Q9UMS0 · NFU1_HUMAN
- ProteinNFU1 iron-sulfur cluster scaffold homolog, mitochondrial
- GeneNFU1
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids254 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
Iron-sulfur cluster scaffold protein which can assemble [4Fe-4S] clusters and deliver them to target proteins.
Features
Showing features for binding site.
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
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Aspect | Term | |
---|---|---|
Cellular Component | cytosol | |
Cellular Component | mitochondrial matrix | |
Cellular Component | mitochondrion | |
Cellular Component | nucleoplasm | |
Cellular Component | nucleus | |
Molecular Function | 4 iron, 4 sulfur cluster binding | |
Molecular Function | iron ion binding | |
Biological Process | iron-sulfur cluster assembly | |
Biological Process | protein maturation by [4Fe-4S] cluster transfer |
Keywords
- Ligand
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameNFU1 iron-sulfur cluster scaffold homolog, mitochondrial
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionQ9UMS0
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
Disease & Variants
Involvement in disease
Multiple mitochondrial dysfunctions syndrome 1 (MMDS1)
- Note
- DescriptionA 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.
- See alsoMIM:605711
Natural variants in MMDS1
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_079757 | 21 | R>P | in MMDS1; patient's skeletal muscles and fibroblasts show deficiency of mitochondrial respiratory chain complexes; dbSNP:rs776875884 | |
VAR_079758 | 182 | R>W | in MMDS1; patient's skin fibroblasts show deficiency of lipoic acid synthase and reduced lipoic acid content; dbSNP:rs1354126704 | |
VAR_079759 | 189 | G>R | in MMDS1; alters protein structure; increases likelihood of existing as monomer; decreases ability to receive a Fe/S clusters from donor proteins; decreases delivery rates of [2Fe-2S] cluster to target proteins; dbSNP:rs2104735490 | |
VAR_079760 | 190 | G>R | in MMDS1; uncertain significance | |
VAR_066639 | 208 | G>C | in MMDS1; patient's skeletal muscles and fibroblasts show deficiency of mitochondrial respiratory chain complexes; increases homodimerization; unable to receive a Fe/S clusters from donor proteins; changes delivery rates of [2Fe-2S] cluster to target proteins; dbSNP:rs374514431 |
Features
Showing features for natural variant, mutagenesis.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_079757 | 21 | in MMDS1; patient's skeletal muscles and fibroblasts show deficiency of mitochondrial respiratory chain complexes; dbSNP:rs776875884 | |||
Sequence: R → P | ||||||
Natural variant | VAR_044429 | 25 | in dbSNP:rs4453725 | |||
Sequence: M → K | ||||||
Natural variant | VAR_079758 | 182 | in MMDS1; patient's skin fibroblasts show deficiency of lipoic acid synthase and reduced lipoic acid content; dbSNP:rs1354126704 | |||
Sequence: R → W | ||||||
Natural variant | VAR_079759 | 189 | in MMDS1; alters protein structure; increases likelihood of existing as monomer; decreases ability to receive a Fe/S clusters from donor proteins; decreases delivery rates of [2Fe-2S] cluster to target proteins; dbSNP:rs2104735490 | |||
Sequence: G → R | ||||||
Mutagenesis | 189 | Alters protein structure. Increases likelihood of existing as monomer. Decreases ability to receive a Fe/S clusters from donor proteins. Decreases delivery rates of [2Fe-2S] cluster to target proteins. | ||||
Sequence: G → A | ||||||
Mutagenesis | 189 | Alters protein structure. Increases likelihood of existing as monomer. Decreases ability to receive a Fe/S clusters from donor proteins. Decreases delivery rates of [2Fe-2S] cluster to target proteins. | ||||
Sequence: G → K | ||||||
Natural variant | VAR_079760 | 190 | in MMDS1; uncertain significance | |||
Sequence: G → R | ||||||
Natural variant | VAR_066639 | 208 | in MMDS1; patient's skeletal muscles and fibroblasts show deficiency of mitochondrial respiratory chain complexes; increases homodimerization; unable to receive a Fe/S clusters from donor proteins; changes delivery rates of [2Fe-2S] cluster to target proteins; dbSNP:rs374514431 | |||
Sequence: G → C |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 305 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for transit peptide, chain.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Transit peptide | 1-9 | Mitochondrion | ||||
Sequence: MAATARRGW | ||||||
Chain | PRO_0000166191 | 10-254 | NFU1 iron-sulfur cluster scaffold homolog, mitochondrial | |||
Sequence: GAAAVAAGLRRRFCHMLKNPYTIKKQPLHQFVQRPLFPLPAAFYHPVRYMFIQTQDTPNPNSLKFIPGKPVLETRTMDFPTPAAAFRSPLARQLFRIEGVKSVFFGPDFITVTKENEELDWNLLKPDIYATIMDFFASGLPLVTEETPSGEAGSEEDDEVVAMIKELLDTRIRPTVQEDGGDVIYKGFEDGIVQLKLQGSCTSCPSSIITLKNGIQNMLQFYIPEVEGVEQVMDDESDEKEANSP |
Proteomic databases
PTM databases
Expression
Tissue specificity
Ubiquitous. Expression in adult lung is weak compared to fetal lung.
Developmental stage
Expressed in embryo and adult.
Gene expression databases
Organism-specific databases
Interaction
Subunit
Monomer and homohexamer; the apo-NFU1 is a monomer, while the holo-NFU1 is a hexamer composed of a trimer of dimer that is probably linked by some 4Fe-4S cluster (PubMed:27818104).
Interacts with HIRA and EPM2A/laforin (PubMed:12915448).
Interacts with BOLA3 (PubMed:27532772).
Interacts with HSPA9 (PubMed:26702583).
Interacts with HIRA and EPM2A/laforin (PubMed:12915448).
Interacts with BOLA3 (PubMed:27532772).
Interacts with HSPA9 (PubMed:26702583).
Binary interactions
Protein-protein interaction databases
Miscellaneous
Structure
Family & Domains
Features
Showing features for region.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Region | 173-241 | NifU | ||||
Sequence: IKELLDTRIRPTVQEDGGDVIYKGFEDGIVQLKLQGSCTSCPSSIITLKNGIQNMLQFYIPEVEGVEQV |
Sequence similarities
Belongs to the NifU family.
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence & Isoforms
- Sequence statusComplete
- Sequence processingThe displayed sequence is further processed into a mature form.
This entry describes 3 isoforms produced by Alternative splicing.
Q9UMS0-1
This isoform has been chosen as the canonical sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
- Name1
- Length254
- Mass (Da)28,463
- Last updated2008-09-02 v2
- ChecksumE84B7F47A4A282CF
Q9UMS0-2
- Name2
- Differences from canonical
- 1-141: Missing
Q9UMS0-3
- Name3
- Differences from canonical
- 1-24: Missing
Computationally mapped potential isoform sequences
There are 5 potential isoforms mapped to this entry
Sequence caution
Features
Showing features for alternative sequence, sequence conflict.
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AJ132584 EMBL· GenBank· DDBJ | CAB53015.1 EMBL· GenBank· DDBJ | mRNA | Different initiation | |
AY335194 EMBL· GenBank· DDBJ | AAQ73784.1 EMBL· GenBank· DDBJ | mRNA | ||
AY286306 EMBL· GenBank· DDBJ | AAP92372.1 EMBL· GenBank· DDBJ | mRNA | ||
AY286307 EMBL· GenBank· DDBJ | AAP92373.1 EMBL· GenBank· DDBJ | mRNA | ||
AF132967 EMBL· GenBank· DDBJ | AAD27742.1 EMBL· GenBank· DDBJ | mRNA | Frameshift | |
AK314004 EMBL· GenBank· DDBJ | BAG36716.1 EMBL· GenBank· DDBJ | mRNA | Different initiation | |
AK300700 EMBL· GenBank· DDBJ | BAG62381.1 EMBL· GenBank· DDBJ | mRNA | ||
DB304061 EMBL· GenBank· DDBJ | - | mRNA | No translation available. | |
AC114772 EMBL· GenBank· DDBJ | AAY14828.1 EMBL· GenBank· DDBJ | Genomic DNA | Sequence problems. | |
CH471053 EMBL· GenBank· DDBJ | EAW99849.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
CH471053 EMBL· GenBank· DDBJ | EAW99850.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
BC113692 EMBL· GenBank· DDBJ | AAI13693.1 EMBL· GenBank· DDBJ | mRNA | ||
BC113694 EMBL· GenBank· DDBJ | AAI13695.1 EMBL· GenBank· DDBJ | mRNA |