Alternative titles; symbols
HGNC Approved Gene Symbol: CALB1
Cytogenetic location: 8q21.3 Genomic coordinates (GRCh38): 8:90,058,608-90,082,879 (from NCBI)
Calbindin is a calcium-binding protein belonging to the troponin C superfamily (see 191040) (Parmentier et al., 1987).
Parmentier et al. (1987) selected human 28-kD calbindin cDNA clones by antibody screening of lambda-gt11 brain libraries. The sequence showed an open reading frame coding for a protein of 261 amino acids, containing 4 active calcium-binding domains, and 2 modified domains that presumably have lost their calcium-binding capacity. The preliminary data suggested that the 29-kD protein in brain is encoded by a different gene. Calbindin was originally described as a 27-kD protein induced by vitamin D in the duodenum of the chick. Calbindin immunoreactivity was further detected by radioimmunoassay and immunohistochemistry in the kidney, pancreatic islets, and brain. In the brain, its synthesis is independent of vitamin-D-derived hormones. Two different proteins presenting calbindin immunoreactivity, one of molecular mass 27 kD (now known to be 28 kD) and the other of 29 kD (CALB2; 114051), were identified in the central nervous system. Both molecular species are present in the brain of all vertebrates except fish (Parmentier et al., 1987).
Parmentier et al. (1989) cloned and sequenced the 5-prime and 3-prime regions of the calbindin 28-kD gene.
Parmentier et al. (1989) assigned the 28-kD calbinin gene to chromosome 8 using human-rodent hybrid cell lines.
By Southern analysis of somatic cell hybrids and in situ hybridization, Modi et al. (1991) assigned the CALB1 gene to 8p12-q11.2 Parmentier et al. (1991) mapped the CALB1 gene to 8q21.3-q22.1 by in situ hybridization. At the same time, they mapped the CALB2 gene, called by them calretinin, to 16q22-q23, also by in situ hybridization. These localizations matched the chromosomal regions where the carbonic anhydrase isozyme gene cluster (CA1, 114800; CA2, 611492; CA3, 114750) and the related gene CA7 (114770) have been mapped, respectively. This suggests that in evolution a common duplication of the calbindin/calretinin and carbonic anhydrase ancestral genes occurred.
By computer-assisted analysis of 5 BAC clones and an EST sequence, Tauchi et al. (1999) defined the genomic organization of an 800-kb region on chromosome 8q21 as 5-prime C8ORF1 (604598), 3-prime NBS1, 5-prime DECR1 (222745), and 3-prime CALB1.
By means of immunohistochemical methods, Seto-Ohshima et al. (1988) demonstrated a dearth of neurons containing calbindin in the brains of patients with Huntington disease (HD; 143100). Calbindin depletion was particularly notable in the neostriatum (caudate nucleus and putamen) of these patients.
Parmentier and Vassart (1988) described a HindIII RFLP of the calbindin 28-kilodalton gene.
Luu et al. (2004) found that Calb3 (302020) and Calb1 expression increased in mouse endometrial epithelium just before implantation but disappeared at implantation sites after attachment. By injecting morpholino oligonucleotides against Calb3 into wildtype and Calb1-null mice just before implantation, Luu et al. (2004) eliminated 1 or both proteins from the uterine epithelium. Implantation was blocked only when both Calb3 and Calb1 were absent: treated wildtype mice and untreated Calb1-null mice were fertile. Furthermore, the effect on implantation was highly dependent on the timing of morpholino oligonucleotide injection.
Luu, K. C., Nie, G. Y., Salamonsen, L. A. Endometrial calbindins are critical for embryo implantation: evidence from in vivo use of morpholino antisense oligonucleotides. Proc. Nat. Acad. Sci. 101: 8028-8033, 2004. [PubMed: 15138301] [Full Text: https://doi.org/10.1073/pnas.0401069101]
Modi, W. S., Dean, M., Pollock, D. D., Seuanez, H. N., Christakos, S. Chromosomal localization of the calbindin gene. (Abstract) Cytogenet. Cell Genet. 58: 1930 only, 1991.
Parmentier, M., De Vijlder, J. J. M., Muir, E., Szpirer, C., Islam, M. Q., Geurts van Kessel, A., Lawson, D. E. M., Vassart, G. The human calbindin 27 kDa gene: structural organization of the 5-prime and 3-prime regions, chromosomal assignment and restriction fragment length polymorphism. Genomics 4: 309-319, 1989. [PubMed: 2565876] [Full Text: https://doi.org/10.1016/0888-7543(89)90335-2]
Parmentier, M., Lawson, D. E. M., Vassart, G. Human 27-kDa calbindin complementary DNA sequence: evolutionary and functional implications. Europ. J. Biochem. 170: 207-215, 1987. [PubMed: 3691519] [Full Text: https://doi.org/10.1111/j.1432-1033.1987.tb13688.x]
Parmentier, M., Passage, E., Vassart, G., Mattei, M.-G. The human calbindin D28k (CALB1) and calretinin (CALB2) genes are located at 8q21.3-q22.1 and 16q22-q23, respectively, suggesting a common duplication with the carbonic anhydrase isozyme loci. Cytogenet. Cell Genet. 57: 41-43, 1991. [PubMed: 1906795] [Full Text: https://doi.org/10.1159/000133111]
Parmentier, M., Vassart, G. HindIII RFLP on chromosome 8 detected with a calbindin 27 kDa cDNA probe, HBSC21. Nucleic Acids Res. 16: 9373 only, 1988. [PubMed: 2902600] [Full Text: https://doi.org/10.1093/nar/16.19.9373]
Seto-Ohshima, A., Emson, P. C., Lawson, E., Mountjoy, C. Q., Carrasco, L. H. Loss of matrix calcium-binding protein-containing neurons in Huntington's disease. Lancet 331: 1252-1254, 1988. Note: Originally Volume I. [PubMed: 2897519] [Full Text: https://doi.org/10.1016/s0140-6736(88)92073-9]
Tauchi, H., Matsuura, S., Isomura, M., Kinjo, T., Nakamura, A., Sakamoto, S., Kondo, N., Endo, S., Komatsu, K., Nakamura, Y. Sequence analysis of an 800-kb genomic DNA region on chromosome 8q21 that contains the Nijmegen breakage syndrome gene, NBS1. Genomics 55: 242-247, 1999. [PubMed: 9933573] [Full Text: https://doi.org/10.1006/geno.1998.5657]