Alternative titles; symbols
HGNC Approved Gene Symbol: VSNL1
Cytogenetic location: 2p24.2 Genomic coordinates (GRCh38): 2:17,539,972-17,657,018 (from NCBI)
The visinin and visinin-like peptides represent a family of calcium-binding proteins that are highly expressed in the retina (Polymeropoulos et al., 1995).
Polymeropoulos et al. (1995) noted that visinin has been shown to be a cone cell-specific protein with a molecular weight of 24 kD. Several members of the visinin family of genes have been isolated and characterized from different species. These peptides are believed to be involved in the processes of phototransduction. The recoverin gene (RCV1; 179618) is believed to be involved in the pathophysiology of retinopathy in cancer patients. In the course of isolation and sequence analysis of human cDNAs containing microsatellite repeats, Polymeropoulos et al. (1995) isolated a human homolog of the rat visinin-like peptide gene. The human gene showed a high degree of conservation at both the amino acid and the DNA sequence level when compared with the rat gene. The (CA)n microsatellite repeat embedded in the 3-prime untranslated region of the gene was conserved between rat and human, along with the flanking DNA sequences.
Kobayashi et al. (1998) cloned VSNL1, which they called HLP3, from a human hippocampus cDNA library. The deduced 191-amino acid protein contains 4 EF-hand calcium-binding motifs and has a calculate molecular mass of 22 kD. It shares 66% and 98% amino acid identity with human hippocalcin (HPCA; 142622) and rat Nvp1, respectively. Northern blot analysis of human tissues detected 2.4- and 1.8-kb HLP3 transcripts in brain only, with highest expression in cerebral cortex and cerebellum.
By genetic linkage studies in 11 CEPH families, Polymeropoulos et al. (1995) mapped the VSNL1 gene to chromosome 2p.
Gross (2021) mapped the VSNL1 gene to chromosome 2p24.2 based on an alignment of the VSNL1 sequence (GenBank BC022012) with the genomic sequence (GRCh38).
In a study of 211 cognitively normal controls, 98 patients with early symptomatic Alzheimer disease (AD; 104300), and 19 individuals with other forms of dementia, Tarawneh et al. (2011) found a significant difference in CSF VILIP1 levels, with higher levels in AD compared to the other 2 groups. CSF VILIP1 levels correlated with CSF tau (MAPT; 157140) and phosphorylated-tau181, and negatively correlated with brain volumes in AD. VILIP1 and VILIP1/beta-amyloid-42 (APP; 104760) predicted future cognitive impairment in the normal controls over the follow-up period. Importantly, this CSF ratio (VILIP1/beta-amyloid-42) predicted future cognitive impairment at least as well as tau/beta-amyloid-42 and p-tau181/beta-amyloid-42. VILIP1 is abundantly expressed in neurons and has been shown to be a marker of neuronal injury in brain injury models (Laterza et al., 2006). The findings of Tarawneh et al. (2011) suggested that CSF VILIP1 and VILIP1/beta-amyloid-42 may offer diagnostic utility for early AD and can predict future cognitive impairment in cognitively normal individuals.
Gross, M. B. Personal Communication. Baltimore, Md. 2/25/2021.
Kobayashi, M., Sakai, E., Furuta, Y., Takamatsu, K. Isolation of two human cDNAs, HLP3 and HLP4, homologous to the neuron-specific calcium-binding protein genes. DNA Seq. 9: 171-176, 1998. [PubMed: 10520747] [Full Text: https://doi.org/10.3109/10425179809072192]
Laterza, O. F., Modur, V. R., Crimmins, D. L., Olander, J. V., Landt, Y., Lee, J.-M., Ladenson, J. H. Identification of novel brain biomarkers. Clin. Chem. 52: 1713-1721, 2006. [PubMed: 16858073] [Full Text: https://doi.org/10.1373/clinchem.2006.070912]
Polymeropoulos, M. H., Ide, S., Soares, M. B., Lennon, G. G. Sequence characterization and genetic mapping of the human VSNL1 gene, a homologue of the rat visinin-like peptide RNVP1. Genomics 29: 273-275, 1995. [PubMed: 8530085] [Full Text: https://doi.org/10.1006/geno.1995.1244]
Tarawneh, R., D'Angelo, G., Macy, E., Xiong, C., Carter, D., Cairns, N. J., Fagan, A. M., Head, D., Mintun, M. A., Ladenson, J. H., Lee, J.-M., Morris, J. C., Holtzman, D. M. Visinin-like protein-1: diagnostic and prognostic biomarker in Alzheimer disease. Ann. Neurol. 70: 274-285, 2011. [PubMed: 21823155] [Full Text: https://doi.org/10.1002/ana.22448]