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

    Gene ID: 2983, updated on 9-Dec-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See GUCY1B1 in Genome Data Viewer
    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_000004.12Genomic 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

    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

    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

    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

    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

    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)

    NEW Try the new Transcript table

    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
      B7Z426, Q02153, Q86WY5
      UniProtKB/TrEMBL
      B2RCP1
      Related
      ENSP00000264424.8, ENST00000264424.13
      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_001291951.3NP_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: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_001291952.3NP_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: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_001291953.3NP_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: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_001291954.3NP_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: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_001291955.3NP_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: 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

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_011531901.2XP_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:455648
      Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
      pfam07700
      Location:2166
      HNOB; Haem-NO-binding
      pfam07701
      Location:207449
      HNOBA; Heme NO binding associated
    2. XM_017008131.3XP_016863620.1  guanylate cyclase soluble subunit beta-1 isoform X2

      UniProtKB/TrEMBL
      B7Z9H9, 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

    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_054349846.1XP_054205821.1  guanylate cyclase soluble subunit beta-1 isoform X1

      UniProtKB/TrEMBL
      B2RCP1
    2. XM_054349847.1XP_054205822.1  guanylate cyclase soluble subunit beta-1 isoform X2

      UniProtKB/TrEMBL
      B7Z9H9, D6RC99