Seroatlas · Human Serome Atlas

PLEKHA1

Pleckstrin homology domain-containing family A member 1

Also known as: PKHA1_HUMAN, TAPP1

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q9HB21
Gene
PLEKHA1
Ensembl
ENSG00000107679
Chromosome
10
Canonical length
404 aa
Protein class
Predicted intracellular proteins
Subcellular location
Nucleoplasm,Cytosol

OverviewNCBI Gene

This gene encodes a pleckstrin homology domain-containing adapter protein. The encoded protein is localized to the plasma membrane where it specifically binds phosphatidylinositol 3,4-bisphosphate. This protein may be involved in the formation of signaling complexes in the plasma membrane. Polymorphisms in this gene are associated with age-related macular degeneration. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 5.[provided by RefSeq, Sep 2010]

Canonical amino-acid sequenceUniProt

404 residues, UniProt reviewed canonical sequence.

>Q9HB21|PLEKHA1
     1  MPYVDRQNRI CGFLDIEENE NSGKFLRRYF ILDTREDSFV WYMDNPQNLP SGSSRVGAIK
    61  LTYISKVSDA TKLRPKAEFC FVMNAGMRKY FLQANDQQDL VEWVNVLNKA IKITVPKQSD
   121  SQPNSDNLSR HGECGKKQVS YRTDIVGGVP IITPTQKEEV NECGESIDRN NLKRSQSHLP
   181  YFTPKPPQDS AVIKAGYCVK QGAVMKNWKR RYFQLDENTI GYFKSELEKE PLRVIPLKEV
   241  HKVQECKQSD IMMRDNLFEI VTTSRTFYVQ ADSPEEMHSW IKAVSGAIVA QRGPGRSASS
   301  EHPPGPSESK HAFRPTNAAT ATSHSTASRS NSLVSTFTME KRGFYESLAK VKPGNFKVQT
   361  VSPREPASKV TEQALLRPQS KNGPQEKDCD LVDLDDASLP VSDV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PLEKHA1 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
Cell surface
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.49
Highest tissue expression
63 nTPM

Expression across tissuesHPA

Tissue

  • skin: 63 nTPM
  • tongue: 54 nTPM
  • testis: 38 nTPM
  • esophagus: 37 nTPM
  • kidney: 37 nTPM
  • liver: 36 nTPM

Single-cell type

  • late spermatids: 635 nCPM
  • proximal tubule cells: 291 nCPM
  • early spermatids: 289 nCPM
  • loop of henle epithelial cells: 273 nCPM
  • lactotrophs: 271 nCPM
  • oligodendrocytes: 214 nCPM

Immune cell

  • gdT-cell: 28 nTPM
  • naive CD4 T-cell: 26 nTPM
  • naive CD8 T-cell: 23 nTPM
  • memory CD8 T-cell: 23 nTPM
  • NK-cell: 22 nTPM
  • MAIT T-cell: 18 nTPM

Brain region

  • white matter: 93 nTPM
  • cerebral cortex: 83 nTPM
  • basal ganglia: 60 nTPM
  • amygdala: 47 nTPM
  • midbrain: 46 nTPM
  • hypothalamus: 46 nTPM

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)
0.73
gnomAD pLI
0
gnomAD missense Z
0.66
DepMap mean gene effect
0.19
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% 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 PLEKHA1 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 PLEKHA1 as an antibody target. Whether an autoantibody or antibody against PLEKHA1 could matter depends on whether native PLEKHA1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PLEKHA1 is annotated at the cell surface, where native PLEKHA1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label PLEKHA1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/PLEKHA1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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