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Protein

Retinal guanylyl cyclase 1

Gene

GUCY2D

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

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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.

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the ‘Function’ section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

Activated by GCAP-1; inhibited by calcium.

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • ATP binding Source: InterPro
  • GTP binding Source: UniProtKB-KW
  • guanylate cyclase activity Source: GO_Central
  • peptide receptor activity Source: GO_Central
  • protein kinase activity Source: InterPro
  • signaling receptor activity Source: ProtInc

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

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

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

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BRENDAi
4.6.1.2 2681

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-2514859 Inactivation, recovery and regulation of the phototransduction cascade

Protein family/group databases

Transport Classification Database

More...
TCDBi
8.A.85.1.3 the guanylate cyclase (gc) family

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:GUCY2D
Synonyms:CORD6, GUC1A4, GUC2D, RETGC, RETGC1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 17

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000132518.6

Human Gene Nomenclature Database

More...
HGNCi
HGNC:4689 GUCY2D

Online Mendelian Inheritance in Man (OMIM)

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MIMi
600179 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q02846

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini52 – 462ExtracellularSequence analysisAdd BLAST411
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei463 – 487HelicalSequence analysisAdd BLAST25
Topological domaini488 – 1103CytoplasmicSequence analysisAdd BLAST616

Keywords - Cellular componenti

Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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. CACD1 inheritance is autosomal recessive.
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

DisGeNET

More...
DisGeNETi
3000

MalaCards human disease database

More...
MalaCardsi
GUCY2D
MIMi204000 phenotype
215500 phenotype
601777 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000132518

Orphanet; a database dedicated to information on rare diseases and orphan drugs

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Orphaneti
75377 Central areolar choroidal dystrophy
1872 Cone rod dystrophy
65 Leber congenital amaurosis

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA187

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
GUCY2D

Domain mapping of disease mutations (DMDM)

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DMDMi
1345920

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 51Sequence analysisAdd BLAST51
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000001238152 – 1103Retinal guanylyl cyclase 1Add BLAST1052

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi297N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi449InterchainCurated
Disulfide bondi457InterchainCurated

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q02846

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q02846

PeptideAtlas

More...
PeptideAtlasi
Q02846

PRoteomics IDEntifications database

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PRIDEi
Q02846

ProteomicsDB human proteome resource

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ProteomicsDBi
58131

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q02846

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q02846

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000132518 Expressed in 62 organ(s), highest expression level in esophagus mucosa

CleanEx database of gene expression profiles

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CleanExi
HS_GUCY2D

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q02846 HS

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
109255, 2 interactors

Protein interaction database and analysis system

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IntActi
Q02846, 2 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000254854

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q02846

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q02846

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini525 – 808Protein kinasePROSITE-ProRule annotationAdd BLAST284
Domaini880 – 1010Guanylate cyclasePROSITE-ProRule annotationAdd BLAST131

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

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

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG1023 Eukaryota
COG2114 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000161326

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000293307

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG098487

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q02846

KEGG Orthology (KO)

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KOi
K12321

Identification of Orthologs from Complete Genome Data

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OMAi
QVPGFCG

Database of Orthologous Groups

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OrthoDBi
EOG091G00VM

Database for complete collections of gene phylogenies

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PhylomeDBi
Q02846

TreeFam database of animal gene trees

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TreeFami
TF106338

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
3.30.70.1230, 1 hit

Integrated resource of protein families, domains and functional sites

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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

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF01094 ANF_receptor, 1 hit
PF00211 Guanylate_cyc, 1 hit
PF07701 HNOBA, 1 hit
PF07714 Pkinase_Tyr, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00044 CYCc, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF53822 SSF53822, 1 hit
SSF55073 SSF55073, 1 hit
SSF56112 SSF56112, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00452 GUANYLATE_CYCLASE_1, 1 hit
PS50125 GUANYLATE_CYCLASE_2, 1 hit
PS50011 PROTEIN_KINASE_DOM, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequencei

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
M92432 mRNA Translation: AAA60547.1
AJ222657 Genomic DNA Translation: CAA10914.1
L26921 Genomic DNA Translation: AAA60366.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS11127.1

Protein sequence database of the Protein Information Resource

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PIRi
JH0717

NCBI Reference Sequences

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RefSeqi
NP_000171.1, NM_000180.3
XP_011522118.1, XM_011523816.1

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.592109

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000254854; ENSP00000254854; ENSG00000132518

Database of genes from NCBI RefSeq genomes

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GeneIDi
3000

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:3000

UCSC genome browser

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UCSCi
uc002gjt.3 human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>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
CCDSiCCDS11127.1
PIRiJH0717
RefSeqiNP_000171.1, NM_000180.3
XP_011522118.1, XM_011523816.1
UniGeneiHs.592109

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1AWLmodel-A/B871-1028[»]
ProteinModelPortaliQ02846
SMRiQ02846
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109255, 2 interactors
IntActiQ02846, 2 interactors
STRINGi9606.ENSP00000254854

Protein family/group databases

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

PTM databases

iPTMnetiQ02846
PhosphoSitePlusiQ02846

Polymorphism and mutation databases

BioMutaiGUCY2D
DMDMi1345920

Proteomic databases

MaxQBiQ02846
PaxDbiQ02846
PeptideAtlasiQ02846
PRIDEiQ02846
ProteomicsDBi58131

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
3000
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
3000
DisGeNETi3000
EuPathDBiHostDB:ENSG00000132518.6

GeneCards: human genes, protein and diseases

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GeneCardsi
GUCY2D
HGNCiHGNC:4689 GUCY2D
MalaCardsiGUCY2D
MIMi204000 phenotype
215500 phenotype
600179 gene
601777 phenotype
neXtProtiNX_Q02846
OpenTargetsiENSG00000132518
Orphaneti75377 Central areolar choroidal dystrophy
1872 Cone rod dystrophy
65 Leber congenital amaurosis
PharmGKBiPA187

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1023 Eukaryota
COG2114 LUCA
GeneTreeiENSGT00940000161326
HOGENOMiHOG000293307
HOVERGENiHBG098487
InParanoidiQ02846
KOiK12321
OMAiQVPGFCG
OrthoDBiEOG091G00VM
PhylomeDBiQ02846
TreeFamiTF106338

Enzyme and pathway databases

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

Miscellaneous databases

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
3000

Protein Ontology

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PROi
PR:Q02846

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000132518 Expressed in 62 organ(s), highest expression level in esophagus mucosa
CleanExiHS_GUCY2D
GenevisibleiQ02846 HS

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

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiGUC2D_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q02846
Secondary accession number(s): Q6LEA7
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 1, 1993
Last sequence update: February 1, 1996
Last modified: December 5, 2018
This is version 204 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

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