CALB1

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)
End	90,095,475 bp
Gene location ( Mouse)
Chr.	Chromosome 4 (mouse)
End	15,908,064 bp
RNA expression pattern
	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
	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
	793
	12307
	ENSG00000104327
	ENSMUSG00000028222
	P05937
	P12658
	NM_004929; NM_001366795
	NM_009788
	NP_004920; NP_001353724
	NP_033918
	Wikidata
View/Edit Human	View/Edit Mouse

Calbindin 1 is a protein that in humans is encoded by the CALB1 gene. It belongs to the calbindin family of calcium-binding proteins, along with calretinin (CALB2). ^[5]

Function

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

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000104327 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000028222 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Entrez Gene: Calbindin 1". Retrieved 2018-10-04.
^ Noble JW, Almalki R, Roe SM, Wagner A, Duman R, Atack JR (October 2018). "The X-ray structure of human calbindin-D28K: an improved model". Acta Crystallographica Section D. 74 (Pt 10): 1008–1014. Bibcode: 2018AcCrD..74.1008N. doi: 10.1107/s2059798318011610. PMC 6173056. PMID 30289411.

Tao L, Murphy ME, English AM (May 2002). "S-nitrosation of Ca(2+)-loaded and Ca(2+)-free recombinant calbindin D(28K) from human brain". Biochemistry. 41 (19): 6185–92. doi: 10.1021/bi015846+. PMID 11994015.
Berggard T, Szczepankiewicz O, Thulin E, Linse S (November 2002). "Myo-inositol monophosphatase is an activated target of calbindin D28k". J. Biol. Chem. 277 (44): 41954–9. doi: 10.1074/jbc.M203492200. PMID 12176979.
Belkacemi L, Gariépy G, Mounier C, Simoneau L, Lafond J (June 2003). "Expression of calbindin-D28k (CaBP28k) in trophoblasts from human term placenta". Biol. Reprod. 68 (6): 1943–50. doi: 10.1095/biolreprod.102.009373. PMID 12606474.
Cedervall T, Berggård T, Borek V, Thulin E, Linse S, Akerfeldt KS (January 2005). "Redox sensitive cysteine residues in calbindin D28k are structurally and functionally important". Biochemistry. 44 (2): 684–93. doi: 10.1021/bi049232r. PMID 15641794.
Vanbelle C, Halgand F, Cedervall T, Thulin E, Akerfeldt KS, Laprévote O, Linse S (April 2005). "Deamidation and disulfide bridge formation in human calbindin D28k with effects on calcium binding". Protein Sci. 14 (4): 968–79. doi: 10.1110/ps.041157705. PMC 2253450. PMID 15741335.
Valencia I, Legido A, Yelin K, Khurana D, Kothare SV, Katsetos CD (December 2006). "Anomalous inhibitory circuits in cortical tubers of human tuberous sclerosis complex associated with refractory epilepsy: aberrant expression of parvalbumin and calbindin-D28k in dysplastic cortex". J. Child Neurol. 21 (12): 1058–63. doi: 10.1177/7010.2006.00242. PMID 17156698. S2CID 36971471.
Vig PJ, Wei J, Shao Q, Hebert MD, Subramony SH, Sutton LT (June 2007). "Role of tissue transglutaminase type 2 in calbindin-D28k interaction with ataxin-1". Neurosci. Lett. 420 (1): 53–7. doi: 10.1016/j.neulet.2007.04.005. PMC 1949022. PMID 17442486.
Zhang C, Sun Y, Wang W, Zhang Y, Ma M, Lou Z (February 2008). "Crystallization and preliminary crystallographic analysis of human Ca 2+-loaded calbindin-D28k". Acta Crystallographica Section F. 64 (Pt 2): 133–6. doi: 10.1107/S1744309108001905. PMC 2374171. PMID 18259068.
Bauer MC, Nilsson H, Thulin E, Frohm B, Malm J, Linse S (April 2008). "Zn2+ binding to human calbindin D(28k) and the role of histidine residues". Protein Sci. 17 (4): 760–7. doi: 10.1110/ps.073381108. PMC 2271158. PMID 18359862.

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

This article on a gene on human chromosome 8 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000104327 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000028222 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] "Entrez Gene: Calbindin 1". Retrieved 2018-10-04.

[6] Noble JW, Almalki R, Roe SM, Wagner A, Duman R, Atack JR (October 2018). "The X-ray structure of human calbindin-D28K: an improved model". Acta Crystallographica Section D. 74 (Pt 10): 1008–1014. Bibcode: 2018AcCrD..74.1008N. doi: 10.1107/s2059798318011610. PMC 6173056. PMID 30289411.

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