrin homology domain containing, family A, member 3 (PLEKHA3) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH66213 (e-PCR)
- UniSTS:58660

SHGC-83589 (e-PCR)
- UniSTS:100942

RH93301 (e-PCR)
- UniSTS:85495

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables phosphatidylinositol-4-phosphate binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in endosome organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in receptor recycling	IBA Inferred from Biological aspect of Ancestor more info
involved_in retrograde transport, endosome to Golgi	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info
located_in Golgi membrane	TAS Traceable Author Statement more info
located_in cytosol	IEA Inferred from Electronic Annotation more info
is_active_in early endosome	IBA Inferred from Biological aspect of Ancestor more info
is_active_in recycling endosome	IBA Inferred from Biological aspect of Ancestor more info
is_active_in trans-Golgi network	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: pleckstrin homology domain-containing family A member 3

Names: FAPP-1; PH domain-containing family A member 3; four-phosphate-adaptor protein 1; phosphatidylinositol-four-phosphate adapter protein 1; phosphoinositol 4-phosphate adapter protein 1; pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3

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.