Seroatlas · Human Serome Atlas

GUCA1A

Guanylyl cyclase-activating protein 1

Also known as: C6orf131, COD3, CORD14, dJ139D8.6, ENSG00000290147, GCAP, GCAP1, GUC1A_HUMAN, GUCA, GUCA1

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

Protein identityUniProt · HPA

UniProt accession
P43080
Gene
GUCA1A
Ensembl
ENSG00000048545
Chromosome
6
Canonical length
201 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Plasma membrane
Quaternary structure
Homodimer

OverviewNCBI Gene

This gene encodes an enzyme that plays a role in the recovery of retinal photoreceptors from photobleaching. This enzyme promotes the activity of retinal guanylyl cyclase-1 (GC1) at low calcium concentrations and inhibits GC1 at high calcium concentrations. Mutations in this gene can cause cone dystrophy 3 and code-rod dystrophy 14. provided by RefSeq, Jul 2020]

Canonical amino-acid sequenceUniProt

201 residues, UniProt reviewed canonical sequence.

>P43080|GUCA1A
     1  MGNVMEGKSV EELSSTECHQ WYKKFMTECP SGQLTLYEFR QFFGLKNLSP SASQYVEQMF
    61  ETFDFNKDGY IDFMEYVAAL SLVLKGKVEQ KLRWYFKLYD VDGNGCIDRD ELLTIIQAIR
   121  AINPCSDTTM TAEEFTDTVF SKIDVNGDGE LSLEEFIEGV QKDQMLLDTL TRSLDLTRIV
   181  RRLQNGEQDE EGADEAAEAA G

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GUCA1A 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)
0.35
Highest tissue expression
703 nTPM

Expression across tissuesHPA

Tissue

  • retina: 703 nTPM
  • basal ganglia: 17 nTPM
  • hypothalamus: 9 nTPM
  • amygdala: 5.1 nTPM
  • hippocampal formation: 3.2 nTPM
  • midbrain: 2.8 nTPM

Single-cell type

  • cone photoreceptor cells: 54 nCPM
  • rod photoreceptor cells: 38 nCPM
  • other brain neurons: 7.9 nCPM
  • late spermatids: 3.2 nCPM
  • brain inhibitory neurons: 2.5 nCPM
  • retinal amacrine cells: 2.1 nCPM

Immune cell

  • plasmacytoid DC: 4.9 nTPM
  • neutrophil: 0.6 nTPM
  • basophil: 0.5 nTPM
  • naive B-cell: 0.3 nTPM
  • gdT-cell: 0.2 nTPM
  • memory B-cell: 0.2 nTPM

Brain region

  • hypothalamus: 13 nTPM
  • basal ganglia: 7.4 nTPM
  • cerebral cortex: 3.5 nTPM
  • medulla oblongata: 3.5 nTPM
  • midbrain: 3.2 nTPM
  • amygdala: 3.1 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GUCA1A.

Disease | AllUniProt

Conditions GUCA1A is implicated in, by any mechanism.

Disease | GeneticClinVar

7 pathogenic / likely-pathogenic of 185 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Cone dystrophy 3

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)
1.42
gnomAD pLI
0
gnomAD missense Z
0.37

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 GUCA1A as an antibody target. Whether an autoantibody or antibody against GUCA1A could matter depends on whether native GUCA1A is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

GUCA1A 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 GUCA1A as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/GUCA1A. 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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