Seroatlas · Human Serome Atlas

PDE6A

Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha

Also known as: PDE6A_HUMAN, PDEA, RP43

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

Protein identityUniProt · HPA

UniProt accession
P16499
Gene
PDE6A
Ensembl
ENSG00000132915
Chromosome
5
Canonical length
860 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Predicted intracellular proteins

OverviewNCBI Gene

This gene encodes the cyclic-GMP (cGMP)-specific phosphodiesterase 6A alpha subunit, expressed in cells of the retinal rod outer segment. The phosphodiesterase 6 holoenzyme is a heterotrimer composed of an alpha, beta, and two gamma subunits. cGMP is an important regulator of rod cell membrane current, and its dynamic concentration is established by phosphodiesterase 6A cGMP hydrolysis and guanylate cyclase cGMP synthesis. The protein is a subunit of a key phototransduction enzyme and participates in processes of transmission and amplification of the visual signal. Mutations in this gene have been identified as one cause of autosomal recessive retinitis pigmentosa. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

860 residues, UniProt reviewed canonical sequence.

>P16499|PDE6A
     1  MGEVTAEEVE KFLDSNIGFA KQYYNLHYRA KLISDLLGAK EAAVDFSNYH SPSSMEESEI
    61  IFDLLRDFQE NLQTEKCIFN VMKKLCFLLQ ADRMSLFMYR TRNGIAELAT RLFNVHKDAV
   121  LEDCLVMPDQ EIVFPLDMGI VGHVAHSKKI ANVPNTEEDE HFCDFVDILT EYKTKNILAS
   181  PIMNGKDVVA IIMAVNKVDG SHFTKRDEEI LLKYLNFANL IMKVYHLSYL HNCETRRGQI
   241  LLWSGSKVFE ELTDIERQFH KALYTVRAFL NCDRYSVGLL DMTKQKEFFD VWPVLMGEVP
   301  PYSGPRTPDG REINFYKVID YILHGKEDIK VIPNPPPDHW ALVSGLPAYV AQNGLICNIM
   361  NAPAEDFFAF QKEPLDESGW MIKNVLSMPI VNKKEEIVGV ATFYNRKDGK PFDEMDETLM
   421  ESLTQFLGWS VLNPDTYESM NKLENRKDIF QDIVKYHVKC DNEEIQKILK TREVYGKEPW
   481  ECEEEELAEI LQAELPDADK YEINKFHFSD LPLTELELVK CGIQMYYELK VVDKFHIPQE
   541  ALVRFMYSLS KGYRKITYHN WRHGFNVGQT MFSLLVTGKL KRYFTDLEAL AMVTAAFCHD
   601  IDHRGTNNLY QMKSQNPLAK LHGSSILERH HLEFGKTLLR DESLNIFQNL NRRQHEHAIH
   661  MMDIAIIATD LALYFKKRTM FQKIVDQSKT YESEQEWTQY MMLEQTRKEI VMAMMMTACD
   721  LSAITKPWEV QSQVALLVAA EFWEQGDLER TVLQQNPIPM MDRNKADELP KLQVGFIDFV
   781  CTFVYKEFSR FHEEITPMLD GITNNRKEWK ALADEYDAKM KVQEEKKQKQ QSAKSAAAGN
   841  QPGGNPSPGG ATTSKSCCIQ

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PDE6A 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)
0.27
Highest tissue expression
1,001 nTPM

Expression across tissuesHPA

Tissue

  • retina: 1,001 nTPM
  • epididymis: 15 nTPM
  • pituitary gland: 1.6 nTPM
  • testis: 1.3 nTPM
  • colon: 1.1 nTPM
  • esophagus: 0.8 nTPM

Single-cell type

  • rod photoreceptor cells: 6,364 nCPM
  • retinal ganglion cells: 263 nCPM
  • retinal horizontal cells: 162 nCPM
  • epididymal principal cells: 92 nCPM
  • late primary spermatocytes: 81 nCPM
  • retinal amacrine cells: 70 nCPM

Immune cell

  • basophil: 0.9 nTPM
  • neutrophil: 0.5 nTPM
  • naive B-cell: 0.2 nTPM
  • NK-cell: 0.2 nTPM
  • classical monocyte: 0.1 nTPM
  • eosinophil: 0.1 nTPM

Brain region

  • cerebellum: 4.5 nTPM
  • white matter: 3.8 nTPM
  • cerebral cortex: 3.7 nTPM
  • hippocampal formation: 3.4 nTPM
  • amygdala: 3.1 nTPM
  • basal ganglia: 3.1 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PDE6A.

Disease | AllUniProt

Conditions PDE6A is implicated in, by any mechanism.

Disease | GeneticClinVar

125 pathogenic / likely-pathogenic of 963 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)
1.12
gnomAD pLI
0
gnomAD missense Z
-0.43
DepMap mean gene effect
0.08
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% 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

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads PDE6A as an antibody target. Whether an autoantibody or antibody against PDE6A could matter depends on whether native PDE6A is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PDE6A is annotated at the cell surface, where native PDE6A 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 PDE6A as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/PDE6A. 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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