| Tbio | Fatty acyl-CoA reductase 1 |
Catalyzes the reduction of saturated and unsaturated C16 or C18 fatty acyl-CoA to fatty alcohols (PubMed:15220348, PubMed:24108123). It plays an essential role in the production of ether lipids/plasmalogens which synthesis requires fatty alcohols (PubMed:20071337, PubMed:24108123). In parallel, it is also required for wax monoesters production since fatty alcohols also constitute a substrate for their synthesis (By similarity).
The protein encoded by this gene is required for the reduction of fatty acids to fatty alcohols, a process that is required for the synthesis of monoesters and ether lipids. NADPH is required as a cofactor in this reaction, and 16-18 carbon saturated and unsaturated fatty acids are the preferred substrate. This is a peroxisomal membrane protein, and studies suggest that the N-terminus contains a large catalytic domain located on the outside of the peroxisome, while the C-terminus is exposed to the matrix of the peroxisome. Studies indicate that the regulation of this protein is dependent on plasmalogen levels. Mutations in this gene have been associated with individuals affected by severe intellectual disability, early-onset epilepsy, microcephaly, congenital cataracts, growth retardation, and spasticity (PMID: 25439727). A pseudogene of this gene is located on chromosome 13. [provided by RefSeq, Jan 2015]
The protein encoded by this gene is required for the reduction of fatty acids to fatty alcohols, a process that is required for the synthesis of monoesters and ether lipids. NADPH is required as a cofactor in this reaction, and 16-18 carbon saturated and unsaturated fatty acids are the preferred substrate. This is a peroxisomal membrane protein, and studies suggest that the N-terminus contains a large catalytic domain located on the outside of the peroxisome, while the C-terminus is exposed to the matrix of the peroxisome. Studies indicate that the regulation of this protein is dependent on plasmalogen levels. Mutations in this gene have been associated with individuals affected by severe intellectual disability, early-onset epilepsy, microcephaly, congenital cataracts, growth retardation, and spasticity (PMID: 25439727). A pseudogene of this gene is located on chromosome 13. [provided by RefSeq, Jan 2015]
Comments
| Disease | Target Count |
|---|---|
| PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER | 1 |
| Disease | Target Count | P-value |
|---|---|---|
| juvenile dermatomyositis | 1187 | 4.3e-09 |
| tuberculosis and treatment for 6 months | 409 | 3.2e-04 |
| acute quadriplegic myopathy | 1158 | 3.5e-04 |
| medulloblastoma, large-cell | 6241 | 4.4e-04 |
| osteosarcoma | 7950 | 9.3e-04 |
| atypical teratoid / rhabdoid tumor | 5112 | 2.1e-03 |
| Pick disease | 1894 | 3.9e-03 |
| ovarian cancer | 8520 | 6.2e-03 |
| intraductal papillary-mucinous adenoma (IPMA) | 2955 | 6.5e-03 |
| pediatric high grade glioma | 1064 | 9.7e-03 |
| glioblastoma | 5792 | 1.2e-02 |
| progressive supranuclear palsy | 676 | 1.6e-02 |
| group 4 medulloblastoma | 1855 | 2.1e-02 |
| ependymoma | 4679 | 2.3e-02 |
| intraductal papillary-mucinous neoplasm (IPMN) | 3291 | 4.4e-02 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Osteoporosis | 363 | 0.0 | 2.1 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Chondrodysplasia punctata | 41 | 4.476 | 2.2 |
| Neuronal ceroid lipofuscinosis 1 | 15 | 3.604 | 1.8 |
| Filariasis | 21 | 3.191 | 1.6 |
| Disease | log2 FC | p |
|---|---|---|
| acute quadriplegic myopathy | 1.040 | 3.5e-04 |
| atypical teratoid / rhabdoid tumor | 1.100 | 2.1e-03 |
| ependymoma | 1.400 | 2.3e-02 |
| glioblastoma | 1.400 | 1.2e-02 |
| group 4 medulloblastoma | 1.300 | 2.1e-02 |
| intraductal papillary-mucinous adenoma (... | 2.000 | 6.5e-03 |
| intraductal papillary-mucinous neoplasm ... | 1.900 | 4.4e-02 |
| juvenile dermatomyositis | 1.275 | 4.3e-09 |
| medulloblastoma, large-cell | 1.600 | 4.4e-04 |
| osteosarcoma | 2.188 | 9.3e-04 |
| ovarian cancer | 1.500 | 6.2e-03 |
| pediatric high grade glioma | 1.300 | 9.7e-03 |
| Pick disease | -1.200 | 3.9e-03 |
| progressive supranuclear palsy | -1.600 | 1.6e-02 |
| tuberculosis and treatment for 6 months | 1.300 | 3.2e-04 |
MVSIPEYYEGKNVLLTGATGFLGKVLLEKLLRSCPKVNSVYVLVRQKAGQTPQERVEEVLSGKLFDRLRD 1 - 70 ENPDFREKIIAINSELTQPKLALSEEDKEVIIDSTNIIFHCAATVRFNENLRDAVQLNVIATRQLILLAQ 71 - 140 QMKNLEVFMHVSTAYAYCNRKHIDEVVYPPPVDPKKLIDSLEWMDDGLVNDITPKLIGDRPNTYIYTKAL 141 - 210 AEYVVQQEGAKLNVAIVRPSIVGASWKEPFPGWIDNFNGPSGLFIAAGKGILRTIRASNNALADLVPVDV 211 - 280 VVNMSLAAAWYSGVNRPRNIMVYNCTTGSTNPFHWGEVEYHVISTFKRNPLEQAFRRPNVNLTSNHLLYH 281 - 350 YWIAVSHKAPAFLYDIYLRMTGRSPRMMKTITRLHKAMVFLEYFTSNSWVWNTENVNMLMNQLNPEDKKT 351 - 420 FNIDVRQLHWAEYIENYCLGTKKYVLNEEMSGLPAARKHLNKLRNIRYGFNTILVILIWRIFIARSQMAR 421 - 490 NIWYFVVSLCYKFLSYFRASSTMRY 491 - 515 //
