Alternative titles; symbols
HGNC Approved Gene Symbol: NIPSNAP1
Cytogenetic location: 22q12.2 Genomic coordinates (GRCh38): 22:29,554,808-29,581,113 (from NCBI)
A hypothetical protein encoded by C. elegans chromosome III contains a 4-nitrophenylphosphatase (NIP)-like domain and a nonneuronal SNAP25 (600322)-like domain flanking a central region. Seroussi et al. (1998) stated that several lines of evidence suggest that these 3 domains are encoded by a polycistronic operon rather than a single gene. They designated the central domain NIPSNAP to reflect its position between the NIP- and SNAP25-like regions. By sequence analysis of cloned genomic DNA from 22q12 and of ESTs corresponding to that region, Seroussi et al. (1998) identified a novel human gene encoding a protein with strong sequence similarity to NIPSNAP. The predicted 284-amino acid protein, which they called NIPSNAP1, shares 94% sequence identity with the mouse ortholog, Nipsnap1. Northern blot analysis revealed that NIPSNAP1 is expressed ubiquitously as a 2.1-kb mRNA, with the highest level in liver. The authors determined that the NIPSNAP1 gene contains 10 exons and spans 26 kb.
Using RT-PCR, Schoeber et al. (2008) detected variable Nipsnap1 expression in all mouse tissues examined except spleen. Immunohistochemical analysis of kidney sections detected Nipsnap1 in the inner medulla collecting ducts. Coprecipitation, protein pull-down, and functional assays showed that Nipsnap1 interacted with Trpv6 (606680) and regulated its channel activity. Electrophysiologic recordings revealed that Nipsnap1 abolished Trpv6 currents, but it did not alter the membrane localization of Trpv6.
Seroussi et al. (1998) found that the NIPSNAP1 gene is located between the NF2 (607379) and PK1.3 (THOC5; 612733) genes on chromosome 22q12.
Schoeber, J. P. H., Topala, C. N., Lee, K. P., Lambers, T. T., Ricard, G., van der Kemp, A. W. C. M., Huynen, M. A., Hoenderop, J. G. J., Bindels, R. J. M. Identification of Nipsnap1 as a novel auxiliary protein inhibiting TRPV6 activity. Pflugers Arch. 457: 91-101, 2008. [PubMed: 18392847] [Full Text: https://doi.org/10.1007/s00424-008-0494-5]
Seroussi, E., Pan, H.-Q., Kedra, D., Roe, B. A., Dumanski, J. P. Characterization of the human NIPSNAP1 gene from 22q12: a member of a novel gene family. Gene 212: 13-20, 1998. [PubMed: 9661659] [Full Text: https://doi.org/10.1016/s0378-1119(98)00098-5]