Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Q02846

- GUC2D_HUMAN

UniProt

Q02846 - GUC2D_HUMAN

Protein

Retinal guanylyl cyclase 1

Gene

GUCY2D

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 170 (01 Oct 2014)
      Sequence version 2 (01 Feb 1996)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    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

    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

    GO - Cellular componenti

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

    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.3 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. 2 Publications
    VAR_003437
    Natural varianti838 – 8381R → H in CORD6. 1 Publication
    VAR_015373

    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

    Secondary structure

    1
    1103
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Beta strandi882 – 8854
    Helixi888 – 8925
    Beta strandi896 – 8983
    Helixi899 – 9024
    Helixi904 – 91310
    Turni914 – 9174
    Beta strandi918 – 9225
    Beta strandi934 – 9363
    Helixi944 – 9474
    Helixi949 – 96618
    Beta strandi991 – 9933
    Beta strandi998 – 10003
    Helixi1001 – 10044
    Helixi1005 – 10073
    Turni1008 – 10114
    Beta strandi1015 – 10173
    Helixi1022 – 10254

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    1AWLmodel-A/B871-1028[»]
    ProteinModelPortaliQ02846.
    SMRiQ02846. Positions 542-838, 871-1045.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

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

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei463 – 48725HelicalSequence AnalysisAdd
    BLAST

    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.
    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.
    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

    MTACARRAGG LPDPGLCGPA WWAPSLPRLP RALPRLPLLL LLLLLQPPAL     50
    SAVFTVGVLG PWACDPIFSR ARPDLAARLA AARLNRDPGL AGGPRFEVAL 100
    LPEPCRTPGS LGAVSSALAR VSGLVGPVNP AACRPAELLA EEAGIALVPW 150
    GCPWTQAEGT TAPAVTPAAD ALYALLRAFG WARVALVTAP QDLWVEAGRS 200
    LSTALRARGL PVASVTSMEP LDLSGAREAL RKVRDGPRVT AVIMVMHSVL 250
    LGGEEQRYLL EAAEELGLTD GSLVFLPFDT IHYALSPGPE ALAALANSSQ 300
    LRRAHDAVLT LTRHCPSEGS VLDSLRRAQE RRELPSDLNL QQVSPLFGTI 350
    YDAVFLLARG VAEARAAAGG RWVSGAAVAR HIRDAQVPGF CGDLGGDEEP 400
    PFVLLDTDAA GDRLFATYML DPARGSFLSA GTRMHFPRGG SAPGPDPSCW 450
    FDPNNICGGG LEPGLVFLGF LLVVGMGLAG AFLAHYVRHR LLHMQMVSGP 500
    NKIILTVDDI TFLHPHGGTS RKVAQGSRSS LGARSMSDIR SGPSQHLDSP 550
    NIGVYEGDRV WLKKFPGDQH IAIRPATKTA FSKLQELRHE NVALYLGLFL 600
    ARGAEGPAAL WEGNLAVVSE HCTRGSLQDL LAQREIKLDW MFKSSLLLDL 650
    IKGIRYLHHR GVAHGRLKSR NCIVDGRFVL KITDHGHGRL LEAQKVLPEP 700
    PRAEDQLWTA PELLRDPALE RRGTLAGDVF SLAIIMQEVV CRSAPYAMLE 750
    LTPEEVVQRV RSPPPLCRPL VSMDQAPVEC ILLMKQCWAE QPELRPSMDH 800
    TFDLFKNINK GRKTNIIDSM LRMLEQYSSN LEDLIRERTE ELELEKQKTD 850
    RLLTQMLPPS VAEALKTGTP VEPEYFEQVT LYFSDIVGFT TISAMSEPIE 900
    VVDLLNDLYT LFDAIIGSHD VYKVETIGDA YMVASGLPQR NGQRHAAEIA 950
    NMSLDILSAV GTFRMRHMPE VPVRIRIGLH SGPCVAGVVG LTMPRYCLFG 1000
    DTVNTASRME STGLPYRIHV NLSTVGILRA LDSGYQVELR GRTELKGKGA 1050
    EDTFWLVGRR GFNKPIPKPP DLQPGSSNHG ISLQEIPPER RRKLEKARPG 1100
    QFS 1103
    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. 2 Publications
    VAR_003437
    Natural varianti838 – 8381R → H in CORD6. 1 Publication
    VAR_015373
    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

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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:
    EMBL
    GenBank
    DDBJ
    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:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    1AWL model - A/B 871-1028 [» ]
    ProteinModelPortali Q02846.
    SMRi Q02846. Positions 542-838, 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.
    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.
    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

    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. "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.
    14. Cited for: POSSIBLE INVOLVEMENT OF VARIANT SER-701 IN LEBER CONGENITAL AMAUROSIS.
    15. 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.
    16. "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.
    17. "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.

    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: October 1, 2014
    This is version 170 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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3