Human Gene NFS1 (uc002xdx.3)
  Description: Homo sapiens NFS1 nitrogen fixation 1 homolog (S. cerevisiae) (NFS1), transcript variant 3, mRNA.
RefSeq Summary (NM_001198989): 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].
Transcript (Including UTRs)
   Position: hg19 chr20:34,282,501-34,287,287 Size: 4,787 Total Exon Count: 5 Strand: -
Coding Region
   Position: hg19 chr20:34,282,646-34,287,210 Size: 4,565 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr20:34,282,501-34,287,287)mRNA (may differ from genome)Protein (189 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
H-INVHGNCLynxMalacardsMGIOMIM
PubMedTreefamUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: Q8WV90_HUMAN
DESCRIPTION: SubName: Full=Cysteine desulfurase, mitochondrial; SubName: Full=NFS1 nitrogen fixation 1 homolog (S. cerevisiae);
SIMILARITY: Belongs to the class-V pyridoxal-phosphate-dependent aminotransferase family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): NFS1
CDC HuGE Published Literature: NFS1

-  MalaCards Disease Associations
  MalaCards Gene Search: NFS1
Diseases sorted by gene-association score: combined oxidative phosphorylation deficiency 19* (247), xanthinuria (7)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 13.48 RPKM in Testis
Total median expression: 322.40 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -31.2077-0.405 Picture PostScript Text
3' UTR -26.40145-0.182 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000192 - Aminotrans_V/Cys_dSase
IPR015424 - PyrdxlP-dep_Trfase_major_dom
IPR015421 - PyrdxlP-dep_Trfase_major_sub1

Pfam Domains:
PF00266 - Aminotransferase class-V

SCOP Domains:
53383 - PLP-dependent transferases

ModBase Predicted Comparative 3D Structure on Q8WV90
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003824 catalytic activity
GO:0030170 pyridoxal phosphate binding
GO:0031071 cysteine desulfurase activity

Biological Process:
GO:0044571 [2Fe-2S] cluster assembly

Cellular Component:
GO:0005634 nucleus


-  Descriptions from all associated GenBank mRNAs
  LF383756 - JP 2014500723-A/191259: Polycomb-Associated Non-Coding RNAs.
AK001470 - Homo sapiens cDNA FLJ10608 fis, clone NT2RP2005239, highly similar to Cysteine desulfurase, mitochondrial precursor (EC 2.8.1.7).
AK056242 - Homo sapiens cDNA FLJ31680 fis, clone NT2RI2005246, highly similar to Cysteine desulfurase, mitochondrial precursor (EC 2.8.1.7).
BC065560 - Homo sapiens NFS1 nitrogen fixation 1 homolog (S. cerevisiae), mRNA (cDNA clone MGC:74467 IMAGE:6101221), complete cds.
AF097025 - Homo sapiens cysteine desulfurase (nifS) mRNA, complete cds.
AK001265 - Homo sapiens cDNA FLJ10403 fis, clone NT2RM4000471, highly similar to Homo sapiens cysteine desulfurase mRNA.
AK223239 - Homo sapiens mRNA for NFS1 nitrogen fixation 1 isoform a precursor variant, clone: STM03106.
AK297969 - Homo sapiens cDNA FLJ60737 complete cds, highly similar to Cysteine desulfurase, mitochondrial precursor (EC 2.8.1.7).
AK302023 - Homo sapiens cDNA FLJ57225 complete cds, highly similar to Cysteine desulfurase, mitochondrial precursor (EC 2.8.1.7).
AK301969 - Homo sapiens cDNA FLJ57224 complete cds, highly similar to Cysteine desulfurase, mitochondrial precursor (EC 2.8.1.7).
AK312293 - Homo sapiens cDNA, FLJ92597, highly similar to Homo sapiens NFS1 nitrogen fixation 1 (S. cerevisiae) (NFS1), mRNA.
HQ448113 - Synthetic construct Homo sapiens clone IMAGE:100071494; CCSB012359_01 NFS1 nitrogen fixation 1 homolog (S. cerevisiae) (NFS1) gene, encodes complete protein.
AK295215 - Homo sapiens cDNA FLJ57724 complete cds, highly similar to Cysteine desulfurase, mitochondrial precursor (EC 2.8.1.7).
CU688074 - Synthetic construct Homo sapiens gateway clone IMAGE:100021761 5' read NFS1 mRNA.
BC018471 - Homo sapiens NFS1 nitrogen fixation 1 homolog (S. cerevisiae), mRNA (cDNA clone IMAGE:4708433), complete cds.
JF432612 - Synthetic construct Homo sapiens clone IMAGE:100073849 NFS1 nitrogen fixation 1 homolog (S. cerevisiae) (NFS1) gene, encodes complete protein.
LF350355 - JP 2014500723-A/157858: Polycomb-Associated Non-Coding RNAs.
JD407941 - Sequence 388965 from Patent EP1572962.
JD194490 - Sequence 175514 from Patent EP1572962.
MA619333 - JP 2018138019-A/191259: Polycomb-Associated Non-Coding RNAs.
MA585932 - JP 2018138019-A/157858: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00730 - Thiamine metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: JF432612, NM_001198989, NP_001185918, Q8WV90, Q8WV90_HUMAN, RP1-309K20.1-006
UCSC ID: uc002xdx.3
RefSeq Accession: NM_001198989
Protein: Q8WV90

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: JF432612.1
exon count: 5CDS single in 3' UTR: no RNA size: 669
ORF size: 570CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1340.00frame shift in genome: no % Coverage: 85.20
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.