ID:WAP53_HUMAN DESCRIPTION: RecName: Full=Telomerase Cajal body protein 1; AltName: Full=WD repeat-containing protein 79; AltName: Full=WD40 repeat-containing protein encoding RNA antisense to p53; FUNCTION: Essential component of the telomerase holoenzyme complex, a ribonucleoprotein complex essential for the replication of chromosome termini that elongates telomeres in most eukaryotes. In the telomerase holoenzyme complex, it controls telomerase localization to Cajal body. Required for delivery of TERC to telomeres during S phase and for telomerase activity. Binds small Cajal body RNAs (scaRNAs). The mRNA encoding this protein plays a critical role in the regulation of p53 expression at the post- transcriptional level; it is involved both in maintaining basal p53 mRNA levels and in p53 induction upon DNA damage. SUBUNIT: Component of the telomerase holoenzyme complex at least composed of TERT, DKC1, WRAP53/TCAB1, NOP10, NHP2, GAR1, TEP1, EST1A, POT1 and a telomerase RNA template component (TERC). SUBCELLULAR LOCATION: Nucleus, Cajal body. Cytoplasm. TISSUE SPECIFICITY: Expressed in all tissues and cell lines examined. PTM: Phosphorylated upon DNA damage, probably by ATM or ATR. DISEASE: Defects in WRAP53 are the cause of dyskeratosis congenita autosomal recessive type 3 (DKCB3) [MIM:613988]. A rare multisystem disorder caused by defective telomere maintenance. It is characterized by progressive bone marrow failure, and the clinical triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but variable features include premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among others. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy. SIMILARITY: Contains 6 WD repeats.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9BUR4
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0007004 telomere maintenance via telomerase GO:0032203 telomere formation via telomerase GO:0051973 positive regulation of telomerase activity GO:0090666 scaRNA localization to Cajal body GO:0090671 telomerase RNA localization to Cajal body GO:1904851 positive regulation of establishment of protein localization to telomere GO:1904867 protein localization to Cajal body
DQ431241 - Homo sapiens WD40 protein Wrap53 1G (WRAP53) mRNA, complete cds. AK056669 - Homo sapiens cDNA FLJ32107 fis, clone OCBBF2001416, highly similar to WD repeat protein 79. AY766322 - Homo sapiens WRAP53 mRNA, complete cds, alternatively spliced. AK092370 - Homo sapiens cDNA FLJ35051 fis, clone OCBBF2018206, moderately similar to Mesocricetus auratus guanine nucleotide-binding protein beta 5. AX747505 - Sequence 1030 from Patent EP1308459. DQ431240 - Homo sapiens WRAP53beta (WRAP53) mRNA, complete cds. AK225411 - Homo sapiens mRNA for hypothetical protein LOC55135 variant, clone: HRC08661. AK001247 - Homo sapiens cDNA FLJ10385 fis, clone NT2RM2002128, weakly similar to PUTATIVE SERINE/THREONINE-PROTEIN KINASE PKWA (EC 2.7.1.-). AK225273 - Homo sapiens mRNA for hypothetical protein LOC55135 variant, clone: DMC09064. AK303246 - Homo sapiens cDNA FLJ54772 complete cds, moderately similar to WD repeat protein 79. BC002336 - Homo sapiens WD repeat containing, antisense to TP53, mRNA (cDNA clone MGC:973 IMAGE:2924101), complete cds. CU677914 - Synthetic construct Homo sapiens gateway clone IMAGE:100017698 5' read WDR79 mRNA. KJ894137 - Synthetic construct Homo sapiens clone ccsbBroadEn_03531 WRAP53 gene, encodes complete protein. KR710121 - Synthetic construct Homo sapiens clone CCSBHm_00009894 WRAP53 (WRAP53) mRNA, encodes complete protein. AY766323 - Homo sapiens WRAP53 mRNA, exon 1B and partial cds, alternatively spliced. JD289164 - Sequence 270188 from Patent EP1572962. JD416444 - Sequence 397468 from Patent EP1572962. JD130445 - Sequence 111469 from Patent EP1572962. JD145053 - Sequence 126077 from Patent EP1572962. DQ571908 - Homo sapiens piRNA piR-32020, complete sequence. JD343330 - Sequence 324354 from Patent EP1572962.
Biochemical and Signaling Pathways
Reactome (by CSHL, EBI, and GO)
Protein Q9BUR4 (Reactome details) participates in the following event(s):
R-HSA-390470 Association of CCT/TriC with other substrates during biosynthesis (unknown chaperone) R-HSA-390471 Association of TriC/CCT with target proteins during biosynthesis R-HSA-390466 Chaperonin-mediated protein folding R-HSA-391251 Protein folding R-HSA-392499 Metabolism of proteins
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
