GUCY1A1
Guanylate cyclase soluble subunit alpha-1
Also known as: GC-SA3, GCYA1_HUMAN, GUC1A3, GUCY1A3
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q02108
- Gene
- GUCY1A1
- Ensembl
- ENSG00000164116
- Chromosome
- 4
- Canonical length
- 690 aa
- Protein class
- Disease related genes, Enzymes, FDA approved drug targets, Human disease related genes, Metabolic proteins, Plasma proteins, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
690 residues, UniProt reviewed canonical sequence.
>Q02108|GUCY1A1
1 MFCTKLKDLK ITGECPFSLL APGQVPNESS EEAAGSSESC KATVPICQDI PEKNIQESLP
61 QRKTSRSRVY LHTLAESICK LIFPEFERLN VALQRTLAKH KIKESRKSLE REDFEKTIAE
121 QAVAAGVPVE VIKESLGEEV FKICYEEDEN ILGVVGGTLK DFLNSFSTLL KQSSHCQEAG
181 KRGRLEDASI LCLDKEDDFL HVYYFFPKRT TSLILPGIIK AAAHVLYETE VEVSLMPPCF
241 HNDCSEFVNQ PYLLYSVHMK STKPSLSPSK PQSSLVIPTS LFCKTFPFHF MFDKDMTILQ
301 FGNGIRRLMN RRDFQGKPNF EEYFEILTPK INQTFSGIMT MLNMQFVVRV RRWDNSVKKS
361 SRVMDLKGQM IYIVESSAIL FLGSPCVDRL EDFTGRGLYL SDIPIHNALR DVVLIGEQAR
421 AQDGLKKRLG KLKATLEQAH QALEEEKKKT VDLLCSIFPC EVAQQLWQGQ VVQAKKFSNV
481 TMLFSDIVGF TAICSQCSPL QVITMLNALY TRFDQQCGEL DVYKVETIGD AYCVAGGLHK
541 ESDTHAVQIA LMALKMMELS DEVMSPHGEP IKMRIGLHSG SVFAGVVGVK MPRYCLFGNN
601 VTLANKFESC SVPRKINVSP TTYRLLKDCP GFVFTPRSRE ELPPNFPSEI PGICHFLDAY
661 QQGTNSKPCF QKKDVEDGNA NFLGKASGIDLocalizationUniProt · AlphaFold · HPA
Whether an antibody against GUCY1A1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.36
- Highest tissue expression
- 32 nTPM
Expression across tissuesHPA
Tissue
- heart muscle: 32 nTPM
- parathyroid gland: 30 nTPM
- smooth muscle: 27 nTPM
- colon: 25 nTPM
- placenta: 24 nTPM
- prostate: 24 nTPM
Single-cell type
- prostatic glandular cells: 550 nCPM
- hematopoietic stem cells: 539 nCPM
- vascular smooth muscle cells: 367 nCPM
- pericytes: 288 nCPM
- retinal bipolar cells: 281 nCPM
- thymocytes: 219 nCPM
Immune cell
- plasmacytoid DC: 12 nTPM
- non-classical monocyte: 10 nTPM
- NK-cell: 8.3 nTPM
- myeloid DC: 2.5 nTPM
- intermediate monocyte: 2.3 nTPM
- total PBMC: 1 nTPM
Brain region
- basal ganglia: 67 nTPM
- cerebral cortex: 46 nTPM
- thalamus: 39 nTPM
- midbrain: 38 nTPM
- amygdala: 38 nTPM
- hippocampal formation: 36 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about GUCY1A1.
Disease | AllUniProt
Conditions GUCY1A1 is implicated in, by any mechanism.
- Moyamoya disease 6 with or without achalasia (MYMY6) MIM:615750
Disease | GeneticClinVar
15 pathogenic / likely-pathogenic of 185 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Moyamoya disease with early-onset achalasia
- Moyamoya disease 1
- Myocardial infarction, susceptibility to, 1
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.84
- gnomAD pLI
- 0
- DepMap mean gene effect
- 0.1
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- blood circulation
- cGMP biosynthetic process
- cGMP-mediated signaling
- nitric oxide mediated signal transduction
- nitric oxide-cGMP-mediated signaling
- positive regulation of nitric oxide mediated signal transduction
- regulation of blood pressure
- relaxation of vascular associated smooth muscle
- response to oxygen levels
- retrograde trans-synaptic signaling by nitric oxide, modulating synaptic transmission
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Adenylyl cyclase class-3/4/guanylyl cyclase
- Haem NO binding associated
- Adenylyl cyclase class-4/guanylyl cyclase, conserved site
- NO signalling/Golgi transport ligand-binding domain superfamily
- Nucleotide cyclase
- H-NOX domain superfamily
- Haem NO binding associated domain superfamily
- Adenylate and Guanylate cyclase catalytic domain
- Heme NO binding associated
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads GUCY1A1 as an antibody target. Whether an autoantibody or antibody against GUCY1A1 could matter depends on whether native GUCY1A1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
GUCY1A1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label GUCY1A1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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