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Calbindin 1

Protein-coding gene in the species Homo sapiens

CALB1
Identifiers
Aliases	CALB1, CALB, D-28K, calbindin 1
External IDs	OMIM: 114050; MGI: 88248; HomoloGene: 21026; GeneCards: CALB1; OMA:CALB1 - orthologs
Gene location (Human) Chr. Chromosome 8 (human)[1] Band 8q21.3 Start 90,058,608 bp[1] End 90,095,475 bp[1]
Gene location (Mouse) Chr. Chromosome 4 (mouse)[2] Band 4 A2|4 6.66 cM Start 15,881,264 bp[2] End 15,908,064 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in kidney tubule cerebellar vermis nucleus accumbens glomerulus metanephric glomerulus caudate nucleus human kidney right hemisphere of cerebellum renal medulla lateral nuclear group of thalamus Top expressed in molar cerebellar vermis lobe of cerebellum ventromedial nucleus mammillary body medial dorsal nucleus paraventricular nucleus of hypothalamus medial geniculate nucleus anterior amygdaloid area arcuate nucleus More reference expression data BioGPS n/a
Gene ontology Molecular function calcium ion binding zinc ion binding metal ion binding protein binding vitamin D binding calcium ion binding involved in regulation of presynaptic cytosolic calcium ion concentration calcium ion binding involved in regulation of postsynaptic cytosolic calcium ion concentration Cellular component cytoplasm cell body synapse intracellular anatomical structure axon terminal bouton neuronal cell body dendrite neuron projection extracellular exosome nucleus cytosol dendritic spine calyx of Held hippocampal mossy fiber to CA3 synapse postsynapse glutamatergic synapse GABA-ergic synapse presynaptic cytosol postsynaptic cytosol stereocilium cuticular plate Biological process cellular response to organic substance retina layer formation regulation of cytosolic calcium ion concentration calcium ion homeostasis locomotory behavior metanephric distal convoluted tubule development regulation of synaptic plasticity metanephric part of ureteric bud development long-term memory metanephric connecting tubule development retina development in camera-type eye short-term memory learning or memory metanephric collecting duct development regulation of presynaptic cytosolic calcium ion concentration regulation of long-term synaptic potentiation regulation of postsynaptic cytosolic calcium ion concentration cochlea development Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 793 12307 Ensembl ENSG00000104327 ENSMUSG00000028222 UniProt P05937 P12658 RefSeq (mRNA) NM_004929 NM_001366795 NM_009788 RefSeq (protein) NP_004920 NP_001353724 NP_033918 Location (UCSC) Chr 8: 90.06 – 90.1 Mb Chr 4: 15.88 – 15.91 Mb PubMed search [3] [4]
Wikidata
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Calbindin 1 is a protein that in humans is encoded by the CALB1 gene. It belongs to the calbindin familyofcalcium-binding proteins, along with calretinin (CALB2). ^[5]

Function[edit]

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.^[6] 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].

References[edit]

Further reading[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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