Table 5.
Examples of Human Processed Pseudogenes With Medical Implications
| Protein name | Gene name | No. of pseudogenes | Medical implications | MIM no.a |
|---|---|---|---|---|
| Cyclohilin A, peptidyl-prolyl cis—trans isomerase A, (P05092) | PPIa, CYPA | 63 | Affects survival rates in human transplants, binds gag protein of HIV-1 | 123840 |
| Glyceraldehyde 3-phosphate dehydrogenase (P04406) | GAPD | 52 | Overexpressed in lung cancer cells | 138400 |
| Nucleophosmin (P06748) | NPM1, NPM | 34 | More abundant in tumor cells than in normal resting cells | 164040 |
| Nef attachable protein (Q9P2Y3) | 32 | Attachable to human immunodeficiency virus type 1 Nef protein | ||
| Prohibitin (P35232) | PHB | 20 | Possible tumor suppressor gene | 176705 |
| Hsc70-interacting protein, Hip (P50502) | ST13,HIP, SNC6 | 14 | Suppression of tumorigenicity 13 (colon carcinoma) | 606796 |
| SET protein, HLA-DR associated protein II, PHAPII (Q01105) | SET | 13 | Myeloid leukemia associated, involved in human renal development and Wilms' tumor | 600960 |
| FSHD (Q14333) | FSHD | 13 | Facioscapulohumeral muscular dystrophy | 606009 |
| B lymphocyte activation-related protein BC-2048 (Q96PM7) | 12 | B-lymphocyte activation-related | ||
| Translationally controlled tumor protein, TCTP, p23 (P13693) | TPT1 | 12 | Tumor protein translationally controlled, histamine-releasing factor | 600763 |
| Melanoma antigen (Q9UMX8) | 10 | Melanoma antigen recognized by HLA-A1-restricted T-cells | ||
| Retinoic acid receptor responder protein 2 (Q99969) | RARRES2, TIG2 | 10 | Retinoic acid receptor responder protein 2 (tazarotene induced) | 601973 |
| Teratocarcinoma-derived growth factor 1, CRGF (P13385) | TDGF1, CRIPTO | 6 | Required for proper laterality development in humans, role in midline and forebrain development | 187395 |
| Small EDRK-rich factor 2, gastric cancer-related protein (Q9BZH7) | SERF2, FAM2C | 6 | Candidate gene for spinal muscular atrophy, gastric cancer-related | 605054 |
| Cytokeratin 19, CK 19 (P08727) | KRT19 | 4 | Used as marker to detect micrometastatic tumor cells | 148020 |
a
Entry in the OMIM database: Online Mendelian Inheritance in Man (http://www.ncbi.nlm.nih.gov/omim/)