Alternative titles; symbols
HGNC Approved Gene Symbol: HDLBP
Cytogenetic location: 2q37.3 Genomic coordinates (GRCh38) : 2:241,227,291-241,315,672 (from NCBI)
High density lipoprotein-binding protein, also known as vigilin, is a 110-kD protein that specifically binds HDL molecules and may function in the removal of excess cellular cholesterol.
Plenz et al. (1994) used chick vigilin cRNA clones to isolate the cognate human gene. Only 1 mRNA species of 4.4 kb is transcribed from the human vigilin gene. The expression of the gene is under tissue-specific and developmental control. Vigilin is found in the cytoplasm in close association with the endoplasmic reticulum.
By somatic cell hybrid analysis and in situ hybridization, Xia et al. (1993) localized the HDLBP gene to human chromosome 2q37. LeBoeuf et al. (1994) mapped the murine homolog to proximal mouse chromosome 1.
Plenz et al. (1994) mapped the 5-prime and 3-prime regions of the human vigilin gene by Southern blot analysis of respective clones with synthetic oligonucleotides. The entire vigilin gene spanned a region of about 50 kb and was assigned to 2q36-q37.2 (FLpter value of 0.96 +/- 0.03) by fluorescence in situ hybridization. The vigilin gene is localized to a chromosomal region comprising a cluster of collagen genes (COL4A3, 120070; COL6A3, 120250) and the Waardenburg syndrome I locus (193500).
Kugler et al. (1996) reported that the human vigilin gene has 29 exons, thus outnumbering the chicken gene by 2 additional 5-prime exons. These additional exons, 1A and 1B, are alternatively though concurrently spliced to exon 1C which is homologous to the first exon of the chicken gene. None of the additional exons code for an N-terminal extension of vigilin, due to in-frame stop codons. Structural features of exon 1A, however, would allow the translation of the 13-amino acid peptide from an upstream open reading frame preceding the vigilin open reading frame. Kugler et al. (1996) suggested that exons 1A and 1B have been gained during evolution, allowing alternative mechanisms of expression control of the human vigilin gene.
Kugler, S., Plenz, G., Muller, P. K. Two additional 5-prime exons in the human vigilin gene distinguish it from the chicken gene and provide the structural basis for differential routes of gene expression. Europ. J. Biochem. 238: 410-417, 1996. [PubMed: 8681952] [Full Text: https://doi.org/10.1111/j.1432-1033.1996.0410z.x]
LeBoeuf, R. C., Xia, Y.-R., Oram, J. F., Lusis, A. J. Mapping of the gene for high-density lipoprotein binding protein (Hdlbp) to proximal mouse chromosome 1. Genomics 23: 296-298, 1994. [PubMed: 7829095] [Full Text: https://doi.org/10.1006/geno.1994.1501]
Plenz, G., Kugler, S., Schnittger, S., Rieder, H., Fonatsch, C., Muller, P. K. The human vigilin gene: identification, chromosomal localization and expression pattern. Hum. Genet. 93: 575-582, 1994. [PubMed: 8168838] [Full Text: https://doi.org/10.1007/BF00202827]
Xia, Y.-R., Klisak, I., Sparkes, R. S., Oram, J., Lusis, A. J. Localization of the gene for high-density lipoprotein binding protein (HDLBP) to human chromosome 2q37. Genomics 16: 524-525, 1993. [PubMed: 8390966] [Full Text: https://doi.org/10.1006/geno.1993.1221]