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

Summary

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: mouse all
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Genomic context

Location:: 4q32.1

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (155759021..155807811)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (159091817..159140607)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (156680173..156728963)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.
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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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 EBI GWAS CatalogPubMed
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

STS-X66533 (e-PCR)
- UniSTS:44647

WI-19177 (e-PCR)
- UniSTS:67233

G62065 (e-PCR)
- UniSTS:139180

SHGC-59802 (e-PCR)
- UniSTS:5313

GUCY1B3__6678 (e-PCR)
- UniSTS:463598

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 nitric oxide 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

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

EC 4.6.1.2

NP_001278880.1

EC 4.6.1.2

NP_001278881.1

EC 4.6.1.2

NP_001278882.1

EC 4.6.1.2

NP_001278883.1

EC 4.6.1.2

NP_001278884.1

EC 4.6.1.2

XP_011530203.1

EC 4.6.1.2

XP_016863620.1

EC 4.6.1.2

XP_054205821.1

EC 4.6.1.2

XP_054205822.1

EC 4.6.1.2

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)

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
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
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
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
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
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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000004.12 Reference GRCh38.p14 Primary Assembly

Range

155759021..155807811

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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

NC_060928.1 Alternate T2T-CHM13v2.0

Range

159091817..159140607

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054349846.1 → XP_054205821.1 guanylate cyclase soluble subunit beta-1 isoform X1
XM_054349847.1 → XP_054205822.1 guanylate cyclase soluble subunit beta-1 isoform X2

UniProtKB/TrEMBL

D6RC99