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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
  • Guanylyl Cyclase-Activating Protein 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 Metabolism of fat-soluble vitamins and Phototransduction. GO annotations related to this gene include calcium ion binding and guanylate cyclase regulator activity. An important paralog of this gene is GUCA1A.

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

Enhancers for GUCA1B Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06F042148 0.8 ENCODE 15.8 +58.3 58267 1.7 PKNOX1 KLF17 FEZF1 ZNF2 ZNF366 SCRT2 KLF7 ZNF263 OVOL3 REST GUCA1B ENSG00000206977 C6orf132 GUCA1A
GH06F042135 0.7 ENCODE 15.1 +67.1 67131 8.8 HDGF PKNOX1 CREB3L1 ZFP64 ARID4B FEZF1 ZNF2 YY1 SLC30A9 ZNF766 GUCA1B RRP36 ENSG00000261068 C6orf132 GC06P042135
GH06F042223 0.5 Ensembl ENCODE 11.4 -20.3 -20251 5.9 PKNOX1 ARID4B SIN3A FEZF1 ZNF766 FOS SP3 ZHX2 JUNB REST MRPS10 GUCA1B ENSG00000214732 GUCA1A C6orf132 PIR36094
GH06F042094 0.5 Ensembl ENCODE 11.2 +112.4 112351 0.4 CTCF HDGF ESRRA SP2 CEBPB RAD21 JUND IKZF1 KLF9 ENSG00000214732 GUCA1A C6orf132 GUCA1B FRS3 PRICKLE4 ENSG00000206977 ENSG00000261068 TAF8
GH06F042093 0.4 ENCODE 11.2 +113.5 113478 0.1 CBX3 POLR2A GUCA1B ENSG00000214732 GUCA1A ENSG00000206977 ENSG00000261068 TAF8
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around GUCA1B on UCSC Golden Path with GeneCards custom track

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

Post-translational modifications for GUCA1B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GUCA1B Gene

ENSEMBL proteins:
REFSEQ proteins:

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 --
GO:0008048 calcium sensitive guanylate cyclase activator activity IEA,TAS --
GO:0030249 guanylate cyclase regulator activity IEA --
GO:0046872 metal 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

Inhibitory RNA Products

Clone Products

Flow Cytometry 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

Gene Ontology (GO) - Cellular Components for GUCA1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001917 photoreceptor inner segment IEA --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0097381 photoreceptor disc membrane TAS --
genes like me logo Genes that share ontologies with GUCA1B: view

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:0007168 receptor guanylyl cyclase signaling pathway TAS 1327879
GO:0007267 cell-cell signaling TAS 1409606
GO:0007589 body fluid secretion TAS 1327879
GO:0007601 visual perception IEA --
GO:0007602 phototransduction IEA --
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: HMDB and Novoseek

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

(1) 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:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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



Protein tissue co-expression partners for GUCA1B Gene

NURSA nuclear receptor signaling pathways regulating expression of GUCA1B Gene:

GUCA1B

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

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia GUCA1B 34 35
  • 99.67 (n)
dog
(Canis familiaris)
Mammalia GUCA1B 34 35
  • 87.83 (n)
rat
(Rattus norvegicus)
Mammalia Guca1b 34
  • 87.17 (n)
cow
(Bos Taurus)
Mammalia GUCA1B 34 35
  • 86.83 (n)
mouse
(Mus musculus)
Mammalia Guca1b 34 16 35
  • 86.17 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia GUCA1B 35
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves GUCA1B 34 35
  • 73.4 (n)
lizard
(Anolis carolinensis)
Reptilia GUCA1B 35
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100489509 34
  • 72.25 (n)
zebrafish
(Danio rerio)
Actinopterygii guca1b 34 35
  • 71.57 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.795 35
  • 30 (a)
OneToMany
Species where no ortholog for GUCA1B was found in the sources mined by GeneCards:
  • 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

Variants for GUCA1B Gene

Sequence variations from dbSNP and Humsavar for GUCA1B Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs121909124 Retinitis pigmentosa 48 (RP48) [MIM:613827], Pathogenic 42,185,686(-) AGAAT(A/G)GAGAT reference, missense
rs150562239 Uncertain significance 42,185,769(+) CTCGC(C/T)GGCAG reference, missense
rs587783025 Uncertain significance 42,194,718(-) CCAGC(A/G)GCACA reference, missense
rs794727264 Uncertain significance 42,188,642(-) TTCAA(A/G)ATCTA reference, synonymous-codon
rs137853903 untested 42,188,686(-) ATCTC(A/G)TGCTG reference, missense

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

Variant ID Type Subtype PubMed ID
esv3608795 CNV gain 21293372
nsv1109769 CNV deletion 24896259
nsv510026 OTHER sequence alteration 20534489
nsv830649 CNV loss 17160897

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

Human Gene Mutation Database (HGMD)
GUCA1B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GUCA1B

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

Disorders for GUCA1B Gene

MalaCards: The human disease database

(8) MalaCards diseases for GUCA1B Gene - From: OMIM, 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
hereditary choroidal atrophy
  • hereditary choroidal dystrophy
partial central choroid dystrophy
  • choroidal dystrophy, central areolar
- 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 22 46 64
  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 4 22 64
  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 22 46 64
  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 4 22 64
  5. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall A.J. … Beck S. (Nature 2003) 3 4 64

Products for GUCA1B Gene

Sources for GUCA1B Gene

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