Seroatlas · Human Serome Atlas

PLEKHD1

Pleckstrin homology domain-containing family D member 1

Also known as: PLHD1_HUMAN, UPF0639

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

Protein identityUniProt · HPA

UniProt accession: A6NEE1
Gene: PLEKHD1
Ensembl: ENSG00000175985
Chromosome: 14
Canonical length: 506 aa
Protein class: Predicted intracellular proteins

OverviewNCBI Gene

No narrative summary is available for PLEKHD1 in this catalog release; identity and structured annotations are shown without generated factual claims.

Canonical amino-acid sequenceUniProt

506 residues, UniProt reviewed canonical sequence.

>A6NEE1|PLEKHD1
     1  MFTSKSNSVS PSPSLEQADS DALDISTKVQ LYGVLWKRPF GRPSAKWSRR FFIIKESFLL
    61  YYSESEKKSF ETNKYFNIHP KGVIPLGGCL VEPKEEPSMP YAMKISHQDF HGNILLAAES
   121  EFEQTQWLEM LQESGKVTWK NAQLGEAMIK SLEAQGLQLA KEKQEYLDKL MEETEELCLQ
   181  REQREELERL NQVLEAEKQQ FEEVVQELRM EQEQIKRELE LTARCLKGVE QEKKELRHLT
   241  ESLQQTLEEL SIEKKKTLEM LEENENHLQT LANQSEQPPP SGGLHSNLRQ IEEKMQQLLE
   301  EKLLAEKRMK ENEERSRALE EEREFYSSQS QALQNSLQEL TAEKQQAERE LKAEVKVRMD
   361  LERRLREAEG ALRSLEQGLN SKVRNKEKEE RMRADVSHLK RFFEECIRNA ELEAKMPVIM
   421  KNSVYIHKAA TRRIKSCRFH RRRSSTSWND MKPSQSFMTS QLDANNMEEL KEVAKRLSRD
   481  QRFRESIYHI MATQPGAPSA LSRGGK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PLEKHD1 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: Unknown
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.43
Highest tissue expression: 9.5 nTPM

Expression across tissuesHPA

Tissue

cerebellum: 9.5 nTPM
retina: 8.1 nTPM
parathyroid gland: 5.6 nTPM
thyroid gland: 2.1 nTPM
epididymis: 1.5 nTPM
salivary gland: 1.5 nTPM

Single-cell type

retinal horizontal cells: 365 nCPM
retinal bipolar cells: 90 nCPM
distal convoluted tubule cells: 38 nCPM
pdcs: 29 nCPM
retinal ganglion cells: 23 nCPM
corticotrophs: 16 nCPM

Immune cell

plasmacytoid DC: 3.7 nTPM
neutrophil: 0.2 nTPM
basophil: 0.1 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM
gdT-cell: 0 nTPM

Brain region

cerebellum: 21 nTPM
thalamus: 14 nTPM
midbrain: 11 nTPM
cerebral cortex: 9.5 nTPM
pons: 8.1 nTPM
medulla oblongata: 7.2 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): 0.74
gnomAD pLI: 0
gnomAD missense Z: 1.65
DepMap mean gene effect: -0.03
DepMap dependency class: selective

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).

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads PLEKHD1 as an antibody target. Whether an autoantibody or antibody against PLEKHD1 could matter depends on whether native PLEKHD1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PLEKHD1 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 PLEKHD1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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