Disease relevance of FAM120C

• Reverse transcription-PCR analysis revealed that specific messages for ORF34 and ORF50 are upregulated in BCBL-1 cells exposed to hypoxia [1].
• Genetic organization and hypoxic activation of the Kaposi's sarcoma-associated herpesvirus ORF34-37 gene cluster [2].
• Orf34 showed similarity to sigma factors with highest similarity (28% aa) to the sporulation specific Sigma factor, Sigma 28(K) from Bacillus thuringiensis [3].

High impact information on FAM120C

• We previously reported that hypoxia activates KSHV lytic replication and that the promoter for open reading frame 34 (ORF34) contains a functional hypoxia-responsive element (HRE) [2].
• The ORF34-37 promoter region has six consensus HREs [2].
• Under conditions of hypoxia, the ORF34 promoter was strongly upregulated by HIF-1 alpha and HIF-2 alpha [1].
• The CXorf17 protein has homology to two other non-annotated human proteins, C9orf10 and BC012177, the sequence similarity between them being strongest across two discrete domains of 250-270 amino acids in the N- and C-terminal parts of their sequences [4].
• In the Group 2 loci, comparison of the genetic layout at the 5' end revealed differences which included mutations disrupting reading frames in either or both orf34 and orf35 and apparent allelic differences between orf33 homologs that may be sufficient to account for the genetic basis of serovar identity [5].

Biological context of FAM120C

• One is in the promoter region of the gene for Rta, the main lytic switch gene, and the other is within the promoter region of ORF34, a lytic gene of unknown function [1].

Analytical, diagnostic and therapeutic context of FAM120C

• CXorf17 appears to be expressed at low levels and could be detected by RT-PCR in several adult and fetal human tissues [4].
• Dissection and site-directed mutagenesis studies confirmed that one of the HREs of the ORF34 promoter is functional [1].

References