| Tbio | Fatty acyl-CoA reductase 1 |
Catalyzes the reduction of saturated fatty acyl-CoA with chain length C16 or C18 to fatty alcohols.
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 | 1189 | 4.32182363777627E-9 |
| tuberculosis and treatment for 6 months | 686 | 3.23724048550286E-4 |
| acute quadriplegic myopathy | 1157 | 3.45513213528167E-4 |
| medulloblastoma, large-cell | 6234 | 4.42877586031829E-4 |
| osteosarcoma | 7933 | 9.25408355477871E-4 |
| atypical teratoid / rhabdoid tumor | 4369 | 0.00207034978125349 |
| Pick disease | 1893 | 0.00392299085079285 |
| ovarian cancer | 8492 | 0.00618567014493168 |
| intraductal papillary-mucinous adenoma (IPMA) | 2956 | 0.00650024086507365 |
| pediatric high grade glioma | 2712 | 0.00971540452822505 |
| progressive supranuclear palsy | 674 | 0.011099024998312 |
| glioblastoma | 5572 | 0.012074856494024 |
| group 4 medulloblastoma | 1875 | 0.0211512250998989 |
| ependymoma | 2514 | 0.0229882382409171 |
| intraductal papillary-mucinous neoplasm (IPMN) | 3289 | 0.0444116703340548 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Osteoporosis | 259 | 0.0 | 2.0 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Chondrodysplasia punctata | 41 | 4.615 | 2.3 |
| Disease | log2 FC | p |
|---|---|---|
| ependymoma | 1.400 | 0.023 |
| osteosarcoma | 2.188 | 0.001 |
| atypical teratoid / rhabdoid tumor | 1.100 | 0.002 |
| glioblastoma | 1.400 | 0.012 |
| medulloblastoma, large-cell | 1.600 | 0.000 |
| juvenile dermatomyositis | 1.275 | 0.000 |
| acute quadriplegic myopathy | 1.040 | 0.000 |
| tuberculosis and treatment for 6 months | 1.300 | 0.000 |
| intraductal papillary-mucinous adenoma (... | 2.000 | 0.007 |
| intraductal papillary-mucinous neoplasm ... | 1.900 | 0.044 |
| pediatric high grade glioma | 1.300 | 0.010 |
| group 4 medulloblastoma | 1.300 | 0.021 |
| Pick disease | -1.200 | 0.004 |
| progressive supranuclear palsy | -2.000 | 0.011 |
| ovarian cancer | 1.500 | 0.006 |
| Species | Source |
|---|---|
| Chimp | OMA EggNOG |
| Macaque | OMA EggNOG Inparanoid |
| Mouse | OMA EggNOG Inparanoid |
| Rat | OMA Inparanoid |
| Dog | OMA EggNOG Inparanoid |
| Horse | OMA EggNOG Inparanoid |
| Cow | OMA EggNOG Inparanoid |
| Pig | OMA EggNOG Inparanoid |
| Opossum | OMA EggNOG Inparanoid |
| Platypus | OMA EggNOG Inparanoid |
| Chicken | OMA Inparanoid |
| Xenopus | OMA EggNOG Inparanoid |
| C. elegans | OMA EggNOG |
| PMID | Text |
|---|---|
| 25439727 | A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiency. |
| 24108123 | Expression of Far1 increased plasmalogen synthesis in wild-type Chinese hamster ovary cells, strongly suggesting that Far1 is a rate-limiting enzyme for plasmalogen synthesis. |
| 20071337 | ether lipid biosynthesis in mammalian cells is regulated by a negative feedback mechanism that senses cellular plasmalogen levels and appropriately increases or decreases Far1 |
| 15220349 | wax monoester synthesis in mammals involves a two step biosynthetic pathway catalyzed by fatty acyl-CoA reductase and wax synthase enzymes |
| 15220348 | fatty alcohol synthesis in mammals is accomplished by two fatty acyl-CoA reductase isozymes that are expressed at high levels in tissues known to synthesize wax monoesters and ether lipids |
MVSIPEYYEGKNVLLTGATGFLGKVLLEKLLRSCPKVNSVYVLVRQKAGQTPQERVEEVLSGKLFDRLRD 1 - 70 ENPDFREKIIAINSELTQPKLALSEEDKEVIIDSTNIIFHCAATVRFNENLRDAVQLNVIATRQLILLAQ 71 - 140 QMKNLEVFMHVSTAYAYCNRKHIDEVVYPPPVDPKKLIDSLEWMDDGLVNDITPKLIGDRPNTYIYTKAL 141 - 210 AEYVVQQEGAKLNVAIVRPSIVGASWKEPFPGWIDNFNGPSGLFIAAGKGILRTIRASNNALADLVPVDV 211 - 280 VVNMSLAAAWYSGVNRPRNIMVYNCTTGSTNPFHWGEVEYHVISTFKRNPLEQAFRRPNVNLTSNHLLYH 281 - 350 YWIAVSHKAPAFLYDIYLRMTGRSPRMMKTITRLHKAMVFLEYFTSNSWVWNTENVNMLMNQLNPEDKKT 351 - 420 FNIDVRQLHWAEYIENYCLGTKKYVLNEEMSGLPAARKHLNKLRNIRYGFNTILVILIWRIFIARSQMAR 421 - 490 NIWYFVVSLCYKFLSYFRASSTMRY 491 - 515 //
| PMID | Year | Title |
|---|---|---|
| 25439727 | 2014 | A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiency. |
| 24108123 | 2013 | Topogenesis and homeostasis of fatty acyl-CoA reductase 1. |
| 21525035 | 2011 | PEX14 is required for microtubule-based peroxisome motility in human cells. |
| 21269460 | 2011 | Initial characterization of the human central proteome. |
| 20071337 | 2010 | Posttranslational regulation of fatty acyl-CoA reductase 1, Far1, controls ether glycerophospholipid synthesis. |
| 19027726 | 2009 | The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. |
| 17974005 | 2007 | The full-ORF clone resource of the German cDNA Consortium. |
| 17353931 | 2007 | Large-scale mapping of human protein-protein interactions by mass spectrometry. |
| 16756494 | 2006 | Biochemistry of mammalian peroxisomes revisited. |
| 16396496 | 2006 | Insulin-dependent interactions of proteins with GLUT4 revealed through stable isotope labeling by amino acids in cell culture (SILAC). |
| More... |
