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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Human disease related genes
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
12
Cytoband
q23.3
Chromosome location (bp)
108562582 - 108569368
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
[Isoform 1]: Mitochondrial scaffold protein, of the core iron-sulfur cluster (ISC) assembly complex, that provides the structural architecture on which the [2Fe-2S] clusters are assembled 1. The core iron-sulfur cluster (ISC) assembly complex is involved in the de novo synthesis of a [2Fe-2S] cluster, the first step of the mitochondrial iron-sulfur protein biogenesis. This process is initiated by the cysteine desulfurase complex (NFS1:LYRM4:NDUFAB1) that produces persulfide which is delivered on the scaffold protein ISCU in a FXN-dependent manner. Then this complex is stabilized by FDX2 which provides reducing equivalents to accomplish the [2Fe-2S] cluster assembly. Finally, the [2Fe-2S] cluster is transferred from ISCU to chaperone proteins, including HSCB, HSPA9 and GLRX5 2,3,4,5 (Probable). Exists as two slow interchanging conformational states, a structured (S) and disordered (D) form 6. May modulate NFS1 desulfurase activity in a zinc-dependent manner 7. Modulates the interaction between FXN and the cysteine desulfurase complex 8....show less
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
Iron, Metal-binding
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a component of the iron-sulfur (Fe-S) cluster scaffold. Fe-S clusters are cofactors that play a role in the function of a diverse set of enzymes, including those that regulate metabolism, iron homeostasis, and oxidative stress response. Alternative splicing results in transcript variants encoding different protein isoforms that localize either to the cytosol or to the mitochondrion. Mutations in this gene have been found in patients with hereditary myopathy with lactic acidosis. A disease-associated mutation in an intron may activate a cryptic splice site, resulting in the production of a splice variant encoding a putatively non-functional protein. A pseudogene of this gene is present on chromosome 1. [provided by RefSeq, Feb 2016]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Congenital disorders of metabolism Mitochondrial diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0005506[iron ion binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0005739[mitochondrion] GO:0005759[mitochondrial matrix] GO:0005829[cytosol] GO:0006879[cellular iron ion homeostasis] GO:0008198[ferrous iron binding] GO:0008270[zinc ion binding] GO:0016226[iron-sulfur cluster assembly] GO:0042803[protein homodimerization activity] GO:0044571[[2Fe-2S] cluster assembly] GO:0044572[[4Fe-4S] cluster assembly] GO:0046872[metal ion binding] GO:0051536[iron-sulfur cluster binding] GO:0051537[2 iron, 2 sulfur cluster binding] GO:0055072[iron ion homeostasis] GO:0060090[molecular adaptor activity] GO:0099128[mitochondrial iron-sulfur cluster assembly complex] GO:1902958[positive regulation of mitochondrial electron transport, NADH to ubiquinone] GO:1904234[positive regulation of aconitate hydratase activity] GO:1904439[negative regulation of iron ion import across plasma membrane] GO:1990229[iron-sulfur cluster assembly complex]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Congenital disorders of metabolism Mitochondrial diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0005506[iron ion binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0005739[mitochondrion] GO:0005759[mitochondrial matrix] GO:0005829[cytosol] GO:0006879[cellular iron ion homeostasis] GO:0008198[ferrous iron binding] GO:0008270[zinc ion binding] GO:0016226[iron-sulfur cluster assembly] GO:0042803[protein homodimerization activity] GO:0044571[[2Fe-2S] cluster assembly] GO:0044572[[4Fe-4S] cluster assembly] GO:0046872[metal ion binding] GO:0051536[iron-sulfur cluster binding] GO:0051537[2 iron, 2 sulfur cluster binding] GO:0055072[iron ion homeostasis] GO:0060090[molecular adaptor activity] GO:0099128[mitochondrial iron-sulfur cluster assembly complex] GO:1902958[positive regulation of mitochondrial electron transport, NADH to ubiquinone] GO:1904234[positive regulation of aconitate hydratase activity] GO:1904439[negative regulation of iron ion import across plasma membrane] GO:1990229[iron-sulfur cluster assembly complex]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Mitochondrial diseases Protein evidence (Ezkurdia et al 2014)
B4DNC9 [Direct mapping] Iron-sulfur cluster assembly enzyme ISCU, mitochondrial; cDNA FLJ51257, highly similar to NifU-like N-terminal domain-containing protein, mitochondrial
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Mitochondrial diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Mitochondrial diseases Protein evidence (Ezkurdia et al 2014)
B4DNC9 [Direct mapping] Iron-sulfur cluster assembly enzyme ISCU, mitochondrial; cDNA FLJ51257, highly similar to NifU-like N-terminal domain-containing protein, mitochondrial
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Mitochondrial diseases Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
