Alternative titles; symbols
HGNC Approved Gene Symbol: SEC14L1
Cytogenetic location: 17q25.2-q25.3 Genomic coordinates (GRCh38): 17:77,088,685-77,217,101 (from NCBI)
In the course of determining sequences of a large number of cDNA clones constructed from human fetal lung mRNA, Chinen et al. (1996) found a novel gene encoding a protein highly homologous to proteins of C. elegans and bearing some homology to one of the yeast secretory proteins, SEC14. The protein also shares homology with a retinal-binding protein of the Japanese flying squid (RALBP). The 3-prime untranslated region of the gene contains a highly polymorphic VNTR (variable number of tandem repeats) site. The gene includes an open reading frame of 2,145 bp encoding a 715-amino acid protein. Kalikin et al. (2001) identified a splice variant that produced a second SEC14L1 protein isoform with 4 additional terminal amino acids.
Chinen et al. (1996) identified both 5.5- and 3.5-kb SEC14L1 transcripts in all adult tissues tested as well as a 2.4-kb transcript with restricted expression in skeletal muscle. By Northern blot analysis, Kalikin et al. (2001) detected 5.5- and 3.0-kb transcripts in all adult and fetal tissues tested.
See also PTPN9 (600768).
Chinen et al. (1996) localized the SEC14L1 gene to 17q25.1-q25.2 by fluorescence in situ hybridization. Kalikin et al. (2001) more precisely localized the SEC14L1 gene within a genomic contig spanning a candidate breast and ovarian tumor suppressor gene region.
Kalikin et al. (2001) determined that the SEC14L1 gene consists of 18 exons ranging in size from 70 bp (exon 11) to 3,088 bp (exon 17) and spanning at least 58 kb of genomic DNA. Exon 17 contains a highly polymorphic VNTR and was present only in the larger ubiquitously expressed 5.5-kb transcript.
Chinen, K., Takahashi, E., Nakamura, Y. Isolation and mapping of a human gene (SEC14L), partially homologous to yeast SEC14, that contains a variable number of tandem repeats (VNTR) site in its 3-prime untranslated region. Cytogenet. Cell Genet. 73: 218-223, 1996. [PubMed: 8697811] [Full Text: https://doi.org/10.1159/000134342]
Kalikin, L. M., Bugeaud, E. M., Palmbos, P. L., Lyons, R. H., Jr., Petty, E. M. Genomic characterization of human SEC14L1 splice variants within a 17q25 candidate tumor suppressor gene region and identification of an unrelated embedded expressed sequence tag. Mammalian Genome 12: 925-929, 2001. [PubMed: 11707779] [Full Text: https://doi.org/10.1007/s00335-001-2073-3]