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    CALB1 calbindin 1 [ Homo sapiens (human) ]

    Gene ID: 793, updated on 12-Oct-2019

    Summary

    Official Symbol
    CALB1provided by HGNC
    Official Full Name
    calbindin 1provided by HGNC
    Primary source
    HGNC:HGNC:1434
    See related
    Ensembl:ENSG00000104327 MIM:114050
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CALB; D-28K
    Summary
    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]
    Expression
    Restricted expression toward kidney (RPKM 156.4) See more
    Orthologs

    Genomic context

    See CALB1 in Genome Data Viewer
    Location:
    8q21.3
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    109.20190905 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (90058608..90082879, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (91070836..91095107, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 13813 Neighboring gene 2,4-dienoyl-CoA reductase 1 Neighboring gene GATA motif-containing MPRA enhancer 124 Neighboring gene long intergenic non-protein coding RNA 534

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    calcium ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    calcium ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    calcium ion binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    calcium ion binding involved in regulation of postsynaptic cytosolic calcium ion concentration IEA
    Inferred from Electronic Annotation
    more info
     
    calcium ion binding involved in regulation of presynaptic cytosolic calcium ion concentration IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    vitamin D binding IEA
    Inferred from Electronic Annotation
    more info
     
    zinc ion binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Process Evidence Code Pubs
    cellular protein metabolic process TAS
    Traceable Author Statement
    more info
     
    cellular response to organic substance IEA
    Inferred from Electronic Annotation
    more info
     
    cochlea development IEA
    Inferred from Electronic Annotation
    more info
     
    locomotory behavior IEA
    Inferred from Electronic Annotation
    more info
     
    long-term memory IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    metanephric collecting duct development IEA
    Inferred from Electronic Annotation
    more info
     
    metanephric connecting tubule development IEA
    Inferred from Electronic Annotation
    more info
     
    metanephric distal convoluted tubule development IEA
    Inferred from Electronic Annotation
    more info
     
    metanephric part of ureteric bud development IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of long-term synaptic potentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    regulation of postsynaptic cytosolic calcium ion concentration IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of presynaptic cytosolic calcium ion concentration IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    retina layer formation IEA
    Inferred from Electronic Annotation
    more info
     
    short-term memory IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    GABA-ergic synapse IEA
    Inferred from Electronic Annotation
    more info
     
    axon IDA
    Inferred from Direct Assay
    more info
    PubMed 
    axon ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    calyx of Held IEA
    Inferred from Electronic Annotation
    more info
     
    cuticular plate IEA
    Inferred from Electronic Annotation
    more info
     
    cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    dendrite IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    dendrite IDA
    Inferred from Direct Assay
    more info
    PubMed 
    dendritic spine IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    extracellular exosome HDA PubMed 
    glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
     
    hippocampal mossy fiber to CA3 synapse IEA
    Inferred from Electronic Annotation
    more info
     
    neuron projection IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    neuronal cell body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    postsynaptic cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    presynaptic cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    stereocilium IEA
    Inferred from Electronic Annotation
    more info
     
    synapse IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    calbindin
    Names
    RTVL-H protein
    calbindin 1, (28kD)
    calbindin 1, 28kDa
    calbindin 27
    calbindin D28
    vitamin D-dependent calcium-binding protein, avian-type

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001366795.1NP_001353724.1  calbindin isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC004612, AC123779
      Conserved Domains (2) summary
      cd15902
      Location:1644
      EFh_HEF; EF-hand motif [structural motif]
      cl23634
      Location:16234
      EFh_HEF; EF-hand, calcium binding motif, found in the hexa-EF hand proteins family
    2. NM_004929.4NP_004920.1  calbindin isoform 1

      See identical proteins and their annotated locations for NP_004920.1

      Status: REVIEWED

      Source sequence(s)
      BC020864, BX537530
      Consensus CDS
      CCDS6251.1
      UniProtKB/Swiss-Prot
      P05937
      Related
      ENSP00000265431.3, ENST00000265431.7
      Conserved Domains (1) summary
      cd16176
      Location:16259
      EFh_HEF_CB; EF-hand, calcium binding motif, found in calbindin (CB)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

      Range
      90058608..90082879 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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