Table 2.
Examples of predicted human moonlighting proteins and their associated genetic diseases
| Protein and UniProt descriptors (*) | Canonical (C) and predicted moonlighting functions (M) | Associated diseases and reference (*) | Interactomics partners (*) | PISITE models (*) |
|---|---|---|---|---|
| 3-hydroxyacyl-CoA dehydrogenase type-2 Q99714 HCD2_HUMAN |
(C) mitochondrial ribonuclease P (M) beta-oxidation of fatty acids |
(1) 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (MHBD deficiency) (2) Mental retardation X-linked, syndromes |
(1)Amyloid beta A4 protein (2) Mitochondrial ribonuclease P protein 1 (3) Sulfatase-modifying factor 1 (4) Mitochondrial ribonuclease P protein 3 |
(1) 3-hydroxyacyl-CoA dehydrogenase type-2 PDBID: 1so8 CHAIN:A (2) 3-alpha-(or 20-beta)-hydroxysteroid dehydrogenase PDBID: 1nfq CHAIN:C |
| Pyruvate kinase PKLR P30613 KPYR_HUMAN |
(C) Glycolysis (M) May participate in red cell survival |
(1) Pyruvate kinase hyperactivity (PKHYP) (2) Pyruvate kinase deficiency of red cells (PKRD) |
(1) Myocilin (2) Kinesin-like protein KIF23 (3) Rho guanine nucleotide exchange factor 7 (4) Rho guanine nucleotide exchange factor 6 (5) Paxillin (6) Serine/threonine-protein kinase PAK 1 |
No relevant matches found |
| Fanconi anemia group J protein Q9BX63 FANCJ_HUMAN |
(C) DNA-dependent ATPase and 5′ to 3′ DNA helicase (M) Involved in the repair of DNA double-strand breaks |
(1) Breast cancer (BC) (2) Fanconi anemia complementation group J (FANCJ) |
(1) Breast cancer type 1 susceptibility protein (2) DNA mismatch repair protein Mlh1 (3) Mismatch repair endonuclease PMS2 (4) POZ-, AT hook-, and zinc finger-containing protein 1 |
No relevant matches found |
| 85/88 kDa calcium-independent phospholipase A2 O60733 PLPL9_HUMAN |
(C) Catalyzes the release of fatty acids from phospholipids (M) May participate in apoptosis |
(1) Neurodegeneration with brain iron accumulation 2B (NBIA2B) (2) Neurodegeneration with brain iron accumulation 2A (NBIA2A) (3) Parkinson disease 14 (PARK14) |
(1) BAG family molecular chaperone regulator 3 | (1) CASPASE-2 PDBID: 2p2c CHAIN:U |
| Alpha-aminoadipic semialdehyde synthase, mitocondrial Q9UDR5 AASS_HUMAN |
(C) Lysine-ketoglutarate reductase (M) Saccharopine dehydrogenase |
(1) Hyperlysinemia, 1 (HYPLYS1) (2) 2,4-dienoyl-CoA reductase deficiency (DECRD) |
(1) mRNA-decapping enzyme 1A (2) Peptidyl-tRNA hydrolase ICT1, mitochondrial (3) Myc proto-oncogene protein (4) Telomeric repeat-binding factor 2 |
(1) SACCHAROPINE DEHYDROGENASE PDBID: 2axq CHAIN:A (2) SACCHAROPINE REDUCTASE PDBID: 1e5q CHAIN:H |
*Entries are linked to the corresponding information