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GUCY1B1 guanylate cyclase 1 soluble subunit beta 1 [ Homo sapiens (human) ]

Gene ID: 2983, updated on 11-Apr-2024

Summary

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Official Symbol
GUCY1B1provided by HGNC
Official Full Name
guanylate cyclase 1 soluble subunit beta 1provided by HGNC
Primary source
HGNC:HGNC:4687
See related
Ensembl:ENSG00000061918 MIM:139397; AllianceGenome:HGNC:4687
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GUCB3; GC-SB3; GUC1B3; GUCSB3; GUCY1B3; GC-S-beta-1
Summary
This gene encodes the beta subunit of the soluble guanylate cyclase (sGC), which catalyzes the conversion of GTP (guanosine triphosphate) to cGMP (cyclic guanosine monophosphate). The encoded protein contains an HNOX domain, which serves as a receptor for ligands such as nitric oxide, oxygen and nitrovasodilator drugs. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
Expression
Broad expression in brain (RPKM 21.9), placenta (RPKM 13.8) and 21 other tissues See more
Orthologs
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Genomic context

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Location:
4q32.1
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (155759021..155807811)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (159091817..159140607)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (156680173..156728963)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377504 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:156473069-156473570 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:156473571-156474070 Neighboring gene Sharpr-MPRA regulatory region 7198 Neighboring gene guanylate cyclase 1 soluble subunit alpha 1 Neighboring gene uncharacterized LOC105377506 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15769 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15770 Neighboring gene uncharacterized LOC105377507 Neighboring gene acid sensing ion channel subunit family member 5 Neighboring gene tryptophan 2,3-dioxygenase

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. The molecular mechanism of heme loss from oxidized soluble guanylate cyclase induced by conformational change. Pan J, et al. Biochim Biophys Acta, 2016 May. PMID 26876536
  2. Fluorescence dequenching makes haem-free soluble guanylate cyclase detectable in living cells. Hoffmann LS, et al. PLoS One, 2011. PMID 21858179, Free PMC Article
  3. Crystal structure of the signaling helix coiled-coil domain of the beta1 subunit of the soluble guanylyl cyclase. Ma X, et al. BMC Struct Biol, 2010 Jan 27. PMID 20105301, Free PMC Article
  4. Efficient expression of human soluble guanylate cyclase in Escherichia coli and its signaling-related interaction with nitric oxide. Zhong F, et al. Amino Acids, 2010 Jul. PMID 20063108
  5. Soluble guanylate cyclase beta1-subunit expression is increased in mononuclear cells from patients with erectile dysfunction. Mateos-Cáceres PJ, et al. Int J Impot Res, 2006 Sep-Oct. PMID 16528291

See all (43) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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(1)- and β(1)-Subunits of the sGC in Cementoclasts.
  2. 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.
  3. Our observations revealed that rs7638A/C polymorphism of GUCY1B3 and the longer telomere length inclined toward adaptation to high altitude.
    Title: Elevated Vasodilatory Cyclases and Shorter Telomere Length Contribute to High-Altitude Pulmonary Edema.
  4. Human Red Blood Cells carry catalytically active alpha1beta1-soluble guanylate cyclase (isoform 1). Red cell soluble guanylate cyclase activity is fully preserved in patients with stable coronary artery disease.
    Title: Identification of a soluble guanylate cyclase in RBCs: preserved activity in patients with coronary artery disease.
  5. Inhibition of HDAC3 with targeted therapy could benefit treatment of the diseases associated with sGCbeta1 down-regulation and/or deficiency such as cancer and several vascular-related diseases.
    Title: Epigenetic regulation of soluble guanylate cyclase (sGC) β1 in breast cancer cells.
  6. The kinetics of heme loss from oxidized sGC was monitored by a new method based on the heme group de-quenching the fluorescence of FlAsH-EDT2.
    Title: The molecular mechanism of heme loss from oxidized soluble guanylate cyclase induced by conformational change.
  7. Dynamic interplay between hsp90, apo-sGC-beta1, and sGC-alpha1 in response to NO is unprecedented and represent new steps by which cells can modulate the heme content and activity of sGC for signaling cascades.
    Title: Nitric oxide and heat shock protein 90 activate soluble guanylate cyclase by driving rapid change in its subunit interactions and heme content.
  8. Gene expression in dendritic cells of CCL5 and CXCL5 as well as TIMP1 and GUCY1B3 showed a significant increase within the first 4 days after trauma.
    Title: Subsequent gene expression pattern in dendritic cells following multiple trauma.
  9. The G-protein regulator LGN modulates the activity of the NO receptor soluble guanylate cyclase
    Title: The G-protein regulator LGN modulates the activity of the NO receptor soluble guanylate cyclase.
  10. The results indicate that in comparison with the alpha-1 beta-1 isoform, the brain alpha-2 beta-1 isoform exhibits a distinctly different CO/NO affinity and binding rate in favor of NO signaling.
    Title: Structural and functional insights into the heme-binding domain of the human soluble guanylate cyclase α2 subunit and heterodimeric α2β1.
Submit: New GeneRIF Correction See all GeneRIFs (16)

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

EBI GWAS Catalog

Description
Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.
EBI GWAS Catalog
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.
EBI GWAS Catalog

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 Hsp90 protein binding IEA
Inferred from Electronic Annotation
more info
  
enables adenylate cyclase activity IEA
Inferred from Electronic Annotation
more info
  
enables cytidylate cyclase activity IEA
Inferred from Electronic Annotation
more info
  
enables guanylate cyclase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables guanylate cyclase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables heme binding ISS
Inferred from Sequence or Structural Similarity
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein-containing complex binding IEA
Inferred from Electronic Annotation
more info
  
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 IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cGMP biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in cGMP-mediated signaling IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cellular response to nitric oxide ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in nitric oxide mediated signal transduction TAS
Traceable Author Statement
more info
 PubMed 
involved_in nitric oxide-cGMP-mediated signaling IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in nitric oxide-cGMP-mediated signaling ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in response to oxygen levels IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in trans-synaptic signaling by nitric oxide, modulating synaptic transmission IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
  
part_of guanylate cyclase complex, soluble IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of guanylate cyclase complex, soluble IDA
Inferred from Direct Assay
more info
 PubMed 
part_of guanylate cyclase complex, soluble IPI
Inferred from Physical Interaction
more info
 PubMed 
located_in presynaptic active zone cytoplasmic component IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
guanylate cyclase soluble subunit beta-1
Names
GCS-beta-1
GCS-beta-3
guanylate cyclase 1, soluble, beta 3
guanylate cyclase soluble subunit beta-3
soluble guanylate cyclase small subunit
NP_000848.1
NP_001278880.1
NP_001278881.1
NP_001278882.1
NP_001278883.1
NP_001278884.1
XP_011530203.1
XP_016863620.1
XP_054205821.1
XP_054205822.1

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_000857.5 → NP_000848.1  guanylate cyclase soluble subunit beta-1 isoform 2

    See identical proteins and their annotated locations for NP_000848.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. It encodes isoform 2, which lacks an internal segment and is shorter than isoform 1.
    Source sequence(s)
    AC114761, AI189698, BC026332, DB536632, DC342619, X66533
    Consensus CDS
    CCDS47154.1
    UniProtKB/Swiss-Prot
    B7Z426, Q02153, Q86WY5
    UniProtKB/TrEMBL
    B2RCP1
    Related
    ENSP00000264424.8, ENST00000264424.13
    Conserved Domains (3) summary
    pfam00211
    Location:412 → 605
    Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
    pfam07700
    Location:2 → 166
    HNOB; Haem-NO-binding
    pfam07701
    Location:207 → 406
    HNOBA; Heme NO binding associated

  2. NM_001291951.3 → NP_001278880.1  guanylate cyclase soluble subunit beta-1 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC114761, AI189698, AK300296, AK315944, BC026332, DB536632
    Consensus CDS
    CCDS77975.1
    UniProtKB/TrEMBL
    B7Z6G8, E9PCN2
    Related
    ENSP00000426786.1, ENST00000502959.5
    Conserved Domains (4) summary
    smart00044
    Location:407 → 606
    CYCc; Adenylyl- / guanylyl cyclase, catalytic domain
    pfam00211
    Location:434 → 627
    Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
    pfam07700
    Location:2 → 188
    HNOB; Haem-NO-binding
    pfam07701
    Location:229 → 428
    HNOBA; Heme NO binding associated

  3. NM_001291952.3 → NP_001278881.1  guanylate cyclase soluble subunit beta-1 isoform 3

    See identical proteins and their annotated locations for NP_001278881.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and 5' coding region, initiates translation at an alternate start codon and lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. It encodes isoform 3, which is shorter and has a distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AC114761, AI189698, AK296680, BC026332, DB536632, DC342619
    Consensus CDS
    CCDS77977.1
    UniProtKB/TrEMBL
    B2RCP1
    Related
    ENSP00000426319.1, ENST00000505764.5
    Conserved Domains (3) summary
    pfam00211
    Location:392 → 585
    Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
    pfam07700
    Location:6 → 146
    HNOB; Haem-NO-binding
    pfam07701
    Location:187 → 386
    HNOBA; Heme NO binding associated

  4. NM_001291953.3 → NP_001278882.1  guanylate cyclase soluble subunit beta-1 isoform 4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR, initiates translation at a downstream start codon and contains multiple coding region differences, compared to variant 1. It encodes isoform 4, which is shorter than isoform 1.
    Source sequence(s)
    AC114761, AF020340, AI189698, AK307838, BC026332, DB536632, DC317249, DC342619
    Consensus CDS
    CCDS75203.1
    UniProtKB/TrEMBL
    B7Z9H9, D6RC99
    Related
    ENSP00000422313.1, ENST00000507146.5
    Conserved Domains (3) summary
    pfam00211
    Location:387 → 580
    Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
    pfam07700
    Location:1 → 98
    HNOB; Haem-NO-binding
    pfam07701
    Location:139 → 381
    HNOBA; Heme NO binding associated

  5. NM_001291954.3 → NP_001278883.1  guanylate cyclase soluble subunit beta-1 isoform 5

    See identical proteins and their annotated locations for NP_001278883.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) lacks an alternate in-frame exon in the 5' coding region and contains an alternate in-frame splice site in the 3' coding region, compared to variant 1. It encodes isoform 5, which is shorter than isoform 1.
    Source sequence(s)
    AC114761, AF020340, AI189698, BC026332, DB536632, DC342619
    Consensus CDS
    CCDS77976.1
    UniProtKB/TrEMBL
    B2RCP1
    Related
    ENSP00000420842.1, ENST00000503520.5
    Conserved Domains (3) summary
    pfam00211
    Location:392 → 572
    Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
    pfam07700
    Location:2 → 166
    HNOB; Haem-NO-binding
    pfam07701
    Location:207 → 392
    HNOBA; Heme NO binding associated

  6. NM_001291955.3 → NP_001278884.1  guanylate cyclase soluble subunit beta-1 isoform 6

    See identical proteins and their annotated locations for NP_001278884.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR and 5' coding region, initiates translation at a downstream start codon and lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. It encodes isoform 6, which is shorter than isoform 1.
    Source sequence(s)
    AC114761, AI189698, AK315944, BC026332, DB536632
    Consensus CDS
    CCDS77978.1
    UniProtKB/TrEMBL
    B7Z685, B7Z9H9
    Related
    ENSP00000427226.1, ENST00000505154.5
    Conserved Domains (3) summary
    pfam00211
    Location:344 → 537
    Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
    pfam07700
    Location:1 → 98
    HNOB; Haem-NO-binding
    pfam07701
    Location:139 → 338
    HNOBA; Heme NO binding associated

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    155759021..155807811
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011531901.2 → XP_011530203.1  guanylate cyclase soluble subunit beta-1 isoform X1

    See identical proteins and their annotated locations for XP_011530203.1

    UniProtKB/TrEMBL
    B2RCP1
    Conserved Domains (3) summary
    pfam00211
    Location:455 → 648
    Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
    pfam07700
    Location:2 → 166
    HNOB; Haem-NO-binding
    pfam07701
    Location:207 → 449
    HNOBA; Heme NO binding associated

  2. XM_017008131.3 → XP_016863620.1  guanylate cyclase soluble subunit beta-1 isoform X2

    UniProtKB/TrEMBL
    B7Z9H9, D6RC99
    Conserved Domains (3) summary
    pfam00211
    Location:387 → 580
    Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
    pfam07700
    Location:1 → 98
    HNOB; Haem-NO-binding
    pfam07701
    Location:139 → 381
    HNOBA; Heme NO binding associated

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    159091817..159140607
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054349846.1 → XP_054205821.1  guanylate cyclase soluble subunit beta-1 isoform X1

  2. XM_054349847.1 → XP_054205822.1  guanylate cyclase soluble subunit beta-1 isoform X2

    UniProtKB/TrEMBL
    D6RC99
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q02153.1 GenPept UniProtKB/Swiss-Prot:Q02153

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