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

Gene ID: 2983, updated on 28-Jun-2020

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
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

Genomic context

See GUCY1B1 in Genome Data Viewer
Location:
4q32.1
Exon count:
18
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (155759021..155807811)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (156680126..156728783)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377504 Neighboring gene guanylate cyclase 1 soluble subunit alpha 1 Neighboring gene uncharacterized LOC107984032 Neighboring gene uncharacterized LOC105377506 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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

HIV-1 interactions

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTP binding IEA
Inferred from Electronic Annotation
more info
 
guanylate cyclase activity IDA
Inferred from Direct Assay
more info
PubMed 
heme binding ISS
Inferred from Sequence or Structural Similarity
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
signaling receptor activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
blood circulation TAS
Traceable Author Statement
more info
PubMed 
cGMP biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
cGMP-mediated signaling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular response to nitric oxide ISS
Inferred from Sequence or Structural Similarity
more info
 
nitric oxide mediated signal transduction TAS
Traceable Author Statement
more info
PubMed 
nitric oxide-cGMP-mediated signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
trans-synaptic signaling by nitric oxide, modulating synaptic transmission IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
guanylate cyclase complex, soluble IDA
Inferred from Direct Assay
more info
PubMed 
presynaptic active zone IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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_016863619.1
XP_016863620.1
XP_016863621.1
XP_016863622.1

NCBI Reference Sequences (RefSeq)

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_000857.5NP_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
    Q02153
    Related
    ENSP00000264424.8, ENST00000264424.12
    Conserved Domains (3) summary
    pfam00211
    Location:412605
    Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
    pfam07700
    Location:2166
    HNOB; Haem-NO-binding
    pfam07701
    Location:207406
    HNOBA; Heme NO binding associated
  2. NM_001291951.2NP_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, B7Z9H9, E9PCN2
    Related
    ENSP00000426786.1, ENST00000502959.5
    Conserved Domains (4) summary
    smart00044
    Location:407606
    CYCc; Adenylyl- / guanylyl cyclase, catalytic domain
    pfam00211
    Location:434627
    Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
    pfam07700
    Location:2188
    HNOB; Haem-NO-binding
    pfam07701
    Location:229428
    HNOBA; Heme NO binding associated
  3. NM_001291952.2NP_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/Swiss-Prot
    Q02153
    Related
    ENSP00000426319.1, ENST00000505764.5
    Conserved Domains (3) summary
    pfam00211
    Location:392585
    Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
    pfam07700
    Location:6146
    HNOB; Haem-NO-binding
    pfam07701
    Location:187386
    HNOBA; Heme NO binding associated
  4. NM_001291953.2NP_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/Swiss-Prot
    Q02153
    UniProtKB/TrEMBL
    D6RC99
    Related
    ENSP00000422313.1, ENST00000507146.5
    Conserved Domains (3) summary
    pfam00211
    Location:387580
    Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
    pfam07700
    Location:198
    HNOB; Haem-NO-binding
    pfam07701
    Location:139381
    HNOBA; Heme NO binding associated
  5. NM_001291954.2NP_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/Swiss-Prot
    Q02153
    Related
    ENSP00000420842.1, ENST00000503520.5
    Conserved Domains (3) summary
    pfam00211
    Location:392572
    Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
    pfam07700
    Location:2166
    HNOB; Haem-NO-binding
    pfam07701
    Location:207392
    HNOBA; Heme NO binding associated
  6. NM_001291955.2NP_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:344537
    Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
    pfam07700
    Location:198
    HNOB; Haem-NO-binding
    pfam07701
    Location:139338
    HNOBA; Heme NO binding associated

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

mRNA and Protein(s)

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

    UniProtKB/TrEMBL
    D6RC99
    Conserved Domains (3) summary
    pfam00211
    Location:387580
    Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
    pfam07700
    Location:198
    HNOB; Haem-NO-binding
    pfam07701
    Location:139381
    HNOBA; Heme NO binding associated
  2. XM_011531901.1XP_011530203.1  guanylate cyclase soluble subunit beta-1 isoform X1

    See identical proteins and their annotated locations for XP_011530203.1

    Conserved Domains (3) summary
    pfam00211
    Location:455648
    Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
    pfam07700
    Location:2166
    HNOB; Haem-NO-binding
    pfam07701
    Location:207449
    HNOBA; Heme NO binding associated
  3. XM_017008130.1XP_016863619.1  guanylate cyclase soluble subunit beta-1 isoform X2

    UniProtKB/TrEMBL
    D6RC99
    Conserved Domains (3) summary
    pfam00211
    Location:387580
    Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
    pfam07700
    Location:198
    HNOB; Haem-NO-binding
    pfam07701
    Location:139381
    HNOBA; Heme NO binding associated
  4. XM_017008132.1XP_016863621.1  guanylate cyclase soluble subunit beta-1 isoform X3

    UniProtKB/TrEMBL
    B7Z685
    Related
    ENSP00000425065.1, ENST00000513437.1
    Conserved Domains (3) summary
    pfam00211
    Location:344537
    Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
    pfam07700
    Location:198
    HNOB; Haem-NO-binding
    pfam07701
    Location:139338
    HNOBA; Heme NO binding associated
  5. XM_017008133.1XP_016863622.1  guanylate cyclase soluble subunit beta-1 isoform X3

    UniProtKB/TrEMBL
    B7Z685
    Conserved Domains (3) summary
    pfam00211
    Location:344537
    Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
    pfam07700
    Location:198
    HNOB; Haem-NO-binding
    pfam07701
    Location:139338
    HNOBA; Heme NO binding associated
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