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

    Gene ID: 2982, updated on 10-Dec-2024

    Summary

    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; AllianceGenome:HGNC:4685
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See GUCY1A1 in Genome Data Viewer
    Location:
    4q32.1
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (155666848..155737059)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (158999647..159069856)
    RS_2024_09 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 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 uncharacterized LOC105377506 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15769 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15770 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

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Moyamoya disease with early-onset achalasia
    MedGen: C3810403 OMIM: 615750 GeneReviews: Not available
    Compare labs

    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
    Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.
    EBI GWAS Catalog
    Genome-wide association study in Han Chinese identifies four new susceptibility loci for coronary artery disease.
    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 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 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 
    Component Evidence Code Pubs
    located_in GABA-ergic synapse IEA
    Inferred from Electronic Annotation
    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 

    General protein information

    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_047306099.1
    XP_047306100.1
    XP_047306102.1
    XP_047306103.1
    XP_047306104.1
    XP_054205815.1
    XP_054205816.1
    XP_054205817.1
    XP_054205818.1
    XP_054205819.1
    XP_054205820.1

    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.

    Genomic

    1. NG_034128.1 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_000856.6NP_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
      D3DP19, D6RDW3, O43843, Q02108, Q8TAH3
      UniProtKB/TrEMBL
      B3KU69
      Related
      ENSP00000421493.1, ENST00000511108.5
      Conserved Domains (2) summary
      pfam00211
      Location:472643
      Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
      pfam07701
      Location:277466
      HNOBA; Heme NO binding associated
    2. NM_001130682.3NP_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
      D3DP19, D6RDW3, O43843, Q02108, Q8TAH3
      UniProtKB/TrEMBL
      B3KU69
      Related
      ENSP00000424361.1, ENST00000506455.6
      Conserved Domains (2) summary
      pfam00211
      Location:472643
      Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
      pfam07701
      Location:277466
      HNOBA; Heme NO binding associated
    3. NM_001130683.4NP_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
      D3DP19, D6RDW3, O43843, Q02108, Q8TAH3
      UniProtKB/TrEMBL
      B3KU69
      Related
      ENSP00000296518.7, ENST00000296518.11
      Conserved Domains (2) summary
      pfam00211
      Location:472643
      Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
      pfam07701
      Location:277466
      HNOBA; Heme NO binding associated
    4. NM_001130684.3NP_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
      D3DP19, D6RDW3, O43843, Q02108, Q8TAH3
      UniProtKB/TrEMBL
      B3KU69
      Related
      ENSP00000426040.1, ENST00000513574.1
      Conserved Domains (2) summary
      pfam00211
      Location:472643
      Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
      pfam07701
      Location:277466
      HNOBA; Heme NO binding associated
    5. NM_001130685.3NP_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
      UniProtKB/TrEMBL
      J3KPQ8
      Related
      ENSP00000377418.3, ENST00000393832.7
      Conserved Domains (4) summary
      smart00044
      Location:210399
      CYCc; Adenylyl- / guanylyl cyclase, catalytic domain
      pfam00211
      Location:237408
      Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
      pfam07701
      Location:42231
      HNOBA; Heme NO binding associated
      cl01153
      Location:395441
      NapB; Nitrate reductase cytochrome c-type subunit (NapB)
    6. NM_001130687.3NP_001124159.1  guanylate cyclase soluble subunit alpha-1 isoform D

      Status: REVIEWED

      Source sequence(s)
      AC104083
      Consensus CDS
      CCDS54812.1
      UniProtKB/TrEMBL
      B3KU69
      Related
      ENSP00000426968.1, ENST00000511507.5
      Conserved Domains (4) summary
      smart00044
      Location:445624
      CYCc; Adenylyl- / guanylyl cyclase, catalytic domain
      pfam00211
      Location:472624
      Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
      pfam07700
      Location:126235
      HNOB; Haem-NO-binding
      pfam07701
      Location:277466
      HNOBA; Heme NO binding associated
    7. NM_001256449.2NP_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
      D3DP19, D6RDW3, O43843, Q02108, Q8TAH3
      UniProtKB/TrEMBL
      B3KU69
      Related
      ENSP00000412201.2, ENST00000455639.6
      Conserved Domains (2) summary
      pfam00211
      Location:472643
      Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
      pfam07701
      Location:277466
      HNOBA; Heme NO binding associated
    8. NM_001379666.1NP_001366595.1  guanylate cyclase soluble subunit alpha-1 isoform A

      Status: REVIEWED

      Source sequence(s)
      AC104083
      Consensus CDS
      CCDS34085.1
      UniProtKB/Swiss-Prot
      D3DP19, D6RDW3, O43843, Q02108, Q8TAH3
      UniProtKB/TrEMBL
      B3KU69
      Conserved Domains (2) summary
      pfam00211
      Location:472643
      Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
      pfam07701
      Location:277466
      HNOBA; Heme NO binding associated
    9. NM_001379667.1NP_001366596.1  guanylate cyclase soluble subunit alpha-1 isoform A

      Status: REVIEWED

      Source sequence(s)
      AC104083
      Consensus CDS
      CCDS34085.1
      UniProtKB/Swiss-Prot
      D3DP19, D6RDW3, O43843, Q02108, Q8TAH3
      UniProtKB/TrEMBL
      B3KU69
      Conserved Domains (2) summary
      pfam00211
      Location:472643
      Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
      pfam07701
      Location:277466
      HNOBA; Heme NO binding associated
    10. NM_001379668.1NP_001366597.1  guanylate cyclase soluble subunit alpha-1 isoform A

      Status: REVIEWED

      Source sequence(s)
      AC104083
      Consensus CDS
      CCDS34085.1
      UniProtKB/Swiss-Prot
      D3DP19, D6RDW3, O43843, Q02108, Q8TAH3
      UniProtKB/TrEMBL
      B3KU69
      Conserved Domains (2) summary
      pfam00211
      Location:472643
      Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
      pfam07701
      Location:277466
      HNOBA; Heme NO binding associated
    11. NM_001379669.1NP_001366598.1  guanylate cyclase soluble subunit alpha-1 isoform A

      Status: REVIEWED

      Source sequence(s)
      AC104083
      Consensus CDS
      CCDS34085.1
      UniProtKB/Swiss-Prot
      D3DP19, D6RDW3, O43843, Q02108, Q8TAH3
      UniProtKB/TrEMBL
      B3KU69
      Conserved Domains (2) summary
      pfam00211
      Location:472643
      Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
      pfam07701
      Location:277466
      HNOBA; Heme NO binding associated
    12. NM_001379670.1NP_001366599.1  guanylate cyclase soluble subunit alpha-1 isoform A

      Status: REVIEWED

      Source sequence(s)
      AC104083
      Consensus CDS
      CCDS34085.1
      UniProtKB/Swiss-Prot
      D3DP19, D6RDW3, O43843, Q02108, Q8TAH3
      UniProtKB/TrEMBL
      B3KU69
      Conserved Domains (2) summary
      pfam00211
      Location:472643
      Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
      pfam07701
      Location:277466
      HNOBA; Heme NO binding associated
    13. NM_001379671.1NP_001366600.1  guanylate cyclase soluble subunit alpha-1 isoform A

      Status: REVIEWED

      Source sequence(s)
      AC104083
      Consensus CDS
      CCDS34085.1
      UniProtKB/Swiss-Prot
      D3DP19, D6RDW3, O43843, Q02108, Q8TAH3
      UniProtKB/TrEMBL
      B3KU69
      Conserved Domains (2) summary
      pfam00211
      Location:472643
      Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
      pfam07701
      Location:277466
      HNOBA; Heme NO binding associated
    14. NM_001379672.1NP_001366601.1  guanylate cyclase soluble subunit alpha-1 isoform A

      Status: REVIEWED

      Source sequence(s)
      AC104083
      Consensus CDS
      CCDS34085.1
      UniProtKB/Swiss-Prot
      D3DP19, D6RDW3, O43843, Q02108, Q8TAH3
      UniProtKB/TrEMBL
      B3KU69
      Conserved Domains (2) summary
      pfam00211
      Location:472643
      Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
      pfam07701
      Location:277466
      HNOBA; Heme NO binding associated
    15. NM_001379673.1NP_001366602.1  guanylate cyclase soluble subunit alpha-1 isoform A

      Status: REVIEWED

      Source sequence(s)
      AC104083
      Consensus CDS
      CCDS34085.1
      UniProtKB/Swiss-Prot
      D3DP19, D6RDW3, O43843, Q02108, Q8TAH3
      UniProtKB/TrEMBL
      B3KU69
      Conserved Domains (2) summary
      pfam00211
      Location:472643
      Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
      pfam07701
      Location:277466
      HNOBA; Heme NO binding associated
    16. NM_001379674.1NP_001366603.1  guanylate cyclase soluble subunit alpha-1 isoform A

      Status: REVIEWED

      Source sequence(s)
      AC104083
      Consensus CDS
      CCDS34085.1
      UniProtKB/Swiss-Prot
      D3DP19, D6RDW3, O43843, Q02108, Q8TAH3
      UniProtKB/TrEMBL
      B3KU69
      Conserved Domains (2) summary
      pfam00211
      Location:472643
      Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
      pfam07701
      Location:277466
      HNOBA; Heme NO binding associated
    17. NM_001379675.1NP_001366604.1  guanylate cyclase soluble subunit alpha-1 isoform E

      Status: REVIEWED

      Source sequence(s)
      AC104083
      UniProtKB/TrEMBL
      B3KU69
      Conserved Domains (2) summary
      smart00044
      Location:445573
      CYCc; Adenylyl- / guanylyl cyclase, catalytic domain
      pfam07701
      Location:277466
      HNOBA; Heme NO binding associated
    18. NM_001379676.1NP_001366605.1  guanylate cyclase soluble subunit alpha-1 isoform F

      Status: REVIEWED

      Source sequence(s)
      AC104083
      Conserved Domains (2) summary
      pfam00211
      Location:303474
      Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
      pfam07701
      Location:126297
      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
      155666848..155737059
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005262957.4XP_005263014.1  guanylate cyclase soluble subunit alpha-1 isoform X3

      See identical proteins and their annotated locations for XP_005263014.1

      UniProtKB/TrEMBL
      J3KPQ8
      Conserved Domains (4) summary
      smart00044
      Location:210399
      CYCc; Adenylyl- / guanylyl cyclase, catalytic domain
      pfam00211
      Location:237408
      Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
      pfam07701
      Location:42231
      HNOBA; Heme NO binding associated
      cl01153
      Location:395441
      NapB; Nitrate reductase cytochrome c-type subunit (NapB)
    2. XM_047450144.1XP_047306100.1  guanylate cyclase soluble subunit alpha-1 isoform X1

      UniProtKB/Swiss-Prot
      D3DP19, D6RDW3, O43843, Q02108, Q8TAH3
      UniProtKB/TrEMBL
      B3KU69
    3. XM_005262956.4XP_005263013.1  guanylate cyclase soluble subunit alpha-1 isoform X3

      See identical proteins and their annotated locations for XP_005263013.1

      UniProtKB/TrEMBL
      J3KPQ8
      Conserved Domains (4) summary
      smart00044
      Location:210399
      CYCc; Adenylyl- / guanylyl cyclase, catalytic domain
      pfam00211
      Location:237408
      Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
      pfam07701
      Location:42231
      HNOBA; Heme NO binding associated
      cl01153
      Location:395441
      NapB; Nitrate reductase cytochrome c-type subunit (NapB)
    4. XM_047450148.1XP_047306104.1  guanylate cyclase soluble subunit alpha-1 isoform X3

      UniProtKB/TrEMBL
      J3KPQ8
    5. XM_047450143.1XP_047306099.1  guanylate cyclase soluble subunit alpha-1 isoform X1

      UniProtKB/Swiss-Prot
      D3DP19, D6RDW3, O43843, Q02108, Q8TAH3
      UniProtKB/TrEMBL
      B3KU69
    6. XM_047450146.1XP_047306102.1  guanylate cyclase soluble subunit alpha-1 isoform X1

      UniProtKB/Swiss-Prot
      D3DP19, D6RDW3, O43843, Q02108, Q8TAH3
      UniProtKB/TrEMBL
      B3KU69
    7. XM_047450147.1XP_047306103.1  guanylate cyclase soluble subunit alpha-1 isoform X2

      UniProtKB/TrEMBL
      B3KU69

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      158999647..159069856
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054349844.1XP_054205819.1  guanylate cyclase soluble subunit alpha-1 isoform X3

      UniProtKB/TrEMBL
      J3KPQ8
    2. XM_054349840.1XP_054205815.1  guanylate cyclase soluble subunit alpha-1 isoform X1

      UniProtKB/Swiss-Prot
      D3DP19, D6RDW3, O43843, Q02108, Q8TAH3
      UniProtKB/TrEMBL
      B3KU69
    3. XM_054349843.1XP_054205818.1  guanylate cyclase soluble subunit alpha-1 isoform X3

      UniProtKB/TrEMBL
      J3KPQ8
    4. XM_054349845.1XP_054205820.1  guanylate cyclase soluble subunit alpha-1 isoform X3

      UniProtKB/TrEMBL
      J3KPQ8
    5. XM_054349841.1XP_054205816.1  guanylate cyclase soluble subunit alpha-1 isoform X1

      UniProtKB/Swiss-Prot
      D3DP19, D6RDW3, O43843, Q02108, Q8TAH3
      UniProtKB/TrEMBL
      B3KU69
    6. XM_054349842.1XP_054205817.1  guanylate cyclase soluble subunit alpha-1 isoform X2

      UniProtKB/TrEMBL
      B3KU69

    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.