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    GUCA1A guanylate cyclase activator 1A [ Homo sapiens (human) ]

    Gene ID: 2978, updated on 2-Nov-2024

    Summary

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    Official Symbol
    GUCA1Aprovided by HGNC
    Official Full Name
    guanylate cyclase activator 1Aprovided by HGNC
    Primary source
    HGNC:HGNC:4678
    See related
    Ensembl:ENSG00000048545 MIM:600364; AllianceGenome:HGNC:4678
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    COD3; GCAP; GUCA; GCAP1; GUCA1; CORD14; GCAP-1; GCAP-I; C6orf131
    Summary
    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]
    Expression
    Restricted expression toward testis (RPKM 15.8) See more
    Orthologs
    mouse all
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    Genomic context

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    See GUCA1A in Genome Data Viewer
    Location:
    6p21.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (42173364..42180056)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (42001569..42008260)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (42141102..42147794)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17198 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17199 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17200 Neighboring gene chromosome 6 open reading frame 132 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:42104000-42104697 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:42108933-42109612 Neighboring gene GUCA1ANB-GUCA1A readthrough Neighboring gene ciliary microtubule inner protein 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:42133477-42134444 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:42146768-42147472 Neighboring gene guanylate cyclase activator 1B Neighboring gene CRISPRi-validated cis-regulatory element chr6.2919 Neighboring gene CRISPRi-validated cis-regulatory element chr6.2920 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:42183711-42184313 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:42184314-42184915 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24543 Neighboring gene mitochondrial ribosomal protein S10

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Factors that determine Ca2+ sensitivity of photoreceptor guanylyl cyclase. Kinetic analysis of the interaction between the Ca2+-bound and the Ca2+-free guanylyl cyclase activating proteins (GCAPs) and recombinant photoreceptor guanylyl cyclase 1 (RetGC-1). Peshenko IV, et al. Biochemistry, 2004 Nov 2. PMID 15504042
    2. Novel GUCA1A mutations suggesting possible mechanisms of pathogenesis in cone, cone-rod, and macular dystrophy patients. Kamenarova K, et al. Biomed Res Int, 2013. PMID 24024198, Free PMC Article
    3. Disease progression in autosomal dominant cone-rod dystrophy caused by a novel mutation (D100G) in the GUCA1A gene. Nong E, et al. Doc Ophthalmol, 2014 Feb. PMID 24352742, Free PMC Article
    4. Novel GUCA1A mutation identified in a Chinese family with cone-rod dystrophy. Huang L, et al. Neurosci Lett, 2013 Apr 29. PMID 23428504
    5. Identification of target binding site in photoreceptor guanylyl cyclase-activating protein 1 (GCAP1). Peshenko IV, et al. J Biol Chem, 2014 Apr 4. PMID 24567338, Free PMC Article

    See all (58) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Supramolecular complexes of GCAP1: implications for inherited retinal dystrophies.
      Title: Supramolecular complexes of GCAP1: implications for inherited retinal dystrophies.
    2. A Novel GUCA1A Variant Associated with Cone Dystrophy Alters cGMP Signaling in Photoreceptors by Strongly Interacting with and Hyperactivating Retinal Guanylate Cyclase.
      Title: A Novel GUCA1A Variant Associated with Cone Dystrophy Alters cGMP Signaling in Photoreceptors by Strongly Interacting with and Hyperactivating Retinal Guanylate Cyclase.
    3. Modulation of Guanylate Cyclase Activating Protein 1 (GCAP1) Dimeric Assembly by Ca(2+) or Mg(2+): Hints to Understand Protein Activity.
      Title: Modulation of Guanylate Cyclase Activating Protein 1 (GCAP1) Dimeric Assembly by Ca(2+) or Mg(2+): Hints to Understand Protein Activity.
    4. Neuronal Calcium Sensor GCAP1 Encoded by GUCA1A Exhibits Heterogeneous Functional Properties in Two Cases of Retinitis Pigmentosa.
      Title: Neuronal Calcium Sensor GCAP1 Encoded by GUCA1A Exhibits Heterogeneous Functional Properties in Two Cases of Retinitis Pigmentosa.
    5. Impaired Ca(2+) Sensitivity of a Novel GCAP1 Variant Causes Cone Dystrophy and Leads to Abnormal Synaptic Transmission Between Photoreceptors and Bipolar Cells.
      Title: Impaired Ca(2+) Sensitivity of a Novel GCAP1 Variant Causes Cone Dystrophy and Leads to Abnormal Synaptic Transmission Between Photoreceptors and Bipolar Cells.
    6. Normal GCAPs partly compensate for altered cGMP signaling in retinal dystrophies associated with mutations in GUCA1A.
      Title: Normal GCAPs partly compensate for altered cGMP signaling in retinal dystrophies associated with mutations in GUCA1A.
    7. Missense mutations affecting Ca(2+)-coordination in GCAP1 lead to cone-rod dystrophies by altering protein structural and functional properties.
      Title: Missense mutations affecting Ca(2+)-coordination in GCAP1 lead to cone-rod dystrophies by altering protein structural and functional properties.
    8. Constitutive Activation of Guanylate Cyclase by the G86R GCAP1 Variant Is Due to ""Locking"" Cation-pi Interactions that Impair the Activator-to-Inhibitor Structural Transition.
      Title: Constitutive Activation of Guanylate Cyclase by the G86R GCAP1 Variant Is Due to "Locking" Cation-π Interactions that Impair the Activator-to-Inhibitor Structural Transition.
    9. Characterization of GUCA1A-associated dominant cone/cone-rod dystrophy: low prevalence among Japanese patients with inherited retinal dystrophies.
      Title: Characterization of GUCA1A-associated dominant cone/cone-rod dystrophy: low prevalence among Japanese patients with inherited retinal dystrophies.
    10. The newly discovered missense mutation in GUCA1A (p.D144G) might lead to an imbalance of Ca(2+) and cGMP homeostasis and eventually, cause a significant variation in autosomal dominant cone dystrophy.
      Title: Functional characterization of a novel GUCA1A missense mutation (D144G) in autosomal dominant cone dystrophy: A novel pathogenic GUCA1A variant in COD.
    Submit: New GeneRIF Correction See all GeneRIFs (38)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Cone dystrophy 3
    MedGen: C1865869 OMIM: 602093 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Readthrough GUCA1ANB-GUCA1A

    Readthrough gene: GUCA1ANB-GUCA1A, Included gene: CIMIP3

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables calcium ion binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables calcium sensitive guanylate cyclase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables calcium sensitive guanylate cyclase activator activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables guanylate cyclase regulator activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables guanylate cyclase regulator activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cellular response to calcium ion ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in phototransduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of cGMP-mediated signaling IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of guanylate cyclase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in signal transduction NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in visual perception IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cone photoreceptor outer segment IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cone photoreceptor outer segment IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in photoreceptor disc membrane TAS
    Traceable Author Statement
    more info
    		  
    is_active_in photoreceptor inner segment IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in photoreceptor inner segment IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    guanylyl cyclase-activating protein 1
    Names
    cone dystrophy 3
    guanylate cyclase-activating protein, photoreceptor 1
    guanylin 1, retina

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_009938.1 RefSeqGene

      Range
      22959..29651
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001384910.1 → NP_001371839.1  guanylyl cyclase-activating protein 1

      Status: REVIEWED

      Source sequence(s)
      AL096814
      UniProtKB/Swiss-Prot
      B3KWT4, P43080, Q7Z6T1, Q9NU14
      UniProtKB/TrEMBL
      B2R9P6
      Related
      ENSP00000362049.1, ENST00000372958.2
      Conserved Domains (1) summary
      COG5126
      Location:12 → 163
      FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      42173364..42180056
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      42001569..42008260
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P43080.3 GenPept UniProtKB/Swiss-Prot:P43080

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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