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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.