Property Summary

NCBI Gene PubMed Count 14
Grant Count 1
Funding $58,757.5
PubMed Score 13.43
PubTator Score 16.05

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (4)

Disease log2 FC p
Rheumatoid Arthritis 1.100 0.040
cystic fibrosis -1.252 0.000
spina bifida -1.321 0.040
ovarian cancer -1.500 0.000

Synonym

Accession Q96JX3 Q49AT1 Q5VTX3 Q6PKF3
Symbols

Gene

 Grant Application (1)

Gene RIF (4)

PMID Text
23918762 Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome) caused by novel mutations in SERAC1.
23707711 During the course of this project a parallel study identified mutations in SERAC1 as the genetic cause of the disease in 15 patients with MEGDEL syndrome, which was compatible with the clinical and biochemical phenotypes of the patient described here.
22683713 Data identify SERAC1 as a key player in the phosphatidylglycerol remodeling that is essential for both mitochondrial function and intracellular cholesterol trafficking.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)

AA Sequence

MSLAAYCVICCRRIGTSTSPPKSGTHWRDIRNIIKFTGSLILGGSLFLTYEVLALKKAVTLDTQVVEREK      1 - 70
MKSYIYVHTVSLDKGENHGIAWQARKELHKAVRKVLATSAKILRNPFADPFSTVDIEDHECAVWLLLRKS     71 - 140
KSDDKTTRLEAVREMSETHHWHDYQYRIIAQACDPKTLIGLARSEESDLRFFLLPPPLPSLKEDSSTEEE    141 - 210
LRQLLASLPQTELDECIQYFTSLALSESSQSLAAQKGGLWCFGGNGLPYAESFGEVPSATVEMFCLEAIV    211 - 280
KHSEISTHCDKIEANGGLQLLQRLYRLHKDCPKVQRNIMRVIGNMALNEHLHSSIVRSGWVSIMAEAMKS    281 - 350
PHIMESSHAARILANLDRETVQEKYQDGVYVLHPQYRTSQPIKADVLFIHGLMGAAFKTWRQQDSEQAVI    351 - 420
EKPMEDEDRYTTCWPKTWLAKDCPALRIISVEYDTSLSDWRARCPMERKSIAFRSNELLRKLRAAGVGDR    421 - 490
PVVWISHSMGGLLVKKMLLEASTKPEMSTVINNTRGIIFYSVPHHGSRLAEYSVNIRYLLFPSLEVKELS    491 - 560
KDSPALKTLQDDFLEFAKDKNFQVLNFVETLPTYIGSMIKLHVVPVESADLGIGDLIPVDVNHLNICKPK    561 - 630
KKDAFLYQRTLQFIREALAKDLEN                                                  631 - 654
//

Text Mined References (13)

PMID Year Title
23918762 2013 Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome) caused by novel mutations in SERAC1.
23707711 Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria.
22683713 2012 Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.
21423545 2011 Autoantibodies to tailor-made panels of tumor-associated antigens in breast carcinoma.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
19282972 2009 Detection of alpha-rod protein repeats using a neural network and application to huntingtin.
16527507 2006 Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
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