NFS1
Cysteine desulfurase
Also known as: IscS, NFS1_HUMAN, NifS
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9Y697
- Gene
- NFS1
- Ensembl
- ENSG00000244005
- Chromosome
- 20
- Canonical length
- 457 aa
- Protein class
- Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Cytosol
- Quaternary structure
- Homodimer
OverviewNCBI Gene
Iron-sulfur clusters are required for the function of many cellular enzymes. The proteins encoded by this gene supply inorganic sulfur to these clusters by removing the sulfur from cysteine, creating alanine in the process. This gene uses alternate in-frame translation initiation sites to generate mitochondrial forms and cytoplasmic/nuclear forms. Selection of the alternative initiation sites is determined by the cytosolic pH. The encoded proteins belong to the class-V family of pyridoxal phosphate-dependent aminotransferases. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2010]
Canonical amino-acid sequenceUniProt
457 residues, UniProt reviewed canonical sequence.
>Q9Y697|NFS1
1 MLLRAAWRRA AVAVTAAPGP KPAAPTRGLR LRVGDRAPQS AVPADTAAAP EVGPVLRPLY
61 MDVQATTPLD PRVLDAMLPY LINYYGNPHS RTHAYGWESE AAMERARQQV ASLIGADPRE
121 IIFTSGATES NNIAIKGVAR FYRSRKKHLI TTQTEHKCVL DSCRSLEAEG FQVTYLPVQK
181 SGIIDLKELE AAIQPDTSLV SVMTVNNEIG VKQPIAEIGR ICSSRKVYFH TDAAQAVGKI
241 PLDVNDMKID LMSISGHKIY GPKGVGAIYI RRRPRVRVEA LQSGGGQERG MRSGTVPTPL
301 VVGLGAACEV AQQEMEYDHK RISKLSERLI QNIMKSLPDV VMNGDPKHHY PGCINLSFAY
361 VEGESLLMAL KDVALSSGSA CTSASLEPSY VLRAIGTDED LAHSSIRFGI GRFTTEEEVD
421 YTVEKCIQHV KRLREMSPLW EMVQDGIDLK SIKWTQHLocalizationUniProt · AlphaFold · HPA
Whether an antibody against NFS1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.29
- Highest tissue expression
- 39 nTPM
Expression across tissuesHPA
Tissue
- kidney: 39 nTPM
- liver: 35 nTPM
- tongue: 34 nTPM
- adrenal gland: 27 nTPM
- parathyroid gland: 24 nTPM
- skeletal muscle: 24 nTPM
Single-cell type
- myonuclei: 25 nCPM
- adipocytes: 20 nCPM
- cardiomyocytes: 19 nCPM
- distal convoluted tubule cells: 15 nCPM
- retinal ganglion cells: 12 nCPM
- mesothelial cells: 11 nCPM
Immune cell
- NK-cell: 11 nTPM
- T-reg: 9.7 nTPM
- myeloid DC: 9.3 nTPM
- memory CD8 T-cell: 8.9 nTPM
- memory B-cell: 8.3 nTPM
- naive CD4 T-cell: 7.8 nTPM
Brain region
- hypothalamus: 28 nTPM
- choroid plexus: 27 nTPM
- thalamus: 27 nTPM
- cerebellum: 27 nTPM
- pons: 27 nTPM
- cerebral cortex: 26 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about NFS1.
Disease | AllUniProt
Conditions NFS1 is implicated in, by any mechanism.
- Combined oxidative phosphorylation deficiency 52 (COXPD52) MIM:619386
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.53
- gnomAD pLI
- 0.06
- gnomAD missense Z
- 1.41
- DepMap mean gene effect
- -1.45
- DepMap dependency class
- pan
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 15% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- [2Fe-2S] cluster assembly
- [4Fe-4S] cluster assembly
- iron-sulfur cluster assembly
- Mo-molybdopterin cofactor biosynthetic process
Molecular functions
- iron-sulfur cluster binding
- metal ion binding
- protein homodimerization activity
- pyridoxal phosphate binding
- sulfur carrier activity
- cysteine desulfurase activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Aminotransferase class V domain
- Pyridoxal phosphate-dependent transferase, major domain
- Pyridoxal phosphate-dependent transferase, small domain
- Pyridoxal phosphate-dependent transferase
- Cysteine desulfurase
- Aminotransferase class-V, pyridoxal-phosphate binding site
- Aminotransferase class-V
- Cysteine desulfurase IscS
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of NFS1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads NFS1 as an antibody target. Whether an autoantibody or antibody against NFS1 could matter depends on whether native NFS1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
NFS1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label NFS1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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