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Aliases for NFS1 Gene

Aliases for NFS1 Gene

  • NFS1 Cysteine Desulfurase 2 3 5
  • Nitrogen Fixation 1 (S. Cerevisiae, Homolog) 2 3
  • EC 2.8.1.7 4 63
  • 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 severe neonatal lactic acidosis due to nfs1-isd11 complex deficiency and xanthinuria. Among its related pathways are Metabolism and Sulfur relay system. GO annotations related to this gene include protein homodimerization activity and lyase activity. An important paralog of this gene is ENSG00000272897.

UniProtKB/Swiss-Prot 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NFS1 Gene

Genomics for NFS1 Gene

Regulatory Elements for NFS1 Gene

Enhancers for NFS1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around NFS1 on UCSC Golden Path with GeneCards custom track

Promoters for NFS1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around NFS1 on UCSC Golden Path with GeneCards custom track

Genomic Location for NFS1 Gene

Chromosome:
20
Start:
35,668,055 bp from pter
End:
35,699,365 bp from pter
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. Forms a complex with LYRM4.

    Alternative splice isoforms for NFS1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NFS1 Gene

Proteomics data for NFS1 Gene at MOPED

Post-translational modifications for NFS1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

Domains & Families for NFS1 Gene

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

No data available for Gene Families for NFS1 Gene

Function for NFS1 Gene

Molecular function for NFS1 Gene

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.;
UniProtKB/Swiss-Prot CatalyticActivity:
L-cysteine + acceptor = L-alanine + S-sulfanyl-acceptor.
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.

Enzyme Numbers (IUBMB) for NFS1 Gene

Gene Ontology (GO) - Molecular Function for NFS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031071 cysteine desulfurase activity TAS --
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

Human Phenotype Ontology for NFS1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for NFS1

miRNA for NFS1 Gene

miRTarBase miRNAs that target NFS1

No data available for 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
Jensen Localization Image for NFS1 Gene COMPARTMENTS Subcellular localization image for NFS1 gene
Compartment Confidence
cytosol 5
mitochondrion 5
nucleus 5

Gene Ontology (GO) - Cellular Components for NFS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005730 nucleolus 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:0006767 water-soluble vitamin metabolic process TAS --
GO:0044571 [2Fe-2S] cluster assembly IEA --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Alanine Approved Nutra Full agonist, Agonist, Target Glycine receptor agonist 0
L-Cysteine Approved Nutra Target 0
Pyridoxal Phosphate Nutra Target, cofactor 14

(6) Additional Compounds for NFS1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Fe2+
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
15438-31-0
genes like me logo Genes that share compounds with NFS1: view

Transcripts for NFS1 Gene

Unigene Clusters for NFS1 Gene

NFS1 nitrogen fixation 1 homolog (S. cerevisiae):
Representative Sequences:

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

No ASD Table

Relevant External Links for NFS1 Gene

GeneLoc Exon Structure for
NFS1
ECgene alternative splicing isoforms for
NFS1

Expression for NFS1 Gene

mRNA expression in normal human tissues 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, PaxDb, MOPED, and MaxQB for NFS1 Gene



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.
genes like me logo Genes that share expression patterns with NFS1: view

Protein tissue co-expression partners for NFS1 Gene

- Elite partner

Primer Products

In Situ Assay Products

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
cow
(Bos Taurus)
Mammalia NFS1 35
  • 92.85 (n)
  • 93 (a)
NFS1 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NFS1 35
  • 92.49 (n)
  • 94.09 (a)
NFS1 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nfs1 35
  • 88.03 (n)
  • 94.84 (a)
Nfs1 16
Nfs1 36
  • 91 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia NFS1 35
  • 99.64 (n)
  • 99.34 (a)
NFS1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nfs1 35
  • 89.12 (n)
  • 95.31 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 87 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 66 (a)
OneToMany
chicken
(Gallus gallus)
Aves LOC100858210 35
  • 73.94 (n)
  • 85.21 (a)
NFS1 36
  • 82 (a)
ManyToMany
NFS1 36
  • 82 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 82 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia nfs1 35
  • 73.63 (n)
  • 85.32 (a)
Str.16278 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.6508 35
zebrafish
(Danio rerio)
Actinopterygii nfs1 35
  • 73.71 (n)
  • 82.34 (a)
nfs1 36
  • 75 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6217 35
fruit fly
(Drosophila melanogaster)
Insecta CG12264 37
  • 67 (a)
CG12264 35
  • 66.17 (n)
  • 78.3 (a)
CG12264 36
  • 69 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009094 35
  • 67.75 (n)
  • 80.05 (a)
worm
(Caenorhabditis elegans)
Secernentea B0205.6 37
  • 65 (a)
B0205.6 35
  • 63.84 (n)
  • 70.07 (a)
B0205.6 36
  • 68 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AAL013W 35
  • 61.25 (n)
  • 66.25 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D04928g 35
  • 59.25 (n)
  • 64.75 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NFS1 35
  • 60.42 (n)
  • 67.5 (a)
NFS1 36
  • 56 (a)
OneToMany
NFS1 38
thale cress
(Arabidopsis thaliana)
eudicotyledons NFS1 35
  • 62.18 (n)
  • 67.08 (a)
soybean
(Glycine max)
eudicotyledons Gma.2991 35
barley
(Hordeum vulgare)
Liliopsida Hv.4410 35
rice
(Oryza sativa)
Liliopsida Os.9367 35
Os09g0338400 35
  • 65.34 (n)
  • 72.07 (a)
corn
(Zea mays)
Liliopsida Zm.4660 35
wheat
(Triticum aestivum)
Liliopsida Ta.10246 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.10386 35
bread mold
(Neurospora crassa)
Ascomycetes NCU04636 35
  • 64.83 (n)
  • 70.75 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes nfs1 35
  • 61.15 (n)
  • 67.88 (a)
Species with no ortholog for NFS1:
  • 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)

Paralogs for NFS1 Gene

Paralogs for NFS1 Gene

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

Variants for NFS1 Gene

Sequence variations from dbSNP and Humsavar for NFS1 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs2180280 -- 35,669,429(+) GGGAG(C/T)GCTCC nc-transcript-variant, utr-variant-3-prime
rs2378391 -- 35,680,534(+) AAAGA(A/T)TGGCC intron-variant
rs3841689 -- 35,674,095(+) TGTAA(-/C)CCCAC intron-variant
rs2425069 -- 35,673,458(+) tgCTC(C/T)AGAAA intron-variant
rs2425070 -- 35,681,469(+) AAGGC(A/G)GACGG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv526188 CNV Gain 19592680
esv2671511 CNV Deletion 23128226

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)

Relevant External Links for NFS1 Gene

HapMap Linkage Disequilibrium report
NFS1
Human Gene Mutation Database (HGMD)
NFS1

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

Disorders for NFS1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for NFS1 Gene - From: Orphanet and GeneCards

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

Relevant External Links for NFS1

Genetic Association Database (GAD)
NFS1
Human Genome Epidemiology (HuGE) Navigator
NFS1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NFS1
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 T.A. (Mol. Cell 1998) 2 3 4 23 67
  2. Expression, purification and characterization of a cysteine desulfurase, IscS, from Acidithiobacillus ferrooxidans. (PMID: 17660944) Zeng J. … Qiu G. (Biotechnol. Lett. 2007) 25 26
  3. A novel DNA modification by sulfur: DndA is a NifS-like cysteine desulfurase capable of assembling DndC as an iron-sulfur cluster protein in Streptomyces lividans. (PMID: 17469805) You D. … Deng Z. (Biochemistry 2007) 25 26
  4. Role of human mitochondrial Nfs1 in cytosolic iron-sulfur protein biogenesis and iron regulation. (PMID: 16847322) Biederbick A. … Lill R. (Mol. Cell. Biol. 2006) 2 3
  5. Roles of the mammalian cytosolic cysteine desulfurase, ISCS, and scaffold protein, ISCU, in iron-sulfur cluster assembly. (PMID: 16527810) Li K. … Rouault T.A. (J. Biol. Chem. 2006) 3 23

Products for NFS1 Gene

Sources for NFS1 Gene

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