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Aliases for CALB1 Gene

Aliases for CALB1 Gene

  • Calbindin 1 2 3 5
  • Vitamin D-Dependent Calcium-Binding Protein, Avian-Type 3 4
  • Calbindin 1, 28kDa 2 3
  • Calbindin D28 3 4
  • D-28K 3 4
  • Calbindin 1, (28kD) 3
  • RTVL-H Protein 3
  • Calbindin 27 3
  • Calbindin 3
  • CAB27 4
  • CALB 3

External Ids for CALB1 Gene

Previous HGNC Symbols for CALB1 Gene

  • CALB

Previous GeneCards Identifiers for CALB1 Gene

  • GC08M089502
  • GC08M090803
  • GC08M091027
  • GC08M091140
  • GC08M091070
  • GC08M086281

Summaries for CALB1 Gene

Entrez Gene Summary for CALB1 Gene

  • The protein encoded by this gene is a member of the calcium-binding protein superfamily that includes calmodulin and troponin C. Originally described as a 27 kDa protein, it is now known to be a 28 kDa protein. It contains four active calcium-binding domains, and has two modified domains that are thought to have lost their calcium binding capability. This protein is thought to buffer entry of calcium upon stimulation of glutamate receptors. Depletion of this protein was noted in patients with Huntington disease. [provided by RefSeq, Jan 2015]

GeneCards Summary for CALB1 Gene

CALB1 (Calbindin 1) is a Protein Coding gene. Diseases associated with CALB1 include Huntington Disease and Temporal Lobe Epilepsy. Among its related pathways are Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 and Metabolism of proteins. GO annotations related to this gene include calcium ion binding and vitamin D binding. An important paralog of this gene is CALB2.

UniProtKB/Swiss-Prot for CALB1 Gene

  • Buffers cytosolic calcium. May stimulate a membrane Ca(2+)-ATPase and a 3,5-cyclic nucleotide phosphodiesterase.

Additional gene information for CALB1 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CALB1 Gene

Genomics for CALB1 Gene

Regulatory Elements for CALB1 Gene

Enhancers for CALB1 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
GH08H089789 0.6 ENCODE dbSUPER 4.6 +305.1 305124 1 MYNN LOC101929709 CALB1 RIPK2 COX6B1P6
GH08H090322 0.3 FANTOM5 1.4 -226.8 -226833 0 CALB1 LINC00534 GC08M090422
GH08H090167 1 ENCODE 0.2 -72.5 -72513 0 PKNOX1 ATF1 ARNT TCF12 ZNF766 CBX5 GATA2 ELK1 ATF7 NCOA1 NBN LINC00534 CALB1
GH08H090164 0.8 ENCODE 0.2 -69.7 -69653 2 HDAC1 ELF3 PKNOX1 FOXA2 TAL1 ETV1 RELA TCF12 ZNF316 NCOR1 NBN LINC00534 CALB1
GH08H090197 1 ENCODE 0.1 -102.0 -102033 0 PKNOX1 ATF1 ARNT TCF12 ZNF766 GATA2 ELK1 ATF7 CAVIN1 NCOA1 LINC00534 CALB1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CALB1 on UCSC Golden Path with GeneCards custom track

Genomic Location for CALB1 Gene

Chromosome:
8
Start:
90,058,608 bp from pter
End:
90,095,475 bp from pter
Size:
36,868 bases
Orientation:
Minus strand

Genomic View for CALB1 Gene

Genes around CALB1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CALB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CALB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CALB1 Gene

Proteins for CALB1 Gene

  • Protein details for CALB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P05937-CALB1_HUMAN
    Recommended name:
    Calbindin
    Protein Accession:
    P05937
    Secondary Accessions:
    • B2R696
    • B7Z9J4

    Protein attributes for CALB1 Gene

    Size:
    261 amino acids
    Molecular mass:
    30025 Da
    Quaternary structure:
    • Interacts with RANBP9.

    Alternative splice isoforms for CALB1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CALB1 Gene

Post-translational modifications for CALB1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CALB1 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for CALB1 (CALB1)

No data available for DME Specific Peptides for CALB1 Gene

Domains & Families for CALB1 Gene

Gene Families for CALB1 Gene

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

Protein Domains for CALB1 Gene

Graphical View of Domain Structure for InterPro Entry

P05937

UniProtKB/Swiss-Prot:

CALB1_HUMAN :
  • This protein has four functional calcium-binding sites; potential sites II and VI have lost affinity for calcium.
  • Belongs to the calbindin family.
Domain:
  • This protein has four functional calcium-binding sites; potential sites II and VI have lost affinity for calcium.
Family:
  • Belongs to the calbindin family.
genes like me logo Genes that share domains with CALB1: view

Function for CALB1 Gene

Molecular function for CALB1 Gene

GENATLAS Biochemistry:
calbindin (28kDa),vitamin D dependent calcium binding protein 1,from the intestine
UniProtKB/Swiss-Prot Function:
Buffers cytosolic calcium. May stimulate a membrane Ca(2+)-ATPase and a 3,5-cyclic nucleotide phosphodiesterase.

Phenotypes From GWAS Catalog for CALB1 Gene

Gene Ontology (GO) - Molecular Function for CALB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005499 vitamin D binding IEA --
GO:0005509 calcium ion binding IEA,IMP 18359862
GO:0005515 protein binding IPI 16763551
GO:0008270 zinc ion binding IMP 18359862
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with CALB1: view
genes like me logo Genes that share phenotypes with CALB1: view

Animal Models for CALB1 Gene

MGI Knock Outs for CALB1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for CALB1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for CALB1 Gene

Localization for CALB1 Gene

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 CALB1 gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 5
plasma membrane 2
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CALB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005634 nucleus IDA 16928804
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IBA,TAS --
GO:0030424 axon ISS --
genes like me logo Genes that share ontologies with CALB1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for CALB1 Gene

Pathways & Interactions for CALB1 Gene

genes like me logo Genes that share pathways with CALB1: view

Pathways by source for CALB1 Gene

2 Cell Signaling Technology pathways for CALB1 Gene
2 Reactome pathways for CALB1 Gene

Gene Ontology (GO) - Biological Process for CALB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007611 learning or memory IEA --
GO:0007614 short-term memory IMP 22796338
GO:0007616 long-term memory IMP 22796338
GO:0007626 locomotory behavior IEA --
GO:0010842 retina layer formation IEA --
genes like me logo Genes that share ontologies with CALB1: view

No data available for SIGNOR curated interactions for CALB1 Gene

Drugs & Compounds for CALB1 Gene

(30) Drugs for CALB1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Citrate Approved Pharma Carrier, substrate 0
Calcium Phosphate Approved Pharma Carrier, substrate 0
calcium Nutra 0

(14) Additional Compounds for CALB1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CALB1: view

Transcripts for CALB1 Gene

Unigene Clusters for CALB1 Gene

Calbindin 1, 28kDa:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for CALB1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for CALB1 Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b
SP1: - - - - -
SP2: - - -
SP3: -
SP4:
SP5:

Relevant External Links for CALB1 Gene

GeneLoc Exon Structure for
CALB1
ECgene alternative splicing isoforms for
CALB1

Expression for CALB1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CALB1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CALB1 Gene

This gene is overexpressed in Brain - Nucleus accumbens (basal ganglia) (x9.9), Brain - Caudate (basal ganglia) (x8.5), Kidney - Cortex (x6.5), Brain - Cerebellum (x6.3), and Brain - Putamen (basal ganglia) (x6.1).

Protein differential expression in normal tissues from HIPED for CALB1 Gene

This gene is overexpressed in Kidney (39.5) and Retina (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CALB1 Gene



NURSA nuclear receptor signaling pathways regulating expression of CALB1 Gene:

CALB1

SOURCE GeneReport for Unigene cluster for CALB1 Gene:

Hs.65425

Evidence on tissue expression from TISSUES for CALB1 Gene

  • Nervous system(5)
  • Kidney(4.8)
  • Lung(4.3)
  • Eye(3)
  • Intestine(2.5)
genes like me logo Genes that share expression patterns with CALB1: view

Primer Products

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CALB1 Gene

Orthologs for CALB1 Gene

This gene was present in the common ancestor of animals.

Orthologs for CALB1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CALB1 33 34
  • 99.87 (n)
oppossum
(Monodelphis domestica)
Mammalia CALB1 34
  • 95 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CALB1 33 34
  • 93.87 (n)
dog
(Canis familiaris)
Mammalia CALB1 33 34
  • 93.87 (n)
mouse
(Mus musculus)
Mammalia Calb1 33 16 34
  • 92.46 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CALB1 34
  • 92 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Calb1 33
  • 91.32 (n)
chicken
(Gallus gallus)
Aves CALB1 33 34
  • 78.85 (n)
lizard
(Anolis carolinensis)
Reptilia CALB1 34
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia calb1 33
  • 75.77 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.459 33
zebrafish
(Danio rerio)
Actinopterygii calb1 33 34
  • 69.78 (n)
fruit fly
(Drosophila melanogaster)
Insecta Cbp53E 35 34
  • 44 (a)
Species where no ortholog for CALB1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 CALB1 Gene

ENSEMBL:
Gene Tree for CALB1 (if available)
TreeFam:
Gene Tree for CALB1 (if available)

Paralogs for CALB1 Gene

Paralogs for CALB1 Gene

(2) SIMAP similar genes for CALB1 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with CALB1: view

Variants for CALB1 Gene

Sequence variations from dbSNP and Humsavar for CALB1 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs1000105954 -- 90,070,645(+) GGAAA(A/G)GGCCA intron-variant
rs1000139972 -- 90,084,179(+) AGGTC(A/C)CGAGA upstream-variant-2KB
rs1000232194 -- 90,061,108(+) GTGAC(A/C/G)TCACA intron-variant
rs1000249 -- 90,060,266(+) GTTGT(A/G)ATATT reference, synonymous-codon
rs1000291553 -- 90,068,044(+) GTAGG(G/T)TCTTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CALB1 Gene

Variant ID Type Subtype PubMed ID
esv2759628 CNV gain+loss 17122850

Variation tolerance for CALB1 Gene

Residual Variation Intolerance Score: 24.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.33; 7.41% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CALB1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CALB1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CALB1 Gene

Disorders for CALB1 Gene

MalaCards: The human disease database

(14) MalaCards diseases for CALB1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
huntington disease
  • huntington's disease
temporal lobe epilepsy
  • epilepsy, temporal lobe
breast fibrosarcoma
  • fibrosarcoma of the breast
synucleinopathy
  • alpha synucleinopathies
status epilepticus
  • gcse
- elite association - COSMIC cancer census association via MalaCards
Search CALB1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for CALB1

Genetic Association Database (GAD)
CALB1
Human Genome Epidemiology (HuGE) Navigator
CALB1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CALB1
genes like me logo Genes that share disorders with CALB1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CALB1 Gene

Publications for CALB1 Gene

  1. Calbindin-1 association and Parkinson's disease. (PMID: 19674066) Soto-Ortolaza AI … Ross OA (European journal of neurology 2010) 3 22 45 60
  2. Calbindin 1, fibroblast growth factor 20, and alpha-synuclein in sporadic Parkinson's disease. (PMID: 18568448) Mizuta I … Toda T (Human genetics 2008) 3 22 45 60
  3. Calbindin positive Purkinje cells in the pathology of human cerebellum occurring at the time of its development. (PMID: 20054781) Laure-Kamionowska M … Maślińska D (Folia neuropathologica 2009) 3 22 60
  4. Zn2+ binding to human calbindin D(28k) and the role of histidine residues. (PMID: 18359862) Bauer MC … Linse S (Protein science : a publication of the Protein Society 2008) 3 22 60
  5. New insights into the function and regulation of vitamin D target proteins. (PMID: 17257825) Christakos S … Shen Q (The Journal of steroid biochemistry and molecular biology 2007) 3 22 60

Products for CALB1 Gene

Sources for CALB1 Gene

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