Property Summary

NCBI Gene PubMed Count 24
PubMed Score 37.54
PubTator Score 66.53

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (3)

Disease Target Count P-value
osteosarcoma 7933 1.7e-06
medulloblastoma, large-cell 6234 2.1e-06
medulloblastoma 1524 3.5e-05
ovarian cancer 8491 4.9e-05
Disease Target Count Z-score Confidence
Friedreich ataxia 23 6.112 3.1

Expression

  Differential Expression (4)

Disease log2 FC p
osteosarcoma 1.349 1.7e-06
medulloblastoma -1.200 3.5e-05
medulloblastoma, large-cell -1.400 2.1e-06
ovarian cancer 1.200 4.9e-05

Gene RIF (10)

PMID Text
26342079 Our findings highlight that the ISD11 R68A/R68L mutation display reduced affinity to form a stable subcomplex with NFS1, and thereby fails to prevent NFS1 aggregation resulting in impairment of the Fe-S cluster biogenesis
24217246 The data presented here show that the Isu1 suppressor mimics the frataxin effects on Nfs1, explaining the bypassing activity.
23940031 NFS1 binds preferentially to the D-state of ISCU while mtHSP70 binds preferentially to the D-state of ISCU and HSC20 binds preferentially to the S-state of ISCU.
23593335 the interaction of NFS1 and MOCS3 in the cytosol of human cells, is reported.
22689995 Nfs1, the cysteine desulfurase responsible for providing sulfur for cluster formation, is required for the increased Isu stability occurring after disruption of cluster formation on or transfer from Isu
20877624 Observational study of gene-disease association. (HuGE Navigator)
19720832 Icp55 protease and its substrate Nfs1 appear to be dual distributed between the nucleus and mitochondria
18650437 Nfs1 acts as a sulfur donor for MOCS3, a protein involved in molybdenum cofactor biosynthesis
16847322 Results show that human Nfs1 is required inside mitochondria for efficient maturation of cellular iron/sulfur proteins.
16527810 the cytosolic form of ISCS is a functional cysteine desulfurase that can collaborate with cytosolic ISCU to promote de novo iron-sulfur cluster formation

AA Sequence

MLLRAAWRRAAVAVTAAPGPKPAAPTRGLRLRVGDRAPQSAVPADTAAAPEVGPVLRPLYMDVQATTPLD      1 - 70
PRVLDAMLPYLINYYGNPHSRTHAYGWESEAAMERARQQVASLIGADPREIIFTSGATESNNIAIKGVAR     71 - 140
FYRSRKKHLITTQTEHKCVLDSCRSLEAEGFQVTYLPVQKSGIIDLKELEAAIQPDTSLVSVMTVNNEIG    141 - 210
VKQPIAEIGRICSSRKVYFHTDAAQAVGKIPLDVNDMKIDLMSISGHKIYGPKGVGAIYIRRRPRVRVEA    211 - 280
LQSGGGQERGMRSGTVPTPLVVGLGAACEVAQQEMEYDHKRISKLSERLIQNIMKSLPDVVMNGDPKHHY    281 - 350
PGCINLSFAYVEGESLLMALKDVALSSGSACTSASLEPSYVLRAIGTDEDLAHSSIRFGIGRFTTEEEVD    351 - 420
YTVEKCIQHVKRLREMSPLWEMVQDGIDLKSIKWTQH                                     421 - 457
//

Text Mined References (27)

PMID Year Title
26342079 2015 Mapping Key Residues of ISD11 Critical for NFS1-ISD11 Subcomplex Stability: IMPLICATIONS IN THE DEVELOPMENT OF MITOCHONDRIAL DISORDER, COXPD19.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
24217246 2013 Frataxin directly stimulates mitochondrial cysteine desulfurase by exposing substrate-binding sites, and a mutant Fe-S cluster scaffold protein with frataxin-bypassing ability acts similarly.
23940031 2013 Human mitochondrial chaperone (mtHSP70) and cysteine desulfurase (NFS1) bind preferentially to the disordered conformation, whereas co-chaperone (HSC20) binds to the structured conformation of the iron-sulfur cluster scaffold protein (ISCU).
23593335 2013 The L-cysteine desulfurase NFS1 is localized in the cytosol where it provides the sulfur for molybdenum cofactor biosynthesis in humans.
22689995 2012 Cysteine desulfurase Nfs1 and Pim1 protease control levels of Isu, the Fe-S cluster biogenesis scaffold.
21269460 2011 Initial characterization of the human central proteome.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20873749 2010 Human frataxin is an allosteric switch that activates the Fe-S cluster biosynthetic complex.
19720832 2009 Dual targeting of Nfs1 and discovery of its novel processing enzyme, Icp55.
19454487 2009 Human ISD11 is essential for both iron-sulfur cluster assembly and maintenance of normal cellular iron homeostasis.
18650437 2008 A novel role for human Nfs1 in the cytoplasm: Nfs1 acts as a sulfur donor for MOCS3, a protein involved in molybdenum cofactor biosynthesis.
17567994 2007 Prominent use of distal 5' transcription start sites and discovery of a large number of additional exons in ENCODE regions.
17474147 2007 Systematic identification of SH3 domain-mediated human protein-protein interactions by peptide array target screening.
17207965 2007 hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes.
16847322 2006 Role of human mitochondrial Nfs1 in cytosolic iron-sulfur protein biogenesis and iron regulation.
16527810 2006 Roles of the mammalian cytosolic cysteine desulfurase, ISCS, and scaffold protein, ISCU, in iron-sulfur cluster assembly.
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.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11780052 2001 The DNA sequence and comparative analysis of human chromosome 20.
11256614 2000 Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing.
11124703 2001 Characterization of 16 novel human genes showing high similarity to yeast sequences.
11060020 2000 Distinct iron-sulfur cluster assembly complexes exist in the cytosol and mitochondria of human cells.
9885568 1998 Targeting of a human iron-sulfur cluster assembly enzyme, nifs, to different subcellular compartments is regulated through alternative AUG utilization.
8125298 1994 Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.