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CALB1 Gene

protein-coding   GIFtS: 61
GCID: GC08M091070

Calbindin 1, 28kDa


(Previous symbol: CALB)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Calbindin 1, 28kDa1 2     calbindin2
CALB1 2     Calbindin 1, (28kD)2
Calbindin D282 3     RTVL-H Protein2
Vitamin D-Dependent Calcium-Binding Protein, Avian-Type2 3     CAB273
D-28K2 3     

External Ids:    HGNC: 14341   Entrez Gene: 7932   Ensembl: ENSG000001043277   OMIM: 1140505   UniProtKB: P059373   

Export aliases for CALB1 gene to outside databases

Previous GC identifers: GC08M089502 GC08M090803 GC08M091027 GC08M091140 GC08M086281


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for CALB1 Gene:
Calbindin is a calcium-binding protein belonging to the troponin C superfamily. It was originally described as a
27-kD protein induced by vitamin D in the duodenum of the chick. In the brain, its synthesis is independent of
vitamin-D-derived hormones. Calbindin contains 4 active calcium-binding domains, and 2 modified domains that
presumably have lost their calcium-binding capacity. The neurons in brains of patients with Huntington disease
are calbindin-depleted. (provided by RefSeq, Jul 2008)

GeneCards Summary for CALB1 Gene:
CALB1 (calbindin 1, 28kDa) is a protein-coding gene. Diseases associated with CALB1 include placental insufficiency, and dominant optic atrophy. GO annotations related to this gene include vitamin D binding and calcium ion binding. An important paralog of this gene is SCGN.

UniProtKB/Swiss-Prot: CALB1_HUMAN, P05937
Function: Buffers cytosolic calcium. May stimulate a membrane Ca(2+)-ATPase and a 3',5'-cyclic nucleotide
phosphodiesterase




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000008.11  NC_018919.2  NT_008046.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the CALB1 gene promoter:
         NRSF form 1   NRSF form 2   C/EBPalpha   CHOP-10   Nkx6-1   POU2F1b   POU2F1a   POU2F1c   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCALB1 promoter sequence
   Search Chromatin IP Primers for CALB1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CALB1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 8q21.3   Ensembl cytogenetic band:  8q21.3   HGNC cytogenetic band: 8q21.3

CALB1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CALB1 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08M091070:  view genomic region     (about GC identifiers)

Start:
91,070,836 bp from pter      End:
91,107,703 bp from pter
Size:
36,868 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CALB1_HUMAN, P05937 (See protein sequence)
Recommended Name: Calbindin  
Size: 261 amino acids; 30025 Da
Subunit: Interacts with RANBP9
Secondary accessions: B2R696

Explore the universe of human proteins at neXtProt for CALB1: NX_P05937

Explore proteomics data for CALB1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See CALB1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_004920.1  
    ENSEMBL proteins: 
     ENSP00000265431   ENSP00000429602   ENSP00000429246   ENSP00000430281   ENSP00000430192  

    CALB1 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for CALB1
    OriGene Protein Over-expression Lysate for CALB1
    OriGene MassSpec for CALB1
    OriGene Custom Protein Services for CALB1
    GenScript Custom Purified and Recombinant Proteins Services for CALB1
    Novus Biologicals CALB1 Proteins
    Novus Biologicals CALB1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for CALB1
    Browse Proteins at Cloud-Clone Corp.

    CALB1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of CALB1
    Browse R&D Systems for Antibodies
    Cell Signaling Technology (CST) Antibodies for CALB1 
    OriGene Antibodies for CALB1
    OriGene Custom Antibody Services for CALB1
    Novus Biologicals CALB1 Antibodies
    Abcam antibodies for CALB1
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibodies for CALB1
    LSBio Antibodies in human, mouse, rat for CALB1

    CALB1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for CALB1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for CALB1
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    EFHAND: EF-hand domain containing

    3 InterPro protein domains:
     IPR011992 EF-hand-dom_pair
     IPR002048 EF_hand_dom
     IPR018247 EF_Hand_1_Ca_BS

    Graphical View of Domain Structure for InterPro Entry P05937

    ProtoNet protein and cluster: P05937

    UniProtKB/Swiss-Prot: CALB1_HUMAN, P05937
    Domain: This protein has four functional calcium-binding sites; potential sites II and VI have lost affinity for
    calcium
    Similarity: Belongs to the calbindin family
    Similarity: Contains 5 EF-hand domains


    CALB1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CALB1_HUMAN, P05937
    Function: Buffers cytosolic calcium. May stimulate a membrane Ca(2+)-ATPase and a 3',5'-cyclic nucleotide
    phosphodiesterase

         Genatlas biochemistry entry for CALB1:
    calbindin (28kDa),vitamin D dependent calcium binding protein 1,from the intestine

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005499vitamin D binding IEA--
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding IPI16763551
         
    CALB1 for ontologies           About GeneDecksing


    Phenotypes:
         4 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Calb1):
     behavior/neurological  hearing/vestibular/ear  nervous system  normal 

    CALB1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Calb1tm1Mpin for CALB1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CALB1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CALB1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CALB1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CALB1

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat CALB1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CALB1 (see all 39):
    hsa-miR-193a-3p hsa-miR-4254 hsa-miR-24-1* hsa-miR-4305 hsa-miR-301a hsa-miR-186 hsa-miR-376c hsa-miR-130b
    SwitchGear 3'UTR luciferase reporter plasmidCALB1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for CALB1
    Predesigned siRNA for gene silencing in human, mouse, rat CALB1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for CALB1

    Clone
    Products:
         
    OriGene clones in human, mouse for CALB1 (see all 6)
    OriGene ORF clones in mouse, rat for CALB1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CALB1 (NM_004929)
    Sino Biological Human cDNA Clone for CALB1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CALB1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CALB1

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for CALB1
    Browse ESI BIO Cell Lines and PureStem Progenitors for CALB1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CALB1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytoskeleton3
    cytosol3
    endoplasmic reticulum2
    mitochondrion2
    plasma membrane2
    extracellular1

    Gene Ontology (GO): Selected cellular component terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005634nucleus IDA16928804
    GO:0005737cytoplasm ----
    GO:0005829cytosol IEA--
    GO:0030424axon ISS--

    CALB1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for CALB1 About    
    See pathways by source

    SuperPathContained pathways About
    1Transcription Role of VDR in regulation of genes involved in osteoporosis
    Transcription Role of VDR in regulation of genes involved in osteoporosis
    2Neuroscience
    Neuroscience
    3Endocrine and other factor-regulated calcium reabsorption
    Endocrine and other factor-regulated calcium reabsorption
    4Ca, cAMP and Lipid Signaling
    Ca, cAMP and Lipid Signaling

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 Cell Signaling Technology (CST) Pathways for CALB1
        Ca, cAMP and Lipid Signaling
    Neuroscience

    1 GeneGo (Thomson Reuters) Pathway for CALB1
        Transcription Role of VDR in regulation of genes involved in osteoporosis



    1 Kegg Pathway  (Kegg details for CALB1):
        Endocrine and other factor-regulated calcium reabsorption


    CALB1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including CALB1: 
              cAMP / Ca2+ Signaling PathwayFinder in human mouse rat
              Nephrotoxicity in human mouse rat
              Huntington's Disease in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for CALB1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 22)

    Selected Interacting proteins for CALB1 (P059371, 2, 3 ENSP000002654314) via UniProtKB, MINT, STRING, and/or I2D (see all 23)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TRPV5Q9NQA51, 2, 3, ENSP000002653104EBI-4286943,EBI-1053443 MINT-2834893 MINT-2834584 MINT-2834867 MINT-2834926 I2D: score=2 STRING: ENSP00000265310
    TRPV6Q9H1D02, 3, ENSP000003523584MINT-2834911 I2D: score=2 STRING: ENSP00000352358
    IKBKGQ9Y6K91, 3, ENSP000003586224EBI-4286943,EBI-81279 I2D: score=1 STRING: ENSP00000358622
    RANBP9Q96S593, ENSP000000116194I2D: score=2 STRING: ENSP00000011619
    CACNA1DQ016683, ENSP000002881394I2D: score=1 STRING: ENSP00000288139
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007611learning or memory IEA--
    GO:0007626locomotory behavior IEA--
    GO:0010842retina layer formation IEA--
    GO:0035502metanephric part of ureteric bud development IEA--
    GO:0048167regulation of synaptic plasticity IEA--

    CALB1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CALB1

    1 HMDB Compound for CALB1    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    Selected Novoseek inferred chemical compound relationships for CALB1 gene (see all 42)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    gaba 65.3 47 16144628 (3), 2268180 (2), 17408434 (2), 1601089 (2) (see all 26)
    calcium 60.4 138 1539638 (4), 9930735 (4), 15225809 (3), 8836530 (3) (see all 77)
    choline 54.4 18 10392842 (2), 11512670 (1), 10996158 (1), 11079716 (1) (see all 17)
    happ 50.6 3 16237173 (1), 16237174 (1)
    glutamate 48.8 24 11489442 (3), 14729126 (2), 9169536 (1), 15088712 (1) (see all 21)
    vitamin d 44 11 1624101 (2), 15225809 (1), 2268180 (1), 2344392 (1) (see all 8)
    1,25 dihydroxy vitamin d3 40.2 2 1646742 (2)
    quinolinic acid 38.6 11 7777157 (3), 10392842 (3), 7523988 (3)
    tyrosine 38.4 29 17376613 (2), 8576447 (2), 20383714 (2), 16738224 (2) (see all 24)
    nmda 34.4 10 9930735 (3), 7777157 (2), 9674563 (1), 15990326 (1)



    CALB1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for CALB1 gene: 
    NM_004929.2  

    Unigene Cluster for CALB1:

    Calbindin 1, 28kDa
    Hs.65425  [show with all ESTs]
    Unigene Representative Sequence: BX537530
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000469032 ENST00000265431(uc011lge.1 uc003yel.1) ENST00000518457
    ENST00000497376 ENST00000522070 ENST00000523716(uc003yem.1) ENST00000520613
    ENST00000482702 ENST00000476853 ENST00000473670 ENST00000514406
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat CALB1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CALB1 (see all 39):
    hsa-miR-193a-3p hsa-miR-4254 hsa-miR-24-1* hsa-miR-4305 hsa-miR-301a hsa-miR-186 hsa-miR-376c hsa-miR-130b
    SwitchGear 3'UTR luciferase reporter plasmidCALB1 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for CALB1
    Predesigned siRNA for gene silencing in human, mouse, rat CALB1
    Clone
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    OriGene clones in human, mouse for CALB1 (see all 6)
    OriGene ORF clones in mouse, rat for CALB1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CALB1 (NM_004929)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CALB1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CALB1
    Primer
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    OriGene qPCR primer pairs and template standards for CALB1
    OriGene qSTAR qPCR primer pairs in human, mouse for CALB1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CALB1
      QuantiTect SYBR Green Assays in human, mouse, rat CALB1
      QuantiFast Probe-based Assays in human, mouse, rat CALB1

    Additional mRNA sequence: 

    AK054881.1 AK295585.1 AK312491.1 AK315959.1 BC006478.1 BC020864.1 BX537530.1 S46006.1 
    X06661.1 

    6 DOTS entries:

    DT.95173951  DT.412786  DT.100667391  DT.97840993  DT.40114745  DT.102822674 

    Selected AceView cDNA sequences (see all 153):

    CB138739 AW044445 CB109104 F07051 F01934 AI421936 BC006478 BX537530 
    AA894722 AI795912 X06661 BM763570 CB134794 CB136111 BE326933 AA886660 
    BM849730 CB135574 AW250744 BX503716 BM842038 AI222505 BI821325 AI222700 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for CALB1    About this scheme

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


    ECgene alternative splicing isoforms for CALB1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CALB1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGTTGCAAAT
    CALB1 Expression
    About this image


    CALB1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 12) fully expand
     
     Brain (Nervous System)    fully expand to see all 8 entries
             Adult Dopaminergic Neurons Ventral Tegmental Area
             Midbrain tegmentum
             Ventral midbrain dopaminergic-like neurons
     
     Neurons
             Mature Horizontal Cells Inner Nuclear Layer
             Ventral midbrain dopaminergic-like neurons
     
     Dopaminergic Neurons (Nervous System)    fully expand to see all 3 entries
             Ventral midbrain dopaminergic-like neurons
     
     Neural Tube (Nervous System)    fully expand to see all 6 entries
             Metencephalon
     
     Kidney (Urinary System)    fully expand to see all 5 entries
             Ureteric Bud Cells Ureteric Bud
             Metanephros
    CALB1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CALB1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.65425
        Pathway & Disease-focused RT2 Profiler PCR Arrays including CALB1: 
              cAMP / Ca2+ Signaling PathwayFinder in human mouse rat
              Nephrotoxicity in human mouse rat
              Huntington's Disease in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for CALB1
    OriGene qSTAR qPCR primer pairs in human, mouse for CALB1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CALB1
    QuantiTect SYBR Green Assays in human, mouse, rat CALB1
    QuantiFast Probe-based Assays in human, mouse, rat CALB1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CALB1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for CALB1 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Calb11 , 5 calbindin 11, 5 92.46(n)1
    98.47(a)1
      4 (6.66 cM)5
    123071  NM_009788.41  NP_033918.11 
     158812645 
    chicken
    (Gallus gallus)
    Aves CALB11 calbindin 1, 28kDa 78.85(n)
    79.62(a)
      396519  NM_205513.1  NP_990844.1 
    lizard
    (Anolis carolinensis)
    Reptilia CALB16
    calbindin 1, 28kDa
    75(a)
    1 ↔ 1
    4(21412363-21443997)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.4592 Xenopus laevis calbindin D28k mRNA, complete cds 81.38(n)    U76636.1 
    zebrafish
    (Danio rerio)
    Actinopterygii calb11 calbindin 1 69.78(n)
    70.43(a)
      100001650  XM_001341568.2  XP_001341604.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Cbp53E3 calcium ion homeostasis calcium ion
    binding
    44(a)   53E4   --


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CALB1 gene
    SCGN2  CALB22  
    2 SIMAP similar genes for CALB1 using alignment to 5 protein entries:     CALB1_HUMAN (see all proteins):
    CALB2    SCGN

    CALB1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CALB1 (see all 512)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1904284931,2
    --91231053(+) AGTTAA/GCTGGG 1 -- ds50010--------
    rs69856611,2
    C,F--91231067(+) ggtggC/Tgggca 1 -- ds50011Minor allele frequency- T:0.00NA 2
    rs1819120261,2
    --91231114(+) GAATCA/GCTTGA 1 -- ds50010--------
    rs1870632141,2
    --91231148(+) GAGCCA/GAGACC 1 -- ds50010--------
    rs715287391,2
    C,F--91231194(+) ATTCCA/GTCTTG 1 -- ds50015Minor allele frequency- G:0.28NA CSA EA 246
    rs1420349251,2
    --91231358(+) TTTACA/GTTTAT 1 -- ds50010--------
    rs788679831,2
    C,F--91231371(+) AGATTC/ACTTAG 1 -- ds50011Minor allele frequency- A:0.08EA 120
    rs797103271,2
    C--91231418(+) CATCAA/TAGATT 1 -- ds50010--------
    rs18058711,2
    C,F,O,A,H--91231419(+) ATCATA/GGATTG 1 -- ds500123Minor allele frequency- N:0.00NS EA NA WA CSA 1430
    rs1910783411,2
    --91231578(+) TGTTGA/GATTTT 1 -- ut310--------

    HapMap Linkage Disequilibrium report for CALB1 (91070836 - 91107703 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for CALB1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv891183CNV Gain21882294
    essv1701CNV CNV17122850
    essv345CNV CNV17122850

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 114050    OMIM disorders: --

    Selected diseases for CALB1 (see all 50):    
    About MalaCards
    placental insufficiency    dominant optic atrophy    thyroid medullary carcinoma    tuberous sclerosis complex
    subependymal giant cell astrocytoma    endometritis    adenomyosis    labyrinthitis
    huntington's disease    neuronal migration disorders    toxic encephalopathy    status epilepticus
    acquired immunodeficiency syndrome    olivopontocerebellar atrophy    temporal lobe epilepsy    ganglioglioma
    tuberous sclerosis    febrile seizures    optic atrophy    clear cell renal cell carcinoma

    3 diseases from the University of Copenhagen DISEASES database for CALB1:
    Neurodegenerative disease     Brain disease     Schizophrenia

    CALB1 for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for CALB1 gene (see all 23)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    huntington disease 48.9 8 7777157 (6), 7678366 (1), 15990326 (1)
    epilepsy temporal lobe 42.4 2 9015323 (1), 10805100 (1)
    neuron loss 41.6 1 19399237 (1)
    gliosis 40.4 2 11153665 (1), 8930964 (1)
    hiv encephalitis 36.2 1 7745434 (1)
    neurodegeneration 35.4 2 15043712 (1), 15525338 (1)
    schizophrenia 34.7 11 12372661 (2), 14751422 (1), 8771223 (1), 15927548 (1) (see all 5)
    neuropathology 27.5 1 11153665 (1)
    alzheimers disease 22.4 5 1999232 (2), 8515868 (1), 11679085 (1), 8309638 (1)
    parkinson disease 20.2 7 10430829 (1), 18568448 (1), 15181237 (1), 1382801 (1) (see all 7)

    Genetic Association Database (GAD): CALB1
    Human Genome Epidemiology (HuGE) Navigator: CALB1 (2 documents)

    Export disorders for CALB1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for CALB1 gene, integrated from 10 sources (see all 402):
    (articles sorted by number of sources associating them with CALB1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Calbindin 1, fibroblast growth factor 20, and alpha-synuclein in sporadic Parkinson's disease. (PubMed id 18568448)1, 4, 9 Mizuta I....Toda T. (Hum. Genet. 2008)
    2. Calbindin-1 association and Parkinson's disease. (PubMed id 19674066)1, 4, 9 Soto-Ortolaza A.I....Ross O.A. (Eur. J. Neurol. 2010)
    3. DNA sequence and analysis of human chromosome 8. (PubMed id 16421571)1, 2 Nusbaum C....Lander E.S. (Nature 2006)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    6. Calbindin D28K interacts with Ran-binding protein M: identification of interacting domains by NMR spectroscopy. (PubMed id 12684061)1, 2 Lutz W.... Kumar R. (Biochem. Biophys. Res. Commun. 2003)
    7. The human calbindin 27-kDa gene: structural organization of the 5' and 3' regions, chromosomal assignment, and restriction fragment length polymorphism. (PubMed id 2565876)1, 2 Parmentier M.... Vassart G. (Genomics 1989)
    8. Human 27-kDa calbindin complementary DNA sequence. Evolutionary and functional implications. (PubMed id 3691519)1, 2 Parmentier M.... Vassart G. (Eur. J. Biochem. 1987)
    9. Calbindin positive Purkinje cells in the pathology of human cerebellum occurring at the time of its development. (PubMed id 20054781)1, 9 Laure-Kamionowska M. and MaA9liA8ska D. (Folia Neuropathol 2009)
    10. Myo-inositol monophosphatase is an activated target of calbindin D28k. (PubMed id 12176979)1, 9 Berggard T....Linse S. (J. Biol. Chem. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 793 HGNC: 1434 AceView: CALB1 Ensembl:ENSG00000104327 euGenes: HUgn793
    ECgene: CALB1 Kegg: 793 H-InvDB: CALB1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for CALB1 Pharmacogenomics, SNPs, Pathways
    Wikipedia http://en.wikipedia.org/wiki/Calbindin

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CALB1 gene:
    Search GeneIP for patents involving CALB1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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