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NFS1 NFS1 cysteine desulfurase [ Homo sapiens (human) ]

Gene ID: 9054, updated on 5-Jul-2020

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
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

Genomic context

See NFS1 in Genome Data Viewer
Location:
20q11.22
Exon count:
14
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (35668052..35699352, 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

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

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cysteine desulfurase activity EXP
Inferred from Experiment
more info
PubMed 
cysteine desulfurase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cysteine desulfurase activity IDA
Inferred from Direct Assay
more info
PubMed 
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 
iron-sulfur cluster assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
molybdopterin cofactor biosynthetic process TAS
Traceable Author Statement
more info
 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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, 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, AL109827, R16676
    Consensus CDS
    CCDS56185.1
    UniProtKB/Swiss-Prot
    Q9Y697
    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, 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, AL109827, DA082829, R16676
    Consensus CDS
    CCDS13262.1
    UniProtKB/Swiss-Prot
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

    Range
    35668052..35699352 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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