PLEKHA4
Pleckstrin homology domain-containing family A member 4
Also known as: PEPP1, PKHA4_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9H4M7
- Gene
- PLEKHA4
- Ensembl
- ENSG00000105559
- Chromosome
- 19
- Canonical length
- 779 aa
- Protein class
- Predicted intracellular proteins
- Subcellular location
- Plasma membrane,Cytokinetic bridge,Centriolar satellite,Cytosol
OverviewNCBI Gene
This gene encodes a pleckstrin homology (PH) domain-containing protein. The PH domain is found near the N-terminus and contains a putative phosphatidylinositol 3, 4, 5-triphosphate-binding motif (PPBM). Elevated expression of this gene has been observed in some melanomas. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2017]
Canonical amino-acid sequenceUniProt
779 residues, UniProt reviewed canonical sequence.
>Q9H4M7|PLEKHA4
1 MEGSRPRSSL SLASSASTIS SLSSLSPKKP TRAVNKIHAF GKRGNALRRD PNLPVHIRGW
61 LHKQDSSGLR LWKRRWFVLS GHCLFYYKDS REESVLGSVL LPSYNIRPDG PGAPRGRRFT
121 FTAEHPGMRT YVLAADTLED LRGWLRALGR ASRAEGDDYG QPRSPARPQP GEGPGGPGGP
181 PEVSRGEEGR ISESPEVTRL SRGRGRPRLL TPSPTTDLHS GLQMRRARSP DLFTPLSRPP
241 SPLSLPRPRS APARRPPAPS GDTAPPARPH TPLSRIDVRP PLDWGPQRQT LSRPPTPRRG
301 PPSEAGGGKP PRSPQHWSQE PRTQAHSGSP TYLQLPPRPP GTRASMVLLP GPPLESTFHQ
361 SLETDTLLTK LCGQDRLLRR LQEEIDQKQE EKEQLEAALE LTRQQLGQAT REAGAPGRAW
421 GRQRLLQDRL VSVRATLCHL TQERERVWDT YSGLEQELGT LRETLEYLLH LGSPQDRVSA
481 QQQLWMVEDT LAGLGGPQKP PPHTEPDSPS PVLQGEESSE RESLPESLEL SSPRSPETDW
541 GRPPGGDKDL ASPHLGLGSP RVSRASSPEG RHLPSPQLGT KAPVARPRMS AQEQLERMRR
601 NQECGRPFPR PTSPRLLTLG RTLSPARRQP DVEQRPVVGH SGAQKWLRSS GSWSSPRNTT
661 PYLPTSEGHR ERVLSLSQAL ATEASQWHRM MTGGNLDSQG DPLPGVPLPP SDPTRQETPP
721 PRSPPVANSG STGFSRRGSG RGGGPTPWGP AWDAGIAPPV LPQDEGAWPL RVTLLQSSFLocalizationUniProt · AlphaFold · HPA
Whether an antibody against PLEKHA4 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
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.59
- Highest tissue expression
- 34 nTPM
Expression across tissuesHPA
Tissue
- blood vessel: 34 nTPM
- ovary: 27 nTPM
- colon: 26 nTPM
- heart muscle: 24 nTPM
- adipose tissue: 22 nTPM
- endometrium: 20 nTPM
Single-cell type
- schwann cells: 134 nCPM
- epididymal basal cells: 104 nCPM
- leydig cells: 66 nCPM
- ovarian stromal cells: 66 nCPM
- salivary myoepithelial cells: 63 nCPM
- epididymal clear cells: 61 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- medulla oblongata: 14 nTPM
- midbrain: 11 nTPM
- thalamus: 7.8 nTPM
- hypothalamus: 6.5 nTPM
- spinal cord: 6.3 nTPM
- pons: 5.8 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about PLEKHA4.
Disease | ImmuneIEDB
Conditions an epitope on PLEKHA4 was assayed in.
- glioblastoma T cell
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)
- 0.82
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.61
- DepMap mean gene effect
- -0.04
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- positive regulation of canonical Wnt signaling pathway
- positive regulation of Wnt signaling pathway, planar cell polarity pathway
Molecular functions
- identical protein binding
- phosphatidylinositol-3,4-bisphosphate binding
- phosphatidylinositol-3,5-bisphosphate binding
- phosphatidylinositol-3-phosphate binding
- phosphatidylinositol-4,5-bisphosphate binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads PLEKHA4 as an antibody target. Whether an autoantibody or antibody against PLEKHA4 could matter depends on whether native PLEKHA4 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
PLEKHA4 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 PLEKHA4 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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