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Aliases for GUCA1A Gene

Aliases for GUCA1A Gene

  • Guanylate Cyclase Activator 1A (Retina) 2 3
  • Cone Dystrophy 3 2 3
  • C6orf131 3 4
  • GCAP 1 3 4
  • GUCA1 3 4
  • GCAP1 3 4
  • GCAP 3 4
  • Guanylate Cyclase-Activating Protein, Photoreceptor 1 3
  • Chromosome 6 Open Reading Frame 131 2
  • Guanylate Cyclase Activator 1A 4
  • Guanylin 1, Retina 3
  • DJ139D8.6 3
  • CORD14 3
  • COD3 3
  • GUCA 3

External Ids for GUCA1A Gene

Previous HGNC Symbols for GUCA1A Gene

  • GUCA
  • GUCA1
  • C6orf131

Previous GeneCards Identifiers for GUCA1A Gene

  • GC06P042143
  • GC06P042170
  • GC06P042231
  • GC06P041841

Summaries for GUCA1A Gene

Entrez Gene Summary for GUCA1A Gene

  • This gene plays a role in the recovery of retinal photoreceptors from photobleaching. In the recovery phase, the phototransduction messeneger cGMP is replenished by retinal guanylyl cyclase-1 (GC1). GC1 is activated by decreasing Ca(2+) concentrations following photobleaching. The protein encoded by this gene, guanylyl cyclase activating protein 1 (GCAP1), mediates the sensitivity of GC1 to Ca(2+) concentrations. GCAP1 promotes activity of GC1 at low Ca(2+) concentrations and inhibits GC1 activity at high Ca(2+) concentrations. Mutations in this gene cause autosomal dominant cone dystrophy (COD3); a disease characterized by reduced visual acuity associated with progressive loss of color vision. Mutations in this gene prohibit the inactivation of RetGC1 at high Ca(2+) concentrations; causing the constitutive activation of RetGC1 and, presumably, increased cell death. This gene is expressed in retina and spermatagonia. [provided by RefSeq, Feb 2009]

GeneCards Summary for GUCA1A Gene

GUCA1A (Guanylate Cyclase Activator 1A (Retina)) is a Protein Coding gene. Diseases associated with GUCA1A include cone dystrophy-3 and cone dystrophy. Among its related pathways are Signaling by GPCR and Visual Cycle in Retinal Rods. GO annotations related to this gene include calcium ion binding and guanylate cyclase regulator activity. An important paralog of this gene is KCNIP3.

UniProtKB/Swiss-Prot for GUCA1A Gene

  • Stimulates guanylyl cyclase 1 (GC1) when free calcium ions concentration is low and inhibits GC1 when free calcium ions concentration is elevated. This Ca(2+)-sensitive regulation of GC is a key event in recovery of the dark state of rod photoreceptors following light exposure

Gene Wiki entry for GUCA1A Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GUCA1A Gene

Genomics for GUCA1A Gene

Regulatory Elements for GUCA1A Gene

Genomic Location for GUCA1A Gene

Chromosome:
6
Start:
42,155,386 bp from pter
End:
42,180,056 bp from pter
Size:
24,671 bases
Orientation:
Plus strand

Genomic View for GUCA1A Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for GUCA1A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GUCA1A Gene

Proteins for GUCA1A Gene

  • Protein details for GUCA1A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P43080-GUC1A_HUMAN
    Recommended name:
    Guanylyl cyclase-activating protein 1
    Protein Accession:
    P43080
    Secondary Accessions:
    • B3KWT4
    • Q7Z6T1
    • Q9NU14

    Protein attributes for GUCA1A Gene

    Size:
    201 amino acids
    Molecular mass:
    22920 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • Binds three calcium ions
    SequenceCaution:
    • Sequence=CAD92530.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

neXtProt entry for GUCA1A Gene

Proteomics data for GUCA1A Gene at MOPED

Post-translational modifications for GUCA1A Gene

No Post-translational modifications

Other Protein References for GUCA1A Gene

Antibody Products

No data available for DME Specific Peptides for GUCA1A Gene

Domains & Families for GUCA1A Gene

Gene Families for GUCA1A Gene

Protein Domains for GUCA1A Gene

Suggested Antigen Peptide Sequences for GUCA1A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P43080

UniProtKB/Swiss-Prot:

GUC1A_HUMAN :
  • Contains 4 EF-hand domains.
Domain:
  • Contains 4 EF-hand domains.
genes like me logo Genes that share domains with GUCA1A: view

Function for GUCA1A Gene

Molecular function for GUCA1A Gene

GENATLAS Biochemistry:
guanylate cyclase-activating protein,expressed in photoreceptor,regulating photoreceptor membrane guanylyl cyclase RETGC in a Ca2+ sensitive manner
UniProtKB/Swiss-Prot Function:
Stimulates guanylyl cyclase 1 (GC1) when free calcium ions concentration is low and inhibits GC1 when free calcium ions concentration is elevated. This Ca(2+)-sensitive regulation of GC is a key event in recovery of the dark state of rod photoreceptors following light exposure

Gene Ontology (GO) - Molecular Function for GUCA1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
GO:0008048 calcium sensitive guanylate cyclase activator activity IEA --
GO:0030249 guanylate cyclase regulator activity --
genes like me logo Genes that share ontologies with GUCA1A: view

Phenotypes for GUCA1A Gene

MGI mutant phenotypes for GUCA1A:
inferred from 3 alleles
GenomeRNAi human phenotypes for GUCA1A:
genes like me logo Genes that share phenotypes with GUCA1A: view

Animal Models for GUCA1A Gene

MGI Knock Outs for GUCA1A:

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GUCA1A

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for GUCA1A Gene

Localization for GUCA1A Gene

Subcellular locations from UniProtKB/Swiss-Prot for GUCA1A Gene

Membrane; Lipid-anchor.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GUCA1A Gene COMPARTMENTS Subcellular localization image for GUCA1A gene
Compartment Confidence
plasma membrane 4

Gene Ontology (GO) - Cellular Components for GUCA1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001750 photoreceptor outer segment --
GO:0001917 photoreceptor inner segment IEA --
GO:0005886 plasma membrane IDA --
GO:0016020 membrane --
GO:0097381 photoreceptor disc membrane TAS --
genes like me logo Genes that share ontologies with GUCA1A: view

Pathways & Interactions for GUCA1A Gene

genes like me logo Genes that share pathways with GUCA1A: view

Pathways by source for GUCA1A Gene

Gene Ontology (GO) - Biological Process for GUCA1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction NAS 7983048
GO:0007601 visual perception IEA --
GO:0007602 phototransduction --
GO:0007603 phototransduction, visible light TAS --
GO:0016056 rhodopsin mediated signaling pathway TAS --
genes like me logo Genes that share ontologies with GUCA1A: view

No data available for SIGNOR curated interactions for GUCA1A Gene

Drugs & Compounds for GUCA1A Gene

(8) Drugs for GUCA1A Gene - From: NovoSeek, DrugBank, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
MYRISTIC ACID Experimental Pharma Target 0
Calcium Nutra 0
AMP-PNP Pharma Antagonist, Gating inhibitor 0
ATP Pharma Activator 0
cgmp Pharma Activation, Activator 0

(1) Additional Compounds for GUCA1A Gene - From: NovoSeek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
guanylate
genes like me logo Genes that share compounds with GUCA1A: view

Transcripts for GUCA1A Gene

Unigene Clusters for GUCA1A Gene

Guanylate cyclase activator 1A (retina):
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GUCA1A

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for GUCA1A Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b · 3c · 3d ^ 4 ^ 5 ^ 6 ^ 7
SP1: - -
SP2: -
SP3: - -
SP4:
SP5: - -

Relevant External Links for GUCA1A Gene

GeneLoc Exon Structure for
GUCA1A
ECgene alternative splicing isoforms for
GUCA1A

Expression for GUCA1A Gene

mRNA expression in normal human tissues for GUCA1A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GUCA1A Gene

This gene is overexpressed in Testis (x14.8), Brain - Nucleus accumbens (basal ganglia) (x9.2), Brain - Putamen (basal ganglia) (x5.9), Brain - Caudate (basal ganglia) (x5.3), and Brain - Hypothalamus (x5.0).

Protein differential expression in normal tissues from HIPED for GUCA1A Gene

This gene is overexpressed in Retina (53.1) and Heart (15.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for GUCA1A Gene



SOURCE GeneReport for Unigene cluster for GUCA1A Gene Hs.92858

mRNA Expression by UniProt/SwissProt for GUCA1A Gene

P43080-GUC1A_HUMAN
Tissue specificity: Retina; cone outer and inner segments, in particular, in disk membrane regions, and to a lesser extent rod inner and outer segments
genes like me logo Genes that share expression patterns with GUCA1A: view

Protein tissue co-expression partners for GUCA1A Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for GUCA1A Gene

This gene was present in the common ancestor of chordates.

Orthologs for GUCA1A Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia GUCA1A 35
  • 91.21 (n)
  • 96.02 (a)
GUCA1A 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GUCA1A 35
  • 91.17 (n)
  • 97.3 (a)
GUCA1A 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Guca1a 35
  • 86.88 (n)
  • 93.62 (a)
Guca1a 16
Guca1a 36
  • 91 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GUCA1A 35
  • 97.16 (n)
  • 97.33 (a)
GUCA1A 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Guca1a 35
  • 86.52 (n)
  • 94.68 (a)
oppossum
(Monodelphis domestica)
Mammalia GUCA1A 36
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GUCA1A 36
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves GUCA1A 35
  • 80.87 (n)
  • 85.79 (a)
GUCA1A 36
  • 79 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GUCA1A 36
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100124863 35
  • 72.22 (n)
  • 80.11 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.17628 35
zebrafish
(Danio rerio)
Actinopterygii guca1a 35
si:ch211-103a14.5 35
  • 68.51 (n)
  • 67.96 (a)
GUCA1A (1 of 2) 36
  • 61 (a)
OneToMany
guca1e 36
  • 62 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.795 36
  • 34 (a)
OneToMany
Species with no ortholog for GUCA1A:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for GUCA1A Gene

ENSEMBL:
Gene Tree for GUCA1A (if available)
TreeFam:
Gene Tree for GUCA1A (if available)

Paralogs for GUCA1A Gene

genes like me logo Genes that share paralogs with GUCA1A: view

Variants for GUCA1A Gene

Sequence variations from dbSNP and Humsavar for GUCA1A Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type MAF
rs1123304 -- 42,180,292(-) TTTAA(A/G)TCCCA downstream-variant-500B
rs1132156 -- 42,155,579(+) CTCAC(A/C)TGTGC utr-variant-5-prime, intron-variant
rs1467448 -- 42,178,560(-) tgagG(C/G)CTACA intron-variant
rs1884313 -- 42,173,990(-) GATCC(A/G)TTGAA intron-variant
rs1987531 -- 42,168,059(-) GAGGC(A/C/G)GAGGC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for GUCA1A Gene

Variant ID Type Subtype PubMed ID
nsv830649 CNV Loss 17160897
nsv510026 CNV Loss 20534489

Variation tolerance for GUCA1A Gene

Residual Variation Intolerance Score: 59.24% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.40; 27.51% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GUCA1A Gene

HapMap Linkage Disequilibrium report
GUCA1A
Human Gene Mutation Database (HGMD)
GUCA1A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GUCA1A Gene

Disorders for GUCA1A Gene

MalaCards: The human disease database

(10) MalaCards diseases for GUCA1A Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
cone dystrophy-3
  • cone-rod dystrophy 14
cone dystrophy
  • retinal cone dystrophy
hereditary choroidal atrophy
  • hereditary choroidal dystrophy
choroidal sclerosis
  • choroidal degenerations
partial central choroid dystrophy
  • choroidal dystrophy, central areolar
- elite association

UniProtKB/Swiss-Prot

GUC1A_HUMAN
  • Cone dystrophy 3 (COD3) [MIM:602093]: An autosomal dominant cone dystrophy. Cone dystrophies are retinal dystrophies characterized by progressive degeneration of the cone photoreceptors with preservation of rod function, as indicated by electroretinogram. However, some rod involvement may be present in some cone dystrophies, particularly at late stage. Affected individuals suffer from photophobia, loss of visual acuity, color vision and central visual field. Another sign is the absence of macular lesions for many years. Cone dystrophies are distinguished from the cone-rod dystrophies in which some loss of peripheral vision also occurs. {ECO:0000269 PubMed:11146732, ECO:0000269 PubMed:11484154, ECO:0000269 PubMed:15505030, ECO:0000269 PubMed:15735604, ECO:0000269 PubMed:15790869, ECO:0000269 PubMed:19459154, ECO:0000269 PubMed:9425234}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for GUCA1A

Genetic Association Database (GAD)
GUCA1A
Human Genome Epidemiology (HuGE) Navigator
GUCA1A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GUCA1A
genes like me logo Genes that share disorders with GUCA1A: view

No data available for Genatlas for GUCA1A Gene

Publications for GUCA1A Gene

  1. A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1. (PMID: 9425234) Payne A.M. … Bhattacharya S.S. (Hum. Mol. Genet. 1998) 2 23 67
  2. Rod outer segment membrane guanylate cyclase type 1 (ROS-GC1) calcium-modulated transduction system in the sperm. (PMID: 19111294) Jankowska A. … Warchol J.B. (Fertil. Steril. 2010) 23 67
  3. Calcium binding, structural stability and guanylate cyclase activation in GCAP1 variants associated with human cone dystrophy. (PMID: 20213926) Dell'Orco D. … Koch K.W. (Cell. Mol. Life Sci. 2010) 23 67
  4. GCAP1 mutations associated with autosomal dominant cone dystrophy. (PMID: 20238026) Jiang L. … Baehr W. (Adv. Exp. Med. Biol. 2010) 23 67
  5. Guanylate cyclases and associated activator proteins in retinal disease. (PMID: 19941038) Hunt D.M. … Michaelides M. (Mol. Cell. Biochem. 2010) 23 67

Products for GUCA1A Gene

Sources for GUCA1A Gene

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