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Aliases for GUCY1A1 Gene

Aliases for GUCY1A1 Gene

  • Guanylate Cyclase 1 Soluble Subunit Alpha 1 2 3 5
  • Soluble Guanylate Cyclase Large Subunit 3 4
  • Guanylate Cyclase 1, Soluble, Alpha 3 2 3
  • GCS-Alpha-3 3 4
  • GUCY1A3 3 4
  • GUC1A3 3 4
  • GUCSA3 3 4
  • Guanylate Cyclase Soluble Subunit Alpha-1 3
  • Guanylate Cyclase Soluble Subunit Alpha-3 4
  • Guanylate Cyclase 1 Soluble Subunit Alpha 2
  • GC-S-Alpha-1 3
  • GCS-Alpha-1 4
  • EC 4.6.1.2 4
  • GC-SA3 3
  • GUCA3 3
  • MYMY6 3

External Ids for GUCY1A1 Gene

Previous HGNC Symbols for GUCY1A1 Gene

  • GUC1A3
  • GUCY1A3

Summaries for GUCY1A1 Gene

Entrez Gene Summary for GUCY1A1 Gene

  • Soluble guanylate cyclases are heterodimeric proteins that catalyze the conversion of GTP to 3',5'-cyclic GMP and pyrophosphate. The protein encoded by this gene is an alpha subunit of this complex and it interacts with a beta subunit to form the guanylate cyclase enzyme, which is activated by nitric oxide. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]

GeneCards Summary for GUCY1A1 Gene

GUCY1A1 (Guanylate Cyclase 1 Soluble Subunit Alpha 1) is a Protein Coding gene. Diseases associated with GUCY1A1 include Moyamoya Disease 6 With Achalasia and Myocardial Infarction. Among its related pathways are G-Beta Gamma Signaling and Gap junction. An important paralog of this gene is GUCY1A2.

Gene Wiki entry for GUCY1A1 Gene

Additional gene information for GUCY1A1 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GUCY1A1 Gene

Genomics for GUCY1A1 Gene

GeneHancer (GH) Regulatory Elements for GUCY1A1 Gene

Promoters and enhancers for GUCY1A1 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
GH04J155666 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 650.7 +1.3 1297 3.2 PKNOX1 SMAD1 ARNT FEZF1 YBX1 ZNF2 GLIS2 ZNF207 REST TSHZ1 GUCY1A1 ENSG00000260244
GH04J155637 Enhancer 0.8 Ensembl ENCODE 12.5 -27.6 -27639 3 HDGF SMARCA5 PKNOX1 PAX8 MEF2B DPF2 ZNF217 IKZF1 ATF7 MLLT1 GUCY1A1 LOC105377504
GH04J155628 Enhancer 0.7 Ensembl ENCODE 7.7 -37.1 -37115 1.8 PRDM6 JUN IKZF1 GFI1B MLLT1 GUCY1B1 GUCY1A1 LOC105377504
GH04J155525 Enhancer 0.6 Ensembl ENCODE 8.1 -139.9 -139856 1.4 PRDM1 NR2F2 GUCY1B1 GUCY1A1 LOC105377504
GH04J155591 Enhancer 0.4 ENCODE 11.3 -73.9 -73931 1.6 RCOR1 CHD2 GUCY1A1 GUCY1B1 LOC105377504
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GUCY1A1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for GUCY1A1 Gene

Genomic Locations for GUCY1A1 Gene
chr4:155,666,568-155,737,062
(GRCh38/hg38)
Size:
70,495 bases
Orientation:
Plus strand
chr4:156,587,862-156,658,214
(GRCh37/hg19)
Size:
70,353 bases
Orientation:
Plus strand

Genomic View for GUCY1A1 Gene

Genes around GUCY1A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GUCY1A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GUCY1A1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GUCY1A1 Gene

Proteins for GUCY1A1 Gene

  • Protein details for GUCY1A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q02108-GCYA1_HUMAN
    Recommended name:
    Guanylate cyclase soluble subunit alpha-1
    Protein Accession:
    Q02108
    Secondary Accessions:
    • D3DP19
    • D6RDW3
    • O43843
    • Q8TAH3

    Protein attributes for GUCY1A1 Gene

    Size:
    690 amino acids
    Molecular mass:
    77452 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • The active enzyme is formed by a heterodimer of an alpha and a beta subunit. Heterodimer with GUCY1B1 (PubMed:9742212, PubMed:23505436, PubMed:24669844).
    Miscellaneous:
    • There are two types of guanylate cyclases: soluble forms and membrane-associated receptor forms.
    SequenceCaution:
    • Sequence=CAA47145.1; Type=Frameshift; Positions=123, 127, 131, 162, 184, 529, 535, 678, 680; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for GUCY1A1 Gene

    Alternative splice isoforms for GUCY1A1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GUCY1A1 Gene

Post-translational modifications for GUCY1A1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for GUCY1A1 Gene

Domains & Families for GUCY1A1 Gene

Gene Families for GUCY1A1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for GUCY1A1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q02108

UniProtKB/Swiss-Prot:

GCYA1_HUMAN :
  • Belongs to the adenylyl cyclase class-4/guanylyl cyclase family.
Family:
  • Belongs to the adenylyl cyclase class-4/guanylyl cyclase family.
genes like me logo Genes that share domains with GUCY1A1: view

Function for GUCY1A1 Gene

Molecular function for GUCY1A1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
GTP = 3,5-cyclic GMP + diphosphate.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by nitric oxide in the presence of magnesium or manganese ions.

Enzyme Numbers (IUBMB) for GUCY1A1 Gene

Phenotypes From GWAS Catalog for GUCY1A1 Gene

Gene Ontology (GO) - Molecular Function for GUCY1A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004016 adenylate cyclase activity IBA --
GO:0004383 guanylate cyclase activity TAS,IDA 23505436
GO:0005515 protein binding IPI 23505436
GO:0005525 GTP binding IEA --
GO:0016829 lyase activity IEA --
genes like me logo Genes that share ontologies with GUCY1A1: view
genes like me logo Genes that share phenotypes with GUCY1A1: view

Human Phenotype Ontology for GUCY1A1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GUCY1A1 Gene

MGI Knock Outs for GUCY1A1:

Animal Model Products

miRNA for GUCY1A1 Gene

miRTarBase miRNAs that target GUCY1A1

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for GUCY1A1 Gene

Localization for GUCY1A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GUCY1A1 Gene

Cytoplasm.

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 GUCY1A1 gene
Compartment Confidence
cytosol 5
plasma membrane 3
nucleus 2
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for GUCY1A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane IBA --
GO:0008074 guanylate cyclase complex, soluble IDA 23505436
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with GUCY1A1: view

Pathways & Interactions for GUCY1A1 Gene

genes like me logo Genes that share pathways with GUCY1A1: view

Gene Ontology (GO) - Biological Process for GUCY1A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006182 cGMP biosynthetic process IDA 23505436
GO:0007165 signal transduction IBA --
GO:0007263 nitric oxide mediated signal transduction TAS 9742212
GO:0008015 blood circulation TAS 9742212
GO:0008217 regulation of blood pressure IEA --
genes like me logo Genes that share ontologies with GUCY1A1: view

No data available for SIGNOR curated interactions for GUCY1A1 Gene

Drugs & Compounds for GUCY1A1 Gene

(14) Drugs for GUCY1A1 Gene - From: DGIdb, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Riociguat Approved Pharma Soluble guanylate cyclase (sGC) stimulator 0
Phosphoric acid Approved Pharma 0
Magnesium Approved Nutra 0
Manganese Approved Nutra 37
Cyclic GMP Experimental Pharma 0

(1) Additional Compounds for GUCY1A1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • [(ho)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • PYROphosphATE
14000-31-8

(5) Tocris Compounds for GUCY1A1 Gene

Compound Action Cas Number
A 350619 hydrochloride Soluble guanylyl cyclase (sGC) activator 1217201-17-6
BAY 41-2272 Soluble guanylyl cyclase (sGC) activator 256376-24-6
BPIPP Non-competitive GC inhibitor. Also AC inhibitor 325746-94-9
CFM 1571 hydrochloride Soluble guanylyl cyclase (sGC) activator 1215548-30-3
YC 1 Soluble guanylyl cyclase (sGC) activator; induces G1 cell cycle arrest 170632-47-0
genes like me logo Genes that share compounds with GUCY1A1: view

Transcripts for GUCY1A1 Gene

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GUCY1A1 Gene

No ASD Table

Relevant External Links for GUCY1A1 Gene

GeneLoc Exon Structure for
GUCY1A1
ECgene alternative splicing isoforms for
GUCY1A1

Expression for GUCY1A1 Gene

NURSA nuclear receptor signaling pathways regulating expression of GUCY1A1 Gene:

GUCY1A1

mRNA Expression by UniProt/SwissProt for GUCY1A1 Gene:

Q02108-GCYA1_HUMAN
Tissue specificity: Detected in brain cortex and lung (at protein level).

Evidence on tissue expression from TISSUES for GUCY1A1 Gene

  • Nervous system(4.9)
  • Kidney(4.4)
  • Eye(2.2)
  • Heart(2)
  • Lung(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GUCY1A1 Gene

Germ Layers:
  • ectoderm
  • endoderm
Systems:
  • digestive
  • reproductive
Regions:
Head and neck:
  • head
  • mouth
  • pharynx
Thorax:
  • esophagus
Abdomen:
  • stomach
Pelvis:
  • penis

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for GUCY1A1 Gene

Orthologs for GUCY1A1 Gene

This gene was present in the common ancestor of animals.

Orthologs for GUCY1A1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GUCY1A3 34 33
  • 99.66 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GUCY1A3 34 33
  • 89.61 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GUCY1A3 34
  • 88 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GUCY1A3 34
  • 87 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GUCY1A1 34
  • 86 (a)
OneToOne
GUCY1A3 33
  • 83.19 (n)
mouse
(Mus musculus)
Mammalia Gucy1a3 34 33
  • 84.2 (n)
OneToOne
Gucy1a1 16
rat
(Rattus norvegicus)
Mammalia Gucy1a3 33
  • 84.18 (n)
chicken
(Gallus gallus)
Aves GUCY1A3 34 33
  • 78.29 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GUCY1A3 34
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gucy1a3 33
  • 72.93 (n)
zebrafish
(Danio rerio)
Actinopterygii gucy1a3 34 33
  • 54.78 (n)
OneToOne
Dr.12554 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6530 33
fruit fly
(Drosophila melanogaster)
Insecta Gycalpha99B 34
  • 35 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea gcy-29 34
  • 13 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 43 (a)
OneToMany
Species where no ortholog for GUCY1A1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)
  • 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)

Evolution for GUCY1A1 Gene

ENSEMBL:
Gene Tree for GUCY1A1 (if available)
TreeFam:
Gene Tree for GUCY1A1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GUCY1A1: view image

Paralogs for GUCY1A1 Gene

Paralogs for GUCY1A1 Gene

genes like me logo Genes that share paralogs with GUCY1A1: view

Variants for GUCY1A1 Gene

Sequence variations from dbSNP and Humsavar for GUCY1A1 Gene

SNP ID Clin Chr 04 pos Variation AA Info Type
rs587777320 pathogenic, Moyamoya disease 6 with achalasia 155,711,252(+) G/A/T splice_donor_variant
rs587777321 pathogenic, Moyamoya disease 6 with achalasia 155,711,210(+) C/T coding_sequence_variant, stop_gained
rs587777322 pathogenic, Moyamoya disease 6 with achalasia 155,713,181(+) A/ coding_sequence_variant, frameshift
rs587777928 pathogenic, Myocardial infarction 1 155,710,648(+) TTTTTT/TTTTTTT 5_prime_UTR_variant, coding_sequence_variant, frameshift
rs919487431 likely-pathogenic, not provided 155,730,067(+) C/T coding_sequence_variant, genic_downstream_transcript_variant, stop_gained

Structural Variations from Database of Genomic Variants (DGV) for GUCY1A1 Gene

Variant ID Type Subtype PubMed ID
esv23465 CNV loss 19812545
esv2421932 CNV deletion 20811451
esv2514554 CNV deletion 19546169
esv2674234 CNV deletion 23128226
esv275314 CNV loss 21479260
esv2759290 CNV loss 17122850
esv2760878 CNV loss 21179565
esv3602765 CNV loss 21293372
esv3602766 CNV loss 21293372
esv3894054 CNV loss 25118596
nsv1022201 CNV loss 25217958
nsv1073383 CNV deletion 25765185
nsv1130925 CNV deletion 24896259
nsv1150507 CNV deletion 26484159
nsv437445 CNV loss 16327808
nsv442925 CNV loss 18776908
nsv4563 CNV insertion 18451855
nsv509940 OTHER sequence alteration 20534489
nsv514260 CNV loss 21397061
nsv519870 CNV loss 19592680

Variation tolerance for GUCY1A1 Gene

Residual Variation Intolerance Score: 25.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.05; 50.50% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GUCY1A1 Gene

Human Gene Mutation Database (HGMD)
GUCY1A1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GUCY1A1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GUCY1A1 Gene

Disorders for GUCY1A1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for GUCY1A1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
moyamoya disease 6 with achalasia
  • mymy6
myocardial infarction
  • myocardial infarction, susceptibility to
achalasia
  • achalasia of cardia
moyamoya disease 1
  • mymy1
cerebral arterial disease
  • cerebral arterial diseases
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

GCYA1_HUMAN
  • Moyamoya disease 6 with achalasia (MYMY6) [MIM:615750]: A form of Moyamoya disease, a progressive cerebral angiopathy characterized by bilateral intracranial carotid artery stenosis and telangiectatic vessels in the region of the basal ganglia. The abnormal vessels resemble a puff of smoke (moyamoya) on cerebral angiogram. Affected individuals can develop transient ischemic attacks and/or cerebral infarction, and rupture of the collateral vessels can cause intracranial hemorrhage. Hemiplegia of sudden onset and epileptic seizures constitute the prevailing presentation in childhood, while subarachnoid bleeding occurs more frequently in adults. MYMY6 is characterized by severe cerebral angiopathy and onset of severe achalasia in infancy or early childhood. {ECO:0000269 PubMed:24581742}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for GUCY1A1

genes like me logo Genes that share disorders with GUCY1A1: view

No data available for Genatlas for GUCY1A1 Gene

Publications for GUCY1A1 Gene

  1. Molecular cloning of the cDNAs coding for the two subunits of soluble guanylyl cyclase from human brain. (PMID: 1352257) Giuili G … Guellaën G (FEBS letters 1992) 2 3 4 58
  2. Loss of α1β1 soluble guanylate cyclase, the major nitric oxide receptor, leads to moyamoya and achalasia. (PMID: 24581742) Hervé D … Tournier-Lasserve E (American journal of human genetics 2014) 3 4 58
  3. Crystal structures of the catalytic domain of human soluble guanylate cyclase. (PMID: 23505436) Allerston CK … Gileadi O (PloS one 2013) 3 4 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for GUCY1A1 Gene

Sources for GUCY1A1 Gene

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