ENSG00000048545


Homo sapiens

Features
Gene ID: ENSG00000048545
  
Biological name :GUCA1A
  
Synonyms : guanylate cyclase activator 1A / GUCA1A / P43080
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 6
Strand: 1
Band: p21.1
Gene start: 42155406
Gene end: 42180056
  
Corresponding Affymetrix probe sets: 1255_g_at (Human Genome U133 Plus 2.0 Array)   206062_at (Human Genome U133 Plus 2.0 Array)   231700_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000437476
Ensembl peptide - ENSP00000362049
Ensembl peptide - ENSP00000377784
Ensembl peptide - ENSP00000388438
Ensembl peptide - ENSP00000053469
NCBI entrez gene - 2978     See in Manteia.
OMIM - 600364
RefSeq - XM_011514539
RefSeq - NM_000409
RefSeq - NM_001319061
RefSeq - NM_001319062
RefSeq - XM_006715073
RefSeq - XM_011514537
RefSeq Peptide - NP_001305990
RefSeq Peptide - NP_001305991
RefSeq Peptide - NP_000400
swissprot - A6PVH5
swissprot - P43080
swissprot - A0A0A0MTF5
Ensembl - ENSG00000048545
  
Related genetic diseases (OMIM): 602093 - Cone dystrophy-3, 602093
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 guca1eENSDARG00000101567Danio rerio
 si:ch211-103a14.5ENSDARG00000100747Danio rerio
 GUCA1AENSGALG00000001431Gallus gallus
 Guca1aENSMUSG00000023982Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
GUCA1C / O95843 / guanylate cyclase activator 1CENSG0000013847246
GUCA1B / Q9UMX6 / guanylate cyclase activator 1BENSG0000011259943
NCALD / P61601 / neurocalcin deltaENSG0000010449036
HPCAL1 / P37235 / hippocalcin like 1ENSG0000011575636
HPCA / P84074 / hippocalcinENSG0000012190535
VSNL1 / P62760 / visinin like 1ENSG0000016303234
NCS1 / P62166 / neuronal calcium sensor 1ENSG0000010713033
HPCAL4 / Q9UM19 / hippocalcin like 4ENSG0000011698333
RCVRN / P35243 / recoverinENSG0000010904731
KCNIP2 / Q9NS61 / potassium voltage-gated channel interacting protein 2ENSG0000012004928
KCNIP1 / Q9NZI2 / potassium voltage-gated channel interacting protein 1ENSG0000018213228
KCNIP4 / Q6PIL6 / potassium voltage-gated channel interacting protein 4ENSG0000018577425
KCNIP3 / Q9Y2W7 / potassium voltage-gated channel interacting protein 3ENSG0000011504125


Protein motifs (from Interpro)
Interpro ID Name
 IPR002048  EF-hand domain
 IPR011992  EF-hand domain pair
 IPR018247  EF-Hand 1, calcium-binding site
 IPR033022  Guanylyl cyclase-activating protein 1


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007165 signal transduction NAS
 biological_processGO:0007601 visual perception IEA
 biological_processGO:0007602 phototransduction IEA
 biological_processGO:0022400 regulation of rhodopsin mediated signaling pathway TAS
 biological_processGO:0030828 obsolete positive regulation of cGMP biosynthetic process IEA
 biological_processGO:0031282 regulation of guanylate cyclase activity IEA
 biological_processGO:0031284 positive regulation of guanylate cyclase activity IEA
 biological_processGO:0050896 response to stimulus IEA
 biological_processGO:0071277 cellular response to calcium ion ISS
 cellular_componentGO:0001750 photoreceptor outer segment IEA
 cellular_componentGO:0001917 photoreceptor inner segment IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0097381 photoreceptor disc membrane TAS
 molecular_functionGO:0005509 calcium ion binding IEA
 molecular_functionGO:0008048 calcium sensitive guanylate cyclase activator activity IEA
 molecular_functionGO:0030249 guanylate cyclase regulator activity ISS
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
Inactivation, recovery and regulation of the phototransduction cascade


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000505 Impaired vision 
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 HP:0000512 Abnormal electroretinogram "Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography." [HPO:curators]
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 HP:0000529 Progressive visual loss 
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 HP:0000548 Cone-rod dystrophy 
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 HP:0000551 Abnormal color vision 
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 HP:0000613 Photophobia "Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light." [HPO:curators]
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 HP:0000662 Night blindness 
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 HP:0007401 Primary noninflammatory macular atrophy 
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 HP:0007663 Decreased central vision 
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 HP:0007703 Abnormal retinal pigmentation 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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