Property Summary

NCBI Gene PubMed Count 36
Grant Count 40
R01 Count 39
Funding $2,238,008.62
PubMed Score 86.57
PubTator Score 79.48

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (10)

Disease log2 FC p
astrocytic glioma -1.200 0.011
posterior fossa group B ependymoma -1.800 0.000
oligodendroglioma -1.300 0.008
osteosarcoma 1.572 0.003
glioblastoma -1.500 0.006
medulloblastoma -1.600 0.001
atypical teratoid / rhabdoid tumor -1.800 0.000
primitive neuroectodermal tumor -1.400 0.027
pediatric high grade glioma -1.400 0.001
facioscapulohumeral dystrophy 3.000 0.000

Gene RIF (21)

PMID Text
26358777 Retinal dystrophy-associated missense mutations (L84F, I107T) in GUCA1A with distinct molecular properties result in a similar aberrant regulation of the retinal guanylate cyclase.
26100624 Dimerization domain of RETGC1 is an essential part of GCAP1 and GCAP2 binding interface.
25616661 The GCAP1 and GCAP2 binding site(s) overlaps within the kinase homology and/or dimerization domains of retinal GC1.
24875811 GUCA1A and GUCY2D mutations are both accompanied by similar pattern of generalized cone dysfunction with a tendency to less involvement of the rod photoreceptors and a less severe phenotype in patients with GUCA1A.
24567338 RetGC1 activation by GCAP1 involves establishing a tight complex through the binding patch with an additional activation step involving Met-26, Lys-85, and Trp-94.
24557353 All four mutant GCAP1 family members showed sensitivity or acuity losses relative to normal observers.
24352742 Patients with autosomal dominant cone-rod dystrophy caused by a D100G mutation in GUCA1A exhibit progressive vision loss early within the first decade of life identifiable by distinct ERG.
24024198 we predicted that either haploinsufficiency or dominant-negative effect accompanied by creation of a novel function for the mutant protein is a possible mechanism of the retinal degeneration due to c.250C>T and c.320T>C of the GUCA1A
23428504 the GUCA1A mutation only contributes to a small portion of CORD in people of Chinese descent.
21928830 Stimulation by GCAP increases the maximal velocity (Vmax) for retinal guanylyl cyclase activation up to 100-fold in HEK293 cell membranes.
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AA Sequence

MGNVMEGKSVEELSSTECHQWYKKFMTECPSGQLTLYEFRQFFGLKNLSPSASQYVEQMFETFDFNKDGY      1 - 70
IDFMEYVAALSLVLKGKVEQKLRWYFKLYDVDGNGCIDRDELLTIIQAIRAINPCSDTTMTAEEFTDTVF     71 - 140
SKIDVNGDGELSLEEFIEGVQKDQMLLDTLTRSLDLTRIVRRLQNGEQDEEGADEAAEAAG             141 - 201
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Text Mined References (37)

PMID Year Title
26358777 2015 Two retinal dystrophy-associated missense mutations in GUCA1A with distinct molecular properties result in a similar aberrant regulation of the retinal guanylate cyclase.
26100624 2015 Dimerization Domain of Retinal Membrane Guanylyl Cyclase 1 (RetGC1) Is an Essential Part of Guanylyl Cyclase-activating Protein (GCAP) Binding Interface.
25616661 2015 Evaluating the role of retinal membrane guanylyl cyclase 1 (RetGC1) domains in binding guanylyl cyclase-activating proteins (GCAPs).
24875811 2014 GUCY2D- or GUCA1A-related autosomal dominant cone-rod dystrophy: is there a phenotypic difference?
24567338 2014 Identification of target binding site in photoreceptor guanylyl cyclase-activating protein 1 (GCAP1).
24557353 2014 Visual consequences of molecular changes in the guanylate cyclase-activating protein.
24352742 2014 Disease progression in autosomal dominant cone-rod dystrophy caused by a novel mutation (D100G) in the GUCA1A gene.
24024198 2013 Novel GUCA1A mutations suggesting possible mechanisms of pathogenesis in cone, cone-rod, and macular dystrophy patients.
23428504 2013 Novel GUCA1A mutation identified in a Chinese family with cone-rod dystrophy.
21928830 2011 Retinal degeneration 3 (RD3) protein inhibits catalytic activity of retinal membrane guanylyl cyclase (RetGC) and its stimulation by activating proteins.
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