NFS1
entrez
9054
canonical
uniprot
Q9Y697
canonical
ensembl
ENSG00000244005
resolver
ensp
ENSP00000363205
resolver
ensp
ENSP00000440897
resolver
genesymbol
NFS1
resolver
genesymbol_syn
NIFS
resolver
hgnc
HGNC:15910
resolver
uniprot
B3KMA5
resolver
uniprot
B4DXK9
resolver
uniprot
E1P5R8
resolver
uniprot
F5GYK5
resolver
uniprot
Q53FP3
resolver
uniprot
Q6P0L8
resolver
uniprot
Q9NTZ5
resolver
uniprot
Q9Y481
resolver
uniprot_entry
NFS1_HUMAN
resolver
uniprot_entry
Q53FP3_HUMAN
resolver
uniprot_sec
B3KMA5
resolver
uniprot_sec
B4DXK9
resolver
uniprot_sec
E1P5R8
resolver
uniprot_sec
F5GYK5
resolver
uniprot_sec
Q6P0L8
resolver
uniprot_sec
Q9NTZ5
resolver
uniprot_sec
Q9Y481
resolver
activity_regulation
ACTIVITY REGULATION: Active only in complex with LYRM4. {ECO:0000269|PubMed:18650437}.
uniprot
proteins
amino_acid_sequence
MLLRAAWRRAAVAVTAAPGPKPAAPTRGLRLRVGDRAPQSAVPADTAAAPEVGPVLRPLYMDVQATTPLDPRVLDAMLPYLINYYGNPHSRTHAYGWESEAAMERARQQVASLIGADPREIIFTSGATESNNIAIKGVARFYRSRKKHLITTQTEHKCVLDSCRSLEAEGFQVTYLPVQKSGIIDLKELEAAIQPDTSLVSVMTVNNEIGVKQPIAEIGRICSSRKVYFHTDAAQAVGKIPLDVNDMKIDLMSISGHKIYGPKGVGAIYIRRRPRVRVEALQSGGGQERGMRSGTVPTPLVVGLGAACEVAQQEMEYDHKRISKLSERLIQNIMKSLPDVVMNGDPKHHYPGCINLSFAYVEGESLLMALKDVALSSGSACTSASLEPSYVLRAIGTDEDLAHSSIRFGIGRFTTEEEVDYTVEKCIQHVKRLREMSPLWEMVQDGIDLKSIKWTQH
uniprot
proteins
disease_involvement
DISEASE: Combined oxidative phosphorylation deficiency 52 (COXPD52) [MIM:619386]: An autosomal recessive mitochondrial disorder with onset in infancy, characterized by lactic acidemia, hypotonia, respiratory chain complex II and III deficiency, multisystem organ failure and abnormal mitochondria. {ECO:0000269|PubMed:24498631, ECO:0000269|PubMed:33457206}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.8.1.7
uniprot
proteins
function
FUNCTION: [Isoform Mitochondrial]: Cysteine desulfurase, of the core iron-sulfur cluster (ISC) assembly complex, that catalyzes the desulfuration of L-cysteine to L-alanine, as component of the cysteine desulfurase complex, leading to the formation of a cysteine persulfide intermediate at the active site cysteine residue and participates in the [2Fe-2S] clusters assembly on the scaffolding protein ISCU (PubMed:18650437, PubMed:29097656, PubMed:31101807). The persulfide is then transferred on the flexible Cys loop from the catalytic site of NFS1 to the surface of NFS1 (PubMed:29097656). After the NFS1-linked persulfide sulfur is transferred to one of the conserved Cys residues of the scaffold, a reaction assisted by FXN (By similarity). 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 (By similarity). {ECO:0000250|UniProtKB:Q9H1K1, ECO:0000250|UniProtKB:Q9Z1J3, ECO:0000269|PubMed:18650437, ECO:0000269|PubMed:29097656, ECO:0000269|PubMed:31101807}.; FUNCTION: [Isoform Cytosolic]: May catalyze the desulfuration of L-cysteine to L-alanine as component of the cysteine desulfurase complex (NFS1:LYRM4), leading to the formation of a cysteine persulfide intermediate (PubMed:16527810, PubMed:18650437). Acts as a sulfur donor for MOCS3 by transferring the sulfur of the cysteine persulfide intermediate on MOCS3 (PubMed:18650437, PubMed:23593335). {ECO:0000269|PubMed:16527810, ECO:0000269|PubMed:18650437, ECO:0000269|PubMed:23593335}.
uniprot
proteins
mass_dalton
50196
uniprot
proteins
post_translational_modification
PTM: N-gluconoylated. {ECO:0000250|UniProtKB:Q9Z1J3}.; PTM: Cysteine persulfide intermediate is reduced by thiol-containing molecules like glutathione and L-cysteine. Persulfide reduction is a rate-limiting step of cysteine desulfurase catalytic cycle. {ECO:0000250|UniProtKB:Q9Z1J3}.
uniprot
proteins
protein_family
Class-V pyridoxal-phosphate-dependent aminotransferase family
uniprot
proteins
protein_family
NifS/IscS subfamily
uniprot
proteins
pubmed
11060020
uniprot
proteins
pubmed
11124703
uniprot
proteins
pubmed
11780052
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16527810
uniprot
proteins
pubmed
18650437
uniprot
proteins
pubmed
19454487
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21298097
uniprot
proteins
pubmed
23593335
uniprot
proteins
pubmed
23940031
uniprot
proteins
pubmed
24498631
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
26702583
uniprot
proteins
pubmed
29097656
uniprot
proteins
pubmed
30817134
uniprot
proteins
pubmed
31101807
uniprot
proteins
pubmed
31664822
uniprot
proteins
pubmed
33457206
uniprot
proteins
pubmed
34824239
uniprot
proteins
pubmed
9885568
uniprot
proteins
sequence_length
457
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: [Isoform Mitochondrial]: Mitochondrion {ECO:0000269|PubMed:19454487, ECO:0000269|PubMed:23593335, ECO:0000269|PubMed:26702583, ECO:0000269|PubMed:30817134, ECO:0000269|PubMed:9885568}.; SUBCELLULAR LOCATION: [Isoform Cytosolic]: Cytoplasm, cytosol {ECO:0000269|PubMed:23593335, ECO:0000269|PubMed:30817134, ECO:0000269|PubMed:9885568}. Nucleus {ECO:0000269|PubMed:19454487, ECO:0000269|PubMed:23593335, ECO:0000269|PubMed:9885568}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:30817134}.
uniprot
proteins