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

Gene ID: 2982, updated on 20-Dec-2019

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
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
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

Genomic context

See GUCY1A1 in Genome Data Viewer
Location:
4q32.1
Exon count:
13
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (155666710..155737059)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (156587862..156658214)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377505 Neighboring gene uncharacterized LOC105377504 Neighboring gene uncharacterized LOC107984032 Neighboring gene uncharacterized LOC105377506 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

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

Associated conditions

Description Tests
Moyamoya disease 6 with achalasia
MedGen: C3810403 OMIM: 615750 GeneReviews: Not available
Compare labs

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
Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.
NHGRI GWA Catalog
Genome-wide association study in Han Chinese identifies four new susceptibility loci for coronary artery disease.
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 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 
nitric oxide mediated signal transduction TAS
Traceable Author Statement
more info
PubMed 
positive regulation of nitric oxide mediated signal transduction IEA
Inferred from Electronic Annotation
more info
 
regulation of blood pressure IEA
Inferred from Electronic Annotation
more info
 
relaxation of vascular smooth muscle IEA
Inferred from Electronic Annotation
more info
 
response to defense-related host nitric oxide production IEA
Inferred from Electronic Annotation
more info
 
retrograde trans-synaptic signaling by nitric oxide, modulating synaptic transmission IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
GABA-ergic synapse IEA
Inferred from Electronic Annotation
more info
 
glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
 
guanylate cyclase complex, soluble IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
guanylate cyclase soluble subunit alpha-1
Names
GC-S-alpha-1
GCS-alpha-3
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
XP_005263012.1
XP_005263013.1
XP_005263014.1
XP_006714259.1
XP_006714260.1
XP_011530202.1

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.

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

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (A). Variants 1, 2, 3, 4, and 8 all encode the same isoform (A).
    Source sequence(s)
    AC104083, CD671731, Y15723
    Consensus CDS
    CCDS34085.1
    UniProtKB/Swiss-Prot
    Q02108
    Related
    ENSP00000421493.1, ENST00000511108.5
    Conserved Domains (3) summary
    pfam00211
    Location:472643
    Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
    pfam07700
    Location:126235
    HNOB; Haem-NO-binding
    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

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1, and encodes isoform A. Variants 1, 2, 3, 4, and 8 all encode the same isoform (A).
    Source sequence(s)
    AC104083, CD671731, DA793192, Y15723
    Consensus CDS
    CCDS34085.1
    UniProtKB/Swiss-Prot
    Q02108
    Related
    ENSP00000424361.1, ENST00000506455.5
    Conserved Domains (3) summary
    pfam00211
    Location:472643
    Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
    pfam07700
    Location:126235
    HNOB; Haem-NO-binding
    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

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1, and encodes isoform A. Variants 1, 2, 3, 4, and 8 all encode the same isoform (A).
    Source sequence(s)
    AC104083, AK226125, BX649180, CD671731, DA518091
    Consensus CDS
    CCDS34085.1
    UniProtKB/Swiss-Prot
    Q02108
    Related
    ENSP00000296518.7, ENST00000296518.11
    Conserved Domains (3) summary
    pfam00211
    Location:472643
    Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
    pfam07700
    Location:126235
    HNOB; Haem-NO-binding
    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

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR, compared to variant 1, and encodes isoform A. Variants 1, 2, 3, 4, and 8 all encode the same isoform (A).
    Source sequence(s)
    AC104083, CD671731, Y15723
    Consensus CDS
    CCDS34085.1
    UniProtKB/Swiss-Prot
    Q02108
    Related
    ENSP00000426040.1, ENST00000513574.1
    Conserved Domains (3) summary
    pfam00211
    Location:472643
    Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
    pfam07700
    Location:126235
    HNOB; Haem-NO-binding
    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

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (B) is shorter at the N-terminus compared to isoform A.
    Source sequence(s)
    AC104083, AK226125, CD671731, DA518091
    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_001130687.2NP_001124159.1  guanylate cyclase soluble subunit alpha-1 isoform D

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (D) is shorter at the C-terminus compared to isoform A.
    Source sequence(s)
    AC104083, AK309950, DA793192
    Consensus CDS
    CCDS54812.1
    UniProtKB/Swiss-Prot
    Q02108
    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

    Description
    Transcript Variant: This variant (8) differs in the 5' UTR, compared to variant 1, and encodes isoform A. Variants 1, 2, 3, 4, and 8 all encode the same isoform (A).
    Source sequence(s)
    AC104083, AK096588, CD671731, Y15723
    Consensus CDS
    CCDS34085.1
    UniProtKB/Swiss-Prot
    Q02108
    UniProtKB/TrEMBL
    B3KU69
    Related
    ENSP00000412201.2, ENST00000455639.6
    Conserved Domains (3) summary
    pfam00211
    Location:472643
    Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
    pfam07700
    Location:126235
    HNOB; Haem-NO-binding
    pfam07701
    Location:277466
    HNOBA; Heme NO binding associated

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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
    155666710..155737059
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006714196.2XP_006714259.1  guanylate cyclase soluble subunit alpha-1 isoform X1

    See identical proteins and their annotated locations for XP_006714259.1

    UniProtKB/Swiss-Prot
    Q02108
    Conserved Domains (3) summary
    pfam00211
    Location:472643
    Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
    pfam07700
    Location:126235
    HNOB; Haem-NO-binding
    pfam07701
    Location:277466
    HNOBA; Heme NO binding associated
  2. XM_005262957.3XP_005263014.1  guanylate cyclase soluble subunit alpha-1 isoform X2

    See identical proteins and their annotated locations for XP_005263014.1

    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)
  3. XM_005262956.3XP_005263013.1  guanylate cyclase soluble subunit alpha-1 isoform X2

    See identical proteins and their annotated locations for XP_005263013.1

    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_005262955.3XP_005263012.1  guanylate cyclase soluble subunit alpha-1 isoform X1

    See identical proteins and their annotated locations for XP_005263012.1

    UniProtKB/Swiss-Prot
    Q02108
    Conserved Domains (3) summary
    pfam00211
    Location:472643
    Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
    pfam07700
    Location:126235
    HNOB; Haem-NO-binding
    pfam07701
    Location:277466
    HNOBA; Heme NO binding associated
  5. XM_011531900.2XP_011530202.1  guanylate cyclase soluble subunit alpha-1 isoform X2

    See identical proteins and their annotated locations for XP_011530202.1

    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. XM_006714197.2XP_006714260.1  guanylate cyclase soluble subunit alpha-1 isoform X1

    See identical proteins and their annotated locations for XP_006714260.1

    UniProtKB/Swiss-Prot
    Q02108
    Conserved Domains (3) summary
    pfam00211
    Location:472643
    Guanylate_cyc; Adenylate and Guanylate cyclase catalytic domain
    pfam07700
    Location:126235
    HNOB; Haem-NO-binding
    pfam07701
    Location:277466
    HNOBA; Heme NO binding associated

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.
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