Property Summary

NCBI Gene PubMed Count 10
PubMed Score 7.60
PubTator Score 5.49

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (1)

Disease log2 FC p
osteosarcoma -1.499 0.000

Synonym

Accession Q5T440
Symbols MMDS3
SPG74
C1orf69

Gene

Gene RIF (5)

PMID Text
25609768 Findings reinforce the suggested specific function of IBA57 in mitochondrial [4Fe-4S] protein maturation and provide additional evidence for its role in hereditary spastic paraplegia
23462291 Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy.
22323289 ISCA1, ISCA2, and IBA57 were depleted by RNA interference. Depleted cells contained massively swollen and enlarged mitochondria that were virtually devoid of cristae membranes, demonstrating the importance of these proteins for mitochondrial biogenesis.
20877624 Observational study of gene-disease association. (HuGE Navigator)
19656490 Required for functional heme biosynthesis in erythroid cells.

AA Sequence

MATAALLRGATPGRGGPVWRWRLRAAPRCRLAHSSCSPGGDPTAGAAWACFRLDGRTLLRVRGPDAAPFL      1 - 70
LGLLTNELPLPSPAAAGAPPAARAGYAHFLNVQGRTLYDVILYGLQEHSEVSGFLLECDSSVQGALQKHL     71 - 140
ALYRIRRKVTVEPHPELRVWAVLPSSPEACGAASLQERAGAAAILIRDPRTARMGWRLLTQDEGPALVPG    141 - 210
GRLGDLWDYHQHRYLQGVPEGVRDLPPGVALPLESNLAFMNGVSFTKGCYIGQELTARTHHMGVIRKRLF    211 - 280
PVRFLDPLPTSGITPGATVLTASGQTVGKFRAGQGNVGLALLWSEKIKGPLHIRASEGAQVALAASVPDW    281 - 350
WPTVSK                                                                    351 - 356
//

Text Mined References (13)

PMID Year Title
25971455 2015 Mutation of the iron-sulfur cluster assembly gene IBA57 causes fatal infantile leukodystrophy.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25609768 2015 Fe/S protein assembly gene IBA57 mutation causes hereditary spastic paraplegia.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23462291 2013 Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy.
22681889 2012 The mRNA-bound proteome and its global occupancy profile on protein-coding transcripts.
22323289 2012 The human mitochondrial ISCA1, ISCA2, and IBA57 proteins are required for [4Fe-4S] protein maturation.
21269460 2011 Initial characterization of the human central proteome.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
19656490 2009 Discovery of genes essential for heme biosynthesis through large-scale gene expression analysis.
More...