UniProtKB - Q02846 (GUC2D_HUMAN)
Retinal guanylyl cyclase 1
GUCY2D
Functioni
Catalyzes the synthesis of cyclic GMP (cGMP) in rods and cones of photoreceptors. Plays an essential role in phototransduction, by mediating cGMP replenishment (PubMed:21928830, PubMed:30319355, PubMed:26100624, PubMed:9600905, PubMed:15123990).
May also participate in the trafficking of membrane-asociated proteins to the photoreceptor outer segment membrane (By similarity).
By similarity5 PublicationsMiscellaneous
Catalytic activityi
- EC:4.6.1.26 Publications
Activity regulationi
Kineticsi
- KM=1.31 mM for GTP (in absence of RD3)1 Publication
- KM=1.57 mM for GTP (in presence of 30 nM of RD3)1 Publication
- KM=0.94 mM for GTP (in presence of 60 nM of RD3)1 Publication
- Vmax=3.5 nmol/min/mg enzyme (in absence of RD3)1 Publication
- Vmax=1.4 nmol/min/mg enzyme (in presence of 30 nM of RD3)1 Publication
- Vmax=0.7 nmol/min/mg enzyme (in presence of 60 nM of RD3)1 Publication
GO - Molecular functioni
- ATP binding Source: InterPro
- GTP binding Source: UniProtKB-KW
- guanylate cyclase activity Source: UniProtKB
- peptide receptor activity Source: GO_Central
- protein-containing complex binding Source: Ensembl
- protein homodimerization activity Source: UniProtKB
- protein kinase activity Source: InterPro
- signaling receptor activity Source: ProtInc
GO - Biological processi
- cGMP biosynthetic process Source: GO_Central
- cGMP-mediated signaling Source: Ensembl
- receptor guanylyl cyclase signaling pathway Source: GO_Central
- regulation of rhodopsin mediated signaling pathway Source: Reactome
- signal transduction Source: GO_Central
- visual perception Source: ProtInc
Keywordsi
Molecular function | Lyase |
Biological process | cGMP biosynthesis, Sensory transduction, Vision |
Ligand | GTP-binding, Nucleotide-binding |
Enzyme and pathway databases
BRENDAi | 4.6.1.2, 2681 |
PathwayCommonsi | Q02846 |
Reactomei | R-HSA-2514859, Inactivation, recovery and regulation of the phototransduction cascade |
SignaLinki | Q02846 |
Protein family/group databases
TCDBi | 8.A.85.1.3, the guanylate cyclase (gc) family |
Names & Taxonomyi
Protein namesi | Recommended name: Retinal guanylyl cyclase 1 (EC:4.6.1.26 Publications)Short name: RETGC-1 Alternative name(s): CG-E1 Publication Guanylate cyclase 2D, retinal Rod outer segment membrane guanylate cyclase Short name: ROS-GC |
Gene namesi | Name:GUCY2D Synonyms:CORD6, GUC1A4, GUC2D1 Publication, RETGC, RETGC1 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:4689, GUCY2D |
MIMi | 600179, gene |
neXtProti | NX_Q02846 |
VEuPathDBi | HostDB:ENSG00000132518 |
Subcellular locationi
Endoplasmic reticulum
- Endoplasmic reticulum membrane 1 Publication; Single-pass type I membrane protein Sequence analysis
Other locations
- Photoreceptor outer segment membrane 1 Publication; Single-pass type I membrane protein Sequence analysis
Endoplasmic reticulum
- endoplasmic reticulum membrane Source: UniProtKB
Nucleus
- nuclear outer membrane Source: ProtInc
Plasma Membrane
- integral component of plasma membrane Source: ProtInc
- photoreceptor outer segment membrane Source: Ensembl
- plasma membrane Source: UniProtKB
Other locations
- photoreceptor disc membrane Source: Reactome
- photoreceptor outer segment Source: UniProtKB
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 52 – 462 | ExtracellularSequence analysisAdd BLAST | 411 | |
Transmembranei | 463 – 487 | HelicalSequence analysisAdd BLAST | 25 | |
Topological domaini | 488 – 1103 | CytoplasmicSequence analysisAdd BLAST | 616 |
Keywords - Cellular componenti
Cell projection, Endoplasmic reticulum, MembranePathology & Biotechi
Involvement in diseasei
Leber congenital amaurosis 1 (LCA1)9 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_003435 | 52 | A → S in LCA1; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs61749665EnsemblClinVar. | 1 | |
Natural variantiVAR_067169 | 55 | T → M in LCA1. 1 PublicationCorresponds to variant dbSNP:rs201414567EnsemblClinVar. | 1 | |
Natural variantiVAR_067170 | 103 | E → V in LCA1. 1 Publication | 1 | |
Natural variantiVAR_023770 | 105 | C → Y in LCA1; does not affect basal guanylate cyclase activity; reduces GUCA1A-induced guanylate cyclase activity. 2 PublicationsCorresponds to variant dbSNP:rs61749669EnsemblClinVar. | 1 | |
Natural variantiVAR_067171 | 312 | T → M in LCA1. 1 PublicationCorresponds to variant dbSNP:rs61749673EnsemblClinVar. | 1 | |
Natural variantiVAR_023771 | 325 | L → P in LCA1; does not affect basal guanylate cyclase activity; reduces GUCA1A-induced guanylate cyclase activity. 2 PublicationsCorresponds to variant dbSNP:rs61749675EnsemblClinVar. | 1 | |
Natural variantiVAR_009129 | 362 | A → S in LCA1. Corresponds to variant dbSNP:rs61749677EnsemblClinVar. | 1 | |
Natural variantiVAR_067173 | 405 – 406 | LD → PN in LCA1. | 2 | |
Natural variantiVAR_067174 | 438 | R → C in LCA1. 1 PublicationCorresponds to variant dbSNP:rs565948960EnsemblClinVar. | 1 | |
Natural variantiVAR_009131 | 565 | F → S in LCA1; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs61749755EnsemblClinVar. | 1 | |
Natural variantiVAR_009130 | 573 | I → V in LCA1. Corresponds to variant dbSNP:rs61749756EnsemblClinVar. | 1 | |
Natural variantiVAR_067175 | 640 | W → L in LCA1. 1 Publication | 1 | |
Natural variantiVAR_067176 | 660 | R → Q in LCA1. 1 PublicationCorresponds to variant dbSNP:rs61750162EnsemblClinVar. | 1 | |
Natural variantiVAR_082624 | 710 | A → V in LCA1; loss of basal and GUCA1A-induced guanylate cyclase activity; does not affect endoplasmic reticulum membrane localization. 2 PublicationsCorresponds to variant dbSNP:rs781725943EnsemblClinVar. | 1 | |
Natural variantiVAR_067177 | 728 | D → H in LCA1. 1 Publication | 1 | |
Natural variantiVAR_067178 | 734 | I → A in LCA1; requires 2 nucleotide substitutions. 1 Publication | 1 | |
Natural variantiVAR_067179 | 768 | R → W in LCA1 and CSNB1I. 3 PublicationsCorresponds to variant dbSNP:rs61750168EnsemblClinVar. | 1 | |
Natural variantiVAR_067180 | 784 | M → R in LCA1. 1 PublicationCorresponds to variant dbSNP:rs375010731Ensembl. | 1 | |
Natural variantiVAR_067181 | 795 | R → Q in LCA1. 1 PublicationCorresponds to variant dbSNP:rs61750171EnsemblClinVar. | 1 | |
Natural variantiVAR_009134 | 858 | P → S in LCA1; severely impairs basal and GUCA1A-induced guanylate cyclase activity. 2 PublicationsCorresponds to variant dbSNP:rs61750176EnsemblClinVar. | 1 | |
Natural variantiVAR_082628 | 902 | V → L in LCA1; increases basal and GUCA1A-induced guanylate cyclase activity; inhibition by RD3 is less effective; does not affect endoplasmic reticulum membrane localization. 1 PublicationCorresponds to variant dbSNP:rs1598150793EnsemblClinVar. | 1 | |
Natural variantiVAR_009135 | 954 | L → P in LCA1; severely impairs basal and GUCA1A induced guanylate cyclase. 2 PublicationsCorresponds to variant dbSNP:rs61750182EnsemblClinVar. | 1 | |
Natural variantiVAR_067182 | 1007 | S → L in LCA1. 1 Publication | 1 | |
Natural variantiVAR_067183 | 1027 | I → IGI in LCA1. | 1 |
Cone-rod dystrophy 6 (CORD6)14 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_003438 | 837 – 839 | ERT → DCM in CORD6. 1 Publication | 3 | |
Natural variantiVAR_003436 | 837 | E → D in CORD6. 1 PublicationCorresponds to variant dbSNP:rs28933695EnsemblClinVar. | 1 | |
Natural variantiVAR_003437 | 838 | R → C in CORD6. 4 PublicationsCorresponds to variant dbSNP:rs61750172EnsemblClinVar. | 1 | |
Natural variantiVAR_071605 | 838 | R → G in CORD6. 1 Publication | 1 | |
Natural variantiVAR_015373 | 838 | R → H in CORD6. 4 PublicationsCorresponds to variant dbSNP:rs61750173EnsemblClinVar. | 1 | |
Natural variantiVAR_071606 | 838 | R → P in CORD6. 1 PublicationCorresponds to variant dbSNP:rs61750173EnsemblClinVar. | 1 | |
Natural variantiVAR_082625 | 841 | E → K in CORD6; decreases basal and GUCA1A-induced guanylate cyclase activity; inhibition by RD3 is less effective; does not affect endoplasmic reticulum membrane localization. 2 PublicationsCorresponds to variant dbSNP:rs1341592819EnsemblClinVar. | 1 | |
Natural variantiVAR_082626 | 846 | K → N in CORD6; decreases basal and GUCA1A-induced guanylate cyclase activity; inhibition by RD3 is less effective; does not affect endoplasmic reticulum membrane localization. 2 PublicationsCorresponds to variant dbSNP:rs1598150539EnsemblClinVar. | 1 | |
Natural variantiVAR_071607 | 849 | T → A in CORD6. 1 Publication | 1 | |
Natural variantiVAR_082627 | 873 | P → R in CORD6; loss basal and GUCA1A-induced guanylate cyclase activity; does not affect endoplasmic reticulum membrane localization. 1 PublicationCorresponds to variant dbSNP:rs1567961680EnsemblClinVar. | 1 | |
Natural variantiVAR_071608 | 949 | I → T in CORD6. 1 PublicationCorresponds to variant dbSNP:rs267606857EnsemblClinVar. | 1 |
Choroidal dystrophy, central areolar, 1 (CACD1)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_080484 | 933 | V → A in CACD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1567961904EnsemblClinVar. | 1 |
Night blindness, congenital stationary, 1I (CSNB1I)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_067179 | 768 | R → W in LCA1 and CSNB1I. 3 PublicationsCorresponds to variant dbSNP:rs61750168EnsemblClinVar. | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 822 | R → P: Fails to become activated by GUCA1A and by GUCA1B. Does not affect the binding to RP3. 1 Publication | 1 | |
Mutagenesisi | 823 | M → R: Fails to become activated by GUCA1A and by GUCA1B. Does not affect the binding to RP3. 1 Publication | 1 | |
Mutagenesisi | 925 | E → K: Changes the substrate specificity from GTP to ATP. 1 Publication | 1 | |
Mutagenesisi | 997 | C → D: Changes the substrate specificity from GTP to ATP. 1 Publication | 1 |
Keywords - Diseasei
Cone-rod dystrophy, Congenital stationary night blindness, Disease variant, Leber congenital amaurosisOrganism-specific databases
DisGeNETi | 3000 |
MalaCardsi | GUCY2D |
MIMi | 204000, phenotype 215500, phenotype 300071, phenotype 601777, phenotype 618555, phenotype |
OpenTargetsi | ENSG00000132518 |
Orphaneti | 75377, Central areolar choroidal dystrophy 1872, Cone rod dystrophy 65, Leber congenital amaurosis |
PharmGKBi | PA187 |
Miscellaneous databases
Pharosi | Q02846, Tbio |
Genetic variation databases
BioMutai | GUCY2D |
DMDMi | 1345920 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 51 | By similarityAdd BLAST | 51 | |
ChainiPRO_0000012381 | 52 – 1103 | Retinal guanylyl cyclase 1Add BLAST | 1052 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 297 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 449 | InterchainCurated | ||
Disulfide bondi | 457 | InterchainCurated |
Keywords - PTMi
Disulfide bond, GlycoproteinProteomic databases
jPOSTi | Q02846 |
MassIVEi | Q02846 |
MaxQBi | Q02846 |
PaxDbi | Q02846 |
PeptideAtlasi | Q02846 |
PRIDEi | Q02846 |
ProteomicsDBi | 58131 |
PTM databases
GlyGeni | Q02846, 1 site |
iPTMneti | Q02846 |
PhosphoSitePlusi | Q02846 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000132518, Expressed in esophagus and 84 other tissues |
Genevisiblei | Q02846, HS |
Organism-specific databases
HPAi | ENSG00000132518, Tissue enriched (retina) |
Interactioni
Subunit structurei
Homodimer; requires homodimerization for guanylyl cyclase activity (By similarity).
Interacts with RD3; promotes the exit of GUCY2D from the endoplasmic reticulum and its trafficking to the photoreceptor outer segments (PubMed:21928830, PubMed:21078983). Interaction with RD3 negatively regulates guanylate cyclase activity (PubMed:21928830).
By similarity2 PublicationsBinary interactionsi
Q02846
With | #Exp. | IntAct |
---|---|---|
RD3 [Q7Z3Z2] | 3 | EBI-1756902,EBI-10257497 |
GO - Molecular functioni
- protein homodimerization activity Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 109255, 11 interactors |
IntActi | Q02846, 3 interactors |
STRINGi | 9606.ENSP00000254854 |
Miscellaneous databases
RNActi | Q02846, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 525 – 808 | Protein kinasePROSITE-ProRule annotationAdd BLAST | 284 | |
Domaini | 880 – 1010 | Guanylate cyclasePROSITE-ProRule annotationAdd BLAST | 131 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1065 – 1103 | DisorderedSequence analysisAdd BLAST | 39 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 1085 – 1103 | Basic and acidic residuesSequence analysisAdd BLAST | 19 |
Sequence similaritiesi
Keywords - Domaini
Signal, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG1023, Eukaryota |
GeneTreei | ENSGT00940000161326 |
HOGENOMi | CLU_001072_1_0_1 |
InParanoidi | Q02846 |
OMAi | VSEHCTR |
OrthoDBi | 229634at2759 |
PhylomeDBi | Q02846 |
TreeFami | TF106338 |
Family and domain databases
CDDi | cd07302, CHD, 1 hit |
Gene3Di | 3.30.70.1230, 1 hit |
InterProi | View protein in InterPro IPR001054, A/G_cyclase IPR018297, A/G_cyclase_CS IPR001828, ANF_lig-bd_rcpt IPR011645, HNOB_dom_associated IPR011009, Kinase-like_dom_sf IPR029787, Nucleotide_cyclase IPR028082, Peripla_BP_I IPR000719, Prot_kinase_dom IPR001245, Ser-Thr/Tyr_kinase_cat_dom |
Pfami | View protein in Pfam PF01094, ANF_receptor, 1 hit PF00211, Guanylate_cyc, 1 hit PF07701, HNOBA, 1 hit PF07714, PK_Tyr_Ser-Thr, 1 hit |
SMARTi | View protein in SMART SM00044, CYCc, 1 hit |
SUPFAMi | SSF53822, SSF53822, 1 hit SSF55073, SSF55073, 1 hit SSF56112, SSF56112, 1 hit |
PROSITEi | View protein in PROSITE PS00452, GUANYLATE_CYCLASE_1, 1 hit PS50125, GUANYLATE_CYCLASE_2, 1 hit PS50011, PROTEIN_KINASE_DOM, 1 hit |
i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
10 20 30 40 50
MTACARRAGG LPDPGLCGPA WWAPSLPRLP RALPRLPLLL LLLLLQPPAL
60 70 80 90 100
SAVFTVGVLG PWACDPIFSR ARPDLAARLA AARLNRDPGL AGGPRFEVAL
110 120 130 140 150
LPEPCRTPGS LGAVSSALAR VSGLVGPVNP AACRPAELLA EEAGIALVPW
160 170 180 190 200
GCPWTQAEGT TAPAVTPAAD ALYALLRAFG WARVALVTAP QDLWVEAGRS
210 220 230 240 250
LSTALRARGL PVASVTSMEP LDLSGAREAL RKVRDGPRVT AVIMVMHSVL
260 270 280 290 300
LGGEEQRYLL EAAEELGLTD GSLVFLPFDT IHYALSPGPE ALAALANSSQ
310 320 330 340 350
LRRAHDAVLT LTRHCPSEGS VLDSLRRAQE RRELPSDLNL QQVSPLFGTI
360 370 380 390 400
YDAVFLLARG VAEARAAAGG RWVSGAAVAR HIRDAQVPGF CGDLGGDEEP
410 420 430 440 450
PFVLLDTDAA GDRLFATYML DPARGSFLSA GTRMHFPRGG SAPGPDPSCW
460 470 480 490 500
FDPNNICGGG LEPGLVFLGF LLVVGMGLAG AFLAHYVRHR LLHMQMVSGP
510 520 530 540 550
NKIILTVDDI TFLHPHGGTS RKVAQGSRSS LGARSMSDIR SGPSQHLDSP
560 570 580 590 600
NIGVYEGDRV WLKKFPGDQH IAIRPATKTA FSKLQELRHE NVALYLGLFL
610 620 630 640 650
ARGAEGPAAL WEGNLAVVSE HCTRGSLQDL LAQREIKLDW MFKSSLLLDL
660 670 680 690 700
IKGIRYLHHR GVAHGRLKSR NCIVDGRFVL KITDHGHGRL LEAQKVLPEP
710 720 730 740 750
PRAEDQLWTA PELLRDPALE RRGTLAGDVF SLAIIMQEVV CRSAPYAMLE
760 770 780 790 800
LTPEEVVQRV RSPPPLCRPL VSMDQAPVEC ILLMKQCWAE QPELRPSMDH
810 820 830 840 850
TFDLFKNINK GRKTNIIDSM LRMLEQYSSN LEDLIRERTE ELELEKQKTD
860 870 880 890 900
RLLTQMLPPS VAEALKTGTP VEPEYFEQVT LYFSDIVGFT TISAMSEPIE
910 920 930 940 950
VVDLLNDLYT LFDAIIGSHD VYKVETIGDA YMVASGLPQR NGQRHAAEIA
960 970 980 990 1000
NMSLDILSAV GTFRMRHMPE VPVRIRIGLH SGPCVAGVVG LTMPRYCLFG
1010 1020 1030 1040 1050
DTVNTASRME STGLPYRIHV NLSTVGILRA LDSGYQVELR GRTELKGKGA
1060 1070 1080 1090 1100
EDTFWLVGRR GFNKPIPKPP DLQPGSSNHG ISLQEIPPER RRKLEKARPG
QFS
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_067168 | 21 | W → R1 PublicationCorresponds to variant dbSNP:rs9905402EnsemblClinVar. | 1 | |
Natural variantiVAR_003435 | 52 | A → S in LCA1; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs61749665EnsemblClinVar. | 1 | |
Natural variantiVAR_067169 | 55 | T → M in LCA1. 1 PublicationCorresponds to variant dbSNP:rs201414567EnsemblClinVar. | 1 | |
Natural variantiVAR_067170 | 103 | E → V in LCA1. 1 Publication | 1 | |
Natural variantiVAR_023770 | 105 | C → Y in LCA1; does not affect basal guanylate cyclase activity; reduces GUCA1A-induced guanylate cyclase activity. 2 PublicationsCorresponds to variant dbSNP:rs61749669EnsemblClinVar. | 1 | |
Natural variantiVAR_067171 | 312 | T → M in LCA1. 1 PublicationCorresponds to variant dbSNP:rs61749673EnsemblClinVar. | 1 | |
Natural variantiVAR_023771 | 325 | L → P in LCA1; does not affect basal guanylate cyclase activity; reduces GUCA1A-induced guanylate cyclase activity. 2 PublicationsCorresponds to variant dbSNP:rs61749675EnsemblClinVar. | 1 | |
Natural variantiVAR_067172 | 325 | L → R Found in a patient with LCA1. 1 Publication | 1 | |
Natural variantiVAR_042229 | 328 | A → V1 PublicationCorresponds to variant dbSNP:rs56280231Ensembl. | 1 | |
Natural variantiVAR_049254 | 331 | R → S. Corresponds to variant dbSNP:rs34596269EnsemblClinVar. | 1 | |
Natural variantiVAR_009129 | 362 | A → S in LCA1. Corresponds to variant dbSNP:rs61749677EnsemblClinVar. | 1 | |
Natural variantiVAR_067173 | 405 – 406 | LD → PN in LCA1. | 2 | |
Natural variantiVAR_042230 | 431 | G → D in a metastatic melanoma sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs1451501407Ensembl. | 1 | |
Natural variantiVAR_067174 | 438 | R → C in LCA1. 1 PublicationCorresponds to variant dbSNP:rs565948960EnsemblClinVar. | 1 | |
Natural variantiVAR_042231 | 507 | V → M1 PublicationCorresponds to variant dbSNP:rs746002871EnsemblClinVar. | 1 | |
Natural variantiVAR_009131 | 565 | F → S in LCA1; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs61749755EnsemblClinVar. | 1 | |
Natural variantiVAR_009130 | 573 | I → V in LCA1. Corresponds to variant dbSNP:rs61749756EnsemblClinVar. | 1 | |
Natural variantiVAR_049255 | 602 | R → W. Corresponds to variant dbSNP:rs770740012EnsemblClinVar. | 1 | |
Natural variantiVAR_067175 | 640 | W → L in LCA1. 1 Publication | 1 | |
Natural variantiVAR_067176 | 660 | R → Q in LCA1. 1 PublicationCorresponds to variant dbSNP:rs61750162EnsemblClinVar. | 1 | |
Natural variantiVAR_042232 | 693 | A → E1 PublicationCorresponds to variant dbSNP:rs35146471Ensembl. | 1 | |
Natural variantiVAR_009132 | 701 | P → S At homozygosity may be associated with Leber congenital amaurosis in some populations. 3 PublicationsCorresponds to variant dbSNP:rs34598902EnsemblClinVar. | 1 | |
Natural variantiVAR_082624 | 710 | A → V in LCA1; loss of basal and GUCA1A-induced guanylate cyclase activity; does not affect endoplasmic reticulum membrane localization. 2 PublicationsCorresponds to variant dbSNP:rs781725943EnsemblClinVar. | 1 | |
Natural variantiVAR_049256 | 722 | R → W. Corresponds to variant dbSNP:rs34331388EnsemblClinVar. | 1 | |
Natural variantiVAR_067177 | 728 | D → H in LCA1. 1 Publication | 1 | |
Natural variantiVAR_067178 | 734 | I → A in LCA1; requires 2 nucleotide substitutions. 1 Publication | 1 | |
Natural variantiVAR_067179 | 768 | R → W in LCA1 and CSNB1I. 3 PublicationsCorresponds to variant dbSNP:rs61750168EnsemblClinVar. | 1 | |
Natural variantiVAR_009133 | 782 | L → H1 PublicationCorresponds to variant dbSNP:rs8069344EnsemblClinVar. | 1 | |
Natural variantiVAR_067180 | 784 | M → R in LCA1. 1 PublicationCorresponds to variant dbSNP:rs375010731Ensembl. | 1 | |
Natural variantiVAR_067181 | 795 | R → Q in LCA1. 1 PublicationCorresponds to variant dbSNP:rs61750171EnsemblClinVar. | 1 | |
Natural variantiVAR_003438 | 837 – 839 | ERT → DCM in CORD6. 1 Publication | 3 | |
Natural variantiVAR_003436 | 837 | E → D in CORD6. 1 PublicationCorresponds to variant dbSNP:rs28933695EnsemblClinVar. | 1 | |
Natural variantiVAR_003437 | 838 | R → C in CORD6. 4 PublicationsCorresponds to variant dbSNP:rs61750172EnsemblClinVar. | 1 | |
Natural variantiVAR_071605 | 838 | R → G in CORD6. 1 Publication | 1 | |
Natural variantiVAR_015373 | 838 | R → H in CORD6. 4 PublicationsCorresponds to variant dbSNP:rs61750173EnsemblClinVar. | 1 | |
Natural variantiVAR_071606 | 838 | R → P in CORD6. 1 PublicationCorresponds to variant dbSNP:rs61750173EnsemblClinVar. | 1 | |
Natural variantiVAR_082625 | 841 | E → K in CORD6; decreases basal and GUCA1A-induced guanylate cyclase activity; inhibition by RD3 is less effective; does not affect endoplasmic reticulum membrane localization. 2 PublicationsCorresponds to variant dbSNP:rs1341592819EnsemblClinVar. | 1 | |
Natural variantiVAR_082626 | 846 | K → N in CORD6; decreases basal and GUCA1A-induced guanylate cyclase activity; inhibition by RD3 is less effective; does not affect endoplasmic reticulum membrane localization. 2 PublicationsCorresponds to variant dbSNP:rs1598150539EnsemblClinVar. | 1 | |
Natural variantiVAR_071607 | 849 | T → A in CORD6. 1 Publication | 1 | |
Natural variantiVAR_009134 | 858 | P → S in LCA1; severely impairs basal and GUCA1A-induced guanylate cyclase activity. 2 PublicationsCorresponds to variant dbSNP:rs61750176EnsemblClinVar. | 1 | |
Natural variantiVAR_082627 | 873 | P → R in CORD6; loss basal and GUCA1A-induced guanylate cyclase activity; does not affect endoplasmic reticulum membrane localization. 1 PublicationCorresponds to variant dbSNP:rs1567961680EnsemblClinVar. | 1 | |
Natural variantiVAR_082628 | 902 | V → L in LCA1; increases basal and GUCA1A-induced guanylate cyclase activity; inhibition by RD3 is less effective; does not affect endoplasmic reticulum membrane localization. 1 PublicationCorresponds to variant dbSNP:rs1598150793EnsemblClinVar. | 1 | |
Natural variantiVAR_080484 | 933 | V → A in CACD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1567961904EnsemblClinVar. | 1 | |
Natural variantiVAR_071608 | 949 | I → T in CORD6. 1 PublicationCorresponds to variant dbSNP:rs267606857EnsemblClinVar. | 1 | |
Natural variantiVAR_009135 | 954 | L → P in LCA1; severely impairs basal and GUCA1A induced guanylate cyclase. 2 PublicationsCorresponds to variant dbSNP:rs61750182EnsemblClinVar. | 1 | |
Natural variantiVAR_067182 | 1007 | S → L in LCA1. 1 Publication | 1 | |
Natural variantiVAR_067183 | 1027 | I → IGI in LCA1. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | M92432 mRNA Translation: AAA60547.1 AJ222657 Genomic DNA Translation: CAA10914.1 L26921 Genomic DNA Translation: AAA60366.1 |
CCDSi | CCDS11127.1 |
PIRi | JH0717 |
RefSeqi | NP_000171.1, NM_000180.3 XP_011522118.1, XM_011523816.1 |
Genome annotation databases
Ensembli | ENST00000254854; ENSP00000254854; ENSG00000132518 |
GeneIDi | 3000 |
KEGGi | hsa:3000 |
MANE-Selecti | ENST00000254854.5; ENSP00000254854.4; NM_000180.4; NP_000171.1 |
UCSCi | uc002gjt.3, human |
Similar proteinsi
Cross-referencesi
Web resourcesi
Mutations of the GUCY2D gene Retina International's Scientific Newsletter |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | M92432 mRNA Translation: AAA60547.1 AJ222657 Genomic DNA Translation: CAA10914.1 L26921 Genomic DNA Translation: AAA60366.1 |
CCDSi | CCDS11127.1 |
PIRi | JH0717 |
RefSeqi | NP_000171.1, NM_000180.3 XP_011522118.1, XM_011523816.1 |
3D structure databases
SMRi | Q02846 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 109255, 11 interactors |
IntActi | Q02846, 3 interactors |
STRINGi | 9606.ENSP00000254854 |
Protein family/group databases
TCDBi | 8.A.85.1.3, the guanylate cyclase (gc) family |
PTM databases
GlyGeni | Q02846, 1 site |
iPTMneti | Q02846 |
PhosphoSitePlusi | Q02846 |
Genetic variation databases
BioMutai | GUCY2D |
DMDMi | 1345920 |
Proteomic databases
jPOSTi | Q02846 |
MassIVEi | Q02846 |
MaxQBi | Q02846 |
PaxDbi | Q02846 |
PeptideAtlasi | Q02846 |
PRIDEi | Q02846 |
ProteomicsDBi | 58131 |
Protocols and materials databases
Antibodypediai | 12365, 261 antibodies from 29 providers |
DNASUi | 3000 |
Genome annotation databases
Ensembli | ENST00000254854; ENSP00000254854; ENSG00000132518 |
GeneIDi | 3000 |
KEGGi | hsa:3000 |
MANE-Selecti | ENST00000254854.5; ENSP00000254854.4; NM_000180.4; NP_000171.1 |
UCSCi | uc002gjt.3, human |
Organism-specific databases
CTDi | 3000 |
DisGeNETi | 3000 |
GeneCardsi | GUCY2D |
HGNCi | HGNC:4689, GUCY2D |
HPAi | ENSG00000132518, Tissue enriched (retina) |
MalaCardsi | GUCY2D |
MIMi | 204000, phenotype 215500, phenotype 300071, phenotype 600179, gene 601777, phenotype 618555, phenotype |
neXtProti | NX_Q02846 |
OpenTargetsi | ENSG00000132518 |
Orphaneti | 75377, Central areolar choroidal dystrophy 1872, Cone rod dystrophy 65, Leber congenital amaurosis |
PharmGKBi | PA187 |
VEuPathDBi | HostDB:ENSG00000132518 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1023, Eukaryota |
GeneTreei | ENSGT00940000161326 |
HOGENOMi | CLU_001072_1_0_1 |
InParanoidi | Q02846 |
OMAi | VSEHCTR |
OrthoDBi | 229634at2759 |
PhylomeDBi | Q02846 |
TreeFami | TF106338 |
Enzyme and pathway databases
BRENDAi | 4.6.1.2, 2681 |
PathwayCommonsi | Q02846 |
Reactomei | R-HSA-2514859, Inactivation, recovery and regulation of the phototransduction cascade |
SignaLinki | Q02846 |
Miscellaneous databases
BioGRID-ORCSi | 3000, 7 hits in 1067 CRISPR screens |
GenomeRNAii | 3000 |
Pharosi | Q02846, Tbio |
PROi | PR:Q02846 |
RNActi | Q02846, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000132518, Expressed in esophagus and 84 other tissues |
Genevisiblei | Q02846, HS |
Family and domain databases
CDDi | cd07302, CHD, 1 hit |
Gene3Di | 3.30.70.1230, 1 hit |
InterProi | View protein in InterPro IPR001054, A/G_cyclase IPR018297, A/G_cyclase_CS IPR001828, ANF_lig-bd_rcpt IPR011645, HNOB_dom_associated IPR011009, Kinase-like_dom_sf IPR029787, Nucleotide_cyclase IPR028082, Peripla_BP_I IPR000719, Prot_kinase_dom IPR001245, Ser-Thr/Tyr_kinase_cat_dom |
Pfami | View protein in Pfam PF01094, ANF_receptor, 1 hit PF00211, Guanylate_cyc, 1 hit PF07701, HNOBA, 1 hit PF07714, PK_Tyr_Ser-Thr, 1 hit |
SMARTi | View protein in SMART SM00044, CYCc, 1 hit |
SUPFAMi | SSF53822, SSF53822, 1 hit SSF55073, SSF55073, 1 hit SSF56112, SSF56112, 1 hit |
PROSITEi | View protein in PROSITE PS00452, GUANYLATE_CYCLASE_1, 1 hit PS50125, GUANYLATE_CYCLASE_2, 1 hit PS50011, PROTEIN_KINASE_DOM, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | GUC2D_HUMAN | |
Accessioni | Q02846Primary (citable) accession number: Q02846 Secondary accession number(s): Q6LEA7 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | July 1, 1993 |
Last sequence update: | February 1, 1996 | |
Last modified: | February 23, 2022 | |
This is version 222 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human and mouse protein kinases
Human and mouse protein kinases: classification and index - Human chromosome 17
Human chromosome 17: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families