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

NFS1 Gene

protein-coding   GIFtS: 57
GCID: GC20M034220

NFS1 nitrogen fixation 1 homolog (S. cerevisiae)

(Previous names: nitrogen fixation 1 (S. cerevisiae, homolog) )
 Explore 9 diseases affiliated with
NFS1 via our new
 Human Malady Compendium 
Biological research products
for NFS1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
NFS1 Nitrogen Fixation 1 Homolog (S. Cerevisiae)1 2     EC 2.8.1.73 8
NIFS2 3 5     NifS1
IscS1 2     Cysteine Desulfurase, Mitochondrial2
Nitrogen Fixation 1 (S. Cerevisiae, Homolog)1 2     Nitrogen-Fixing Bacteria S-Like Protein2

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:
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)

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


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000020.10  NC_018931.1  NT_011362.10  
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:
34,287,281 bp from pter
Size:
67,020 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • 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 MOPED and PaxDb:    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   ENSP00000393669   ENSP00000397572   ENSP00000393482  
     ENSP00000403253   ENSP00000304740   ENSP00000440897   ENSP00000438594  
    Reactome Protein details: Q9Y697
    Human Recombinant Protein Products for NFS1: 
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    Uscn 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 IDA16847322
    GO:0005829cytosol TAS--

    NFS1 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    NFS1 for domains           About GeneDecksing

    5/7 InterPro domains/families (see all 7):
     IPR020578 Aminotrans_V_PyrdxlP_BS
     IPR015424 PyrdxlP-dep_Trfase
     IPR010240 Cys_deSase
     IPR000192 Aminotrans_V/Cys_dSase
     IPR016454 Cysteine_dSase_NifS

    Graphical View of Domain Structure for InterPro Entry Q9Y697

    ProtoNet protein and cluster: Q9Y697

    1 Blocks protein family: IPB000192 Aminotransferase

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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 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 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0005515protein binding IPI18650437
    GO:0030170pyridoxal phosphate binding IEA--
    GO:0031071cysteine desulfurase activity TAS--
    GO:0042803protein homodimerization activity IDA16527810
         
    NFS1 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for NFS1 

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    In Situ Assay
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/6 super-pathways (see all 6About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Molybdenum cofactor biosynthesis
    Molybdenum cofactor biosynthesis1.00
    Sulfur relay system0.33
    molybdenum cofactor biosynthesis0.67
    2Mitochondrial Iron-Sulfur Cluster Biogenesis
    Mitochondrial Iron-Sulfur Cluster Biogenesis1.00
    FXN:NFS1:ISD11:ISCU Synthesizes Iron-Sulfur Cluster0.67
    3Vitamin B5 (pantothenate) metabolism
    Metabolism of vitamins and cofactors0.21
    Metabolism of water-soluble vitamins and cofactors0.21
    4Metabolism
    Metabolism1.00
    5alanine biosynthesis III
    alanine biosynthesis III1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    2 BioSystems Pathways for NFS1 
        alanine biosynthesis III
    molybdenum cofactor biosynthesis

    5/6        Reactome Pathways for NFS1 (see all 6)
        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): 5/9 biological process terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000096sulfur amino acid metabolic process TAS9885568
    GO:0006461protein complex assembly TAS9885568
    GO:0006534cysteine metabolic process IEA--
    GO:0006766vitamin metabolic process TAS--
    GO:0006767water-soluble vitamin 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, 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 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 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, 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 ENST00000471137
    ENST00000489163 ENST00000413203 ENST00000456462 ENST00000419569 ENST00000421540
    ENST00000306750(uc002xdx.3) ENST00000541387 ENST00000540053

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    Additional cDNA 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):

    CR594451 BC018471 AA832096 BM704466 CD671950 AK091049 BQ073152 AI214202 
    F10023 BX437580 N91044 AI041708 CA454242 R55097 AK001470 BC065560 
    BP366656 BU736632 BF939784 CB216201 AI471710 CR610756 NM_181679 CF139792 

    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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GACATTTGAG
    NFS1 Expression
    About this image

    NFS1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    LiverLiver LobuleLiver
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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 last universal common ancestor (LUCA).

    Orthologs for NFS1 gene from 11/42 species (see all 42)    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 F1NNU3_CHICK6
    NFS1 nitrogen fixation 1
    79(a)
    1 ↔ 1
    20(1028253-1040388)
    lizard
    (Anolis carolinensis)
    Reptilia NFS16
    --
    87(a)
    1 ↔ 1
    4(134414874-134427826)
    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, UniProtKB, 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

    10/560 NCBI SNPs in NFS1 are shown (see all 560    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1819088331,2
    --34256240(+) ATAAGA/GAATAC 3 -- ds50010--------
    rs60889121,2
    H--34256390(+) CTCTAG/ATTACA 3 -- ds50014Minor allele frequency- A:0.00NS EA 416
    rs61210231,2
    C,F,A,H--34256640(+) GTTTAA/CTTATT 3 -- ut31 nc-transcript-variant20Minor allele frequency- C:0.10NS EA NA WA CSA 2346
    rs1852519411,2
    --34256682(+) TGAGGA/GCAGGG 3 -- ut31 nc-transcript-variant0--------
    rs1465153701,2
    --34256823(+) GGCGG-/GGTTCTTC 3 -- nc-transcript-variantut310--------
    rs1904923011,2
    --34256953(+) ATTAGA/TATAAC 3 -- ut31 nc-transcript-variant0--------
    rs1454373101,2
    --34256975(+) CAGACA/GTATTT 3 -- ut31 nc-transcript-variant0--------
    rs1819491351,2
    --34257075(+) GTCAAC/TATGAA 3 -- ut31 nc-transcript-variant0--------
    rs1861196471,2
    --34257173(+) AAGACA/GAAGAC 3 -- ut31 nc-transcript-variant0--------
    rs72677591,2
    C,F,A,H--34257284(+) TGACAG/TCAAAT 3 -- ut31 nc-transcript-variant12Minor allele frequency- T:0.06NA NS EA WA 880

    HapMap Linkage Disequilibrium report for NFS1 (34220262 - 34287281 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for NFS1: --

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing NFS1
    DNA2.0 Custom Variant and Variant Library Synthesis for NFS1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    NFS1 for disorders           About GeneDecksing

    OMIM gene information: 603485    OMIM disorders: --

    9 diseases for NFS1:    About MalaCards
    xanthinuria    sickle cell anemia    friedreich ataxia    anemia
    ataxia    pneumonia    tuberculosis    malaria
    mycobacterium tuberculosis

    2 diseases from the University of Copenhagen DISEASES database for NFS1:
    Friedreich ataxia     Sickle cell anemia
    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 58):
    (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. 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)
    4. Role of human mitochondrial Nfs1 in cytosolic iron-sulfur protein biogenesis and iron regulation. (PubMed id 16847322)1, 3 Biederbick A....Lill R. (2006)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. 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)
    7. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (2001)
    8. Characterization of 16 novel human genes showing high similarity to yeast sequences. (PubMed id 11124703)1, 2 Stanchi F.... Valle G. (2001)
    9. 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)
    10. Human ISD11 is essential for both iron-sulfur cluster assembly and maintenance of normal cellular iron homeostasis. (PubMed id 19454487)2, 9 Shi Y....Rouault T.A. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    Aliases
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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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