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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

NFS1 Gene

protein-coding   GIFtS: 60
GCID: GC20M034220

NFS1 Cysteine Desulfurase

(Previous names: nitrogen fixation 1 (S. cerevisiae, homolog), NFS1 nitrogen...)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
NFS1 Cysteine Desulfurase1 2     IscS2
NIFS2 3 5     Cysteine Desulfurase, Mitochondrial2
Nitrogen Fixation 1 (S. Cerevisiae, Homolog)1 2     NFS1 Nitrogen Fixation 1 Homolog2
EC 2.8.1.73 8     Nitrogen-Fixing Bacteria S-Like Protein2
NFS1 Nitrogen Fixation 1 Homolog (S. Cerevisiae)1     

External Ids:    HGNC: 159101   Entrez Gene: 90542   Ensembl: ENSG000002440057   OMIM: 6034855   UniProtKB: Q9Y6973   

Export aliases for NFS1 gene to outside databases

Previous GC identifers: GC20U990032 GC20M033975 GC20M034925 GC20M034972 GC20M033720 GC20M034256 GC20M031036


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 sickle cell anemia, and friedreich ataxia, and among its related super-pathways are molybdenum cofactor biosynthesis and Metabolism of water-soluble vitamins and cofactors. GO annotations related to this gene include protein homodimerization activity and cysteine desulfurase activity. An important paralog of this gene is SCLY.

UniProtKB/Swiss-Prot: NFS1_HUMAN, Q9Y697
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

Gene Wiki entry for NFS1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000020.10  NT_011362.10  NC_018931.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the NFS1 gene promoter:
         GR   Pbx1a   AML1a   GR-beta   NF-kappaB   C/EBPalpha   ZIC2/Zic2   Msx-1   GR-alpha   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNFS1 promoter sequence
   Search SABiosciences Chromatin IP Primers for NFS1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NFS1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 20q11.22   Ensembl cytogenetic band:  20q11.22   HGNC cytogenetic band: 20q11.22

NFS1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NFS1 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20M034220:  view genomic region     (about GC identifiers)

Start:
34,220,262 bp from pter      End:
34,287,287 bp from pter
Size:
67,026 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: NFS1_HUMAN, Q9Y697 (See protein sequence)
Recommended Name: Cysteine desulfurase, mitochondrial precursor  
Size: 457 amino acids; 50196 Da
Cofactor: Pyridoxal phosphate (By similarity)
Subunit: Binds ISCU/NIFUN. Forms a complex with LYRM4
Subcellular location: Isoform Mitochondrial: Mitochondrion
Subcellular location: Isoform Cytoplasmic: Cytoplasm. Nucleus
Secondary accessions: B3KMA5 B4DXK9 E1P5R8 F5GYK5 Q6P0L8 Q9NTZ5 Q9Y481
Alternative splicing, Alternative initiation: 3 isoforms:  Q9Y697-1   Q9Y697-2   Q9Y697-3   

Explore the universe of human proteins at neXtProt for NFS1: NX_Q9Y697

Explore proteomics data for NFS1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9Y697

  • 4/14 DME Specific Peptides for NFS1 (Q9Y697) (see all 14)
     KGVARFY  EGESLLM  AHSSIRF  GGGQERG 

    NFS1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    NFS1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001185918.1  NP_066923.3  

    ENSEMBL proteins: 
     ENSP00000411232   ENSP00000395201   ENSP00000443983   ENSP00000363205   ENSP00000363198  
     ENSP00000380570   ENSP00000392871   ENSP00000440897   ENSP00000393669   ENSP00000397572  
     ENSP00000393482   ENSP00000304740   ENSP00000438594  
    Reactome Protein details: Q9Y697
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    Cloud-Clone Corp. Proteins for NFS1 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA16847322
    GO:0005739mitochondrion TAS9885568
    GO:0005759mitochondrial matrix TAS--
    GO:0005829cytosol TAS--

    NFS1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/7 InterPro protein domains (see all 7):
     IPR020578 Aminotrans_V_PyrdxlP_BS
     IPR016454 Cysteine_dSase_NifS
     IPR015422 PyrdxlP-dep_Trfase_major_sub2
     IPR015424 PyrdxlP-dep_Trfase
     IPR010240 Cys_deSase

    Graphical View of Domain Structure for InterPro Entry Q9Y697

    ProtoNet protein and cluster: Q9Y697

    1 Blocks protein domain: IPB000192 Aminotransferase

    UniProtKB/Swiss-Prot: NFS1_HUMAN, Q9Y697
    Similarity: Belongs to the class-V pyridoxal-phosphate-dependent aminotransferase family. NifS/IscS subfamily


    NFS1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NFS1_HUMAN, Q9Y697
    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
    Catalytic activity: L-cysteine + acceptor = L-alanine + S-sulfanyl-acceptor
    Biophysicochemical properties: Kinetic parameters: KM=434.75 uM for L-cysteine; Note=Kinetic parameter was
    determined for the protein lacking the 55 N-terminus amino-acids and in a complex with LYRM4;

         Enzyme Number (IUBMB): EC 2.8.1.71 2

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0005515protein binding IPI16527810
    GO:0016829lyase activity ----
    GO:0030170pyridoxal phosphate binding IEA--
    GO:0031071cysteine desulfurase activity TAS--
         
    NFS1 for ontologies           About GeneDecksing


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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for NFS1 About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Molybdenum cofactor biosynthesis
    Molybdenum cofactor biosynthesis0.67
    Sulfur relay system0.33
    molybdenum cofactor biosynthesis0.67
    2Metabolism of vitamins and cofactors
    Metabolism of water-soluble vitamins and cofactors1.00
    Metabolism of vitamins and cofactors1.00
    3Metabolism
    Metabolism0.40
    4Vitamin B1 (thiamin) metabolism
    Thiamine metabolism0.33
    5Mitochondrial Iron-Sulfur Cluster Biogenesis
    Mitochondrial Iron-Sulfur Cluster Biogenesis0.33

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for NFS1
        alanine biosynthesis III
    molybdenum cofactor biosynthesis

    5        Reactome Pathways for NFS1
        Molybdenum cofactor biosynthesis
    Mitochondrial Iron-Sulfur Cluster Biogenesis
    Metabolism
    Metabolism of vitamins and cofactors
    Metabolism of water-soluble vitamins and cofactors


    2         Kegg Pathways  (Kegg details for NFS1):
        Thiamine metabolism
    Sulfur relay system


    NFS1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for NFS1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/57 Interacting proteins for NFS1 (Q9Y6973 ENSP000003632054) via UniProtKB, MINT, STRING, and/or I2D (see all 57)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ABL1P005193, ENSP000003614234I2D: score=1 STRING: ENSP00000361423
    FYNP062413, ENSP000003576564I2D: score=1 STRING: ENSP00000357656
    GAPDHP044063, ENSP000002292394I2D: score=1 STRING: ENSP00000229239
    MOCS3O953963, ENSP000002440514I2D: score=1 STRING: ENSP00000244051
    RB1CC1Q8TDY23, ENSP000000250084I2D: score=1 STRING: ENSP00000025008
    About this table

    Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000096sulfur amino acid metabolic process TAS9885568
    GO:0006461protein complex assembly TAS9885568
    GO:0006520cellular amino acid metabolic process ----
    GO:0006534cysteine metabolic process IEA--
    GO:0006766vitamin metabolic process TAS--

    NFS1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    NFS1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for NFS1

    4 HMDB Compounds for NFS1    About this table
    CompoundSynonyms CAS #PubMed Ids
    IronArmco iron (see all 19)7439-89-6--
    L-Alanine(2S)-2-Aminopropanoate (see all 35)56-41-7--
    L-Cysteine(+)-2-Amino-3-mercaptopropionic acid (see all 37)52-90-4--
    Pyridoxal 5'-phosphateApolon B6 (see all 27)54-47-7--

    3 DrugBank Compounds for NFS1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    L-Cysteine(R)-2-Amino-3-mercaptopropanoic acid (see all 13)52-90-4target--16877383 16603772 15828873 15985427 17469805
    Pyridoxal PhosphateCodecarboxylase (see all 9)54-47-7targetcofactor12119030 12196163 12860127 17469805 16310786
    L-Alanine(2S)-2-Aminopropanoic acid (see all 15)56-41-7target--17469805 17660944

    10/12 Novoseek inferred chemical compound relationships for NFS1 gene (see all 12)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    iron-sulfur 85.8 6 16527810 (2), 9885568 (1), 9812986 (1), 20064440 (1)
    moco 78.5 2 17368066 (1), 16784786 (1)
    cysteine 74.2 43 16527810 (4), 12382038 (4), 18191630 (2), 9812986 (2) (see all 22)
    sulfur 73.4 17 9812986 (2), 9885568 (1), 18191630 (1), 11060020 (1) (see all 11)
    molybdopterin 70.4 2 12382038 (1), 11029694 (1)
    pyridoxal 5-phosphate 68.2 6 14756555 (1), 11123951 (1), 12382038 (1), 9264543 (1)
    selenocysteine 56.6 2 9812986 (2)
    iron 44.6 2 16527810 (1), 11555280 (1)
    alanine 28.8 4 9812986 (2), 10891064 (1), 12382038 (1)
    selenium 24.7 7 9812986 (5), 10609891 (1)

    Search CenterWatch for drugs/clinical trials and news about NFS1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for NFS1 gene (3 alternative transcripts): 
    NM_001198989.1  NM_021100.4  NM_181679.1  

    Unigene Cluster for NFS1:

    NFS1 nitrogen fixation 1 homolog (S. cerevisiae)
    Hs.194692  [show with all ESTs]
    Unigene Representative Sequence: AK056242
    18 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000441563 ENST00000454607 ENST00000541176(uc002xdn.1 uc002xdo.1 uc002xdp.1)
    ENST00000374092(uc010zvl.2 uc010zvk.2 uc002xdw.2) ENST00000374085(uc002xdt.2)
    ENST00000498084 ENST00000480655 ENST00000397425 ENST00000440385 ENST00000541387
    ENST00000471137 ENST00000489163 ENST00000413203 ENST00000456462 ENST00000419569
    ENST00000421540 ENST00000306750(uc002xdx.3) ENST00000540053
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA sequence: 

    AF097025.2 AJ010952.1 AK001265.1 AK001470.1 AK056242.1 AK223239.1 AK295215.1 AK297969.1 
    AK301969.1 AK302023.1 AK312293.1 BC018471.1 BC065560.1 NR_037570.2 

    20 DOTS entries:

    DT.91755144  DT.120831356  DT.100809563  DT.95073681  DT.120831403  DT.453288  DT.100818245  DT.100818247 
    DT.120831317  DT.100818251  DT.100818248  DT.100818249  DT.95073682  DT.91710310  DT.100808665  DT.120831218 
    DT.120831365  DT.120831379  DT.120831455  DT.95356653 

    24/189 AceView cDNA sequences (see all 189):

    BQ925327 N91044 AU124736 NM_181679 AA902946 BM979406 CA454242 BF087847 
    CD671950 BM479682 AA832096 AI041708 BX356142 BP366656 BM800087 BF939784 
    AK001265 CF139792 CR610756 AJ010952 CB989114 AA885085 BU736632 BC065560 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    NFS1 expression in normal human tissues (normalized intensities)      NFS1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GACATTTGAG
    NFS1 Expression
    About this image


    NFS1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/17 selected tissues (see all 17) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
             brain/midbrain   
     
     Nose (Sensory Organs)    fully expand to see all 2 entries
             sensory organ/nose/nasal cavity   
     
     Limb (Muscoskeletal System)    fully expand to see all 2 entries
             limb/hindlimb   
     
     Adrenal Gland (Endocrine System)
             adrenal cortex   
     
     Gut Tube (Gastrointestinal Tract)
             Foregut

    See NFS1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NFS1

    SOURCE GeneReport for Unigene cluster: Hs.194692

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

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for NFS1 gene from 10/28 species (see all 28)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nfs11 , 5 nitrogen fixation gene 1 (S. cerevisiae)1, 5 86.99(n)1
    92.46(a)1
      2 (77.34 cM)5
    180411  NM_010911.21  NP_035041.21 
     1560789295 
    chicken
    (Gallus gallus)
    Aves NFS16
    NFS16
    --
    82(a)
    82(a)
    many → 1
    many → 1
    20(1137517-1148952)
    20(1033001-1042821)
    lizard
    (Anolis carolinensis)
    Reptilia NFS16
    Uncharacterized protein
    82(a)
    1 ↔ 1
    4(134413471-134430895)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.65082 Xenopus laevis transcribed sequence with moderate similarity more 75.8(n)    CA789097.1 
    zebrafish
    (Danio rerio)
    Actinopterygii nfs11 NFS1 nitrogen fixation 1 (S. cerevisiae) 73.71(n)
    82.34(a)
      562714  NM_001044993.1  NP_001038458.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG122641 , 3 iron-sulfur cluster assembly cysteine
    desulfhydrase3
    CG122641
    67(a)3
    66.17(n)1
    78.3(a)1
      33B53
    346131  NM_135689.21  NP_609533.11 
    worm
    (Caenorhabditis elegans)
    Secernentea B0205.61 , 3 aminotransferase3
    Protein B0205.61
    65(a)3
    63.84(n)1
    70.07(a)1
      I(10744802-10747827)3
    1729791  NM_060411.41  NP_492812.21 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes NFS1(YCL017C)4
    NFS11
    Cysteine desulfurase involved in iron-sulfur cluster more4
    Nfs1p1
    58.09(n)1
    63.88(a)1
      3(94270-92777)4
    8503431, 4  NP_009912.21, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons NFS11 cysteine desulfurase 1 62.18(n)
    67.08(a)
      836701  NM_125969.2  NP_201373.1 
    rice
    (Oryza sativa)
    Liliopsida Os.93672 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 73.3(n)    AK098947.1 


    ENSEMBL Gene Tree for NFS1 (if available)
    TreeFam Gene Tree for NFS1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for NFS1 gene
    SCLY2  
    9 SIMAP similar genes for NFS1 using alignment to 12 protein entries:     NFS1_HUMAN (see all proteins):
    AURA2    SPATS2L    LEPROTL1    SH3PXD2A    TMEM14B    HMGA2
    EPS15    FAM175A    SCLY

    NFS1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/707 SNPs in NFS1 are shown (see all 707)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1819088331,2
    --34259636(+) ATAAGA/GAATAC 3 -- ds50010--------
    rs60889121,2
    H--34259786(+) CTCTAG/ATTACA 3 -- ds50014Minor allele frequency- A:0.00NS EA 416
    rs352460171,2
    C--34259998(+) CCTCA-/GCCTCC 3 -- int10--------
    rs61210231,2
    C,F,A,H--34260036(+) GTTTAA/CTTATT 3 -- ut31 nc-transcript-variant20Minor allele frequency- C:0.10NS EA NA WA CSA 2346
    rs1852519411,2
    --34260078(+) TGAGGA/GCAGGG 3 -- ut31 nc-transcript-variant0--------
    rs1465153701,2
    C--34260219(+) GGCGG-/GGTTCTTC 3 -- cds1 nc-transcript-variant0--------
    rs1904923011,2
    --34260349(+) ATTAGA/TATAAC 3 -- ut31 nc-transcript-variant0--------
    rs1454373101,2
    C--34260371(+) CAGACA/GTATTT 3 -- ut31 nc-transcript-variant0--------
    rs1819491351,2
    --34260471(+) GTCAAC/TATGAA 3 -- ut31 nc-transcript-variant0--------
    rs1861196471,2
    --34260569(+) AAGACA/GAAGAC 3 -- ut31 nc-transcript-variant0--------

    HapMap Linkage Disequilibrium report for NFS1 (34220262 - 34287287 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for NFS1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2671511CNV Deletion23128226
    nsv526188CNV Gain19592680

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 603485    OMIM disorders: --

    7 diseases for NFS1:    About MalaCards
    sickle cell anemia    friedreich ataxia    malaria    ataxia
    pneumonia    anemia    tuberculosis

    1 disease from the University of Copenhagen DISEASES database for NFS1:
    Friedreich ataxia

    NFS1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): NFS1
    Human Genome Epidemiology (HuGE) Navigator: NFS1 (1 document)

    Export disorders for NFS1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for NFS1 gene, integrated from 9 sources (see all 59):
    (articles sorted by number of sources associating them with NFS1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Targeting of a human iron-sulfur cluster assembly enzyme, nifs, to different subcellular compartments is regulated through alternative AUG utilization. (PubMed id 9885568)1, 2, 3, 9 Land T. and Rouault T.A. (1998)
    2. Distinct iron-sulfur cluster assembly complexes exist in the cytosol and mitochondria of human cells. (PubMed id 11060020)1, 2, 9 Tong W.-H. and Rouault T. (2000)
    3. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    4. A novel role for human Nfs1 in the cytoplasm: Nfs1 acts as a sulfur donor for MOCS3, a protein involved in molybdenum cofactor biosynthesis. (PubMed id 18650437)1, 2 Marelja Z.... Leimkuehler S. (2008)
    5. Role of human mitochondrial Nfs1 in cytosolic iron-sulfur protein biogenesis and iron regulation. (PubMed id 16847322)1, 3 Biederbick A....Lill R. (2006)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    8. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (2001)
    9. Characterization of 16 novel human genes showing high similarity to yeast sequences. (PubMed id 11124703)1, 2 Stanchi F.... Valle G. (2001)
    10. Roles of the mammalian cytosolic cysteine desulfurase, ISCS, and scaffold protein, ISCU, in iron-sulfur cluster assembly. (PubMed id 16527810)1, 9 Li K....Rouault T.A. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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      Query String
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 9054 HGNC: 15910 AceView: NFS1 Ensembl:ENSG00000244005 euGenes: HUgn9054
    ECgene: NFS1 Kegg: 9054 H-InvDB: NFS1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for NFS1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for NFS1 gene:
    Search GeneIP for patents involving NFS1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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