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    NFS1 NFS1 cysteine desulfurase [ Homo sapiens (human) ]

    Gene ID: 9054, updated on 9-Dec-2024

    Summary

    Official Symbol
    NFS1provided by HGNC
    Official Full Name
    NFS1 cysteine desulfuraseprovided by HGNC
    Primary source
    HGNC:HGNC:15910
    See related
    Ensembl:ENSG00000244005 MIM:603485; AllianceGenome:HGNC:15910
    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; COXPD52; 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
    NEW
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    Genomic context

    See NFS1 in Genome Data Viewer
    Location:
    20q11.22
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (35668052..35699352, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (37389027..37420327, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (34255974..34287274, 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 ATAC-STARR-seq lymphoblastoid active region 17790 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:34251645-34252150 Neighboring gene Sharpr-MPRA regulatory region 3991 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:34252655-34253159 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:34286841-34287500 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:34287501-34288160 Neighboring gene reactive oxygen species modulator 1 Neighboring gene RNA binding motif protein 39 Neighboring gene small nucleolar RNA U13

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Potential readthrough

    Included gene: CPNE1

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cysteine desulfurase activity EXP
    Inferred from Experiment
    more info
    PubMed 
    enables cysteine desulfurase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables cysteine desulfurase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables iron-sulfur cluster binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables pyridoxal phosphate binding IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    part_of iron-sulfur cluster assembly complex NAS
    Non-traceable Author Statement
    more info
    PubMed 
    part_of mitochondrial [2Fe-2S] assembly complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrial matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
     
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrion NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    cysteine desulfurase
    Names
    NFS1 nitrogen fixation 1 homolog
    cysteine desulfurase, mitochondrial
    nitrogen fixation 1 (S. cerevisiae, homolog)
    nitrogen-fixing bacteria S-like protein
    NP_001185918.1
    NP_066923.3

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      5014..36314
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001198989.2NP_001185918.1  cysteine desulfurase 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, AL109827, R16676
      Consensus CDS
      CCDS56185.1
      UniProtKB/TrEMBL
      Q53FP3
      Related
      ENSP00000440897.1, ENST00000541387.5
      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_021100.5NP_066923.3  cysteine desulfurase 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, AL109827, DA082829, R16676
      Consensus CDS
      CCDS13262.1
      UniProtKB/Swiss-Prot
      B3KMA5, B4DXK9, E1P5R8, F5GYK5, Q6P0L8, Q9NTZ5, Q9Y481, Q9Y697
      UniProtKB/TrEMBL
      Q53FP3
      Related
      ENSP00000363205.3, ENST00000374092.9
      Conserved Domains (2) summary
      PRK14012
      Location:58457
      PRK14012; cysteine desulfurase; Provisional
      pfam00266
      Location:60421
      Aminotran_5; Aminotransferase class-V

    RNA

    1. NR_037570.3 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, AL109827, R16676

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      35668052..35699352 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      37389027..37420327 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.