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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 61
  • NIFS 3 4
  • NFS1 Nitrogen Fixation 1 Homolog (S. Cerevisiae) 2
  • Nitrogen-Fixing Bacteria S-Like Protein 3
  • Cysteine Desulfurase, Mitochondrial 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. Among its related pathways are Metabolism and Mitochondrial iron-sulfur cluster biogenesis. GO annotations related to this gene include protein homodimerization activity and lyase activity. An important paralog of this gene is SCLY.

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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH20F035874 1.1 FANTOM5 Ensembl ENCODE 12.3 -176.2 -176153 2.6 PKNOX1 ATF1 SIN3A FEZF1 BRCA1 ZNF2 GTF3C2 KLF7 FOS SP3 CPNE1 RBM12 AAR2 RPL36P4 TRPC4AP NFS1 EIF6 RBM39 TGIF2 PHF20
GH20F035659 0.2 ENCODE 11.5 +36.5 36533 5.9 PKNOX1 CREB3L1 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 CPNE1 NCOA6 RBM12 EIF6 NFS1 ROMO1 TRPC4AP PHF20 RPL36P4 CEP250
GH20F035658 0.9 Ensembl ENCODE 11.2 +40.4 40433 1.2 SMARCE1 NR2F1 DPF2 CEBPG ATF2 ZNF121 FOSL1 RAD51 IKZF1 TRIM24 NFS1 ROMO1 CEP250 GDF5 MIR1289-1 PHF20 RBM39 CPNE1 RBM12 RNU6-759P
GH20F035854 0.2 ENCODE 11 -155.5 -155509 0.2 TBP HLF CEBPA CEBPG EP300 CPNE1 PHF20 RPF2P1 RBM39 RNU4-40P RNU6-937P NFS1 ROMO1 ENSG00000199676 GC20M035854
GH20F035855 0.7 ENCODE 11 -155.9 -155869 0.2 TBP CEBPB EP300 CHD2 CPNE1 RNU4-40P PHF20 NFS1 ROMO1 RNU6-937P ENSG00000199676 GC20M035854 HIGD1AP16
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

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
ENSR00000400329 -135 2201 HDGF PKNOX1 CREB3L1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1

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.

    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

Antibody Products

  • Abcam antibodies for NFS1

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:0003824 catalytic activity IEA --
GO:0005515 protein binding IPI 16527810
GO:0016740 transferase activity IEA --
GO:0030170 pyridoxal phosphate binding IEA --
GO:0031071 cysteine desulfurase activity TAS --
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

Inhibitory RNA Products

Flow Cytometry Products

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:0005634 nucleus IDA 16847322
GO:0005654 nucleoplasm IDA --
GO:0005730 nucleolus IDA --
GO:0005737 cytoplasm IDA --
GO:0005739 mitochondrion TAS 9885568
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:0000096 sulfur amino acid metabolic process TAS 9885568
GO:0006461 protein complex assembly TAS 9885568
GO:0006777 Mo-molybdopterin cofactor biosynthetic process IEA --
GO:0018283 iron incorporation into metallo-sulfur cluster IDA 16847322
GO:0032324 molybdopterin cofactor biosynthetic 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

(11) 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

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

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:

Inhibitory RNA Products

Flow Cytometry Products

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 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, PaxDb, MaxQB, and MOPED for NFS1 Gene



Protein tissue co-expression partners for NFS1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of NFS1 Gene:

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

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia NFS1 34 35
  • 99.64 (n)
cow
(Bos Taurus)
Mammalia NFS1 34 35
  • 92.85 (n)
dog
(Canis familiaris)
Mammalia NFS1 34 35
  • 92.49 (n)
rat
(Rattus norvegicus)
Mammalia Nfs1 34
  • 89.12 (n)
mouse
(Mus musculus)
Mammalia Nfs1 34 16 35
  • 88.03 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 87 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 66 (a)
OneToMany
chicken
(Gallus gallus)
Aves NFS1 35 35
  • 82 (a)
ManyToMany
LOC100858210 34
  • 73.94 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 82 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia nfs1 34
  • 73.63 (n)
Str.16278 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.6508 34
zebrafish
(Danio rerio)
Actinopterygii nfs1 34 35
  • 73.71 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6217 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009094 34
  • 67.75 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG12264 36 34 35
  • 66.17 (n)
worm
(Caenorhabditis elegans)
Secernentea B0205.6 36 34 35
  • 63.84 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AAL013W 34
  • 61.25 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NFS1 34 35 37
  • 60.42 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D04928g 34
  • 59.25 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons NFS1 34
  • 62.18 (n)
soybean
(Glycine max)
eudicotyledons Gma.2991 34
rice
(Oryza sativa)
Liliopsida Os09g0338400 34
  • 65.34 (n)
Os.9367 34
barley
(Hordeum vulgare)
Liliopsida Hv.4410 34
corn
(Zea mays)
Liliopsida Zm.4660 34
wheat
(Triticum aestivum)
Liliopsida Ta.10246 34
bread mold
(Neurospora crassa)
Ascomycetes NCU04636 34
  • 64.83 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes nfs1 34
  • 61.15 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.10386 34
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)

Paralogs for NFS1 Gene

Paralogs for NFS1 Gene

Pseudogenes.org Pseudogenes 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
rs1044521 -- 35,699,714(+) GTTGC(C/G)CCGTG upstream-variant-2KB, reference, missense
rs111260004 -- 35,695,325(+) GCCAA(C/G)GTCAA intron-variant
rs111373089 -- 35,683,059(+) GGCAA(A/C)AGAAC intron-variant
rs111451856 -- 35,693,971(+) AAAAA(A/T)AAATA intron-variant
rs111485066 -- 35,673,478(+) GGTTA(C/T)GAGAA intron-variant

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)

Relevant External Links for NFS1 Gene

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

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

Disorders for NFS1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for NFS1 Gene - From: Orphanet

Disorder Aliases PubMed IDs
combined oxidative phosphorylation deficiency 19
  • coxpd19
- 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 22 64
  2. Distinct iron-sulfur cluster assembly complexes exist in the cytosol and mitochondria of human cells. (PMID: 11060020) Tong W.-H. … Rouault T. (EMBO J. 2000) 3 4 22 64
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64
  4. Human ISD11 is essential for both iron-sulfur cluster assembly and maintenance of normal cellular iron homeostasis. (PMID: 19454487) Shi Y. … Rouault T.A. (Hum. Mol. Genet. 2009) 4 22 64
  5. A novel role for human Nfs1 in the cytoplasm: Nfs1 acts as a sulfur donor for MOCS3, a protein involved in molybdenum cofactor biosynthesis. (PMID: 18650437) Marelja Z. … Leimkuehler S. (J. Biol. Chem. 2008) 3 4 64

Products for NFS1 Gene

Sources for NFS1 Gene

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