Property Summary

NCBI Gene PubMed Count 17
PubMed Score 66.59
PubTator Score 21.53

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (3)

Disease Target Count P-value
ovarian cancer 8492 0.00129688461743776
invasive ductal carcinoma 2950 0.00264152621390238
Multiple myeloma 1328 0.00392073982071138

Expression

  Differential Expression (3)

Disease log2 FC p
Multiple myeloma 1.353 0.004
invasive ductal carcinoma -1.100 0.003
ovarian cancer 1.700 0.001

Synonym

Accession Q9UMS0 B4DUL9 Q53QE5 Q6VNZ8 Q7Z5B1 Q7Z5B2 Q9Y322
Symbols Nfu
NifU
HIRIP
MMDS1
NIFUC
CGI-33
HIRIP5

Gene

PDB

2LTM   2M5O  

  Ortholog (12)

Species Source
Chimp OMA EggNOG
Mouse OMA EggNOG Inparanoid
Rat OMA EggNOG Inparanoid
Dog OMA EggNOG Inparanoid
Horse OMA EggNOG Inparanoid
Cow OMA EggNOG Inparanoid
Opossum EggNOG Inparanoid
Xenopus OMA EggNOG Inparanoid
Zebrafish OMA EggNOG Inparanoid
C. elegans OMA Inparanoid
Fruitfly OMA Inparanoid
S.cerevisiae OMA EggNOG Inparanoid

Gene RIF (11)

PMID Text
26688339 a leaky splicing regulation due to a splice site mutation (c.545+5G>A) that produces small amounts of wild type NFU1 mRNA that might result in enough protein to partially lipoylate and restore the activity of lipoic acid-dependent enzymes and the assembly and activity of complex I.
25758857 A new NFU1 mutation is reported in a patient presenting with a milder phenotype characterized by a later onset, a slowly progressive spastic paraparesis with relapsing-remitting episodes, mild cognitive impairment and a long survival.
23179554 This study provides new insights into the molecular bases of NFU1 disease.
22190034 HIV-1 PR is identified to have a physical interaction with NFU1 iron-sulfur cluster scaffold homolog (NFU1) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses
22077971 A fatal mitochondrial disease is associated with defective NFU1 function in the maturation of a subset of mitochondrial Fe-S proteins
21944046 Mutations in iron-sulfur cluster scaffold genes NFU1 and BOLA3 cause a fatal deficiency of multiple respiratory chain and 2-oxoacid dehydrogenase enzymes [case report]
20877624 Observational study of gene-disease association. (HuGE Navigator)
19722697 NFU is a functionally competent reducing agent for cysteinyl persulfide bond cleavage, releasing inorganic sulfide for incorporation into the iron-sulfur-bound [2Fe-2S] cluster, a reactivity that may be facilitated by flexibility of the C-terminal domain.
19146390 NFU binds to NifS and reduces the persulfide bond on activated NifS (following formation of the persulfide bond by abstraction of S from the Cys amino acid), yielding inorganic sulfide on a time frame that is compatible with Fe-S cluster assembly.
12915448 Laforin interacts with HIRIP5.
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AA Sequence

MAATARRGWGAAAVAAGLRRRFCHMLKNPYTIKKQPLHQFVQRPLFPLPAAFYHPVRYMFIQTQDTPNPN      1 - 70
SLKFIPGKPVLETRTMDFPTPAAAFRSPLARQLFRIEGVKSVFFGPDFITVTKENEELDWNLLKPDIYAT     71 - 140
IMDFFASGLPLVTEETPSGEAGSEEDDEVVAMIKELLDTRIRPTVQEDGGDVIYKGFEDGIVQLKLQGSC    141 - 210
TSCPSSIITLKNGIQNMLQFYIPEVEGVEQVMDDESDEKEANSP                              211 - 254
//

Text Mined References (24)

PMID Year Title
26688339 2016 A leaky splicing mutation in NFU1 is associated with a particular biochemical phenotype. Consequences for the diagnosis.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25758857 2015 New spastic paraplegia phenotype associated to mutation of NFU1.
25416956 2014 A proteome-scale map of the human interactome network.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24129315 2014 Immunoaffinity enrichment and mass spectrometry analysis of protein methylation.
23179554 2013 Protein expression profiles in patients carrying NFU1 mutations. Contribution to the pathophysiology of the disease.
22190034 2011 Global landscape of HIV-human protein complexes.
22077971 2011 A fatal mitochondrial disease is associated with defective NFU1 function in the maturation of a subset of mitochondrial Fe-S proteins.
21944046 2011 Mutations in iron-sulfur cluster scaffold genes NFU1 and BOLA3 cause a fatal deficiency of multiple respiratory chain and 2-oxoacid dehydrogenase enzymes.
More...