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Aliases for GUCA1A Gene

Aliases for GUCA1A Gene

  • Guanylate Cyclase Activator 1A 2 3 4 5
  • Cone Dystrophy 3 2 3
  • C6orf131 3 4
  • GUCA1 3 4
  • GCAP1 3 4
  • GCAP 3 4
  • Guanylate Cyclase-Activating Protein, Photoreceptor 1 3
  • Guanylate Cyclase Activator 1A (Retina) 2
  • Guanylyl Cyclase-Activating Protein 1 3
  • Chromosome 6 Open Reading Frame 131 2
  • Guanylin 1, Retina 3
  • CORD14 3
  • GCAP 1 4
  • 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
  • GC06P042156
  • GC06P042372

Summaries for GUCA1A Gene

Entrez Gene Summary for GUCA1A Gene

  • 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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

GeneCards Summary for GUCA1A Gene

GUCA1A (Guanylate Cyclase Activator 1A) is a Protein Coding gene. Diseases associated with GUCA1A include Cone Dystrophy 3 and Choroidal Dystrophy, Central Areolar, 1. Among its related pathways are MicroRNAs in cardiomyocyte hypertrophy and Phototransduction. Gene Ontology (GO) annotations related to this gene include calcium ion binding and guanylate cyclase regulator activity. An important paralog of this gene is GUCA1C.

UniProtKB/Swiss-Prot for GUCA1A Gene

  • Stimulates retinal guanylyl cyclase when free calcium ions concentration is low and inhibits guanylyl cyclase when free calcium ions concentration is elevated (PubMed:19459154). This Ca(2+)-sensitive regulation of retinal guanylyl cyclase is a key event in recovery of the dark state of rod photoreceptors following light exposure.

Gene Wiki entry for GUCA1A Gene

Additional gene information for GUCA1A Gene

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

Genomics for GUCA1A Gene

GeneHancer (GH) Regulatory Elements for GUCA1A Gene

Promoters and enhancers for GUCA1A Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J042155 Promoter 0.6 EPDnew 650.7 +0.0 1 0.1 CEBPB ENSG00000214732 GUCA1A
GH06J042153 Enhancer 0.5 dbSUPER 650.7 -1.6 -1585 1.5 ZFHX2 POLR2A ZNF366 ADNP MNT ATF2 EGR2 ENSG00000214732 GUCA1A GUCA1B C6orf132
GH06J042173 Promoter 0.5 EPDnew 650.4 +18.0 17978 0.1 GUCA1A ENSG00000214732 GUCA1B
GH06J041996 Enhancer 0.7 FANTOM5 ENCODE dbSUPER 55.8 -158.0 -158021 1.9 LOC105375060 GUCA1A RNU6-761P ENSG00000207371 MED20 BYSL USP49 ENSG00000206977 LOC105375059 CCND3
GH06J042547 Enhancer 1.5 FANTOM5 Ensembl ENCODE 22.8 +392.4 392408 1.6 PKNOX1 CLOCK ARNT ARID4B SIN3A ZNF2 IRF4 SLC30A9 ZNF213 E2F8 GUCA1A ABCC10 CUL7 RPL34P14 PRPH2 PEX6 ZNF318 BICRAL ENSG00000272223 MEA1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GUCA1A on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GUCA1A gene promoter:
  • Bach1
  • GATA-3
  • GATA-2
  • GATA-1
  • HOXA5
  • FOXO1
  • FOXO1a
  • LyF-1
  • ATF6
  • RORalpha1

Genomic Locations for GUCA1A Gene

Genomic Locations for GUCA1A Gene
chr6:42,155,386-42,180,056
(GRCh38/hg38)
Size:
24,671 bases
Orientation:
Plus strand
chr6:42,123,144-42,147,794
(GRCh37/hg19)
Size:
24,651 bases
Orientation:
Plus strand

Genomic View for GUCA1A Gene

Genes around GUCA1A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GUCA1A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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
    SequenceCaution:
    • Sequence=CAD92530.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

neXtProt entry for GUCA1A Gene

Post-translational modifications for GUCA1A Gene

No Post-translational modifications

No data available for DME Specific Peptides for GUCA1A Gene

Domains & Families for GUCA1A Gene

Gene Families for GUCA1A Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

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 :
  • Binds three calcium ions (via EF-hands 2, 3 and 4) when calcium levels are high. Binds Mg(2+) when calcium levels are low.
Domain:
  • Binds three calcium ions (via EF-hands 2, 3 and 4) when calcium levels are high. Binds Mg(2+) when calcium levels are low.
genes like me logo Genes that share domains with GUCA1A: view

Function for GUCA1A Gene

Molecular function for GUCA1A Gene

UniProtKB/Swiss-Prot Function:
Stimulates retinal guanylyl cyclase when free calcium ions concentration is low and inhibits guanylyl cyclase when free calcium ions concentration is elevated (PubMed:19459154). This Ca(2+)-sensitive regulation of retinal guanylyl cyclase is a key event in recovery of the dark state of rod photoreceptors following light exposure.
GENATLAS Biochemistry:
guanylate cyclase-activating protein,expressed in photoreceptor,regulating photoreceptor membrane guanylyl cyclase RETGC in a Ca2+ sensitive manner

Phenotypes From GWAS Catalog for GUCA1A Gene

Gene Ontology (GO) - Molecular Function for GUCA1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA,ISS --
GO:0008048 calcium sensitive guanylate cyclase activator activity ISS,IEA --
GO:0030249 guanylate cyclase regulator activity ISS --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with GUCA1A: view
genes like me logo Genes that share phenotypes with GUCA1A: view

Human Phenotype Ontology for GUCA1A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GUCA1A Gene

MGI Knock Outs for GUCA1A:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GUCA1A

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GUCA1A gene
Compartment Confidence
plasma membrane 5
cytosol 3
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GUCA1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001917 photoreceptor inner segment IEA --
GO:0016020 membrane IEA --
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

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 IEA --
GO:0022400 regulation of rhodopsin mediated signaling pathway TAS --
GO:0030828 positive regulation of cGMP biosynthetic process IEA --
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: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Approved Nutra 0
Myristic acid Experimental Pharma Target 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GUCA1A

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 and MOPED for GUCA1A Gene



Protein tissue co-expression partners for GUCA1A Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GUCA1A Gene:

GUCA1A

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.

Evidence on tissue expression from TISSUES for GUCA1A Gene

  • Eye(4.9)
  • Nervous system(4.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GUCA1A Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • head
  • lacrimal apparatus
  • pituitary gland
Thorax:
  • breast
Pelvis:
  • ovary
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vulva
General:
  • blood
  • blood vessel
  • hair
  • peripheral nervous system
  • skin
genes like me logo Genes that share expression patterns with GUCA1A: view

Orthologs for GUCA1A Gene

This gene was present in the common ancestor of chordates.

Orthologs for GUCA1A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GUCA1A 34 33
  • 97.16 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GUCA1A 34 33
  • 91.21 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GUCA1A 34 33
  • 91.17 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GUCA1A 34
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Guca1a 16 34 33
  • 86.88 (n)
rat
(Rattus norvegicus)
Mammalia Guca1a 33
  • 86.52 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia GUCA1A 34
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves GUCA1A 34 33
  • 80.87 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GUCA1A 34
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100124863 33
  • 72.22 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.17628 33
zebrafish
(Danio rerio)
Actinopterygii si:ch211-103a14.5 33
  • 68.51 (n)
guca1e 34
  • 62 (a)
OneToMany
GUCA1A (1 of 2) 34
  • 61 (a)
OneToMany
guca1a 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.795 34
  • 34 (a)
OneToMany
Species where no ortholog for GUCA1A was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for GUCA1A: view image

Paralogs for GUCA1A Gene

(18) SIMAP similar genes for GUCA1A Gene using alignment to 2 proteins:

  • GUC1A_HUMAN
  • A6PVH5_HUMAN
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 Variation AA Info Type
rs104893967 pathogenic, likely-pathogenic, Cone dystrophy 3, not provided, Macular dystrophy, Retinitis pigmentosa, Cone dystrophy 3 (COD3) [MIM:602093] 42,178,374(+) A/G coding_sequence_variant, missense_variant
rs104893968 pathogenic, uncertain-significance, Cone dystrophy 3, not specified, Cone dystrophy 3 (COD3) [MIM:602093] 42,173,762(+) C/G/T coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, upstream_transcript_variant
rs1132156 likely-benign, Cone/cone-rod dystrophy 42,155,579(+) A/C 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant
rs115636833 likely-benign, Retinitis Pigmentosa, Dominant, Cone/cone-rod dystrophy 42,179,748(+) G/A 3_prime_UTR_variant
rs121434631 pathogenic, Cone dystrophy 3, Cone dystrophy 3 (COD3) [MIM:602093] 42,179,248(+) C/G/T coding_sequence_variant, missense_variant

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

Variant ID Type Subtype PubMed ID
esv3567708 CNV deletion 23714750
esv3608795 CNV gain 21293372
nsv510026 OTHER sequence alteration 20534489
nsv830649 CNV loss 17160897

Variation tolerance for GUCA1A Gene

Residual Variation Intolerance Score: 59.2% 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)

Additional Variant Information for GUCA1A Gene

Human Gene Mutation Database (HGMD)
GUCA1A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GUCA1A

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

Disorders for GUCA1A Gene

MalaCards: The human disease database

(14) MalaCards diseases for GUCA1A Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
cone dystrophy 3
  • cod3
choroidal dystrophy, central areolar, 1
  • cacd1
cone-rod dystrophy 6
  • cord6
retinitis pigmentosa
  • retinitis pigmentosa 1
cone dystrophy
  • cone dystrophy 3
- elite association - COSMIC cancer census association via MalaCards

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:11108966, 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.

Additional Disease Information for GUCA1A

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 novel mutation (I143NT) in guanylate cyclase-activating protein 1 (GCAP1) associated with autosomal dominant cone degeneration. (PMID: 15505030) Nishiguchi KM … Baehr W (Investigative ophthalmology & visual science 2004) 3 4 22 44 58
  2. 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 AM … Bhattacharya SS (Human molecular genetics 1998) 2 3 4 22 58
  3. Mutations in the GUCA1A gene involved in hereditary cone dystrophies impair calcium-mediated regulation of guanylate cyclase. (PMID: 19459154) Kitiratschky VB … Koch KW (Human mutation 2009) 3 4 22 58
  4. Autosomal dominant cone dystrophy caused by a novel mutation in the GCAP1 gene (GUCA1A). (PMID: 15735604) Jiang L … Zhang K (Molecular vision 2005) 3 4 22 58
  5. A novel GCAP1 missense mutation (L151F) in a large family with autosomal dominant cone-rod dystrophy (adCORD). (PMID: 15790869) Sokal I … Baehr W (Investigative ophthalmology & visual science 2005) 3 4 22 58

Products for GUCA1A Gene

Sources for GUCA1A Gene

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