Gene: WRAP53

Alternate names for this Gene: DKCB3|TCAB1|WDR79

Gene Summary: This gene encodes an essential component of the telomerase holoenzyme complex, a ribonucleoprotein complex required for telomere synthesis. This protein is enriched in Cajal bodies, nuclear sites of RNP processing that are important for telomerase function. It interacts with dyskerin, TERT and TERC, other components of active telomerase, and with small Cajal body RNAs (scaRNAs), which are involved in modifying splicing RNAs. This mRNA also functions as a p53 antisense transcript, that regulates endogenous p53 mRNA levels and further induction of p53 protein by targeting the 5' untranslated region of p53 mRNA. Alternatively spliced transcript variants which differ only in the 5' UTR have been found for this gene.

Gene is located in Chromosome: 17

Location in Chromosome : 17p13.1

Description of this Gene: WD repeat containing antisense to TP53

Type of Gene: protein-coding

Gene: TP53

Alternate names for this Gene: BCC7|BMFS5|LFS1|P53|TRP53

Gene Summary: This gene encodes a tumor suppressor protein containing transcriptional activation, DNA binding, and oligomerization domains. The encoded protein responds to diverse cellular stresses to regulate expression of target genes, thereby inducing cell cycle arrest, apoptosis, senescence, DNA repair, or changes in metabolism. Mutations in this gene are associated with a variety of human cancers, including hereditary cancers such as Li-Fraumeni syndrome. Alternative splicing of this gene and the use of alternate promoters result in multiple transcript variants and isoforms. Additional isoforms have also been shown to result from the use of alternate translation initiation codons from identical transcript variants (PMIDs: 12032546, 20937277).

Gene is located in Chromosome: 17

Location in Chromosome : 17p13.1

Description of this Gene: tumor protein p53

Type of Gene: protein-coding

rs281865547 in WRAP53;TP53 gene and DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 3 PMID 21602826 2011 Telomere shortening and loss of self-renewal in dyskeratosis congenita induced pluripotent stem cells.

PMID 21205863 2011 Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita.