PLEKHA3
Pleckstrin homology domain-containing family A member 3
Also known as: FAPP1, PKHA3_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9HB20
- Gene
- PLEKHA3
- Ensembl
- ENSG00000116095
- Chromosome
- 2
- Canonical length
- 300 aa
- Protein class
- Predicted intracellular proteins
- Subcellular location
- Golgi apparatus
OverviewNCBI Gene
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, Jul 2025]
Canonical amino-acid sequenceUniProt
300 residues, UniProt reviewed canonical sequence.
>Q9HB20|PLEKHA3
1 MEGVLYKWTN YLTGWQPRWF VLDNGILSYY DSQDDVCKGS KGSIKMAVCE IKVHSADNTR
61 MELIIPGEQH FYMKAVNAAE RQRWLVALGS SKACLTDTRT KKEKEISETS ESLKTKMSEL
121 RLYCDLLMQQ VHTIQEFVHH DENHSSPSAE NMNEASSLLS ATCNTFITTL EECVKIANAK
181 FKPEMFQLHH PDPLVSPVSP SPVQMMKRSV SHPGSCSSER SSHSIKEPVS TLHRLSQRRR
241 RTYSDTDSCS DIPLEDPDRP VHCSKNTLNG DLASATIPEE SRLMAKKQSE SEDTLPSFSSLocalizationUniProt · AlphaFold · HPA
Whether an antibody against PLEKHA3 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Other membrane
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.5
- Highest tissue expression
- 9.3 nTPM
Expression across tissuesHPA
Tissue
- testis: 9.3 nTPM
- retina: 7.4 nTPM
- adrenal gland: 6.2 nTPM
- heart muscle: 5.9 nTPM
- epididymis: 5.8 nTPM
- bone marrow: 5.1 nTPM
Single-cell type
- late spermatids: 739 nCPM
- early spermatids: 196 nCPM
- late primary spermatocytes: 125 nCPM
- smooth muscle cells: 101 nCPM
- parietal cells: 94 nCPM
- epididymal principal cells: 90 nCPM
Immune cell
- naive B-cell: 1.5 nTPM
- NK-cell: 0.8 nTPM
- memory CD4 T-cell: 0.7 nTPM
- neutrophil: 0.6 nTPM
- plasmacytoid DC: 0.6 nTPM
- basophil: 0.5 nTPM
Brain region
- cerebellum: 19 nTPM
- choroid plexus: 17 nTPM
- cerebral cortex: 15 nTPM
- white matter: 15 nTPM
- basal ganglia: 15 nTPM
- midbrain: 14 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about PLEKHA3.
Disease | GeneticClinVar
1 pathogenic / likely-pathogenic of 27 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.7
- gnomAD pLI
- 0.02
- gnomAD missense Z
- 1.41
- DepMap mean gene effect
- -0.03
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of PLEKHA3 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads PLEKHA3 as an antibody target. Whether an autoantibody or antibody against PLEKHA3 could matter depends on whether native PLEKHA3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
PLEKHA3 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label PLEKHA3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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