Seroatlas · Human Serome Atlas

CNGA1

Cyclic nucleotide-gated channel alpha-1

Also known as: CNCG, CNCG1, CNG1, CNGA1_HUMAN, RCNC1, RCNCa, RP49

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

Protein identityUniProt · HPA

UniProt accession
P29973
Gene
CNGA1
Ensembl
ENSG00000198515
Chromosome
4
Canonical length
686 aa
Protein class
Disease related genes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters, Voltage-gated ion channels
Subcellular location
Nucleoplasm,Vesicles,Plasma membrane,Mitotic spindle,Primary cilium,Primary cilium tip,Mid piece,Principal piece

OverviewNCBI Gene

The protein encoded by this gene is involved in phototransduction. Along with another protein, the encoded protein forms a cGMP-gated cation channel in the plasma membrane, allowing depolarization of rod photoreceptors. This represents the last step in the phototransduction pathway. Defects in this gene are a cause of retinitis pigmentosa autosomal recessive (ARRP) disease. Multiple transcript variants have been found for this gene. [provided by RefSeq, Oct 2019]

Canonical amino-acid sequenceUniProt

686 residues, UniProt reviewed canonical sequence.

>P29973|CNGA1
     1  MKNNIINTQQ SFVTMPNVIV PDIEKEIRRM ENGACSSFSE DDDSASTSEE SENENPHARG
    61  SFSYKSLRKG GPSQREQYLP GAIALFNVNN SSNKDQEPEE KKKKKKEKKS KSDDKNENKN
   121  DPEKKKKKKD KEKKKKEEKS KDKKEEEKKE VVVIDPSGNT YYNWLFCITL PVMYNWTMVI
   181  ARACFDELQS DYLEYWLILD YVSDIVYLID MFVRTRTGYL EQGLLVKEEL KLINKYKSNL
   241  QFKLDVLSLI PTDLLYFKLG WNYPEIRLNR LLRFSRMFEF FQRTETRTNY PNIFRISNLV
   301  MYIVIIIHWN ACVFYSISKA IGFGNDTWVY PDINDPEFGR LARKYVYSLY WSTLTLTTIG
   361  ETPPPVRDSE YVFVVVDFLI GVLIFATIVG NIGSMISNMN AARAEFQARI DAIKQYMHFR
   421  NVSKDMEKRV IKWFDYLWTN KKTVDEKEVL KYLPDKLRAE IAINVHLDTL KKVRIFADCE
   481  AGLLVELVLK LQPQVYSPGD YICKKGDIGR EMYIIKEGKL AVVADDGVTQ FVVLSDGSYF
   541  GEISILNIKG SKAGNRRTAN IKSIGYSDLF CLSKDDLMEA LTEYPDAKTM LEEKGKQILM
   601  KDGLLDLNIA NAGSDPKDLE EKVTRMEGSV DLLQTRFARI LAEYESMQQK LKQRLTKVEK
   661  FLKPLIDTEF SSIEGPGAES GPIDST

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CNGA1 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
6
Mean surface accessibility (rSASA)
0.4
Highest tissue expression
245 nTPM

Expression across tissuesHPA

Tissue

  • retina: 245 nTPM
  • liver: 22 nTPM
  • epididymis: 8.8 nTPM
  • esophagus: 8.4 nTPM
  • small intestine: 5.8 nTPM
  • skin: 4.7 nTPM

Single-cell type

  • rod photoreceptor cells: 1,025 nCPM
  • esophageal apical cells: 337 nCPM
  • renal collecting duct principal cells: 164 nCPM
  • urothelial cells: 133 nCPM
  • breast lactating cells: 125 nCPM
  • papillary tip epithelial cells: 100 nCPM

Immune cell

  • plasmacytoid DC: 0.5 nTPM
  • memory CD8 T-cell: 0.3 nTPM
  • NK-cell: 0.3 nTPM
  • neutrophil: 0.2 nTPM
  • gdT-cell: 0.1 nTPM
  • naive B-cell: 0.1 nTPM

Brain region

  • cerebellum: 3.9 nTPM
  • basal ganglia: 3.6 nTPM
  • cerebral cortex: 2.4 nTPM
  • hypothalamus: 2.4 nTPM
  • choroid plexus: 2 nTPM
  • white matter: 1.9 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CNGA1.

Disease | AllUniProt

Conditions CNGA1 is implicated in, by any mechanism.

Disease | GeneticClinVar

82 pathogenic / likely-pathogenic of 536 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)
0.93
gnomAD pLI
0
gnomAD missense Z
0.44
DepMap mean gene effect
-0.04
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).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads CNGA1 as an antibody target. Whether an autoantibody or antibody against CNGA1 could matter depends on whether native CNGA1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CNGA1 is annotated at the cell surface, where native CNGA1 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 CNGA1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/CNGA1. 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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