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Aliases for GUCA1B Gene

Aliases for GUCA1B Gene

  • Guanylate Cyclase Activator 1B 2 3 4 5
  • Guanylate Cyclase Activator 1B (Retina) 2 3
  • GCAP 2 3 4
  • GCAP2 3 4
  • Guanylate Cyclase-Activating Protein, Photoreceptor 2 3
  • GUCA2 3
  • RP48 3

External Ids for GUCA1B Gene

Previous GeneCards Identifiers for GUCA1B Gene

  • GC06M042154
  • GC06M042198
  • GC06M042199
  • GC06M042259
  • GC06M041870

Summaries for GUCA1B Gene

Entrez Gene Summary for GUCA1B Gene

  • The protein encoded by this gene is a calcium-binding protein that activates photoreceptor guanylate cyclases. This gene may have arisen due to a gene duplication event since there is a highly similar gene clustered with it on chromosome 6. Mutations in this gene can cause a form of retinitis pigmentosa. [provided by RefSeq, Nov 2009]

GeneCards Summary for GUCA1B Gene

GUCA1B (Guanylate Cyclase Activator 1B) is a Protein Coding gene. Diseases associated with GUCA1B include retinitis pigmentosa 48 and guca1b-related retinitis pigmentosa. Among its related pathways are Signaling by GPCR and Metabolism of fat-soluble vitamins. GO annotations related to this gene include calcium ion binding and guanylate cyclase regulator activity. An important paralog of this gene is KCNIP3.

UniProtKB/Swiss-Prot for GUCA1B Gene

  • Stimulates guanylyl cyclase 1 (GC1) and GC2 when free calcium ions concentration is low, and GC1 and GC2 when free calcium ions concentration is elevated. This Ca(2+)-sensitive regulation of GC is a key event in recovery of the dark state of rod photoreceptors following light exposure.

Gene Wiki entry for GUCA1B Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GUCA1B Gene

Genomics for GUCA1B Gene

Regulatory Elements for GUCA1B Gene

Genomic Location for GUCA1B Gene

Chromosome:
6
Start:
42,183,284 bp from pter
End:
42,206,551 bp from pter
Size:
23,268 bases
Orientation:
Minus strand

Genomic View for GUCA1B Gene

Genes around GUCA1B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GUCA1B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GUCA1B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GUCA1B Gene

Proteins for GUCA1B Gene

  • Protein details for GUCA1B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UMX6-GUC1B_HUMAN
    Recommended name:
    Guanylyl cyclase-activating protein 2
    Protein Accession:
    Q9UMX6
    Secondary Accessions:
    • Q9NU15

    Protein attributes for GUCA1B Gene

    Size:
    200 amino acids
    Molecular mass:
    23420 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • Binds three calcium ions.

neXtProt entry for GUCA1B Gene

Proteomics data for GUCA1B Gene at MOPED

Post-translational modifications for GUCA1B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GUCA1B Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for GUCA1B Gene

Domains & Families for GUCA1B Gene

Gene Families for GUCA1B Gene

Protein Domains for GUCA1B Gene

Suggested Antigen Peptide Sequences for GUCA1B Gene

Graphical View of Domain Structure for InterPro Entry

Q9UMX6

UniProtKB/Swiss-Prot:

GUC1B_HUMAN :
  • Contains 4 EF-hand domains.
Domain:
  • Contains 4 EF-hand domains.
genes like me logo Genes that share domains with GUCA1B: view

Function for GUCA1B Gene

Molecular function for GUCA1B Gene

GENATLAS Biochemistry:
guanylate cyclase-activating protein,only expressed in the retina,calmodulin family,regulating phosphoreceptor membrane guanylyl cyclase RETGC2 in a Ca2+ sensitive manner (but less effective than GCAP1 for stimulating RETGC1)
UniProtKB/Swiss-Prot Function:
Stimulates guanylyl cyclase 1 (GC1) and GC2 when free calcium ions concentration is low, and GC1 and GC2 when free calcium ions concentration is elevated. This Ca(2+)-sensitive regulation of GC is a key event in recovery of the dark state of rod photoreceptors following light exposure.

Gene Ontology (GO) - Molecular Function for GUCA1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
genes like me logo Genes that share ontologies with GUCA1B: view
genes like me logo Genes that share phenotypes with GUCA1B: view

Human Phenotype Ontology for GUCA1B Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GUCA1B Gene

MGI Knock Outs for GUCA1B:

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for GUCA1B Gene

Localization for GUCA1B Gene

Subcellular locations from UniProtKB/Swiss-Prot for GUCA1B Gene

Cell membrane. Note=Membranes of outer segment.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GUCA1B Gene COMPARTMENTS Subcellular localization image for GUCA1B gene
Compartment Confidence
plasma membrane 5
cytosol 3
nucleus 2
golgi apparatus 1
mitochondrion 1
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components for GUCA1B Gene

Pathways & Interactions for GUCA1B Gene

genes like me logo Genes that share pathways with GUCA1B: view

Pathways by source for GUCA1B Gene

Gene Ontology (GO) - Biological Process for GUCA1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007589 body fluid secretion TAS 1327879
GO:0007601 visual perception IEA --
GO:0007602 phototransduction IEA --
GO:0007603 phototransduction, visible light TAS --
GO:0016056 rhodopsin mediated signaling pathway TAS --
genes like me logo Genes that share ontologies with GUCA1B: view

No data available for SIGNOR curated interactions for GUCA1B Gene

Drugs & Compounds for GUCA1B Gene

(3) Drugs for GUCA1B Gene - From: Novoseek and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0

(1) Additional Compounds for GUCA1B Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with GUCA1B: view

Transcripts for GUCA1B Gene

mRNA/cDNA for GUCA1B Gene

(2) REFSEQ mRNAs :
(1) Additional mRNA sequences :
(36) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for GUCA1B Gene

Guanylate cyclase activator 1B (retina):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for GUCA1B Gene

No ASD Table

Relevant External Links for GUCA1B Gene

GeneLoc Exon Structure for
GUCA1B
ECgene alternative splicing isoforms for
GUCA1B

Expression for GUCA1B Gene

mRNA expression in normal human tissues for GUCA1B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for GUCA1B Gene

This gene is overexpressed in Retina (36.1) and Stomach (32.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for GUCA1B Gene



SOURCE GeneReport for Unigene cluster for GUCA1B Gene Hs.446529

mRNA Expression by UniProt/SwissProt for GUCA1B Gene

Q9UMX6-GUC1B_HUMAN
Tissue specificity: Retina. Cones and rod.
genes like me logo Genes that share expression patterns with GUCA1B: view

Protein tissue co-expression partners for GUCA1B Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for GUCA1B Gene

Orthologs for GUCA1B Gene

This gene was present in the common ancestor of chordates.

Orthologs for GUCA1B Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia GUCA1B 35
  • 86.83 (n)
  • 86.5 (a)
GUCA1B 36
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GUCA1B 35
  • 87.83 (n)
  • 89 (a)
GUCA1B 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Guca1b 35
  • 86.17 (n)
  • 88.5 (a)
Guca1b 16
Guca1b 36
  • 88 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GUCA1B 35
  • 99.67 (n)
  • 100 (a)
GUCA1B 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Guca1b 35
  • 87.17 (n)
  • 89 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia GUCA1B 36
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves GUCA1B 35
  • 73.4 (n)
  • 78.28 (a)
GUCA1B 36
  • 78 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GUCA1B 36
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100489509 35
  • 72.25 (n)
  • 78.68 (a)
zebrafish
(Danio rerio)
Actinopterygii guca1b 35
  • 71.57 (n)
  • 75.63 (a)
guca1b 36
  • 74 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.795 36
  • 30 (a)
OneToMany
Species with no ortholog for GUCA1B:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for GUCA1B Gene

ENSEMBL:
Gene Tree for GUCA1B (if available)
TreeFam:
Gene Tree for GUCA1B (if available)

Paralogs for GUCA1B Gene

genes like me logo Genes that share paralogs with GUCA1B: view

Variants for GUCA1B Gene

Sequence variations from dbSNP and Humsavar for GUCA1B Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs139923590 - 42,185,690(+) CCATT(A/C)TCATC reference, missense
rs121909124 Retinitis pigmentosa 48 (RP48) 42,185,686(-) AGAAT(A/G)GAGAT reference, missense
rs760356 -- 42,184,371(-) gctca(C/T)gcctg utr-variant-3-prime
rs1142723 -- 42,200,291(-) tggaa(C/G)ctgcc intron-variant
rs1065236 -- 42,200,150(-) agagg(C/T)gctag intron-variant

Structural Variations from Database of Genomic Variants (DGV) for GUCA1B Gene

Variant ID Type Subtype PubMed ID
nsv830649 CNV Loss 17160897
nsv510026 CNV Loss 20534489

Variation tolerance for GUCA1B Gene

Residual Variation Intolerance Score: 44.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.98; 36.62% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GUCA1B Gene

HapMap Linkage Disequilibrium report
GUCA1B
Human Gene Mutation Database (HGMD)
GUCA1B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GUCA1B Gene

Disorders for GUCA1B Gene

MalaCards: The human disease database

(5) MalaCards diseases for GUCA1B Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
retinitis pigmentosa 48
  • rp48
guca1b-related retinitis pigmentosa
retinitis pigmentosa
  • retinitis pigmentosa 1
cone-rod dystrophy
  • cone-rod dystrophy 5
leber congenital amaurosis
  • lca
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

GUC1B_HUMAN
  • Retinitis pigmentosa 48 (RP48) [MIM:613827]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269 PubMed:15452722}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for GUCA1B

Genetic Association Database (GAD)
GUCA1B
Human Genome Epidemiology (HuGE) Navigator
GUCA1B
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GUCA1B
genes like me logo Genes that share disorders with GUCA1B: view

No data available for Genatlas for GUCA1B Gene

Publications for GUCA1B Gene

  1. Mutations in the gene coding for guanylate cyclase-activating protein 2 (GUCA1B gene) in patients with autosomal dominant retinal dystrophies. (PMID: 15452722) Sato M. … Ohguro H. (Graefes Arch. Clin. Exp. Ophthalmol. 2005) 3 4 23 48 67
  2. The human GCAP1 and GCAP2 genes are arranged in a tail-to-tail array on the short arm of chromosome 6 (p21.1). (PMID: 9119368) Surguchov A. … Baehr W. (Genomics 1997) 2 3 23
  3. A novel mutation (I143NT) in guanylate cyclase-activating protein 1 (GCAP1) associated with autosomal dominant cone degeneration. (PMID: 15505030) Nishiguchi K.M. … Baehr W. (Invest. Ophthalmol. Vis. Sci. 2004) 3 23
  4. Genetic analysis of the guanylate cyclase activator 1B (GUCA1B) gene in patients with autosomal dominant retinal dystrophies. (PMID: 10507726) Payne A.M. … Bhattacharya S.S. (J. Med. Genet. 1999) 3 23
  5. The kinase homology domain of retinal guanylyl cyclases 1 and 2 specifies the affinity and cooperativity of interaction with guanylyl cyclase activating protein-2. (PMID: 9698373) Laura R.P. … Hurley J.B. (Biochemistry 1998) 3 23

Products for GUCA1B Gene

Sources for GUCA1B Gene

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