NFU1
entrez
27247
canonical
uniprot
Q9UMS0
canonical
ensembl
ENSG00000169599
resolver
ensp
ENSP00000306965
resolver
ensp
ENSP00000387219
resolver
ensp
ENSP00000418598
resolver
genesymbol
NFU1
resolver
genesymbol_syn
HIRIP5
resolver
hgnc
HGNC:16287
resolver
uniprot
B4DUL9
resolver
uniprot
Q53QE5
resolver
uniprot
Q6VNZ8
resolver
uniprot
Q7Z5B1
resolver
uniprot
Q7Z5B2
resolver
uniprot
Q9Y322
resolver
uniprot_entry
NFU1_HUMAN
resolver
uniprot_sec
B4DUL9
resolver
uniprot_sec
Q53QE5
resolver
uniprot_sec
Q6VNZ8
resolver
uniprot_sec
Q7Z5B1
resolver
uniprot_sec
Q7Z5B2
resolver
uniprot_sec
Q9Y322
resolver
amino_acid_sequence
MAATARRGWGAAAVAAGLRRRFCHMLKNPYTIKKQPLHQFVQRPLFPLPAAFYHPVRYMFIQTQDTPNPNSLKFIPGKPVLETRTMDFPTPAAAFRSPLARQLFRIEGVKSVFFGPDFITVTKENEELDWNLLKPDIYATIMDFFASGLPLVTEETPSGEAGSEEDDEVVAMIKELLDTRIRPTVQEDGGDVIYKGFEDGIVQLKLQGSCTSCPSSIITLKNGIQNMLQFYIPEVEGVEQVMDDESDEKEANSP
uniprot
proteins
disease_involvement
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:25477904, 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.; DISEASE: Spastic paraplegia 93, autosomal recessive (SPG93) [MIM:620938]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. Some SPG93 patients have neurodevelopmental delay with severe hypotonia. {ECO:0000269|PubMed:36256512}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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}.
uniprot
proteins
mass_dalton
28463
uniprot
proteins
mutagenesis
MUTAGEN 189; /note="G->A: 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."; /evidence="ECO:0000269|PubMed:28906594"; MUTAGEN 189; /note="G->K: 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."; /evidence="ECO:0000269|PubMed:28906594
uniprot
proteins
protein_family
NifU family
uniprot
proteins
pubmed
10810093
uniprot
proteins
pubmed
11342215
uniprot
proteins
pubmed
12886008
uniprot
proteins
pubmed
12915448
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21944046
uniprot
proteins
pubmed
22077971
uniprot
proteins
pubmed
24129315
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25477904
uniprot
proteins
pubmed
25918518
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
26702583
uniprot
proteins
pubmed
27532772
uniprot
proteins
pubmed
27818104
uniprot
proteins
pubmed
28161430
uniprot
proteins
pubmed
28906594
uniprot
proteins
pubmed
36256512
uniprot
proteins
sequence_length
254
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion. Cytoplasm, cytosol.
uniprot
proteins