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UniProtKB - Q02846 (GUC2D_HUMAN)

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Protein

Retinal guanylyl cyclase 1

Gene

GUCY2D

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

  • ATP binding Source: InterPro
  • GTP binding Source: UniProtKB-KW
  • guanylate cyclase activity Source: GO_Central
  • protein kinase activity Source: InterPro
  • signaling receptor activity Source: ProtInc
View the complete GO annotation on QuickGO ...

GO - Biological processi

  • cGMP biosynthetic process Source: GO_Central
  • intracellular signal transduction Source: InterPro
  • receptor guanylyl cyclase signaling pathway Source: ProtInc
  • regulation of rhodopsin mediated signaling pathway Source: Reactome
  • visual perception Source: ProtInc
View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionLyase
Biological processcGMP biosynthesis, Sensory transduction, Vision
LigandGTP-binding, Nucleotide-binding

Enzyme and pathway databases

BRENDAi4.6.1.2 2681
ReactomeiR-HSA-2514859 Inactivation, recovery and regulation of the phototransduction cascade

Protein family/group databases

TCDBi8.A.85.1.3 the guanylate cyclase (gc) family

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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000132518.6
HGNCiHGNC:4689 GUCY2D
MIMi600179 gene
neXtProtiNX_Q02846

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini52 – 462ExtracellularSequence analysisAdd BLAST411
Transmembranei463 – 487HelicalSequence analysisAdd BLAST25
Topological domaini488 – 1103CytoplasmicSequence analysisAdd BLAST616

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Leber congenital amaurosis 1 (LCA1)7 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:204000
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00343552A → S in LCA1; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs61749665EnsemblClinVar.1
Natural variantiVAR_06716955T → M in LCA1. 1 PublicationCorresponds to variant dbSNP:rs201414567EnsemblClinVar.1
Natural variantiVAR_067170103E → V in LCA1. 1 Publication1
Natural variantiVAR_023770105C → Y in LCA1; does not affect basal activity; reduces GCAP-1 induced activity. 2 PublicationsCorresponds to variant dbSNP:rs61749669EnsemblClinVar.1
Natural variantiVAR_067171312T → M in LCA1. 1 PublicationCorresponds to variant dbSNP:rs61749673EnsemblClinVar.1
Natural variantiVAR_023771325L → P in LCA1; does not affect basal activity; reduces GCAP-1 induced activity. 2 PublicationsCorresponds to variant dbSNP:rs61749675EnsemblClinVar.1
Natural variantiVAR_009129362A → S in LCA1. Corresponds to variant dbSNP:rs61749677EnsemblClinVar.1
Natural variantiVAR_067173405 – 406LD → PN in LCA1. 2
Natural variantiVAR_067174438R → C in LCA1. 1 PublicationCorresponds to variant dbSNP:rs565948960Ensembl.1
Natural variantiVAR_009131565F → S in LCA1; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs61749755EnsemblClinVar.1
Natural variantiVAR_009130573I → V in LCA1. Corresponds to variant dbSNP:rs61749756EnsemblClinVar.1
Natural variantiVAR_067175640W → L in LCA1. 1 Publication1
Natural variantiVAR_067176660R → Q in LCA1. 1 PublicationCorresponds to variant dbSNP:rs61750162EnsemblClinVar.1
Natural variantiVAR_067177728D → H in LCA1. 1 Publication1
Natural variantiVAR_067178734I → A in LCA1; requires 2 nucleotide substitutions. 1 Publication1
Natural variantiVAR_067179768R → W in LCA1. 2 PublicationsCorresponds to variant dbSNP:rs61750168EnsemblClinVar.1
Natural variantiVAR_067180784M → R in LCA1. 1 Publication1
Natural variantiVAR_067181795R → Q in LCA1. 1 PublicationCorresponds to variant dbSNP:rs61750171Ensembl.1
Natural variantiVAR_009134858P → S in LCA1; severely impairs basal and GCAP-1 induced activity. 2 PublicationsCorresponds to variant dbSNP:rs61750176EnsemblClinVar.1
Natural variantiVAR_009135954L → P in LCA1; severely impairs basal and GCAP-1 induced activity. 2 PublicationsCorresponds to variant dbSNP:rs61750182EnsemblClinVar.1
Natural variantiVAR_0671821007S → L in LCA1. 1 Publication1
Natural variantiVAR_0671831027I → IGI in LCA1. 1
Cone-rod dystrophy 6 (CORD6)11 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors.
See also OMIM:601777
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_003438837 – 839ERT → DCM in CORD6. 1 Publication3
Natural variantiVAR_003436837E → D in CORD6. 1 PublicationCorresponds to variant dbSNP:rs28933695EnsemblClinVar.1
Natural variantiVAR_003437838R → C in CORD6. 3 PublicationsCorresponds to variant dbSNP:rs61750172EnsemblClinVar.1
Natural variantiVAR_071605838R → G in CORD6. 1 Publication1
Natural variantiVAR_015373838R → H in CORD6. 4 PublicationsCorresponds to variant dbSNP:rs61750173EnsemblClinVar.1
Natural variantiVAR_071606838R → P in CORD6. 1 Publication1
Natural variantiVAR_071607849T → A in CORD6. 1 Publication1
Natural variantiVAR_071608949I → T in CORD6. 1 PublicationCorresponds to variant dbSNP:rs267606857EnsemblClinVar.1
Choroidal dystrophy, central areolar, 1 (CACD1)1 Publication
The disease may be caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of central areolar choroidal dystrophy, a retinal disease that affects the macula and results in a well-demarcated circumscribed area of atrophy of the pigment epithelium and choriocapillaris.
See also OMIM:215500
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_080484933V → A in CACD1; unknown pathological significance. 1 Publication1

Keywords - Diseasei

Cone-rod dystrophy, Disease mutation, Leber congenital amaurosis

Organism-specific databases

DisGeNETi3000
GeneReviewsiGUCY2D
MalaCardsiGUCY2D
MIMi204000 phenotype
215500 phenotype
601777 phenotype
OpenTargetsiENSG00000132518
Orphaneti75377 Central areolar choroidal dystrophy
1872 Cone rod dystrophy
65 Leber congenital amaurosis
PharmGKBiPA187

Polymorphism and mutation databases

BioMutaiGUCY2D
DMDMi1345920

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 51Sequence analysisAdd BLAST51
ChainiPRO_000001238152 – 1103Retinal guanylyl cyclase 1Add BLAST1052

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi297N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi449InterchainCurated
Disulfide bondi457InterchainCurated

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

MaxQBiQ02846
PaxDbiQ02846
PeptideAtlasiQ02846
PRIDEiQ02846
ProteomicsDBi58131

PTM databases

iPTMnetiQ02846
PhosphoSitePlusiQ02846

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000132518
CleanExiHS_GUCY2D
GenevisibleiQ02846 HS

Interactioni

Protein-protein interaction databases

BioGridi109255, 2 interactors
IntActiQ02846, 2 interactors
STRINGi9606.ENSP00000254854

Structurei

3D structure databases

ProteinModelPortaliQ02846
SMRiQ02846
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini525 – 808Protein kinasePROSITE-ProRule annotationAdd BLAST284
Domaini880 – 1010Guanylate cyclasePROSITE-ProRule annotationAdd BLAST131

Sequence similaritiesi

Belongs to the adenylyl cyclase class-4/guanylyl cyclase family.PROSITE-ProRule annotation

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG1023 Eukaryota
COG2114 LUCA
GeneTreeiENSGT00760000118959
HOGENOMiHOG000293307
HOVERGENiHBG098487
InParanoidiQ02846
KOiK12321
OMAiAMLELTP
OrthoDBiEOG091G00VM
PhylomeDBiQ02846
TreeFamiTF106338

Family and domain databases

Gene3Di3.30.70.1230, 1 hit
InterProiView 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
PfamiView protein in Pfam
PF01094 ANF_receptor, 1 hit
PF00211 Guanylate_cyc, 1 hit
PF07701 HNOBA, 1 hit
PF07714 Pkinase_Tyr, 1 hit
SMARTiView protein in SMART
SM00044 CYCc, 1 hit
SUPFAMiSSF53822 SSF53822, 1 hit
SSF55073 SSF55073, 1 hit
SSF56112 SSF56112, 1 hit
PROSITEiView protein in PROSITE
PS00452 GUANYLATE_CYCLASE_1, 1 hit
PS50125 GUANYLATE_CYCLASE_2, 1 hit
PS50011 PROTEIN_KINASE_DOM, 1 hit

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)DescriptionActionsGraphical viewLength
Natural variantiVAR_06716821W → R1 PublicationCorresponds to variant dbSNP:rs9905402EnsemblClinVar.1
Natural variantiVAR_00343552A → S in LCA1; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs61749665EnsemblClinVar.1
Natural variantiVAR_06716955T → M in LCA1. 1 PublicationCorresponds to variant dbSNP:rs201414567EnsemblClinVar.1
Natural variantiVAR_067170103E → V in LCA1. 1 Publication1
Natural variantiVAR_023770105C → Y in LCA1; does not affect basal activity; reduces GCAP-1 induced activity. 2 PublicationsCorresponds to variant dbSNP:rs61749669EnsemblClinVar.1
Natural variantiVAR_067171312T → M in LCA1. 1 PublicationCorresponds to variant dbSNP:rs61749673EnsemblClinVar.1
Natural variantiVAR_023771325L → P in LCA1; does not affect basal activity; reduces GCAP-1 induced activity. 2 PublicationsCorresponds to variant dbSNP:rs61749675EnsemblClinVar.1
Natural variantiVAR_067172325L → R Found in a patient with LCA1. 1 Publication1
Natural variantiVAR_042229328A → V1 PublicationCorresponds to variant dbSNP:rs56280231Ensembl.1
Natural variantiVAR_049254331R → S. Corresponds to variant dbSNP:rs34596269Ensembl.1
Natural variantiVAR_009129362A → S in LCA1. Corresponds to variant dbSNP:rs61749677EnsemblClinVar.1
Natural variantiVAR_067173405 – 406LD → PN in LCA1. 2
Natural variantiVAR_042230431G → D in a metastatic melanoma sample; somatic mutation. 1 Publication1
Natural variantiVAR_067174438R → C in LCA1. 1 PublicationCorresponds to variant dbSNP:rs565948960Ensembl.1
Natural variantiVAR_042231507V → M1 PublicationCorresponds to variant dbSNP:rs746002871Ensembl.1
Natural variantiVAR_009131565F → S in LCA1; loss of activity. 1 PublicationCorresponds to variant dbSNP:rs61749755EnsemblClinVar.1
Natural variantiVAR_009130573I → V in LCA1. Corresponds to variant dbSNP:rs61749756EnsemblClinVar.1
Natural variantiVAR_049255602R → W. Corresponds to variant dbSNP:rs770740012Ensembl.1
Natural variantiVAR_067175640W → L in LCA1. 1 Publication1
Natural variantiVAR_067176660R → Q in LCA1. 1 PublicationCorresponds to variant dbSNP:rs61750162EnsemblClinVar.1
Natural variantiVAR_042232693A → E1 PublicationCorresponds to variant dbSNP:rs35146471Ensembl.1
Natural variantiVAR_009132701P → S Polymorphism that at homozygosity may be associated with Leber congenital amaurosis in some populations. 3 PublicationsCorresponds to variant dbSNP:rs34598902EnsemblClinVar.1
Natural variantiVAR_049256722R → W. Corresponds to variant dbSNP:rs34331388Ensembl.1
Natural variantiVAR_067177728D → H in LCA1. 1 Publication1
Natural variantiVAR_067178734I → A in LCA1; requires 2 nucleotide substitutions. 1 Publication1
Natural variantiVAR_067179768R → W in LCA1. 2 PublicationsCorresponds to variant dbSNP:rs61750168EnsemblClinVar.1
Natural variantiVAR_009133782L → H Rare polymorphism. 1 PublicationCorresponds to variant dbSNP:rs8069344EnsemblClinVar.1
Natural variantiVAR_067180784M → R in LCA1. 1 Publication1
Natural variantiVAR_067181795R → Q in LCA1. 1 PublicationCorresponds to variant dbSNP:rs61750171Ensembl.1
Natural variantiVAR_003438837 – 839ERT → DCM in CORD6. 1 Publication3
Natural variantiVAR_003436837E → D in CORD6. 1 PublicationCorresponds to variant dbSNP:rs28933695EnsemblClinVar.1
Natural variantiVAR_003437838R → C in CORD6. 3 PublicationsCorresponds to variant dbSNP:rs61750172EnsemblClinVar.1
Natural variantiVAR_071605838R → G in CORD6. 1 Publication1
Natural variantiVAR_015373838R → H in CORD6. 4 PublicationsCorresponds to variant dbSNP:rs61750173EnsemblClinVar.1
Natural variantiVAR_071606838R → P in CORD6. 1 Publication1
Natural variantiVAR_071607849T → A in CORD6. 1 Publication1
Natural variantiVAR_009134858P → S in LCA1; severely impairs basal and GCAP-1 induced activity. 2 PublicationsCorresponds to variant dbSNP:rs61750176EnsemblClinVar.1
Natural variantiVAR_080484933V → A in CACD1; unknown pathological significance. 1 Publication1
Natural variantiVAR_071608949I → T in CORD6. 1 PublicationCorresponds to variant dbSNP:rs267606857EnsemblClinVar.1
Natural variantiVAR_009135954L → P in LCA1; severely impairs basal and GCAP-1 induced activity. 2 PublicationsCorresponds to variant dbSNP:rs61750182EnsemblClinVar.1
Natural variantiVAR_0671821007S → L in LCA1. 1 Publication1
Natural variantiVAR_0671831027I → 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
CCDSiCCDS11127.1
PIRiJH0717
RefSeqiNP_000171.1, NM_000180.3
XP_011522118.1, XM_011523816.1
UniGeneiHs.592109

Genome annotation databases

EnsembliENST00000254854; ENSP00000254854; ENSG00000132518
GeneIDi3000
KEGGihsa:3000
UCSCiuc002gjt.3 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiGUC2D_HUMAN
AccessioniPrimary (citable) accession number: Q02846
Secondary accession number(s): Q6LEA7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 1, 1993
Last sequence update: February 1, 1996
Last modified: July 18, 2018
This is version 201 of the entry and version 2 of the sequence. See 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

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