Calbindin 1

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]

CALB1
Identifiers
Aliases	CALB1, CALB, D-28K, calbindin 1
External IDs	OMIM: 114050 MGI: 88248 HomoloGene: 21026 GeneCards: CALB1
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]
Gene ontology Molecular function • calcium ion binding • zinc ion binding • metal ion binding • GO:0001948 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 • axon • terminal bouton • neuronal cell body • dendrite • neuron projection • extracellular exosome • cell 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 • cellular protein metabolic process • 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
View/Edit Human View/Edit Mouse

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

1. GRCh38: Ensembl release 89: ENSG00000104327 - Ensembl, May 2017
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.
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. doi:10.1107/s2059798318011610. PMC 6173056. PMID 30289411.

Further reading

• 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+.
• 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.
• 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.