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GUCY1A1 guanylate cyclase 1 soluble subunit alpha 1 [ Homo sapiens (human) ]

Gene ID: 2982, updated on 19-Sep-2021

Summary

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Official Symbol
GUCY1A1provided by HGNC
Official Full Name
guanylate cyclase 1 soluble subunit alpha 1provided by HGNC
Primary source
HGNC:HGNC:4685
See related
Ensembl:ENSG00000164116 MIM:139396
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
GUCA3; MYMY6; GC-SA3; GUC1A3; GUCSA3; GUCY1A3; GCS-alpha-3; GC-S-alpha-1
Summary
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]
Expression
Ubiquitous expression in prostate (RPKM 11.3), heart (RPKM 8.5) and 24 other tissues See more
Orthologs
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Genomic context

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See GUCY1A1 in Genome Data Viewer
Location:
4q32.1
Exon count:
13
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (155666725..155737059)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (156588000..156658211)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377505 Neighboring gene uncharacterized LOC105377504 Neighboring gene uncharacterized LOC107984032 Neighboring gene uncharacterized LOC105377506 Neighboring gene guanylate cyclase 1 soluble subunit beta 1 Neighboring gene uncharacterized LOC105377507 Neighboring gene acid sensing ion channel subunit family member 5

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Higher susceptibility to heme oxidation and lower protein stability of the rare α1C517Yβ1 sGC variant associated with moyamoya syndrome. Sharina I, et al. Biochem Pharmacol, 2021 Apr. PMID 33571505,
  2. Associations between GUCY1A3 genetic polymorphisms and large artery atherosclerotic stroke risk in Chinese Han population: a case-control study. Li JL, et al. Lipids Health Dis, 2019 Dec 28. PMID 31883534, Free PMC Article
  3. Soluble guanylyl cyclase α1 subunit is a key mediator of proliferation, survival, and migration in ECC-1 and HeLa cell lines. Ronchetti SA, et al. Sci Rep, 2019 Oct 15. PMID 31616026, Free PMC Article
  4. Genetic variation at the coronary artery disease risk locus GUCY1A3 modifies cardiovascular disease prevention effects of aspirin. Hall KT, et al. Eur Heart J, 2019 Nov 1. PMID 31228190, Free PMC Article
  5. Association of the coronary artery disease risk gene GUCY1A3 with ischaemic events after coronary intervention. Kessler T, et al. Cardiovasc Res, 2019 Aug 1. PMID 30768153

See all (52) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Higher susceptibility to heme oxidation and lower protein stability of the rare alpha1C517Ybeta1 sGC variant associated with moyamoya syndrome.
    Title: Higher susceptibility to heme oxidation and lower protein stability of the rare α<sub>1</sub>C517Yβ<sub>1</sub> sGC variant associated with moyamoya syndrome.
  2. Inflammation in the Human Periodontium Induces Downregulation of the alpha1- and beta1-Subunits of the sGC in Cementoclasts.
    Title: Inflammation in the Human Periodontium Induces Downregulation of the α<sub>1</sub>- and β<sub>1</sub>-Subunits of the sGC in Cementoclasts.
  3. Soluble guanylyl cyclase alpha1 subunit is a key mediator of proliferation, survival, and migration in ECC-1 and HeLa cell lines.
    Title: Soluble guanylyl cyclase α1 subunit is a key mediator of proliferation, survival, and migration in ECC-1 and HeLa cell lines.
  4. Genetic variation at the coronary artery disease risk locus GUCY1A3 modifies cardiovascular disease prevention effects of aspirin.
    Title: Genetic variation at the coronary artery disease risk locus GUCY1A3 modifies cardiovascular disease prevention effects of aspirin.
  5. Results suggest mechanistic insights into the molecular pathway for soluble guanylyl cyclase (sGC) activation.
    Title: Synergistic mutations in soluble guanylyl cyclase (sGC) reveal a key role for interfacial regions in the sGC activation mechanism.
  6. Homozygous GUCY1A3 risk allele carriers are at increased risk of cardiovascular death or stent thrombosis within 30 days after coronary stenting, likely due to higher on-aspirin platelet reactivity.
    Title: Association of the coronary artery disease risk gene GUCY1A3 with ischaemic events after coronary intervention.
  7. Our results indicate that the GUCY1A3 rs1842896 polymorphism is an large artery atherosclerotic (LAA) stroke risk factor in Southern Han Chinese.
    Title: Associations between GUCY1A3 genetic polymorphisms and large artery atherosclerotic stroke risk in Chinese Han population: a case-control study.
  8. Genetic predisposition to enhanced nitric oxide signaling was associated with reduced blood pressure, improved renal and pulmonary function, and significantly reduced risks of coronary heart disease in people with rs7692387 GUCY1A3 variant.
    Title: Phenotypic Consequences of a Genetic Predisposition to Enhanced Nitric Oxide Signaling.
  9. data have provided some evidence for an alteration in the expression of alpha1 and beta1 oluble guanylyl cyclase alternative splicing forms which may contribute to the loss of sGC functions in breast cancer
    Title: Differential expression of alternative transcripts of soluble guanylyl cyclase, GYCY1a3 and GUCY1b3 genes, in the malignant and benign breast tumors.
  10. GCAP1 and GCAP2 bound to different regions on the target guanylate cyclase type 1 with submicromolar affinity (apparent KD-values of 663 +/- 121 nM and 231 +/- 63 nM for Ca(2+)-free GCAP1 and GCAP2, respectively).
    Title: Label-free quantification of calcium-sensor targeting to photoreceptor guanylate cyclase and rhodopsin kinase by backscattering interferometry.
Submit: New GeneRIF Correction See all GeneRIFs (28)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.
GeneReviews: Not available
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.
GeneReviews: Not available
Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.
GeneReviews: Not available
Genome-wide association study in Han Chinese identifies four new susceptibility loci for coronary artery disease.
GeneReviews: Not available
Moyamoya disease 6 with achalasia
MedGen: C3810403 OMIM: 615750 GeneReviews: Not available
Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Tat tat HIV-1 Tat potentiates NMDA-evoked (Ca2+)I responses involve LRP and a Src family kinase via the NOS/sGC/PKG pathway PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables GTP binding IEA
Inferred from Electronic Annotation
more info
  
enables guanylate cyclase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables heme binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables signaling receptor activity TAS
Traceable Author Statement
more info
 PubMed 
Process Evidence Code Pubs
involved_in blood circulation TAS
Traceable Author Statement
more info
 PubMed 
involved_in cGMP biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in nitric oxide mediated signal transduction TAS
Traceable Author Statement
more info
 PubMed 
involved_in positive regulation of nitric oxide mediated signal transduction IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of blood pressure IEA
Inferred from Electronic Annotation
more info
  
involved_in relaxation of vascular associated smooth muscle IEA
Inferred from Electronic Annotation
more info
  
involved_in retrograde trans-synaptic signaling by nitric oxide, modulating synaptic transmission IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in GABA-ergic synapse IEA
Inferred from Electronic Annotation
more info
  
located_in glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
  
part_of guanylate cyclase complex, soluble IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
guanylate cyclase soluble subunit alpha-1
Names
guanylate cyclase 1, soluble, alpha 3
soluble guanylate cyclase large subunit
NP_000847.2
NP_001124154.1
NP_001124155.1
NP_001124156.1
NP_001124157.1
NP_001124159.1
NP_001243378.1
NP_001366595.1
NP_001366596.1
NP_001366597.1
NP_001366598.1
NP_001366599.1
NP_001366600.1
NP_001366601.1
NP_001366602.1
NP_001366603.1
NP_001366604.1
NP_001366605.1
XP_005263013.1
XP_005263014.1
XP_011530202.1

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.

Genomic

  1. NG_034128.1 RefSeqGene

    Range
    5139..75350
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000856.6 → NP_000847.2  guanylate cyclase soluble subunit alpha-1 isoform A

    See identical proteins and their annotated locations for NP_000847.2

    Status: REVIEWED

    Source sequence(s)
    AC104083, CD671731, Y15723
    Consensus CDS
    CCDS34085.1
    UniProtKB/Swiss-Prot
    Q02108
    Related
    ENSP00000421493.1, ENST00000511108.5
    Conserved Domains (2) summary
    pfam00211
    Location:472 → 643
    Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
    pfam07701
    Location:277 → 466
    HNOBA; Heme NO binding associated

  2. NM_001130682.3 → NP_001124154.1  guanylate cyclase soluble subunit alpha-1 isoform A

    See identical proteins and their annotated locations for NP_001124154.1

    Status: REVIEWED

    Source sequence(s)
    AC104083, CD671731, DA793192, Y15723
    Consensus CDS
    CCDS34085.1
    UniProtKB/Swiss-Prot
    Q02108
    Related
    ENSP00000424361.1, ENST00000506455.6
    Conserved Domains (2) summary
    pfam00211
    Location:472 → 643
    Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
    pfam07701
    Location:277 → 466
    HNOBA; Heme NO binding associated

  3. NM_001130683.4 → NP_001124155.1  guanylate cyclase soluble subunit alpha-1 isoform A

    See identical proteins and their annotated locations for NP_001124155.1

    Status: REVIEWED

    Source sequence(s)
    AC104083, AK226125, BX649180, CD671731, DA518091
    Consensus CDS
    CCDS34085.1
    UniProtKB/Swiss-Prot
    Q02108
    Related
    ENSP00000296518.7, ENST00000296518.11
    Conserved Domains (2) summary
    pfam00211
    Location:472 → 643
    Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
    pfam07701
    Location:277 → 466
    HNOBA; Heme NO binding associated

  4. NM_001130684.3 → NP_001124156.1  guanylate cyclase soluble subunit alpha-1 isoform A

    See identical proteins and their annotated locations for NP_001124156.1

    Status: REVIEWED

    Source sequence(s)
    AC104083, CD671731, Y15723
    Consensus CDS
    CCDS34085.1
    UniProtKB/Swiss-Prot
    Q02108
    Related
    ENSP00000426040.1, ENST00000513574.1
    Conserved Domains (2) summary
    pfam00211
    Location:472 → 643
    Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
    pfam07701
    Location:277 → 466
    HNOBA; Heme NO binding associated

  5. NM_001130685.3 → NP_001124157.1  guanylate cyclase soluble subunit alpha-1 isoform B

    See identical proteins and their annotated locations for NP_001124157.1

    Status: REVIEWED

    Source sequence(s)
    AC104083, AK226125, CD671731, DA518091
    Related
    ENSP00000377418.3, ENST00000393832.7
    Conserved Domains (4) summary
    smart00044
    Location:210 → 399
    CYCc; Adenylyl- / guanylyl cyclase, catalytic domain
    pfam00211
    Location:237 → 408
    Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
    pfam07701
    Location:42 → 231
    HNOBA; Heme NO binding associated
    cl01153
    Location:395 → 441
    NapB; Nitrate reductase cytochrome c-type subunit (NapB)

  6. NM_001130687.3 → NP_001124159.1  guanylate cyclase soluble subunit alpha-1 isoform D

    Status: REVIEWED

    Source sequence(s)
    AC104083
    Consensus CDS
    CCDS54812.1
    UniProtKB/Swiss-Prot
    Q02108
    Related
    ENSP00000426968.1, ENST00000511507.5
    Conserved Domains (4) summary
    smart00044
    Location:445 → 624
    CYCc; Adenylyl- / guanylyl cyclase, catalytic domain
    pfam00211
    Location:472 → 624
    Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
    pfam07700
    Location:126 → 235
    HNOB; Haem-NO-binding
    pfam07701
    Location:277 → 466
    HNOBA; Heme NO binding associated

  7. NM_001256449.2 → NP_001243378.1  guanylate cyclase soluble subunit alpha-1 isoform A

    See identical proteins and their annotated locations for NP_001243378.1

    Status: REVIEWED

    Source sequence(s)
    AC104083, AK096588, CD671731, Y15723
    Consensus CDS
    CCDS34085.1
    UniProtKB/Swiss-Prot
    Q02108
    UniProtKB/TrEMBL
    B3KU69
    Related
    ENSP00000412201.2, ENST00000455639.6
    Conserved Domains (2) summary
    pfam00211
    Location:472 → 643
    Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
    pfam07701
    Location:277 → 466
    HNOBA; Heme NO binding associated

  8. NM_001379666.1 → NP_001366595.1  guanylate cyclase soluble subunit alpha-1 isoform A

    Status: REVIEWED

    Source sequence(s)
    AC104083
    Conserved Domains (2) summary
    pfam00211
    Location:472 → 643
    Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
    pfam07701
    Location:277 → 466
    HNOBA; Heme NO binding associated

  9. NM_001379667.1 → NP_001366596.1  guanylate cyclase soluble subunit alpha-1 isoform A

    Status: REVIEWED

    Source sequence(s)
    AC104083
    Conserved Domains (2) summary
    pfam00211
    Location:472 → 643
    Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
    pfam07701
    Location:277 → 466
    HNOBA; Heme NO binding associated

  10. NM_001379668.1 → NP_001366597.1  guanylate cyclase soluble subunit alpha-1 isoform A

    Status: REVIEWED

    Source sequence(s)
    AC104083
    Conserved Domains (2) summary
    pfam00211
    Location:472 → 643
    Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
    pfam07701
    Location:277 → 466
    HNOBA; Heme NO binding associated

  11. NM_001379669.1 → NP_001366598.1  guanylate cyclase soluble subunit alpha-1 isoform A

    Status: REVIEWED

    Source sequence(s)
    AC104083
    Conserved Domains (2) summary
    pfam00211
    Location:472 → 643
    Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
    pfam07701
    Location:277 → 466
    HNOBA; Heme NO binding associated

  12. NM_001379670.1 → NP_001366599.1  guanylate cyclase soluble subunit alpha-1 isoform A

    Status: REVIEWED

    Source sequence(s)
    AC104083
    Conserved Domains (2) summary
    pfam00211
    Location:472 → 643
    Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
    pfam07701
    Location:277 → 466
    HNOBA; Heme NO binding associated

  13. NM_001379671.1 → NP_001366600.1  guanylate cyclase soluble subunit alpha-1 isoform A

    Status: REVIEWED

    Source sequence(s)
    AC104083
    Conserved Domains (2) summary
    pfam00211
    Location:472 → 643
    Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
    pfam07701
    Location:277 → 466
    HNOBA; Heme NO binding associated

  14. NM_001379672.1 → NP_001366601.1  guanylate cyclase soluble subunit alpha-1 isoform A

    Status: REVIEWED

    Source sequence(s)
    AC104083
    Conserved Domains (2) summary
    pfam00211
    Location:472 → 643
    Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
    pfam07701
    Location:277 → 466
    HNOBA; Heme NO binding associated

  15. NM_001379673.1 → NP_001366602.1  guanylate cyclase soluble subunit alpha-1 isoform A

    Status: REVIEWED

    Source sequence(s)
    AC104083
    Conserved Domains (2) summary
    pfam00211
    Location:472 → 643
    Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
    pfam07701
    Location:277 → 466
    HNOBA; Heme NO binding associated

  16. NM_001379674.1 → NP_001366603.1  guanylate cyclase soluble subunit alpha-1 isoform A

    Status: REVIEWED

    Source sequence(s)
    AC104083
    Conserved Domains (2) summary
    pfam00211
    Location:472 → 643
    Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
    pfam07701
    Location:277 → 466
    HNOBA; Heme NO binding associated

  17. NM_001379675.1 → NP_001366604.1  guanylate cyclase soluble subunit alpha-1 isoform E

    Status: REVIEWED

    Source sequence(s)
    AC104083
    Conserved Domains (2) summary
    smart00044
    Location:445 → 573
    CYCc; Adenylyl- / guanylyl cyclase, catalytic domain
    pfam07701
    Location:277 → 466
    HNOBA; Heme NO binding associated

  18. NM_001379676.1 → NP_001366605.1  guanylate cyclase soluble subunit alpha-1 isoform F

    Status: REVIEWED

    Source sequence(s)
    AC104083
    Conserved Domains (2) summary
    pfam00211
    Location:303 → 474
    Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
    pfam07701
    Location:126 → 297
    HNOBA; Heme NO binding associated

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    155666725..155737059
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005262957.3 → XP_005263014.1  guanylate cyclase soluble subunit alpha-1 isoform X2

    See identical proteins and their annotated locations for XP_005263014.1

    Conserved Domains (4) summary
    smart00044
    Location:210 → 399
    CYCc; Adenylyl- / guanylyl cyclase, catalytic domain
    pfam00211
    Location:237 → 408
    Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
    pfam07701
    Location:42 → 231
    HNOBA; Heme NO binding associated
    cl01153
    Location:395 → 441
    NapB; Nitrate reductase cytochrome c-type subunit (NapB)

  2. XM_005262956.3 → XP_005263013.1  guanylate cyclase soluble subunit alpha-1 isoform X2

    See identical proteins and their annotated locations for XP_005263013.1

    Conserved Domains (4) summary
    smart00044
    Location:210 → 399
    CYCc; Adenylyl- / guanylyl cyclase, catalytic domain
    pfam00211
    Location:237 → 408
    Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
    pfam07701
    Location:42 → 231
    HNOBA; Heme NO binding associated
    cl01153
    Location:395 → 441
    NapB; Nitrate reductase cytochrome c-type subunit (NapB)

  3. XM_011531900.2 → XP_011530202.1  guanylate cyclase soluble subunit alpha-1 isoform X2

    See identical proteins and their annotated locations for XP_011530202.1

    Conserved Domains (4) summary
    smart00044
    Location:210 → 399
    CYCc; Adenylyl- / guanylyl cyclase, catalytic domain
    pfam00211
    Location:237 → 408
    Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
    pfam07701
    Location:42 → 231
    HNOBA; Heme NO binding associated
    cl01153
    Location:395 → 441
    NapB; Nitrate reductase cytochrome c-type subunit (NapB)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001130686.1: Suppressed sequence

    Description
    NM_001130686.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q02108.2 GenPept UniProtKB/Swiss-Prot:Q02108

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