U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination
    • Showing Current items.

    CALB1 calbindin 1 [ Homo sapiens (human) ]

    Gene ID: 793, updated on 11-Apr-2024

    Summary

    Official Symbol
    CALB1provided by HGNC
    Official Full Name
    calbindin 1provided by HGNC
    Primary source
    HGNC:HGNC:1434
    See related
    Ensembl:ENSG00000104327 MIM:114050; AllianceGenome:HGNC:1434
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    8q21.3
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (90058608..90082879, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (91182279..91206531, complement)
    105.20220307 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 MED14-independent group 3 enhancer GRCh37_chr8:90959982-90961181 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27608 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:90996459-90997255 Neighboring gene Sharpr-MPRA regulatory region 13813 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19350 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27609 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27610 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27611 Neighboring gene nibrin Neighboring gene uncharacterized LOC124901976 Neighboring gene 2,4-dienoyl-CoA reductase 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:91107580-91108779 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:91109970-91110642 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:91110643-91111314 Neighboring gene GATA motif-containing MPRA enhancer 124 Neighboring gene CRISPRi-validated cis-regulatory element chr8.2225 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:91227356-91227995 Neighboring gene long intergenic non-protein coding RNA 534 Neighboring gene uncharacterized LOC124901975 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27612 Neighboring gene uncharacterized LOC107986955

    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 PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

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

    General protein information

    Preferred Names
    calbindin
    Names
    RTVL-H protein
    calbindin 1, (28kD)
    calbindin 1, 28kDa
    calbindin 27
    calbindin D28
    calbindin-D28k
    vitamin D-dependent calcium-binding protein, avian-type

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      B2R696, B7Z9J4, 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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      91182279..91206531 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)