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Q02846

- GUC2D_HUMAN

UniProt

Q02846 - GUC2D_HUMAN

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Protein

Retinal guanylyl cyclase 1

Gene

GUCY2D

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Probably plays a specific functional role in the rods and/or cones of photoreceptors. It may be the enzyme involved in the resynthesis of cGMP required for recovery of the dark state after phototransduction.

Catalytic activityi

GTP = 3',5'-cyclic GMP + diphosphate.

Enzyme regulationi

Activated by GCAP-1; inhibited by calcium.

GO - Molecular functioni

  1. ATP binding Source: InterPro
  2. GTP binding Source: UniProtKB-KW
  3. guanylate cyclase activity Source: ProtInc
  4. protein kinase activity Source: InterPro
  5. receptor activity Source: ProtInc

GO - Biological processi

  1. intracellular signal transduction Source: InterPro
  2. phototransduction, visible light Source: Reactome
  3. receptor guanylyl cyclase signaling pathway Source: ProtInc
  4. regulation of rhodopsin mediated signaling pathway Source: Reactome
  5. rhodopsin mediated signaling pathway Source: Reactome
  6. visual perception Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Lyase

Keywords - Biological processi

cGMP biosynthesis, Sensory transduction, Vision

Keywords - Ligandi

GTP-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiREACT_163919. Inactivation, recovery and regulation of the phototransduction cascade.

Names & Taxonomyi

Protein namesi
Recommended name:
Retinal guanylyl cyclase 1 (EC:4.6.1.2)
Short name:
RETGC-1
Alternative name(s):
Guanylate cyclase 2D, retinal
Rod outer segment membrane guanylate cyclase
Short name:
ROS-GC
Gene namesi
Name:GUCY2D
Synonyms:CORD6, GUC1A4, GUC2D, RETGC, RETGC1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 17

Organism-specific databases

HGNCiHGNC:4689. GUCY2D.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini52 – 462411ExtracellularSequence AnalysisAdd
BLAST
Transmembranei463 – 48725HelicalSequence AnalysisAdd
BLAST
Topological domaini488 – 1103616CytoplasmicSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. integral component of plasma membrane Source: ProtInc
  2. nuclear outer membrane Source: ProtInc
  3. photoreceptor disc membrane Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Leber congenital amaurosis 1 (LCA1) [MIM:204000]: A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus.5 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti52 – 521A → S in LCA1; unknown pathological significance. 2 Publications
Corresponds to variant rs61749665 [ dbSNP | Ensembl ].
VAR_003435
Natural varianti55 – 551T → M in LCA1. 1 Publication
Corresponds to variant rs201414567 [ dbSNP | Ensembl ].
VAR_067169
Natural varianti103 – 1031E → V in LCA1. 1 Publication
VAR_067170
Natural varianti105 – 1051C → Y in LCA1; does not affect basal activity; reduces GCAP-1 induced activity. 1 Publication
VAR_023770
Natural varianti312 – 3121T → M in LCA1. 1 Publication
VAR_067171
Natural varianti325 – 3251L → P in LCA1; does not affect basal activity; reduces GCAP-1 induced activity. 1 Publication
VAR_023771
Natural varianti325 – 3251L → R Found in a patient with LCA1. 1 Publication
VAR_067172
Natural varianti362 – 3621A → S in LCA1.
VAR_009129
Natural varianti405 – 4062LD → PN in LCA1.
VAR_067173
Natural varianti438 – 4381R → C in LCA1. 1 Publication
VAR_067174
Natural varianti565 – 5651F → S in LCA1; loss of activity.
VAR_009131
Natural varianti573 – 5731I → V in LCA1.
VAR_009130
Natural varianti640 – 6401W → L in LCA1. 1 Publication
VAR_067175
Natural varianti660 – 6601R → Q in LCA1. 1 Publication
VAR_067176
Natural varianti728 – 7281D → H in LCA1. 1 Publication
VAR_067177
Natural varianti734 – 7341I → A in LCA1; requires 2 nucleotide substitutions. 1 Publication
VAR_067178
Natural varianti768 – 7681R → W in LCA1. 2 Publications
VAR_067179
Natural varianti784 – 7841M → R in LCA1. 1 Publication
VAR_067180
Natural varianti795 – 7951R → Q in LCA1. 1 Publication
VAR_067181
Natural varianti858 – 8581P → S in LCA1; severely impairs basal and GCAP-1 induced activity. 1 Publication
VAR_009134
Natural varianti954 – 9541L → P in LCA1; severely impairs basal and GCAP-1 induced activity. 1 Publication
VAR_009135
Natural varianti1007 – 10071S → L in LCA1. 1 Publication
VAR_067182
Natural varianti1027 – 10271I → IGI in LCA1.
VAR_067183
Cone-rod dystrophy 6 (CORD6) [MIM:601777]: An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa.11 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti837 – 8393ERT → DCM in CORD6.
VAR_003438
Natural varianti837 – 8371E → D in CORD6. 1 Publication
Corresponds to variant rs28933695 [ dbSNP | Ensembl ].
VAR_003436
Natural varianti838 – 8381R → C in CORD6. 3 Publications
VAR_003437
Natural varianti838 – 8381R → G in CORD6. 1 Publication
VAR_071605
Natural varianti838 – 8381R → H in CORD6. 4 Publications
VAR_015373
Natural varianti838 – 8381R → P in CORD6. 1 Publication
VAR_071606
Natural varianti849 – 8491T → A in CORD6. 1 Publication
VAR_071607
Natural varianti949 – 9491I → T in CORD6. 1 Publication
VAR_071608

Keywords - Diseasei

Cone-rod dystrophy, Disease mutation, Leber congenital amaurosis

Organism-specific databases

MIMi204000. phenotype.
601777. phenotype.
Orphaneti75377. Central areolar choroidal dystrophy.
1872. Cone rod dystrophy.
65. Leber congenital amaurosis.
PharmGKBiPA187.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 5151Sequence AnalysisAdd
BLAST
Chaini52 – 11031052Retinal guanylyl cyclase 1PRO_0000012381Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi297 – 2971N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi449 – 449InterchainCurated
Disulfide bondi457 – 457InterchainCurated

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiQ02846.
PeptideAtlasiQ02846.
PRIDEiQ02846.

PTM databases

PhosphoSiteiQ02846.

Expressioni

Tissue specificityi

Retina. Localized exclusively in the nuclei and inner segments of the rod and cone photoreceptor cells.

Gene expression databases

BgeeiQ02846.
CleanExiHS_GUCY2D.
GenevestigatoriQ02846.

Interactioni

Protein-protein interaction databases

BioGridi109255. 1 interaction.
IntActiQ02846. 2 interactions.
MINTiMINT-7241905.
STRINGi9606.ENSP00000254854.

Structurei

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1AWLmodel-A/B871-1028[»]
ProteinModelPortaliQ02846.
SMRiQ02846. Positions 557-838, 871-1045.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini525 – 808284Protein kinasePROSITE-ProRule annotationAdd
BLAST
Domaini880 – 1010131Guanylate cyclasePROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Belongs to the adenylyl cyclase class-4/guanylyl cyclase family.PROSITE-ProRule annotation
Contains 1 guanylate cyclase domain.PROSITE-ProRule annotation
Contains 1 protein kinase domain.PROSITE-ProRule annotation

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG0515.
GeneTreeiENSGT00760000118959.
HOGENOMiHOG000293307.
HOVERGENiHBG098487.
InParanoidiQ02846.
KOiK12321.
OMAiAMLELTP.
OrthoDBiEOG7QVM1V.
PhylomeDBiQ02846.
TreeFamiTF106338.

Family and domain databases

Gene3Di3.30.70.1230. 1 hit.
InterProiIPR001054. A/G_cyclase.
IPR018297. A/G_cyclase_CS.
IPR001828. ANF_lig-bd_rcpt.
IPR011645. Haem_no_assoc-bd.
IPR011009. Kinase-like_dom.
IPR029787. Nucleotide_cyclase.
IPR028082. Peripla_BP_I.
IPR000719. Prot_kinase_dom.
IPR001245. Ser-Thr/Tyr_kinase_cat_dom.
[Graphical view]
PfamiPF01094. ANF_receptor. 1 hit.
PF00211. Guanylate_cyc. 1 hit.
PF07701. HNOBA. 1 hit.
PF07714. Pkinase_Tyr. 1 hit.
[Graphical view]
SMARTiSM00044. CYCc. 1 hit.
[Graphical view]
SUPFAMiSSF53822. SSF53822. 1 hit.
SSF55073. SSF55073. 1 hit.
SSF56112. SSF56112. 1 hit.
PROSITEiPS00452. GUANYLATE_CYCLASE_1. 1 hit.
PS50125. GUANYLATE_CYCLASE_2. 1 hit.
PS50011. PROTEIN_KINASE_DOM. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q02846-1 [UniParc]FASTAAdd to Basket

« Hide

        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
Length:1,103
Mass (Da):120,059
Last modified:February 1, 1996 - v2
Checksum:i28631557E7CBDFA4
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti21 – 211W → R.1 Publication
Corresponds to variant rs9905402 [ dbSNP | Ensembl ].
VAR_067168
Natural varianti52 – 521A → S in LCA1; unknown pathological significance. 2 Publications
Corresponds to variant rs61749665 [ dbSNP | Ensembl ].
VAR_003435
Natural varianti55 – 551T → M in LCA1. 1 Publication
Corresponds to variant rs201414567 [ dbSNP | Ensembl ].
VAR_067169
Natural varianti103 – 1031E → V in LCA1. 1 Publication
VAR_067170
Natural varianti105 – 1051C → Y in LCA1; does not affect basal activity; reduces GCAP-1 induced activity. 1 Publication
VAR_023770
Natural varianti312 – 3121T → M in LCA1. 1 Publication
VAR_067171
Natural varianti325 – 3251L → P in LCA1; does not affect basal activity; reduces GCAP-1 induced activity. 1 Publication
VAR_023771
Natural varianti325 – 3251L → R Found in a patient with LCA1. 1 Publication
VAR_067172
Natural varianti328 – 3281A → V.1 Publication
Corresponds to variant rs56280231 [ dbSNP | Ensembl ].
VAR_042229
Natural varianti331 – 3311R → S.
Corresponds to variant rs34596269 [ dbSNP | Ensembl ].
VAR_049254
Natural varianti362 – 3621A → S in LCA1.
VAR_009129
Natural varianti405 – 4062LD → PN in LCA1.
VAR_067173
Natural varianti431 – 4311G → D in a metastatic melanoma sample; somatic mutation. 1 Publication
VAR_042230
Natural varianti438 – 4381R → C in LCA1. 1 Publication
VAR_067174
Natural varianti507 – 5071V → M.1 Publication
VAR_042231
Natural varianti565 – 5651F → S in LCA1; loss of activity.
VAR_009131
Natural varianti573 – 5731I → V in LCA1.
VAR_009130
Natural varianti602 – 6021R → W.
Corresponds to variant rs34331388 [ dbSNP | Ensembl ].
VAR_049255
Natural varianti640 – 6401W → L in LCA1. 1 Publication
VAR_067175
Natural varianti660 – 6601R → Q in LCA1. 1 Publication
VAR_067176
Natural varianti693 – 6931A → E.1 Publication
Corresponds to variant rs35146471 [ dbSNP | Ensembl ].
VAR_042232
Natural varianti701 – 7011P → S Polymorphism that at homozygosity may be associated with Leber congenital amaurosis in some populations. 3 Publications
Corresponds to variant rs34598902 [ dbSNP | Ensembl ].
VAR_009132
Natural varianti722 – 7221R → W.
Corresponds to variant rs34331388 [ dbSNP | Ensembl ].
VAR_049256
Natural varianti728 – 7281D → H in LCA1. 1 Publication
VAR_067177
Natural varianti734 – 7341I → A in LCA1; requires 2 nucleotide substitutions. 1 Publication
VAR_067178
Natural varianti768 – 7681R → W in LCA1. 2 Publications
VAR_067179
Natural varianti782 – 7821L → H Rare polymorphism. 1 Publication
Corresponds to variant rs8069344 [ dbSNP | Ensembl ].
VAR_009133
Natural varianti784 – 7841M → R in LCA1. 1 Publication
VAR_067180
Natural varianti795 – 7951R → Q in LCA1. 1 Publication
VAR_067181
Natural varianti837 – 8393ERT → DCM in CORD6.
VAR_003438
Natural varianti837 – 8371E → D in CORD6. 1 Publication
Corresponds to variant rs28933695 [ dbSNP | Ensembl ].
VAR_003436
Natural varianti838 – 8381R → C in CORD6. 3 Publications
VAR_003437
Natural varianti838 – 8381R → G in CORD6. 1 Publication
VAR_071605
Natural varianti838 – 8381R → H in CORD6. 4 Publications
VAR_015373
Natural varianti838 – 8381R → P in CORD6. 1 Publication
VAR_071606
Natural varianti849 – 8491T → A in CORD6. 1 Publication
VAR_071607
Natural varianti858 – 8581P → S in LCA1; severely impairs basal and GCAP-1 induced activity. 1 Publication
VAR_009134
Natural varianti949 – 9491I → T in CORD6. 1 Publication
VAR_071608
Natural varianti954 – 9541L → P in LCA1; severely impairs basal and GCAP-1 induced activity. 1 Publication
VAR_009135
Natural varianti1007 – 10071S → L in LCA1. 1 Publication
VAR_067182
Natural varianti1027 – 10271I → IGI in LCA1.
VAR_067183

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.
CCDSiCCDS11127.1.
PIRiJH0717.
RefSeqiNP_000171.1. NM_000180.3.
UniGeneiHs.592109.

Genome annotation databases

EnsembliENST00000254854; ENSP00000254854; ENSG00000132518.
GeneIDi3000.
KEGGihsa:3000.
UCSCiuc002gjt.2. human.

Polymorphism databases

DMDMi1345920.

Keywords - Coding sequence diversityi

Polymorphism

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.
UniGenei Hs.592109.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
1AWL model - A/B 871-1028 [» ]
ProteinModelPortali Q02846.
SMRi Q02846. Positions 557-838, 871-1045.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 109255. 1 interaction.
IntActi Q02846. 2 interactions.
MINTi MINT-7241905.
STRINGi 9606.ENSP00000254854.

PTM databases

PhosphoSitei Q02846.

Polymorphism databases

DMDMi 1345920.

Proteomic databases

PaxDbi Q02846.
PeptideAtlasi Q02846.
PRIDEi Q02846.

Protocols and materials databases

DNASUi 3000.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000254854 ; ENSP00000254854 ; ENSG00000132518 .
GeneIDi 3000.
KEGGi hsa:3000.
UCSCi uc002gjt.2. human.

Organism-specific databases

CTDi 3000.
GeneCardsi GC17P007905.
GeneReviewsi GUCY2D.
HGNCi HGNC:4689. GUCY2D.
MIMi 204000. phenotype.
600179. gene.
601777. phenotype.
neXtProti NX_Q02846.
Orphaneti 75377. Central areolar choroidal dystrophy.
1872. Cone rod dystrophy.
65. Leber congenital amaurosis.
PharmGKBi PA187.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0515.
GeneTreei ENSGT00760000118959.
HOGENOMi HOG000293307.
HOVERGENi HBG098487.
InParanoidi Q02846.
KOi K12321.
OMAi AMLELTP.
OrthoDBi EOG7QVM1V.
PhylomeDBi Q02846.
TreeFami TF106338.

Enzyme and pathway databases

Reactomei REACT_163919. Inactivation, recovery and regulation of the phototransduction cascade.

Miscellaneous databases

GenomeRNAii 3000.
NextBioi 11896.
PROi Q02846.
SOURCEi Search...

Gene expression databases

Bgeei Q02846.
CleanExi HS_GUCY2D.
Genevestigatori Q02846.

Family and domain databases

Gene3Di 3.30.70.1230. 1 hit.
InterProi IPR001054. A/G_cyclase.
IPR018297. A/G_cyclase_CS.
IPR001828. ANF_lig-bd_rcpt.
IPR011645. Haem_no_assoc-bd.
IPR011009. Kinase-like_dom.
IPR029787. Nucleotide_cyclase.
IPR028082. Peripla_BP_I.
IPR000719. Prot_kinase_dom.
IPR001245. Ser-Thr/Tyr_kinase_cat_dom.
[Graphical view ]
Pfami PF01094. ANF_receptor. 1 hit.
PF00211. Guanylate_cyc. 1 hit.
PF07701. HNOBA. 1 hit.
PF07714. Pkinase_Tyr. 1 hit.
[Graphical view ]
SMARTi SM00044. CYCc. 1 hit.
[Graphical view ]
SUPFAMi SSF53822. SSF53822. 1 hit.
SSF55073. SSF55073. 1 hit.
SSF56112. SSF56112. 1 hit.
PROSITEi PS00452. GUANYLATE_CYCLASE_1. 1 hit.
PS50125. GUANYLATE_CYCLASE_2. 1 hit.
PS50011. PROTEIN_KINASE_DOM. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Molecular cloning of a retina-specific membrane guanylyl cyclase."
    Shyjan A.W., de Sauvage F.J., Gillett N.A., Goeddel D.V., Lowe D.G.
    Neuron 9:727-737(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Tissue: Retina.
  2. Lowe D.G.
    Submitted (JAN-1995) to the EMBL/GenBank/DDBJ databases
    Cited for: SEQUENCE REVISION.
  3. Perrault I.
    Submitted (DEC-1997) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  4. "Human retinal guanylate cyclase (GUC2D) maps to chromosome 17p13.1."
    Oliveira L., Miniou P., Viegas-Pequignot E., Rozet J.-M., Dollfus H., Pittler S.J.
    Genomics 22:478-481(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1009-1088.
  5. "Catalytic mechanism of the adenylyl and guanylyl cyclases: modeling and mutational analysis."
    Liu Y., Ruoho A.E., Rao V.D., Hurley J.H.
    Proc. Natl. Acad. Sci. U.S.A. 94:13414-13419(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: 3D-STRUCTURE MODELING OF 871-1028.
  6. Cited for: VARIANT LCA1 SER-52.
  7. Cited for: VARIANT CORD6 837-ASP--MET-839.
  8. "Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy."
    Kelsell R.E., Gregory-Evans K., Payne A.M., Perrault I., Kaplan J., Yang R.-B., Garbers D.L., Bird A.C., Moore A.T., Hunt D.M.
    Hum. Mol. Genet. 7:1179-1184(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS CORD6 ASP-837 AND CYS-838.
  9. "Functional consequences of a rod outer segment membrane guanylate cyclase (ROS-GC1) gene mutation linked with Leber's congenital amaurosis."
    Duda T., Venkataraman V., Goraczniak R., Lange C., Koch K.-W., Sharma R.K.
    Biochemistry 38:509-515(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: CHARACTERIZATION OF VARIANT LCA1 SER-565.
  10. Cited for: VARIANTS LCA1 TYR-105; PRO-325 AND SER-858.
  11. "Electroretinographic abnormalities in parents of patients with Leber congenital amaurosis who have heterozygous GUCY2D mutations."
    Koenekoop R.K., Fishman G.A., Iannaccone A., Ezzeldin H., Ciccarelli M.L., Baldi A., Sunness J.S., Lotery A.J., Jablonski M.M., Pittler S.J., Maumenee I.
    Arch. Ophthalmol. 120:1325-1330(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT LCA1 PRO-954.
  12. "Identification of GUCY2D gene mutations in CORD5 families and evidence of incomplete penetrance."
    Udar N., Yelchits S., Chalukya M., Yellore V., Nusinowitz S., Silva-Garcia R., Vrabec T., Hussles Maumenee I., Donoso L., Small K.W.
    Hum. Mutat. 21:170-171(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS CORD6 CYS-838 AND HIS-838, DISCUSSION OF PHENOTYPIC VARIABILITY.
  13. "Novel complex GUCY2D mutation in Japanese family with cone-rod dystrophy."
    Ito S., Nakamura M., Nuno Y., Ohnishi Y., Nishida T., Miyake Y.
    Invest. Ophthalmol. Vis. Sci. 45:1480-1485(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN CORD6.
  14. "Functional analyses of mutant recessive GUCY2D alleles identified in Leber congenital amaurosis patients: protein domain comparisons and dominant negative effects."
    Tucker C.L., Ramamurthy V., Pina A.-L., Loyer M., Dharmaraj S., Li Y., Maumenee I.H., Hurley J.B., Koenekoop R.K.
    Mol. Vis. 10:297-303(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: CHARACTERIZATION OF VARIANTS LCA1 TYR-105; PRO-325; SER-858 AND PRO-954.
  15. Cited for: POSSIBLE INVOLVEMENT OF VARIANT SER-701 IN LEBER CONGENITAL AMAUROSIS.
  16. Cited for: VARIANTS LCA1 TRP-768 AND GLN-795, VARIANTS ARG-325 AND SER-701, POSSIBLE INVOLVEMENT OF VARIANT SER-701 IN LEBER CONGENITAL AMAUROSIS.
  17. "Patterns of somatic mutation in human cancer genomes."
    Greenman C., Stephens P., Smith R., Dalgliesh G.L., Hunter C., Bignell G., Davies H., Teague J., Butler A., Stevens C., Edkins S., O'Meara S., Vastrik I., Schmidt E.E., Avis T., Barthorpe S., Bhamra G., Buck G.
    , Choudhury B., Clements J., Cole J., Dicks E., Forbes S., Gray K., Halliday K., Harrison R., Hills K., Hinton J., Jenkinson A., Jones D., Menzies A., Mironenko T., Perry J., Raine K., Richardson D., Shepherd R., Small A., Tofts C., Varian J., Webb T., West S., Widaa S., Yates A., Cahill D.P., Louis D.N., Goldstraw P., Nicholson A.G., Brasseur F., Looijenga L., Weber B.L., Chiew Y.-E., DeFazio A., Greaves M.F., Green A.R., Campbell P., Birney E., Easton D.F., Chenevix-Trench G., Tan M.-H., Khoo S.K., Teh B.T., Yuen S.T., Leung S.Y., Wooster R., Futreal P.A., Stratton M.R.
    Nature 446:153-158(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS [LARGE SCALE ANALYSIS] VAL-328; ASP-431; MET-507; GLU-693; SER-701 AND HIS-782.
  18. "New mutation, P575L, in the GUCY2D gene in a family with autosomal dominant progressive cone degeneration."
    Small K.W., Silva-Garcia R., Udar N., Nguyen E.V., Heckenlively J.R.
    Arch. Ophthalmol. 126:397-403(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN CORD6.
  19. "Mutation analysis identifies GUCY2D as the major gene responsible for autosomal dominant progressive cone degeneration."
    Kitiratschky V.B., Wilke R., Renner A.B., Kellner U., Vadala M., Birch D.G., Wissinger B., Zrenner E., Kohl S.
    Invest. Ophthalmol. Vis. Sci. 49:5015-5023(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN CORD6, VARIANTS CORD6 CYS-838; HIS-838 AND GLY-838.
  20. "A novel recessive GUCY2D mutation causing cone-rod dystrophy and not Leber's congenital amaurosis."
    Ugur Iseri S.A., Durlu Y.K., Tolun A.
    Eur. J. Hum. Genet. 18:1121-1126(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN CORD6, VARIANT CORD6 THR-949.
  21. "Mutation analysis at codon 838 of the Guanylate Cyclase 2D gene in Spanish families with autosomal dominant cone, cone-rod, and macular dystrophies."
    Garcia-Hoyos M., Auz-Alexandre C.L., Almoguera B., Cantalapiedra D., Riveiro-Alvarez R., Lopez-Martinez M.A., Gimenez A., Blanco-Kelly F., Avila-Fernandez A., Trujillo-Tiebas M.J., Garcia-Sandoval B., Ramos C., Ayuso C.
    Mol. Vis. 17:1103-1109(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CORD6 PRO-838.
  22. "A recurrent mutation in GUCY2D associated with autosomal dominant cone dystrophy in a Chinese family."
    Xiao X., Guo X., Jia X., Li S., Wang P., Zhang Q.
    Mol. Vis. 17:3271-3278(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CORD6 HIS-838.
  23. "Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis."
    Li L., Xiao X., Li S., Jia X., Wang P., Guo X., Jiao X., Zhang Q., Hejtmancik J.F.
    PLoS ONE 6:E19458-E19458(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS LCA1 MET-55; VAL-103; MET-312; 405-PRO-ASN-406; CYS-438; LEU-640; GLN-660; HIS-728; ALA-734; TRP-768; ARG-784 AND LEU-1007; GLY-ILE-1027 INS, VARIANTS ARG-21; SER-52 AND SER-701.
  24. "A novel GUCY2D mutation in a Chinese family with dominant cone dystrophy."
    Zhao X., Ren Y., Zhang X., Chen C., Dong B., Li Y.
    Mol. Vis. 19:1039-1046(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CORD6 ALA-849.
  25. "A detailed phenotypic description of autosomal dominant cone dystrophy due to a de novo mutation in the GUCY2D gene."
    Mukherjee R., Robson A.G., Holder G.E., Stockman A., Egan C.A., Moore A.T., Webster A.R.
    Eye 28:481-487(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CORD6 HIS-838.

Entry informationi

Entry nameiGUC2D_HUMAN
AccessioniPrimary (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: November 26, 2014
This is version 172 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. Human and mouse protein kinases
    Human and mouse protein kinases: classification and index
  7. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3