InnateDB Protein
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IDBP-241861.7
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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NFU1
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Protein Name
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NFU1 iron-sulfur cluster scaffold homolog (S. cerevisiae)
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000377842
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InnateDB Gene
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IDBG-54874 (NFU1)
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Protein Structure
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Function |
Iron-sulfur cluster scaffold protein which can assemble [4Fe-2S] clusters and deliver them to target proteins. {ECO:0000269PubMed:12886008}.
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Subcellular Localization |
Mitochondrion. Cytoplasm, cytosol.
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Disease Associations |
Multiple mitochondrial dysfunctions syndrome 1 (MMDS1) [MIM:605711]: A severe disorder of systemic energy metabolism, resulting in weakness, respiratory failure, lack of neurologic development, lactic acidosis, hyperglycinemia and early death. Some patients show failure to thrive, pulmonary hypertension, hypotonia and irritability. Biochemical features include severe combined deficiency of the 2-oxoacid dehydrogenases, defective lipoic acid synthesis and reduction in activity of mitochondrial respiratory chain complexes. {ECO:0000269PubMed:21944046, ECO:0000269PubMed:22077971}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Ubiquitous. Expression in adult lung is weak compared to fetal lung. {ECO:0000269PubMed:12915448}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 7 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated |
Total |
7
[view]
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Protein-Protein |
7
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
2 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR001075
NIF system FeS cluster assembly, NifU, C-terminal
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PFAM |
PF01106
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q9UMS0
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PhosphoSite |
PhosphoSite-Q9UMS0
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TrEMBL |
F8W9P7
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UniProt Splice Variant |
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Entrez Gene |
27247
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UniGene |
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RefSeq |
NP_001002756
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HUGO |
HGNC:16287
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OMIM |
608100
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CCDS |
CCDS42694
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HPRD |
12163
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IMGT |
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EMBL |
AC114772
AF132967
AJ132584
AK300700
AK314004
AY286306
AY286307
AY335194
BC113692
BC113694
CH471053
DB304061
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GenPept |
AAD27742
AAI13693
AAI13695
AAP92372
AAP92373
AAQ73784
AAY14828
BAG36716
BAG62381
CAB53015
EAW99849
EAW99850
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