Property Summary

NCBI Gene PubMed Count 13
PubMed Score 75.53
PubTator Score 15.85

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (4)

Disease log2 FC p
osteosarcoma -2.241 1.2e-04
lung cancer 1.100 8.2e-04
Breast cancer 3.000 3.5e-02
non primary Sjogren syndrome sicca 1.200 1.9e-02

Gene RIF (8)

PMID Text
24334290 Patients with GLRX5-associated variant nonketotic hyperglycemia had normal development with childhood-onset spastic paraplegia, spinal lesion, and optic atrophy.
21029046 crystal structure of GLRX5 revealed a tetrameric organization with the [2Fe-2S] clusters buried in the interior and shielded from the solvent by the conserved beta1-alpha2 loop
20877624 Observational study of gene-disease association. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20364084 Glutaredoxin 5 deficiency causes sideroblastic anemia by specifically impairing heme biosynthesis and depleting cytosolic iron in human erythroblasts
19731322 No GLRX5 mutations were found among sixty CSA probands examined
17485548 Mutations in GLRX5 is associated with sideroblastic-like microcytic anemia and iron overload
9325327 Treatment of diglutathionylated HIV-1 protease (positions 67 and 95) with thioltransferase (glutaredoxin) restores protease activity and generates an enzyme preparation that has 3- to 5-fold greater specific activity relative to the fully reduced form

AA Sequence

MSGSLGRAAAALLRWGRGAGGGGLWGPGVRAAGSGAGGGGSAEQLDALVKKDKVVVFLKGTPEQPQCGFS      1 - 70
NAVVQILRLHGVRDYAAYNVLDDPELRQGIKDYSNWPTIPQVYLNGEFVGGCDILLQMHQNGDLVEELKK     71 - 140
LGIHSALLDEKKDQDSK                                                         141 - 157
//

Text Mined References (17)

PMID Year Title
26100117 2016 Functional Analysis of GLRX5 Mutants Reveals Distinct Functionalities of GLRX5 Protein.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25342667 2014 Heterozygous missense mutations in the GLRX5 gene cause sideroblastic anemia in a Chinese patient.
24529757 2014 Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
24334290 2014 Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5.
23251661 2012 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
21269460 2011 Initial characterization of the human central proteome.
21029046 2011 The crystal structure of human GLRX5: iron-sulfur cluster co-ordination, tetrameric assembly and monomer activity.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20364084 2010 Glutaredoxin 5 deficiency causes sideroblastic anemia by specifically impairing heme biosynthesis and depleting cytosolic iron in human erythroblasts.
19731322 2010 Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17485548 2007 The human counterpart of zebrafish shiraz shows sideroblastic-like microcytic anemia and iron overload.
16110529 2005 Deficiency of glutaredoxin 5 reveals Fe-S clusters are required for vertebrate haem synthesis.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.