UniProt functional annotation for Q9UMS0



	UniProt functional annotation for Q9UMS0

UniProt code: Q9UMS0.

Organism: Homo sapiens (Human).

Taxonomy: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.

Function: Iron-sulfur cluster scaffold protein which can assemble [4Fe- 4S] clusters and deliver them to target proteins. {ECO:0000269|PubMed:12886008, ECO:0000269|PubMed:27818104, ECO:0000269|PubMed:28906594}.

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). {ECO:0000269|PubMed:12915448, ECO:0000269|PubMed:26702583, ECO:0000269|PubMed:27532772, ECO:0000269|PubMed:27818104}.

Subcellular location: Mitochondrion. Cytoplasm, cytosol.

Tissue specificity: Ubiquitous. Expression in adult lung is weak compared to fetal lung. {ECO:0000269|PubMed:12915448}.

Developmental stage: Expressed in embryo and adult. {ECO:0000269|PubMed:12915448}.

Disease: 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:0000269|PubMed:21944046, ECO:0000269|PubMed:22077971, ECO:0000269|PubMed:25918518, ECO:0000269|PubMed:28161430, ECO:0000269|PubMed:28906594}. Note=The disease is caused by variants affecting the gene represented in this entry.

Similarity: Belongs to the NifU family. {ECO:0000305}.

Sequence caution: Sequence=AAD27742.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=AAY14828.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=BAG36716.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=CAB53015.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

Annotations taken from UniProtKB at the EBI.


Organism:		Homo sapiens (Human).
Taxonomy:		Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.



Function:		Iron-sulfur cluster scaffold protein which can assemble [4Fe- 4S] clusters and deliver them to target proteins. {ECO:0000269\|PubMed:12886008, ECO:0000269\|PubMed:27818104, ECO:0000269\|PubMed:28906594}.


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). {ECO:0000269\|PubMed:12915448, ECO:0000269\|PubMed:26702583, ECO:0000269\|PubMed:27532772, ECO:0000269\|PubMed:27818104}.
Subcellular location:		Mitochondrion. Cytoplasm, cytosol.
Tissue specificity:		Ubiquitous. Expression in adult lung is weak compared to fetal lung. {ECO:0000269\|PubMed:12915448}.
Developmental stage:		Expressed in embryo and adult. {ECO:0000269\|PubMed:12915448}.
Disease:		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:0000269\|PubMed:21944046, ECO:0000269\|PubMed:22077971, ECO:0000269\|PubMed:25918518, ECO:0000269\|PubMed:28161430, ECO:0000269\|PubMed:28906594}. Note=The disease is caused by variants affecting the gene represented in this entry.
Similarity:		Belongs to the NifU family. {ECO:0000305}.
Sequence caution:		Sequence=AAD27742.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=AAY14828.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=BAG36716.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=CAB53015.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};