GUCA1A

guanylate cyclase activator 1A

Tier: Cilia-Associated Genes

Ensembl:
ENSG00000048545
UniProt:
P43080
OMIM:
600364
Synonyms:
C6ORF131, COD3, CORD14, DJ139D8.6, GCAP, GCAP-1, GCAP-I, GCAP1, GUCA, GUCA1

Ciliogenesis screen results (3 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Human ciliopathy phenotype:
cone-rod dystrophy; cone-rod dystrophy 14

Ciliopathy associations

  • Cone-Rod Dystrophy

References: PMID:15953638, PMID:15790869, PMID:38278208

Subcellular localization

No ciliary localization reported (cilia-associated gene).

References: PMID:9511175

Functional category

  • Ciliary assembly/disassembly
  • Signaling (Hedgehog, GPCRs, ion channels)

Function

Mutations in the GUCA1A gene cause Cone-Rod Dystrophy (PMID: 15953638, PMID:15790869).