Alternative titles; symbols
HGNC Approved Gene Symbol: NVL
Cytogenetic location: 1q42.11 Genomic coordinates (GRCh38) : 1:224,227,345-224,330,172 (from NCBI)
Members of the AAA (ATPases associated with diverse cellular activities) family have 1 or 2 copies of a highly conserved, approximately 230-amino acid ATP-binding module that contains the Walker A and B motifs. By degenerate PCR and screening of a human kidney cDNA library, Germain-Lee et al. (1997) cloned cDNAs encoding nuclear VCP (601023)-like (NVL) protein, a novel member of the AAA family. The authors identified 2 cDNAs, which they designated NVL.1 and NVL.2, that appeared to represent alternatively spliced transcripts. NVL.2 contains a 74-bp insert near the 5-prime end that produces a frameshift, enabling a more 5-prime ATG to encode the initiating methionine. NVL.1 and NVL.2 encode 750- and 856-amino acid proteins, respectively, and the sequences of both are identical over the 750 C-terminal amino acids. Both proteins are hydrophilic without obvious membrane-spanning domains and contain 2 ATP-binding modules that are 51% identical. NVL shows greatest similarity to the VCP subfamily of AAA proteins, including 35% amino acid identity with porcine VCP. However, the authors noted that NVLp is not the human ortholog of porcine VCP. NVL.2, but not NVL.1, contains a SRC kinase phosphorylation consensus sequence. In vitro expression of NVL.2 produced 95- and 110-kD proteins; the 110-kD form is likely phosphorylated. NVL.1 is approximately 83 kD and is not phosphorylated. Northern blot analysis detected a 3.2-kb transcript in most human tissues, with the highest levels in heart, placenta, skeletal muscle, pancreas, and retina. Immunohistochemistry showed that NVL is localized to the cell nucleus. Germain-Lee et al. (1997) speculated that NVL is involved in an ATP-dependent nuclear process.
By somatic cell hybrid analysis and fluorescence in situ hybridization, Germain-Lee et al. (1997) mapped the NVL gene to chromosome 1q41-q42.2.
Germain-Lee, E. L., Obie, C., Valle, D. NVL: a new member of the AAA family of ATPases localized to the nucleus. Genomics 44: 22-34, 1997. [PubMed: 9286697] [Full Text: https://doi.org/10.1006/geno.1997.4856]