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    GUCA1ANB-GUCA1A GUCA1ANB-GUCA1A readthrough [ Homo sapiens (human) ]

    Gene ID: 118142757, updated on 2-Nov-2024

    Summary

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    Official Symbol
    GUCA1ANB-GUCA1Aprovided by HGNC
    Official Full Name
    GUCA1ANB-GUCA1A readthroughprovided by HGNC
    Primary source
    HGNC:HGNC:56129
    See related
    Ensembl:ENSG00000290147 AllianceGenome:HGNC:56129
    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
    GUCA1A
    Summary
    This locus represents naturally occurring readthrough transcription between the neighboring GUCA1ANB (GUCA1A neighbor) and GUCA1A (guanylate cyclase activator 1A) genes on chromosome 6. The readthrough transcript encodes the same protein as GUCA1A. [provided by RefSeq, Jul 2020]
    Orthologs
    all
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    Genomic context

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    See GUCA1ANB-GUCA1A in Genome Data Viewer
    Location:
    6p21.1
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (42155406..42180056)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (41983624..42008260)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (42123144..42147794)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancers GRCh37_chr6:42017885-42018436 and GRCh37_chr6:42018437-42018988 Neighboring gene TATA-box binding protein associated factor 8 Neighboring gene Sharpr-MPRA regulatory region 7068 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:42067953-42068174 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 H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:42133477-42134444 Neighboring gene ciliary microtubule inner protein 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:42146768-42147472 Neighboring gene guanylate cyclase activator 1A 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

    Bibliography

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    Related articles in PubMed

    1. A novel p.(Glu111Val) missense mutation in GUCA1A associated with cone-rod dystrophy leads to impaired calcium sensing and perturbed second messenger homeostasis in photoreceptors. Marino V, et al. Hum Mol Genet, 2018 Dec 15. PMID 30184081
    2. Cone dystrophy or macular dystrophy associated with novel autosomal dominant GUCA1A mutations. Manes G, et al. Mol Vis, 2017. PMID 28442884, Free PMC Article
    3. GCAP1 (Y99C) mutant is constitutively active in autosomal dominant cone dystrophy. Sokal I, et al. Mol Cell, 1998 Jul. PMID 9702199
    4. Mutations in the GUCA1A gene involved in hereditary cone dystrophies impair calcium-mediated regulation of guanylate cyclase. Kitiratschky VB, et al. Hum Mutat, 2009 Aug. PMID 19459154
    5. Autosomal dominant cone and cone-rod dystrophy with mutations in the guanylate cyclase activator 1A gene-encoding guanylate cyclase activating protein-1. Downes SM, et al. Arch Ophthalmol, 2001 Jan. PMID 11146732

    See all (25) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See Variation Viewer (GRCh37.p13)

    Pathways from PubChem

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    General gene information

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    Homology

    Clone Names

    • FLJ43792, FLJ94498, MGC34591

    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

    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_000409.5 → NP_000400.2  guanylyl cyclase-activating protein 1

      See identical proteins and their annotated locations for NP_000400.2

      Status: REVIEWED

      Source sequence(s)
      AL096814
      Consensus CDS
      CCDS4864.1
      UniProtKB/Swiss-Prot
      B3KWT4, P43080, Q7Z6T1, Q9NU14
      UniProtKB/TrEMBL
      B2R9P6
      Conserved Domains (1) summary
      COG5126
      Location:12 → 163
      FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]

    2. NM_001319061.2 → NP_001305990.1  guanylyl cyclase-activating protein 1

      Status: REVIEWED

      Source sequence(s)
      AL096814
      Consensus CDS
      CCDS4864.1
      UniProtKB/Swiss-Prot
      B3KWT4, P43080, Q7Z6T1, Q9NU14
      UniProtKB/TrEMBL
      B2R9P6
      Conserved Domains (1) summary
      COG5126
      Location:12 → 163
      FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]

    3. NM_001319062.2 → NP_001305991.1  guanylyl cyclase-activating protein 1

      Status: REVIEWED

      Source sequence(s)
      AL096814
      Consensus CDS
      CCDS4864.1
      UniProtKB/Swiss-Prot
      B3KWT4, P43080, Q7Z6T1, Q9NU14
      UniProtKB/TrEMBL
      B2R9P6
      Related
      ENSP00000499539.1, ENST00000654459.1
      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
      42155406..42180056
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      41983624..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.