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    GUCA1C guanylate cyclase activator 1C [ Homo sapiens (human) ]

    Gene ID: 9626, updated on 28-Oct-2024

    Summary

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    Official Symbol
    GUCA1Cprovided by HGNC
    Official Full Name
    guanylate cyclase activator 1Cprovided by HGNC
    Primary source
    HGNC:HGNC:4680
    See related
    Ensembl:ENSG00000138472 MIM:605128; AllianceGenome:HGNC:4680
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GCAP3
    Summary
    Predicted to enable calcium ion binding activity and calcium sensitive guanylate cyclase activator activity. Predicted to be involved in signal transduction and visual perception. Predicted to be located in photoreceptor disc membrane. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Biased expression in pancreas (RPKM 3.4), heart (RPKM 3.1) and 2 other tissues See more
    Orthologs
    all
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    Genomic context

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    See GUCA1C in Genome Data Viewer
    Location:
    3q13.13
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (108907792..108955195, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (111628032..111675446, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (108626639..108672726, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene resistin like beta Neighboring gene T cell receptor associated transmembrane adaptor 1 Neighboring gene MORC family CW-type zinc finger 1 Neighboring gene small nucleolar RNA U3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20223 Neighboring gene MORC1 antisense RNA 1

    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. Molecular Properties of Human Guanylate Cyclase-Activating Protein 3 (GCAP3) and Its Possible Association with Retinitis Pigmentosa. Avesani A, et al. Int J Mol Sci, 2022 Mar 17. PMID 35328663, Free PMC Article
    2. The crystal structure of GCAP3 suggests molecular mechanism of GCAP-linked cone dystrophies. Stephen R, et al. J Mol Biol, 2006 Jun 2. PMID 16626734, Free PMC Article
    3. Molecular characterization of a third member of the guanylyl cyclase-activating protein subfamily. Haeseleer F, et al. J Biol Chem, 1999 Mar 5. PMID 10037746
    4. Role of GUCA1C in Primary Congenital Glaucoma and in the Retina: Functional Evaluation in Zebrafish. Morales-Cámara S, et al. Genes (Basel), 2020 May 14. PMID 32422965, Free PMC Article
    5. Characterization of retinal guanylate cyclase-activating protein 3 (GCAP3) from zebrafish to man. Imanishi Y, et al. Eur J Neurosci, 2002 Jan. PMID 11860507, Free PMC Article

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Molecular Properties of Human Guanylate Cyclase-Activating Protein 3 (GCAP3) and Its Possible Association with Retinitis Pigmentosa.
      Title: Molecular Properties of Human Guanylate Cyclase-Activating Protein 3 (GCAP3) and Its Possible Association with Retinitis Pigmentosa.
    2. Role of GUCA1C in Primary Congenital Glaucoma and in the Retina: Functional Evaluation in Zebrafish.
      Title: Role of GUCA1C in Primary Congenital Glaucoma and in the Retina: Functional Evaluation in Zebrafish.
    3. Results report the crystal structure of unmyristoylated human guanylate cyclase-activating protein 3 (GCAP3) with calcium bound.
      Title: The crystal structure of GCAP3 suggests molecular mechanism of GCAP-linked cone dystrophies.
    Submit: New GeneRIF Correction

    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

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2021-02-02)

    ClinGen Genome Curation Page
    Haploinsufficency

    Dosage sensitivity unlikely (Last evaluated 2021-02-02)

    ClinGen Genome Curation PagePubMed

    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

    Homology

    Clone Names

    • MGC120158, MGC120159

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables calcium sensitive guanylate cyclase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in regulation of signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in signal transduction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in visual perception TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in photoreceptor disc membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    guanylyl cyclase-activating protein 3
    Names
    GCAP 3

    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.

    mRNA and Protein(s)

    1. NM_001363884.1 → NP_001350813.1  guanylyl cyclase-activating protein 3 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC016948, AC080135
      Consensus CDS
      CCDS87118.1
      UniProtKB/TrEMBL
      C9J7M7, C9JNI2
      Related
      ENSP00000377535.3, ENST00000393963.7
      Conserved Domains (1) summary
      cl25352
      Location:15 → 144
      EFh_PEF; The penta-EF hand (PEF) family

    2. NM_005459.4 → NP_005450.3  guanylyl cyclase-activating protein 3 isoform 1

      See identical proteins and their annotated locations for NP_005450.3

      Status: VALIDATED

      Source sequence(s)
      AC016948, AC080135, AF110002, AF110003, AV732101, C20850
      Consensus CDS
      CCDS2954.1
      UniProtKB/Swiss-Prot
      O95843, O95844, Q9UNM0
      Related
      ENSP00000261047.3, ENST00000261047.8
      Conserved Domains (2) summary
      COG5126
      Location:15 → 165
      FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
      cd00051
      Location:92 → 160
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      108907792..108955195 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011513334.3 → XP_011511636.1  guanylyl cyclase-activating protein 3 isoform X1

      Conserved Domains (2) summary
      cd00051
      Location:8 → 76
      EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
      pfam13499
      Location:9 → 75
      EF-hand_7; EF-hand domain pair

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      111628032..111675446 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054348479.1 → XP_054204454.1  guanylyl cyclase-activating protein 3 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O95843.3 GenPept UniProtKB/Swiss-Prot:O95843

    Gene LinkOut

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

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