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    NFS1 NFS1, cysteine desulfurase [ Homo sapiens (human) ]

    Gene ID: 9054, updated on 16-Apr-2018
    Official Symbol
    NFS1provided by HGNC
    Official Full Name
    NFS1, cysteine desulfuraseprovided by HGNC
    Primary source
    HGNC:HGNC:15910
    See related
    Ensembl:ENSG00000244005 MIM:603485; Vega:OTTHUMG00000032361
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    IscS; NIFS; HUSSY-08
    Summary
    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]
    Expression
    Ubiquitous expression in kidney (RPKM 16.1), testis (RPKM 12.1) and 25 other tissues See more
    Orthologs
    Location:
    20q11.22
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 20 NC_000020.11 (35668688..35699365, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (34256610..34287287, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene copine 1 Neighboring gene RNA, U6 small nuclear 759, pseudogene Neighboring gene RNA binding motif protein 12 Neighboring gene reactive oxygen species modulator 1 Neighboring gene RNA binding motif protein 39 Neighboring gene ribosome production factor 2 homolog pseudogene 1

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • L-alanine biosynthesis III, conserved biosystem (from BIOCYC)
      L-alanine biosynthesis III, conserved biosystemAlanine is an essential component of protein (as |FRAME: L-ALPHA-ALANINE|) and peptidoglycan (as a roughly 3:1 mix of |FRAME: D-ALANINE| and |FRAME: L-ALPHA-ALANINE|). Only about a tenth of total ala...
    • Metabolic pathways, organism-specific biosystem (from KEGG)
      Metabolic pathways, organism-specific biosystem
      Metabolic pathways
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Metabolism of vitamins and cofactors, organism-specific biosystem (from REACTOME)
      Metabolism of vitamins and cofactors, organism-specific biosystemVitamins are a diverse group of organic compounds, classified according to their solubility, either fat-soluble or water-soluble, that are either not synthesized or synthesized only in limited amount...
    • Metabolism of water-soluble vitamins and cofactors, organism-specific biosystem (from REACTOME)
      Metabolism of water-soluble vitamins and cofactors, organism-specific biosystemVitamins are a diverse group of organic compounds, required in small amounts in the diet. They have distinct biochemical roles, often as coenzymes, and are either not synthesized or synthesized only ...
    • Mitochondrial iron-sulfur cluster biogenesis, organism-specific biosystem (from REACTOME)
      Mitochondrial iron-sulfur cluster biogenesis, organism-specific biosystemIron-sulfur (Fe-S) proteins are localized in the cytosol, nucleus, and mitochondria of mammalian cells (reviewed in Stemmler et al. 2010, Rouault 2012, Bandyopadhyay et al. 2008, Lill 2009, Lill et a...
    • Molybdenum cofactor biosynthesis, organism-specific biosystem (from REACTOME)
      Molybdenum cofactor biosynthesis, organism-specific biosystemMolybdenum cofactor (MoCo) is needed by three enzymes in humans: sulfite oxidase, xanthine oxidase and aldehyde oxidase. The pathway of its synthesis is so conserved that plants and bacteria can read...
    • Sulfur relay system, organism-specific biosystem (from KEGG)
      Sulfur relay system, organism-specific biosystemUbiquitin and ubiquitin-like proteins (Ubls) are signalling messengers that control many cellular functions, such as cell proliferation, apoptosis, and DNA repair. It is suggested that Ub-protein mod...
    • Sulfur relay system, conserved biosystem (from KEGG)
      Sulfur relay system, conserved biosystemUbiquitin and ubiquitin-like proteins (Ubls) are signalling messengers that control many cellular functions, such as cell proliferation, apoptosis, and DNA repair. It is suggested that Ub-protein mod...
    • Thiamine metabolism, organism-specific biosystem (from KEGG)
      Thiamine metabolism, organism-specific biosystem
      Thiamine metabolism
    • Thiamine metabolism, conserved biosystem (from KEGG)
      Thiamine metabolism, conserved biosystem
      Thiamine metabolism
    • [2Fe-2S] iron-sulfur cluster biosynthesis, organism-specific biosystem (from BIOCYC)
      [2Fe-2S] iron-sulfur cluster biosynthesis, organism-specific biosystemGeneral Background : FeS-Centers "Iron-sulfur (Fe-S) clusters" are cofators of : FeS-Proteins "iron-sulfur proteins" and consist of a cluster of two to four iron atoms linked to sulfides, some of wh...
    • [2Fe-2S] iron-sulfur cluster biosynthesis, conserved biosystem (from BIOCYC)
      [2Fe-2S] iron-sulfur cluster biosynthesis, conserved biosystemGeneral Background |FRAME: FeS-Centers "Iron-sulfur (Fe-S) clusters"| are cofators of |FRAME: FeS-Proteins "iron-sulfur proteins"| and consist of a cluster of two to four iron atoms linked to sulfid...
    • molybdenum cofactor biosynthesis, conserved biosystem (from BIOCYC)
      molybdenum cofactor biosynthesis, conserved biosystemGeneral Background The transition element molybdenum (Mo) has been long known as an essential micronutrient across the kingdoms of plants, animals, fungi and bacteria. However, molybdate itself is c...
    • molybdenum cofactor biosynthesis, organism-specific biosystem (from BIOCYC)
      molybdenum cofactor biosynthesis, organism-specific biosystem
      molybdenum cofactor biosynthesis
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Potential readthrough

    Included gene: CPNE1

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    cysteine desulfurase activity EXP
    Inferred from Experiment
    more info
    PubMed 
    cysteine desulfurase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cysteine desulfurase activity TAS
    Traceable Author Statement
    more info
     
    iron-sulfur cluster binding IEA
    Inferred from Electronic Annotation
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    pyridoxal phosphate binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    Mo-molybdopterin cofactor biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    [2Fe-2S] cluster assembly IEA
    Inferred from Electronic Annotation
    more info
     
    iron incorporation into metallo-sulfur cluster IDA
    Inferred from Direct Assay
    more info
    PubMed 
    molybdopterin cofactor biosynthetic process TAS
    Traceable Author Statement
    more info
     
    protein-containing complex assembly TAS
    Traceable Author Statement
    more info
    PubMed 
    small molecule metabolic process TAS
    Traceable Author Statement
    more info
     
    sulfur amino acid metabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    mitochondrial matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrial matrix TAS
    Traceable Author Statement
    more info
     
    mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    cysteine desulfurase, mitochondrial
    Names
    NFS1 nitrogen fixation 1 homolog
    nitrogen fixation 1 (S. cerevisiae, homolog)
    nitrogen-fixing bacteria S-like protein
    NP_001185918.1
    NP_066923.3

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_033237.1 RefSeqGene

      Range
      5001..35678
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001198989.1NP_001185918.1  cysteine desulfurase, mitochondrial isoform b precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an in-frame exon in the 5' coding region, compared to variant 1. This results in a shorter protein (isoform b), compared to isoform a.
      Source sequence(s)
      AK001470, AK223239, AK302023, DA082829, R16676
      Consensus CDS
      CCDS56185.1
      UniProtKB/Swiss-Prot
      Q9Y697
      UniProtKB/TrEMBL
      Q53FP3
      Related
      ENSP00000440897.1, OTTHUMP00000273325, ENST00000541387.5, OTTHUMT00000470232
      Conserved Domains (2) summary
      pfam00266
      Location:60370
      Aminotran_5; Aminotransferase class-V
      cl18945
      Location:58406
      AAT_I; Aspartate aminotransferase (AAT) superfamily (fold type I) of pyridoxal phosphate (PLP)-dependent enzymes. PLP combines with an alpha-amino acid to form a compound called a Schiff base or aldimine intermediate, which depending on the reaction, is the ...
    2. NM_021100.4NP_066923.3  cysteine desulfurase, mitochondrial isoform a precursor

      See identical proteins and their annotated locations for NP_066923.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (a).
      Source sequence(s)
      AK001265, AK001470, AK223239, DA082829, R16676
      Consensus CDS
      CCDS13262.1
      UniProtKB/Swiss-Prot
      Q9Y697
      UniProtKB/TrEMBL
      Q53FP3
      Related
      ENSP00000363205.3, OTTHUMP00000030799, ENST00000374092.8, OTTHUMT00000078936
      Conserved Domains (2) summary
      PRK14012
      Location:58457
      PRK14012; cysteine desulfurase; Provisional
      pfam00266
      Location:60421
      Aminotran_5; Aminotransferase class-V

    RNA

    1. NR_037570.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK001470, AK297969, DA082829, R16676

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p12 Primary Assembly

      Range
      35668688..35699365 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_181679.1: Suppressed sequence

      Description
      NM_181679.1: This RefSeq was permanently suppressed because its 3'' coding region exon was mostly repetitive sequence and the C-terminus of its predicted protein has no support.
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