HGNC Approved Gene Symbol: C19orf48Cytogenetic location: 19q13.33 Genomic coordinates (GRCh38): 19:50,797,703-50,804,593 (from NCBI)▼ Cloning and ExpressionZ...
HGNC Approved Gene Symbol: C19orf48
Cytogenetic location: 19q13.33 Genomic coordinates (GRCh38): 19:50,797,703-50,804,593 (from NCBI)
▼ Cloning and Expression
Zhou et al. (2002) cloned full-length human C19ORF48 from a multidrug-resistant lung adenocarcinoma cell line. The predicted protein contains 117 amino acids.
Tykodi et al. (2008) reported that the human C19ORF48 gene produces 2 alternatively spliced transcripts. The major transcript encodes the predicted 117-amino acid protein, but it also contains several alternative ORFs. The authors presented evidence that at least 1 alternative ORF is translated, producing a 48-amino acid polypeptide.
▼ Gene Structure
Tykodi et al. (2008) reported that the C19ORF48 gene contains 5 exons. Exon 2 is subject to alternative splicing.
Tykodi et al. (2008) stated that the C19ORF48 gene maps to chromosome 19q13.
▼ Gene Function
Using suppression subtractive hybridization, Zhou et al. (2002) found that expression of C19ORF48 was related to multidrug resistance in human lung adenocarcinoma.
Tykodi et al. (2008) found that an alternative ORF of C19ORF48 encoded an HLA-A*201 (see 142800)-restricted minor histocompatibility antigen recognized by CD8 (see 186910)-positive cytotoxic T lymphocytes (CTLs) from 2 renal cell carcinoma (RCC) patients. The alternative ORF produced a 48-amino acid polypeptide. Nucleotide 263T of a 263T-A SNP (rs3745526), corresponding to ser43 instead of thr43 in the polypeptide, was necessary for CTL recognition. The minimal epitope recognized by the CTLs was an 11-mer peptide (CIPPDSLLFPA) containing ser43 located at the C terminus of the 48-amino acid C19ORF48 polypeptide. The C19ORF48 transcript encoding the 48-amino acid polypeptide was broadly expressed by RCC tumors, other tumors, and normal tissues. Further analysis showed that C19ORF43 was likely processed for CTL recognition via both TAP (170260)-dependent and -independent pathways.
Using long serial analysis of gene expression (LongSAGE) analysis, followed by validation with quantitative RT-PCR, Romanuik et al. (2009) identified C19ORF48 among genes whose expression in human prostate cancer cells increased in response to androgen. Database analysis revealed an androgen response element in the C19ORF48 promoter region.