WRAP53
WD Repeat Containing Antisense to TP53
Gene Information Card
| Symbol | WRAP53 |
|---|---|
| Full Name | WD Repeat Containing Antisense to TP53 |
| Gene Type | Protein coding |
| Chromosomal Location | 17p13.1 |
| NCBI Gene ID | 55135 ncbi.nlm.nih.gov/gene/55135 |
| Ensembl ID | ENSG00000141499 |
| UniProt ID | Q9BUR4 |
| OMIM ID | 612661 |
| HGNC ID | 25522 |
| Aliases | TCAB1, WDR79, DKCB3 |
Description
WRAP53 encodes a WD40 repeat-containing protein that localizes to Cajal bodies and is essential for telomerase trafficking and telomere maintenance. It also functions as a natural antisense transcript that regulates TP53 expression. Mutations in WRAP53 cause autosomal recessive dyskeratosis congenita type 3 (DKCB3), characterized by bone marrow failure and telomere shortening.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Dyskeratosis congenita type 3 (DKCB3) | Loss-of-function mutations impair telomerase localization to Cajal bodies, leading to defective telomere maintenance and premature telomere shortening. | PMID: 21295274, ClinVar |
| Hereditary cancer-predisposing syndrome | WRAP53 mutations may increase cancer risk due to telomere dysfunction and genomic instability. | PMID: 21295274, COSMIC |
| Breast cancer | WRAP53 overexpression is associated with TP53 regulation and poor prognosis in breast cancer. | PMID: 22955915 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone marrow | 8.2 | Medium |
| Lung | 6.1 | Low |
| Breast | 5.3 | Low |
| Skin | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.2 | Cervical cancer cell line |
| MCF7 | 7.8 | Breast cancer cell line |
| K562 | 6.5 | Leukemia cell line |
| HEK293 | 5.9 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1102C>T (p.Arg368*) | Nonsense | Rare | Loss of function; truncation of protein |
| c.1240C>T (p.Arg414Cys) | Missense | Rare | Impaired telomerase localization |
| c.7A>G (p.Met1Val) | Missense | Rare | Start codon loss; loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations (e.g., p.Arg368*, p.Met1Val) disrupt telomerase trafficking and telomere maintenance, leading to dyskeratosis congenita.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding (GO:0003723) | • protein binding (GO:0005515) |
| • nucleus (GO:0005634) | • Cajal body (GO:0015030) |
| • telomere maintenance via telomerase (GO:0007004) | • poly(A) RNA binding (GO:0044822) |
Pathways
• Telomere maintenance (Reactome: R-HSA-157579)
• Telomerase regulation (Reactome: R-HSA-163200)
Protein Summary
The WRAP53 protein (TCAB1) contains multiple WD40 repeats and is a core component of the telomerase holoenzyme complex. It is required for the localization of telomerase to Cajal bodies and for telomere elongation. Additionally, it acts as a natural antisense transcript that positively regulates TP53 expression by stabilizing TP53 mRNA.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| No Data | ||||
