The reference OMIM entry for this protein is 608151

Wd repeat-containing protein 19; wdr19
Ift144

CLONING

Using microarray analysis to profile androgen-induced gene expression, Lin et al. (2003) cloned WDR19 from an androgen-sensitive prostate adenocarcinoma cell line cDNA library. They obtained full-length WDR19 by library screening and 5-prime RACE of normal prostate cDNA. The deduced 1,342-amino acid protein contains 6 N-terminal WD repeats, 3 transmembrane helices, and a sequence of about 150 amino acids that shares homology with the clathrin heavy chain (118955) repeat. It also has a vacuolar targeting motif and is distantly related to vacuolating cytotoxin protein from H. pylori. WDR19 shares 89% amino acid identity with mouse Wdr19. Northern blot analysis detected strong expression of a 1.8-kb transcript and low expression of a 3.0-kb transcript in the androgen-sensitive prostate cancer cell line. Transcripts of 1.8, 3.0, 4.5, and 6.8 kb were detected in normal prostate. The 4.5- and 6.8-kb transcripts were also expressed in testis and ovary, and a faint 1.8-kb band was detected in pancreas. RNA dot blot analysis detected strong expression in prostate and weaker expression in cerebellum, pituitary gland, fetal lung, and pancreas. Northern blot analysis and RNA dot blot analysis of mouse tissues showed tissue-specific expression of several variants, with highest overall expression in submaxillary gland, testis, epididymis, and prostate. In situ hybridization of normal human prostate revealed expression in both basal and luminal epithelial cells. No expression was detected in fibromuscular stromal cells, endothelial cells, or infiltrating lymphocytes. Uniform expression was detected in prostate adenocarcinoma cells.

GENE STRUCTURE

Lin et al. (2003) determined that the WDR19 gene contains 36 exons and spans 110 kb. The promoter region contains a TATA box and binding sites for AP1 (see 165160) and SP1 (189906). Introns 14 and 27 may function as alternative promoters, resulting in proteins that lack the 6 WD repeats and the transmembrane domains. EST database analysis detected WDR19 transcripts that were alternatively spliced, including use of an optional exon 21A, and other transcripts that utilized alternate polyadenylation sites. Lin et al. (2003) determined that murine Wdr19 gene contains 36 exons and spans at least 60 kb.

MAPPING

By radiation hybrid analysis, Lin et al. (2003) mapped the WDR19 gene to chromosome 4p14-p11.

GENE FUNCTION

Lin et al. (2003) determined that WDR19 expression increased 3-fold in an androgen-stimulated androgen-sensitive prostate adenocarcinoma cell line compared with androgen-deprived cells. No WDR19 expression was detected in prostate cancer cell lines that did not express a functional androgen receptor (313700). In fibroblasts from a healthy individual, Bredrup et al. (2011) detected the WDR19 product IFT144 throughout the cilium, with prominent signals at the base, where it colocalized with RPGRIP1L (610937), and at the ciliary tip.

MOLECULAR GENETICS

Bredrup et al. (2011) performed exome sequencing in a sister and brother with cranioectodermal dysplasia (CED4; 614378), also known as Sensenbrenner syndrome, from a Norwegian family in which haplotype analysis had excluded the 3 known causative genes for this disorder. They identified compound heterozygosity for variants in the WDR19 gene that cosegregated with disease (L710S, 608151.0001; and R1103X, 608151.0002). Screening all coding exons of WDR19 in 9 additional patients with Sensenbrenner ... More on the omim web site

Subscribe to this protein entry history

July 1, 2020: Protein entry updated
Automatic update: OMIM entry 608151 was added.

May 11, 2019: Protein entry updated
Automatic update: Entry updated from uniprot information.

Oct. 19, 2018: Additional information
Initial protein addition to the database. This entry was referenced in Bryk and co-workers. (2017).