Property Summary

NCBI Gene PubMed Count 15
PubMed Score 39.37
PubTator Score 16.44

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (6)

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
Epilepsy 346 0.0 4.0
Intellectual disability 573 0.0 4.0
Disease Target Count Z-score Confidence
Chondrodysplasia punctata 41 4.615 2.3

Expression

Synonym

Accession Q8WVX9 D3DQW8 Q5CZA3
Symbols PFCRD
MLSTD2
SDR10E1

Gene

  Ortholog (13)

Gene RIF (5)

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

AA Sequence

MVSIPEYYEGKNVLLTGATGFLGKVLLEKLLRSCPKVNSVYVLVRQKAGQTPQERVEEVLSGKLFDRLRD      1 - 70
ENPDFREKIIAINSELTQPKLALSEEDKEVIIDSTNIIFHCAATVRFNENLRDAVQLNVIATRQLILLAQ     71 - 140
QMKNLEVFMHVSTAYAYCNRKHIDEVVYPPPVDPKKLIDSLEWMDDGLVNDITPKLIGDRPNTYIYTKAL    141 - 210
AEYVVQQEGAKLNVAIVRPSIVGASWKEPFPGWIDNFNGPSGLFIAAGKGILRTIRASNNALADLVPVDV    211 - 280
VVNMSLAAAWYSGVNRPRNIMVYNCTTGSTNPFHWGEVEYHVISTFKRNPLEQAFRRPNVNLTSNHLLYH    281 - 350
YWIAVSHKAPAFLYDIYLRMTGRSPRMMKTITRLHKAMVFLEYFTSNSWVWNTENVNMLMNQLNPEDKKT    351 - 420
FNIDVRQLHWAEYIENYCLGTKKYVLNEEMSGLPAARKHLNKLRNIRYGFNTILVILIWRIFIARSQMAR    421 - 490
NIWYFVVSLCYKFLSYFRASSTMRY                                                 491 - 515
//

Text Mined References (17)

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).
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