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CALB1 calbindin 1 [ Homo sapiens (human) ]

Gene ID: 793, updated on 7-Dec-2018

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 current GRCh38.p12 (GCF_000001405.38) 8 NC_000008.11 (90058608..90082881, 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 oxidative stress induced growth inhibitor family member 2 Neighboring gene nibrin 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat'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 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
 
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 cytosolic calcium ion concentration IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
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
 
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 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p12 Primary Assembly

    Range
    90058608..90082881 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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