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Aliases for CABP5 Gene

Aliases for CABP5 Gene

  • Calcium Binding Protein 5 2 3 5
  • CABP3 3 4
  • Calcium Binding Protein 3 2
  • Calcium-Binding Protein 3 3
  • Calcium-Binding Protein 5 3
  • CaBP5 4

External Ids for CABP5 Gene

Previous HGNC Symbols for CABP5 Gene

  • CABP3

Previous GeneCards Identifiers for CABP5 Gene

  • GC19M049177
  • GC19M048901
  • GC19M053209
  • GC19M053226
  • GC19M053228
  • GC19M053229
  • GC19M048533
  • GC19M044915

Summaries for CABP5 Gene

Entrez Gene Summary for CABP5 Gene

  • The product of this gene belongs to a subfamily of calcium binding proteins, which share similarity to calmodulin. Calcium binding proteins are an important component of calcium mediated cellular signal transduction. Expression of this gene is retina-specific. The mouse homolog of this protein has been shown to express in the inner nuclear layer of the retina, suggested its role in neuronal functioning. The specific function of this gene is unknown. [provided by RefSeq, Oct 2009]

GeneCards Summary for CABP5 Gene

CABP5 (Calcium Binding Protein 5) is a Protein Coding gene. Diseases associated with CABP5 include Amebiasis. Among its related pathways are Visual Cycle in Retinal Rods. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is CABP1.

UniProtKB/Swiss-Prot for CABP5 Gene

  • Inhibits calcium-dependent inactivation of L-type calcium channel and shifts voltage dependence of activation to more depolarized membrane potentials. Involved in the transmission of light signals (By similarity).

Additional gene information for CABP5 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CABP5 Gene

Genomics for CABP5 Gene

GeneHancer (GH) Regulatory Elements for CABP5 Gene

Promoters and enhancers for CABP5 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19I048044 Promoter 0.8 EPDnew 550.8 0.0 -35 0.1 TCF12 KLF1 SP3 IKZF1 TAL1 CBFA2T3 CBFA2T2 CABP5 PLA2G4C-AS1
GH19I047789 Enhancer 1 FANTOM5 ENCODE 27.7 +253.5 253529 1.1 CTCF KLF1 SIN3A RAD21 ZFHX2 ZNF366 POLR2A PATZ1 VEZF1 ZNF143 CABP5 CRX ZC3H4 NOP53-AS1 GRWD1 RASIP1 BICRA NOP53 ENSG00000271150 GC19P047784
GH19I048061 Enhancer 0.2 FANTOM5 48.7 -17.2 -17175 0.4 PLA2G4C-AS1 CABP5 KCNJ14 CRX PLA2G4C
GH19I047963 Enhancer 0.8 ENCODE 11.1 +80.7 80705 0.2 PKNOX1 RB1 ZNF2 RAD21 ZEB1 ARID2 SCRT2 ZNF143 MIXL1 ZNF654 PLA2G4C BSPH1 ELSPBP1 CABP5 SULT2A1 LMTK3 SYNGR4 TMEM143 SNAR-C1 GC19M047959
GH19I047798 Enhancer 0.3 FANTOM5 21.5 +245.9 245902 0.2 CABP5 CRX SNORD23 NOP53 SULT2A1 RPL23AP80 TPRX1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CABP5 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CABP5 gene promoter:

Genomic Locations for CABP5 Gene

Genomic Locations for CABP5 Gene
chr19:48,029,383-48,044,054
(GRCh38/hg38)
Size:
14,672 bases
Orientation:
Minus strand
chr19:48,532,640-48,547,311
(GRCh37/hg19)

Genomic View for CABP5 Gene

Genes around CABP5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CABP5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CABP5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CABP5 Gene

Proteins for CABP5 Gene

  • Protein details for CABP5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NP86-CABP5_HUMAN
    Recommended name:
    Calcium-binding protein 5
    Protein Accession:
    Q9NP86
    Secondary Accessions:
    • A0AUY4

    Protein attributes for CABP5 Gene

    Size:
    173 amino acids
    Molecular mass:
    19826 Da
    Quaternary structure:
    • Interacts with CACNA1C (via C-terminal CDB motif) in a calcium-dependent manner.

neXtProt entry for CABP5 Gene

Post-translational modifications for CABP5 Gene

No Post-translational modifications

Other Protein References for CABP5 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CABP5 Gene

Domains & Families for CABP5 Gene

Gene Families for CABP5 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CABP5 Gene

Suggested Antigen Peptide Sequences for CABP5 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with CABP5: view

No data available for UniProtKB/Swiss-Prot for CABP5 Gene

Function for CABP5 Gene

Molecular function for CABP5 Gene

UniProtKB/Swiss-Prot Function:
Inhibits calcium-dependent inactivation of L-type calcium channel and shifts voltage dependence of activation to more depolarized membrane potentials. Involved in the transmission of light signals (By similarity).

Phenotypes From GWAS Catalog for CABP5 Gene

Gene Ontology (GO) - Molecular Function for CABP5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding NAS 10625670
GO:0005515 protein binding IPI 25416956
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with CABP5: view
genes like me logo Genes that share phenotypes with CABP5: view

Animal Model Products

miRNA for CABP5 Gene

miRTarBase miRNAs that target CABP5

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CABP5 Gene

Localization for CABP5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CABP5 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CABP5 gene
Compartment Confidence
cytosol 5
nucleus 2

Gene Ontology (GO) - Cellular Components for CABP5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA 19338761
genes like me logo Genes that share ontologies with CABP5: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CABP5 Gene

Pathways & Interactions for CABP5 Gene

SuperPathways for CABP5 Gene

SuperPathway Contained pathways
1 Visual Cycle in Retinal Rods
genes like me logo Genes that share pathways with CABP5: view

Pathways by source for CABP5 Gene

1 Qiagen pathway for CABP5 Gene

Gene Ontology (GO) - Biological Process for CABP5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction NAS 10625670
genes like me logo Genes that share ontologies with CABP5: view

No data available for SIGNOR curated interactions for CABP5 Gene

Drugs & Compounds for CABP5 Gene

No Compound Related Data Available

Transcripts for CABP5 Gene

mRNA/cDNA for CABP5 Gene

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

Unigene Clusters for CABP5 Gene

Calcium binding protein 5:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CABP5 Gene

No ASD Table

Relevant External Links for CABP5 Gene

GeneLoc Exon Structure for
CABP5
ECgene alternative splicing isoforms for
CABP5

Expression for CABP5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CABP5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CABP5 Gene

This gene is overexpressed in Whole Blood (x37.8).

Protein differential expression in normal tissues from HIPED for CABP5 Gene

This gene is overexpressed in Retina (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CABP5 Gene



Protein tissue co-expression partners for CABP5 Gene

NURSA nuclear receptor signaling pathways regulating expression of CABP5 Gene:

CABP5

SOURCE GeneReport for Unigene cluster for CABP5 Gene:

Hs.117694

mRNA Expression by UniProt/SwissProt for CABP5 Gene:

Q9NP86-CABP5_HUMAN
Tissue specificity: Retina.

Evidence on tissue expression from TISSUES for CABP5 Gene

  • Eye(4.3)
genes like me logo Genes that share expression patterns with CABP5: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for CABP5 Gene

Orthologs for CABP5 Gene

This gene was present in the common ancestor of animals.

Orthologs for CABP5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CABP5 33 34
  • 99.13 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CABP5 34
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CABP5 33 34
  • 90.94 (n)
cow
(Bos Taurus)
Mammalia CABP5 33 34
  • 89.4 (n)
rat
(Rattus norvegicus)
Mammalia Cabp5 33
  • 89.02 (n)
mouse
(Mus musculus)
Mammalia Cabp5 33 16 34
  • 88.63 (n)
lizard
(Anolis carolinensis)
Reptilia CABP5 34
  • 88 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii cabp5a 33 34
  • 72.22 (n)
cabp5b 34
  • 72 (a)
OneToMany
-- 33
fruit fly
(Drosophila melanogaster)
Insecta CG11638 34
  • 15 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea cal-8 34
  • 31 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 34 (a)
OneToMany
Species where no ortholog for CABP5 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)
  • chicken (Gallus gallus)
  • 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)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for CABP5 Gene

ENSEMBL:
Gene Tree for CABP5 (if available)
TreeFam:
Gene Tree for CABP5 (if available)

Paralogs for CABP5 Gene

(21) SIMAP similar genes for CABP5 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with CABP5: view

Variants for CABP5 Gene

Sequence variations from dbSNP and Humsavar for CABP5 Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs1000148987 -- 48,034,951(-) T/A intron_variant
rs1000194017 -- 48,031,817(-) C/T intron_variant
rs1000244378 -- 48,034,769(-) C/T intron_variant
rs1000303327 -- 48,037,398(-) A/G intron_variant
rs1000377984 -- 48,037,621(-) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for CABP5 Gene

Variant ID Type Subtype PubMed ID
dgv3610n100 CNV gain 25217958
dgv3611n100 CNV gain 25217958
dgv3612n100 CNV gain 25217958
esv25290 CNV loss 19812545
esv2619667 CNV insertion 19546169
esv34181 CNV loss 18971310
esv3893228 CNV loss 25118596
nsv1058622 CNV gain 25217958
nsv1058785 CNV gain 25217958
nsv1062163 CNV gain 25217958
nsv428367 CNV gain+loss 18775914
nsv579900 CNV loss 21841781
nsv579901 CNV loss 21841781
nsv833853 CNV loss 17160897
nsv9739 CNV gain+loss 18304495

Variation tolerance for CABP5 Gene

Residual Variation Intolerance Score: 84.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.78; 79.03% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CABP5 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CABP5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CABP5 Gene

Disorders for CABP5 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CABP5 Gene - From: DISEASES

Disorder Aliases PubMed IDs
amebiasis
  • amoebiasis
- elite association - COSMIC cancer census association via MalaCards
Search CABP5 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CABP5

genes like me logo Genes that share disorders with CABP5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CABP5 Gene

Publications for CABP5 Gene

  1. Five members of a novel Ca(2+)-binding protein (CABP) subfamily with similarity to calmodulin. (PMID: 10625670) Haeseleer F … Palczewski K (The Journal of biological chemistry 2000) 2 3 4 58
  2. Membrane targeting of the EF-hand containing calcium-sensing proteins CaBP7 and CaBP8. (PMID: 19338761) McCue HV … Haynes LP (Biochemical and biophysical research communications 2009) 3 4 58
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  4. Ca(2+)-binding proteins in the retina: from discovery to etiology of human disease(1). (PMID: 11108966) Sokal I … Palczewski K (Biochimica et biophysica acta 2000) 3 4 58
  5. Transient covalent interactions of newly synthesized thyroglobulin with oxidoreductases of the endoplasmic reticulum. (PMID: 24599957) Di Jeso B … Arvan P (The Journal of biological chemistry 2014) 3 58

Products for CABP5 Gene

Sources for CABP5 Gene

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