Human Gene FRRS1 (uc001dsh.1)
  Description: Homo sapiens ferric-chelate reductase 1 (FRRS1), mRNA.
RefSeq Summary (NM_001013660): Members of the cytochrome b561 (CYB561; MIM 600019) family, including FRRS1, reduce ferric to ferrous iron before its transport from the endosome to the cytoplasm (Vargas et al., 2003 [PubMed 14499595]).[supplied by OMIM, Mar 2008]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.
Transcript (Including UTRs)
   Position: hg19 chr1:100,174,259-100,231,349 Size: 57,091 Total Exon Count: 17 Strand: -
Coding Region
   Position: hg19 chr1:100,174,454-100,214,324 Size: 39,871 Coding Exon Count: 15 

Page IndexSequence and LinksPrimersGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:100,174,259-100,231,349)mRNA (may differ from genome)Protein (626 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
HGNCHPRDLynxMalacardsMGIOMIM
PubMedUniProtKBBioGrid CRISPR DB

-  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): FRRS1
CDC HuGE Published Literature: FRRS1

-  MalaCards Disease Associations
  MalaCards Gene Search: FRRS1
Diseases sorted by gene-association score: multidrug-resistant tuberculosis (2)

-  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: 4.44 RPKM in Esophagus - Mucosa
Total median expression: 59.69 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 -197.40602-0.328 Picture PostScript Text
3' UTR -41.00195-0.210 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
  Pfam Domains:
PF02014 - Reeler domain
PF03351 - DOMON domain

ModBase Predicted Comparative 3D Structure on Q6ZNA5-2
FrontTopSide
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 orthologNo orthologGenome BrowserGenome BrowserGenome BrowserNo ortholog
Gene Details  Gene DetailsGene Details 
Gene Sorter  Gene SorterGene Sorter 
  EnsemblFlyBaseWormBase 
  Protein SequenceProtein SequenceProtein Sequence 
  AlignmentAlignmentAlignment 

-  Descriptions from all associated GenBank mRNAs
  AK131302 - Homo sapiens cDNA FLJ16275 fis, clone NT2RI2027157, moderately similar to Mouse SDR2 mRNA.
BC157016 - Synthetic construct Homo sapiens clone IMAGE:100062841, MGC:190630 ferric-chelate reductase 1 (FRRS1) mRNA, encodes complete protein.
BC156175 - Synthetic construct Homo sapiens clone IMAGE:100062479, MGC:190527 ferric-chelate reductase 1 (FRRS1) mRNA, encodes complete protein.
BC029438 - Homo sapiens cDNA clone IMAGE:4603717, partial cds.
JD434607 - Sequence 415631 from Patent EP1572962.
JD098696 - Sequence 79720 from Patent EP1572962.
JD091195 - Sequence 72219 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
PWY-5934 - Fe(III)-reduction and Fe(II) transport

-  Other Names for This Gene
  Alternate Gene Symbols: NM_001013660, NP_001013682, Q6ZNA5-2, SDFR2, SDR2
UCSC ID: uc001dsh.1
RefSeq Accession: NM_001013660
Protein: Q6ZNA5-2, splice isoform of Q6ZNA5 CCDS: CCDS30780.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001013660.2
exon count: 17CDS single in 3' UTR: no RNA size: 2678
ORF size: 1881CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 3279.50frame shift in genome: no % Coverage: 100.00
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.