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 i... See more...

Aliases for NFS1 Gene

Aliases for NFS1 Gene

  • NFS1 Cysteine Desulfurase 2 3 5
  • Nitrogen Fixation 1 (S. Cerevisiae, Homolog) 2 3
  • Cysteine Desulfurase, Mitochondrial 3 4
  • EC 2.8.1.7 4 52
  • NIFS 3 4
  • NFS1 Nitrogen Fixation 1 Homolog (S. Cerevisiae) 2
  • Nitrogen-Fixing Bacteria S-Like Protein 3
  • NFS1 Nitrogen Fixation 1 Homolog 3
  • HUSSY-08 3
  • IscS 3

External Ids for NFS1 Gene

Previous GeneCards Identifiers for NFS1 Gene

  • GC20U990032
  • GC20M033975
  • GC20M034925
  • GC20M034972
  • GC20M033720
  • GC20M034256
  • GC20M034220
  • GC20M031036
  • GC20M034255

Summaries for NFS1 Gene

Entrez Gene Summary for NFS1 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]

GeneCards Summary for NFS1 Gene

NFS1 (NFS1 Cysteine Desulfurase) is a Protein Coding gene. Diseases associated with NFS1 include Combined Oxidative Phosphorylation Deficiency 19 and Xanthinuria. Among its related pathways are Metabolism of water-soluble vitamins and cofactors and Mitochondrial iron-sulfur cluster biogenesis. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and lyase activity. An important paralog of this gene is SCLY.

UniProtKB/Swiss-Prot Summary for NFS1 Gene

  • Catalyzes the removal of elemental sulfur from cysteine to produce alanine. It supplies the inorganic sulfur for iron-sulfur (Fe-S) clusters. May be involved in the biosynthesis of molybdenum cofactor.

Gene Wiki entry for NFS1 Gene

Additional gene information for NFS1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NFS1 Gene

Genomics for NFS1 Gene

GeneHancer (GH) Regulatory Elements for NFS1 Gene

Promoters and enhancers for NFS1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NFS1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NFS1

Top Transcription factor binding sites by QIAGEN in the NFS1 gene promoter:
  • AML1a
  • C/EBPalpha
  • GR
  • GR-alpha
  • GR-beta
  • Msx-1
  • NF-kappaB
  • NF-kappaB1
  • Pbx1a
  • ZIC2

Genomic Locations for NFS1 Gene

Genomic Locations for NFS1 Gene
chr20:35,668,052-35,699,365
(GRCh38/hg38)
Size:
31,314 bases
Orientation:
Minus strand
chr20:34,255,977-34,287,287
(GRCh37/hg19)
Size:
31,311 bases
Orientation:
Minus strand

Genomic View for NFS1 Gene

Genes around NFS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NFS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NFS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NFS1 Gene

Proteins for NFS1 Gene

  • Protein details for NFS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y697-NFS1_HUMAN
    Recommended name:
    Cysteine desulfurase, mitochondrial
    Protein Accession:
    Q9Y697
    Secondary Accessions:
    • B3KMA5
    • B4DXK9
    • E1P5R8
    • F5GYK5
    • Q6P0L8
    • Q9NTZ5
    • Q9Y481

    Protein attributes for NFS1 Gene

    Size:
    457 amino acids
    Molecular mass:
    50196 Da
    Cofactor:
    Name=pyridoxal 5'-phosphate; Xref=ChEBI:CHEBI:597326;
    Quaternary structure:
    • Binds ISCU/NIFUN (PubMed:11060020). Forms a complex with LYRM4 (PubMed:18650437, PubMed:19454487). Interacts with HSPA9 (PubMed:26702583).

    Three dimensional structures from OCA and Proteopedia for NFS1 Gene

    Alternative splice isoforms for NFS1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NFS1 Gene

Selected DME Specific Peptides for NFS1 Gene

Q9Y697:
  • GGGQERG
  • SFAYVEGE
  • SPLWEMVQ
  • ATTPLDPRV
  • EIIFTSGATE
  • SSGSACTS
  • AHSSIRF
  • VNNEIGV
  • GRFTTEEE
  • TSGATES
  • KGVARFY
  • HKIYGPKG
  • FHTDAAQA
  • EGESLLM

Post-translational modifications for NFS1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for NFS1 Gene

Gene Families for NFS1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for NFS1 Gene

Suggested Antigen Peptide Sequences for NFS1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ57724, highly similar to Cysteine desulfurase, mitochondrial (EC 2.8.1.7) (B4DHP7_HUMAN)
  • cDNA FLJ60737, highly similar to Cysteine desulfurase, mitochondrial (EC 2.8.1.7) (B4DNL7_HUMAN)
  • Cysteine desulfurase, mitochondrial (NFS1_HUMAN)
  • cDNA FLJ31680 fis, clone NT2RI2005246, highly similar to Cysteine desulfurase, mitochondrial (EC 2.8.1.7) (Q5QP19_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y697

UniProtKB/Swiss-Prot:

NFS1_HUMAN :
  • Belongs to the class-V pyridoxal-phosphate-dependent aminotransferase family. NifS/IscS subfamily.
Family:
  • Belongs to the class-V pyridoxal-phosphate-dependent aminotransferase family. NifS/IscS subfamily.
genes like me logo Genes that share domains with NFS1: view

Function for NFS1 Gene

Molecular function for NFS1 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the removal of elemental sulfur from cysteine to produce alanine. It supplies the inorganic sulfur for iron-sulfur (Fe-S) clusters. May be involved in the biosynthesis of molybdenum cofactor.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=[sulfur carrier]-H + L-cysteine = [sulfur carrier]-SH + L-alanine; Xref=Rhea:RHEA:43892, Rhea:RHEA-COMP:14737, Rhea:RHEA-COMP:14739, ChEBI:CHEBI:29917, ChEBI:CHEBI:35235, ChEBI:CHEBI:57972, ChEBI:CHEBI:64428; EC=2.8.1.7;.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=434.75 uM for L-cysteine {ECO:0000269 PubMed:18650437}; Note=Kinetic parameter was determined for the protein lacking the 55 N-terminal amino acids and in a complex with LYRM4.;

Enzyme Numbers (IUBMB) for NFS1 Gene

Phenotypes From GWAS Catalog for NFS1 Gene

Gene Ontology (GO) - Molecular Function for NFS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16527810
GO:0016740 transferase activity IEA --
GO:0030170 pyridoxal phosphate binding IEA --
GO:0031071 cysteine desulfurase activity IEA,IDA 16527810
GO:0042803 protein homodimerization activity IDA 16527810
genes like me logo Genes that share ontologies with NFS1: view
genes like me logo Genes that share phenotypes with NFS1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for NFS1

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NFS1

Clone Products

  • Addgene plasmids for NFS1

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for NFS1 Gene

Localization for NFS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NFS1 Gene

[Isoform Mitochondrial]: Mitochondrion.
[Isoform Cytoplasmic]: Cytoplasm. Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NFS1 gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 5
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NFS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 16847322
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IDA,TAS 26702583
GO:0005759 mitochondrial matrix TAS,IDA --
genes like me logo Genes that share ontologies with NFS1: view

Pathways & Interactions for NFS1 Gene

genes like me logo Genes that share pathways with NFS1: view

Gene Ontology (GO) - Biological Process for NFS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006777 Mo-molybdopterin cofactor biosynthetic process IEA --
GO:0016226 iron-sulfur cluster assembly IBA 21873635
GO:0018283 iron incorporation into metallo-sulfur cluster IDA 16847322
GO:0032324 molybdopterin cofactor biosynthetic process TAS --
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with NFS1: view

No data available for SIGNOR curated interactions for NFS1 Gene

Drugs & Compounds for NFS1 Gene

(8) Drugs for NFS1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cysteine Approved Nutra Target 289
Pyridoxal Phosphate Approved, Investigational Nutra Target, cofactor 20
Iron Approved, Experimental Pharma 1496
L-Alanine Nutra Full agonist, Agonist, Target Glycine receptor agonist 187

(5) Additional Compounds for NFS1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with NFS1: view

Transcripts for NFS1 Gene

mRNA/cDNA for NFS1 Gene

3 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NFS1

Clone Products

  • Addgene plasmids for NFS1

Alternative Splicing Database (ASD) splice patterns (SP) for NFS1 Gene

No ASD Table

Relevant External Links for NFS1 Gene

GeneLoc Exon Structure for
NFS1

Expression for NFS1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NFS1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for NFS1 Gene

This gene is overexpressed in Adrenal (9.6) and Skin (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NFS1 Gene



Protein tissue co-expression partners for NFS1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NFS1

SOURCE GeneReport for Unigene cluster for NFS1 Gene:

Hs.194692

mRNA Expression by UniProt/SwissProt for NFS1 Gene:

Q9Y697-NFS1_HUMAN
Tissue specificity: Predominantly expressed in heart and skeletal muscle. Also found in brain, liver and pancreas.

Evidence on tissue expression from TISSUES for NFS1 Gene

  • Nervous system(4.6)
  • Pancreas(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NFS1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • nervous
  • respiratory
  • skeletal muscle
Regions:
Head and neck:
  • brain
Thorax:
  • lung
Abdomen:
  • liver
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with NFS1: view

No data available for mRNA differential expression in normal tissues for NFS1 Gene

Orthologs for NFS1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for NFS1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NFS1 31 30
  • 99.64 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NFS1 31 30
  • 92.85 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NFS1 31 30
  • 92.49 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nfs1 30
  • 89.12 (n)
mouse
(Mus musculus)
Mammalia Nfs1 17 31 30
  • 88.03 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 87 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 66 (a)
OneToMany
chicken
(Gallus gallus)
Aves NFS1 31 31
  • 82 (a)
ManyToMany
LOC100858210 30
  • 73.94 (n)
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 82 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia nfs1 30
  • 73.63 (n)
Str.16278 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.6508 30
zebrafish
(Danio rerio)
Actinopterygii nfs1 31 30
  • 73.71 (n)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6217 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009094 30
  • 67.75 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG12264 31 32 30
  • 66.17 (n)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea B0205.6 31 32 30
  • 63.84 (n)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AAL013W 30
  • 61.25 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NFS1 33 31 30
  • 60.42 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D04928g 30
  • 59.25 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons NFS1 30
  • 62.18 (n)
soybean
(Glycine max)
eudicotyledons Gma.2991 30
rice
(Oryza sativa)
Liliopsida Os09g0338400 30
  • 65.34 (n)
Os.9367 30
barley
(Hordeum vulgare)
Liliopsida Hv.4410 30
wheat
(Triticum aestivum)
Liliopsida Ta.10246 30
corn
(Zea mays)
Liliopsida Zm.4660 30
bread mold
(Neurospora crassa)
Ascomycetes NCU04636 30
  • 64.83 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes nfs1 30
  • 61.15 (n)
sea squirt
(Ciona savignyi)
Ascidiacea Cin.10386 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.10386 30
Species where no ortholog for NFS1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for NFS1 Gene

ENSEMBL:
Gene Tree for NFS1 (if available)
TreeFam:
Gene Tree for NFS1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NFS1: view image

Paralogs for NFS1 Gene

Paralogs for NFS1 Gene

(8) SIMAP similar genes for NFS1 Gene using alignment to 8 proteins:

  • NFS1_HUMAN
  • A2A2M1_HUMAN
  • B4DNL7_HUMAN
  • F2Z2E7_HUMAN
  • F8WB23_HUMAN
  • F8WER8_HUMAN
  • Q5QP19_HUMAN
  • Q8WV90_HUMAN

Pseudogenes.org Pseudogenes for NFS1 Gene

genes like me logo Genes that share paralogs with NFS1: view

Variants for NFS1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NFS1 Gene

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
669175 Likely Benign: not provided 35,698,461(-) G/A INTRON_VARIANT
671453 Benign: not provided 35,697,520(-) C/T INTRON_VARIANT
671457 Benign: not provided 35,681,625(-) A/G INTRON_VARIANT
671467 Benign: not provided 35,674,089(-) A/C INTRON_VARIANT
671483 Benign: not provided 35,673,309(-) A/G INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for NFS1 Gene

Structural Variations from Database of Genomic Variants (DGV) for NFS1 Gene

Variant ID Type Subtype PubMed ID
esv2671511 CNV deletion 23128226
esv3337733 CNV insertion 20981092
nsv1116861 CNV deletion 24896259
nsv1138952 CNV deletion 24896259
nsv473734 CNV novel sequence insertion 20440878
nsv526188 CNV gain 19592680

Variation tolerance for NFS1 Gene

Residual Variation Intolerance Score: 47.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.03; 21.18% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NFS1 Gene

Human Gene Mutation Database (HGMD)
NFS1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NFS1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NFS1 Gene

Disorders for NFS1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for NFS1 Gene - From: Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search NFS1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for NFS1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with NFS1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NFS1 Gene

Publications for NFS1 Gene

  1. Targeting of a human iron-sulfur cluster assembly enzyme, nifs, to different subcellular compartments is regulated through alternative AUG utilization. (PMID: 9885568) Land T … Rouault TA (Molecular cell 1998) 2 3 4 23 54
  2. Distinct iron-sulfur cluster assembly complexes exist in the cytosol and mitochondria of human cells. (PMID: 11060020) Tong WH … Rouault T (The EMBO journal 2000) 3 4 23 54
  3. Mitochondrial Hspa9/Mortalin regulates erythroid differentiation via iron-sulfur cluster assembly. (PMID: 26702583) Shan Y … Cortopassi G (Mitochondrion 2016) 3 4 54
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41 54
  5. Human ISD11 is essential for both iron-sulfur cluster assembly and maintenance of normal cellular iron homeostasis. (PMID: 19454487) Shi Y … Rouault TA (Human molecular genetics 2009) 4 23 54

Products for NFS1 Gene

Sources for NFS1 Gene