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Entry version 186 (08 May 2019)
Sequence version 3 (23 Jan 2007)
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Protein

Guanylyl cyclase-activating protein 1

Gene

GUCA1A

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

Stimulates retinal guanylyl cyclase when free calcium ions concentration is low and inhibits guanylyl cyclase when free calcium ions concentration is elevated (PubMed:19459154). This Ca2+-sensitive regulation of retinal guanylyl cyclase is a key event in recovery of the dark state of rod photoreceptors following light exposure.Curated1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section specifies the position(s) of the calcium-binding region(s) within the protein. One common calcium-binding motif is the EF-hand, but other calcium-binding motifs also exist.<p><a href='/help/ca_bind' target='_top'>More...</a></p>Calcium bindingi64 – 751PROSITE-ProRule annotationAdd BLAST12
Calcium bindingi100 – 1112PROSITE-ProRule annotationAdd BLAST12
Calcium bindingi144 – 1553PROSITE-ProRule annotationAdd BLAST12

<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

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

Biological processSensory transduction, Vision
LigandCalcium, Metal-binding

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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

<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:
Guanylyl cyclase-activating protein 1
Short name:
GCAP 1
Alternative name(s):
Guanylate cyclase activator 1A
<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:GUCA1A
Synonyms:C6orf131, GCAP, GCAP1, GUCA1
<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 6

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:4678 GUCA1A

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
600364 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P43080

<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

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

Cone dystrophy 3 (COD3)8 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant cone dystrophy. Cone dystrophies are retinal dystrophies characterized by progressive degeneration of the cone photoreceptors with preservation of rod function, as indicated by electroretinogram. However, some rod involvement may be present in some cone dystrophies, particularly at late stage. Affected individuals suffer from photophobia, loss of visual acuity, color vision and central visual field. Another sign is the absence of macular lesions for many years. Cone dystrophies are distinguished from the cone-rod dystrophies in which some loss of peripheral vision also occurs.
Related information in OMIM
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_01064850P → L in COD3; some subjects may present a moderately severe cone-rod dystrophy; causes a decrease in the number of bound calcium ions from 3 to 2, without changing the activity profile. 2 PublicationsCorresponds to variant dbSNP:rs104893968EnsemblClinVar.1
Natural variantiVAR_06080289E → K in COD3; exhibits an about 6-fold shift of ionic calcium concentration at which the guanylate cyclase activity is halfmaximal. 1 Publication1
Natural variantiVAR_00137299Y → C in COD3; type 1A; alters calcium ion sensitivity, leading to the constitutive stimulating activity of GC1 at high calcium ion concentration, where normal GUCA1A inhibits it. 3 PublicationsCorresponds to variant dbSNP:rs104893967EnsemblClinVar.1
Natural variantiVAR_060803100D → E in COD3; exhibits an about 28-fold shift of ionic calcium concentration at which the guanylate cyclase activity is halfmaximal. 1 Publication1
Natural variantiVAR_060805143I → NT in COD3. 1 Publication1
Natural variantiVAR_060806151L → F in COD3. 3 PublicationsCorresponds to variant dbSNP:rs121434631EnsemblClinVar.1
Natural variantiVAR_012987155E → G in COD3; constitutive activation of GC1. 1 Publication1
Natural variantiVAR_060807159G → V in COD3; exhibits an about 18-fold shift of ionic calcium concentration at which the guanylate cyclase activity is halfmaximal. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
2978

MalaCards human disease database

More...
MalaCardsi
GUCA1A
MIMi602093 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000048545

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

More...
Orphaneti
75377 Central areolar choroidal dystrophy
1872 Cone rod dystrophy
1871 Progressive cone dystrophy

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA29062

Chemistry databases

Drug and drug target database

More...
DrugBanki
DB08231 MYRISTIC ACID

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
GUCA1A

Domain mapping of disease mutations (DMDM)

More...
DMDMi
46577585

<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 <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedSequence analysis
<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_00000738032 – 201Guanylyl cyclase-activating protein 1Add BLAST200

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(s) and the type of covalently attached lipid group(s).<p><a href='/help/lipid' target='_top'>More...</a></p>Lipidationi2N-myristoyl glycineBy similarity1
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei3Deamidated asparagineSequence analysis1

Keywords - PTMi

Lipoprotein, Myristate

Proteomic databases

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

More...
PaxDbi
P43080

PeptideAtlas

More...
PeptideAtlasi
P43080

PRoteomics IDEntifications database

More...
PRIDEi
P43080

ProteomicsDB human proteome resource

More...
ProteomicsDBi
55577

<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; cone outer and inner segments, in particular, in disk membrane regions, and to a lesser extent rod inner and outer segments.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000048545 Expressed in 58 organ(s), highest expression level in sperm

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P43080 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
P43080 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA005561

<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)

More...
BioGridi
109233, 1 interactor

Protein interaction database and analysis system

More...
IntActi
P43080, 7 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000377784

<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

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

More...
SMRi
P43080

Database of comparative protein structure models

More...
ModBasei
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>Domaini14 – 49EF-hand 1PROSITE-ProRule annotationAdd BLAST36
Domaini51 – 86EF-hand 2PROSITE-ProRule annotationAdd BLAST36
Domaini87 – 122EF-hand 3PROSITE-ProRule annotationAdd BLAST36
Domaini131 – 166EF-hand 4PROSITE-ProRule annotationAdd BLAST36

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

Binds three calcium ions (via EF-hands 2, 3 and 4) when calcium levels are high. Binds Mg2+ when calcium levels are low.By similarity

Keywords - Domaini

Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG0044 Eukaryota
COG5126 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000160607

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000233019

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P43080

KEGG Orthology (KO)

More...
KOi
K08328

Database of Orthologous Groups

More...
OrthoDBi
1271942at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P43080

TreeFam database of animal gene trees

More...
TreeFami
TF333971

Family and domain databases

Conserved Domains Database

More...
CDDi
cd00051 EFh, 2 hits

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR011992 EF-hand-dom_pair
IPR018247 EF_Hand_1_Ca_BS
IPR002048 EF_hand_dom
IPR033022 GUCA1A
IPR028846 Recoverin

The PANTHER Classification System

More...
PANTHERi
PTHR23055 PTHR23055, 1 hit
PTHR23055:SF13 PTHR23055:SF13, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF13499 EF-hand_7, 1 hit
PF13833 EF-hand_8, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00054 EFh, 3 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF47473 SSF47473, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00018 EF_HAND_1, 3 hits
PS50222 EF_HAND_2, 4 hits

<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>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<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.

This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All

P43080-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MGNVMEGKSV EELSSTECHQ WYKKFMTECP SGQLTLYEFR QFFGLKNLSP
60 70 80 90 100
SASQYVEQMF ETFDFNKDGY IDFMEYVAAL SLVLKGKVEQ KLRWYFKLYD
110 120 130 140 150
VDGNGCIDRD ELLTIIQAIR AINPCSDTTM TAEEFTDTVF SKIDVNGDGE
160 170 180 190 200
LSLEEFIEGV QKDQMLLDTL TRSLDLTRIV RRLQNGEQDE EGADEAAEAA

G
Length:201
Mass (Da):22,920
Last modified:January 23, 2007 - v3
<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:i063C6AD61BE44406
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A0A0MTF5A0A0A0MTF5_HUMAN
Guanylyl cyclase-activating protein...
GUCA1A
205Annotation score:

Annotation score:1 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>
A6PVH5A6PVH5_HUMAN
Guanylyl cyclase-activating protein...
GUCA1A
88Annotation score:

Annotation score:1 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 Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti79A → G in AAA60541 (PubMed:7983048).Curated1
Sequence conflicti79A → G in AAA60542 (PubMed:7983048).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01064850P → L in COD3; some subjects may present a moderately severe cone-rod dystrophy; causes a decrease in the number of bound calcium ions from 3 to 2, without changing the activity profile. 2 PublicationsCorresponds to variant dbSNP:rs104893968EnsemblClinVar.1
Natural variantiVAR_06080289E → K in COD3; exhibits an about 6-fold shift of ionic calcium concentration at which the guanylate cyclase activity is halfmaximal. 1 Publication1
Natural variantiVAR_00137299Y → C in COD3; type 1A; alters calcium ion sensitivity, leading to the constitutive stimulating activity of GC1 at high calcium ion concentration, where normal GUCA1A inhibits it. 3 PublicationsCorresponds to variant dbSNP:rs104893967EnsemblClinVar.1
Natural variantiVAR_060803100D → E in COD3; exhibits an about 28-fold shift of ionic calcium concentration at which the guanylate cyclase activity is halfmaximal. 1 Publication1
Natural variantiVAR_060804114T → I in a patient with an atypical form of retinitis pigmentosa; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs771261841Ensembl.1
Natural variantiVAR_060805143I → NT in COD3. 1 Publication1
Natural variantiVAR_060806151L → F in COD3. 3 PublicationsCorresponds to variant dbSNP:rs121434631EnsemblClinVar.1
Natural variantiVAR_012987155E → G in COD3; constitutive activation of GC1. 1 Publication1
Natural variantiVAR_060807159G → V in COD3; exhibits an about 18-fold shift of ionic calcium concentration at which the guanylate cyclase activity is halfmaximal. 1 Publication1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
L36859 mRNA Translation: AAA60541.1
L36861 Genomic DNA Translation: AAA60542.1
AK125780 mRNA Translation: BAG54246.1
AL096814 Genomic DNA No translation available.
CH471081 Genomic DNA Translation: EAX04084.1
BC031663 mRNA Translation: AAH31663.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS4864.1

Protein sequence database of the Protein Information Resource

More...
PIRi
C55331

NCBI Reference Sequences

More...
RefSeqi
NP_000400.2, NM_000409.4
NP_001305990.1, NM_001319061.1
NP_001305991.1, NM_001319062.1
XP_011512839.1, XM_011514537.2
XP_011512841.1, XM_011514539.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000053469; ENSP00000053469; ENSG00000048545
ENST00000372958; ENSP00000362049; ENSG00000048545
ENST00000394237; ENSP00000377784; ENSG00000048545

Database of genes from NCBI RefSeq genomes

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GeneIDi
2978

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:2978

UCSC genome browser

More...
UCSCi
uc003orx.4 human

<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 GUCA1A gene

Retina International's Scientific Newsletter

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L36859 mRNA Translation: AAA60541.1
L36861 Genomic DNA Translation: AAA60542.1
AK125780 mRNA Translation: BAG54246.1
AL096814 Genomic DNA No translation available.
CH471081 Genomic DNA Translation: EAX04084.1
BC031663 mRNA Translation: AAH31663.1
CCDSiCCDS4864.1
PIRiC55331
RefSeqiNP_000400.2, NM_000409.4
NP_001305990.1, NM_001319061.1
NP_001305991.1, NM_001319062.1
XP_011512839.1, XM_011514537.2
XP_011512841.1, XM_011514539.1

3D structure databases

SMRiP43080
ModBaseiSearch...

Protein-protein interaction databases

BioGridi109233, 1 interactor
IntActiP43080, 7 interactors
STRINGi9606.ENSP00000377784

Chemistry databases

DrugBankiDB08231 MYRISTIC ACID

Polymorphism and mutation databases

BioMutaiGUCA1A
DMDMi46577585

Proteomic databases

PaxDbiP43080
PeptideAtlasiP43080
PRIDEiP43080
ProteomicsDBi55577

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
2978
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000053469; ENSP00000053469; ENSG00000048545
ENST00000372958; ENSP00000362049; ENSG00000048545
ENST00000394237; ENSP00000377784; ENSG00000048545
GeneIDi2978
KEGGihsa:2978
UCSCiuc003orx.4 human

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
2978
DisGeNETi2978

GeneCards: human genes, protein and diseases

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GeneCardsi
GUCA1A
HGNCiHGNC:4678 GUCA1A
HPAiHPA005561
MalaCardsiGUCA1A
MIMi600364 gene
602093 phenotype
neXtProtiNX_P43080
OpenTargetsiENSG00000048545
Orphaneti75377 Central areolar choroidal dystrophy
1872 Cone rod dystrophy
1871 Progressive cone dystrophy
PharmGKBiPA29062

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0044 Eukaryota
COG5126 LUCA
GeneTreeiENSGT00940000160607
HOGENOMiHOG000233019
InParanoidiP43080
KOiK08328
OrthoDBi1271942at2759
PhylomeDBiP43080
TreeFamiTF333971

Enzyme and pathway databases

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

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
GUCA1A

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

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GenomeRNAii
2978

Protein Ontology

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PROi
PR:P43080

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000048545 Expressed in 58 organ(s), highest expression level in sperm
ExpressionAtlasiP43080 baseline and differential
GenevisibleiP43080 HS

Family and domain databases

CDDicd00051 EFh, 2 hits
InterProiView protein in InterPro
IPR011992 EF-hand-dom_pair
IPR018247 EF_Hand_1_Ca_BS
IPR002048 EF_hand_dom
IPR033022 GUCA1A
IPR028846 Recoverin
PANTHERiPTHR23055 PTHR23055, 1 hit
PTHR23055:SF13 PTHR23055:SF13, 1 hit
PfamiView protein in Pfam
PF13499 EF-hand_7, 1 hit
PF13833 EF-hand_8, 1 hit
SMARTiView protein in SMART
SM00054 EFh, 3 hits
SUPFAMiSSF47473 SSF47473, 1 hit
PROSITEiView protein in PROSITE
PS00018 EF_HAND_1, 3 hits
PS50222 EF_HAND_2, 4 hits

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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 nameiGUC1A_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: P43080
Secondary accession number(s): B3KWT4, Q7Z6T1, Q9NU14
<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: November 1, 1995
Last sequence update: January 23, 2007
Last modified: May 8, 2019
This is version 186 of the entry and version 3 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

Complete proteome, Reference proteome

Documents

  1. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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