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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

FRRS1 Gene

protein-coding   GIFtS: 44
GCID: GC01M100174

ferric-chelate reductase 1

(Previous name: stromal cell derived factor receptor 2 homolog (mouse)...)
(Previous symbol: SDFR2)
 Explore 4 diseases affiliated with
FRRS1 via our new
 Human Malady Compendium 
Biological research products
for FRRS1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Ferric-Chelate Reductase 11 2     SDR-22 3
SDR21 2 3 5     Stromal Cell Derived Factor Receptor 2 Homolog (Mouse)1
SDFR21 2 3     Stromal Cell Derived Factor Receptor 2 Homolog2
Stromal Cell-Derived Receptor 22 3     EC 1.-.-.-3

External Ids:    HGNC: 276221   Entrez Gene: 3910592   Ensembl: ENSG000001568697   OMIM: 6115785   UniProtKB: Q6ZNA53   

Export aliases for FRRS1 gene to outside databases

Previous GC identifers: GC01M099946 GC01M098296


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for FRRS1:
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)

UniProtKB/Swiss-Prot: FRRS1_HUMAN, Q6ZNA5
Function: Ferric-chelate reductases reduce Fe(3+) to Fe(2+) before its transport from the endosome to the cytoplasm (By
similarity)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_032977.9  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the FRRS1 gene promoter:
         c-Fos   STAT5B   AP-1   AML1a   GATA-1   Evi-1   c-Ets-1   FOXJ2 (long isoform)   c-Jun   FOXJ2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFRRS1 promoter sequence
   Search SABiosciences Chromatin IP Primers for FRRS1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FRRS1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p21.2   Ensembl cytogenetic band:  1p21.2   HGNC cytogenetic band: 1p21.3

FRRS1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FRRS1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M100174:  view genomic region     (about GC identifiers)

Start:
100,174,259 bp from pter      End:
100,232,187 bp from pter
Size:
57,929 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: FRRS1_HUMAN, Q6ZNA5 (See protein sequence)
Recommended Name: Ferric-chelate reductase 1  
Size: 592 amino acids; 66114 Da
Cofactor: Binds 2 heme groups non-covalently (By similarity)
Subcellular location: Membrane; Multi-pass membrane protein (Potential)
Secondary accessions: A6NLN7
Alternative splicing: 2 isoforms:  Q6ZNA5-1   Q6ZNA5-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for FRRS1: NX_Q6ZNA5

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q6ZNA5

  • FRRS1 Protein expression data from MOPED and PaxDb:    About this image 
    FRRS1 Protein Expression
    REFSEQ proteins: NP_001013682.2  
    ENSEMBL proteins: 
     ENSP00000287474   ENSP00000393884  

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    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral to membrane IEA--

    FRRS1 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    FRRS1 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR005018 DOMON_domain
     IPR006593 Cyt_b561/ferric_Rdtase_TM
     IPR002861 Reeler_dom

    Graphical View of Domain Structure for InterPro Entry Q6ZNA5

    ProtoNet protein and cluster: Q6ZNA5

    UniProtKB/Swiss-Prot: FRRS1_HUMAN, Q6ZNA5
    Similarity: Belongs to the FRRS1 family
    Similarity: Contains 1 cytochrome b561 domain
    Similarity: Contains 1 DOMON domain
    Similarity: Contains 1 reelin domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: FRRS1_HUMAN, Q6ZNA5
    Function: Ferric-chelate reductases reduce Fe(3+) to Fe(2+) before its transport from the endosome to the cytoplasm (By
    similarity)

         Enzyme Number (IUBMB): EC 1.-.-.-1

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000293ferric-chelate reductase activity ISS14499595
    GO:0046872metal ion binding IEA--
         
    FRRS1 for ontologies           About GeneDecksing


    Animal Models:
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for FRRS1

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0022900electron transport chain IEA--

    FRRS1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for FRRS1

    1 HMDB Compound for FRRS1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Heme(protoporphyrinato)iron (see all 19)14875-96-8--
    Search CenterWatch for drugs/clinical trials and news about FRRS1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for FRRS1 gene: 
    NM_001013660.2  

    Unigene Cluster for FRRS1:

    Ferric-chelate reductase 1
    Hs.454779  [show with all ESTs]
    Unigene Representative Sequence: AK131302
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000287474 ENST00000489209 ENST00000492943 ENST00000370176 ENST00000414213(uc001dsh.1)


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    Inhib. RNA
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    Additional cDNA sequence: 

    AK131302.1 BC029438.2 

    4 DOTS entries:

    DT.91712936  DT.121408618  DT.91831481  DT.40196035 

    6 AceView cDNA sequences:

    BC029438 BG434509 N26892 AK131302 N39774 AI151193 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    FRRS1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CCAAGATTTT
    FRRS1 Expression
    About this image
    See FRRS1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FRRS1

    SOURCE GeneReport for Unigene cluster: Hs.454779
        SABiosciences Custom PCR Arrays for FRRS1

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FRRS1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for FRRS1 gene from 6/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves FRRS11 ferric-chelate reductase 1 67.86(n)
    60.9(a)
      429082  XM_426638.2  XP_426638.2 
    lizard
    (Anolis carolinensis)
    Reptilia FRRS16
    --
    50(a)
    1 ↔ 1
    4(93298824-93321157)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.258092 Xenopus laevis transcribed sequence with weak similarity more 78.12(n)    CF285881.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1005367071 putative ferric-chelate reductase 1-like 55.2(n)
    47.69(a)
      100536707  XM_003197848.1  XP_003197896.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG83991 CG8399 42.19(n)
    32.25(a)
      36768  NM_137235.2  NP_611079.2 
    worm
    (Caenorhabditis elegans)
    Secernentea C05D12.11 Protein C05D12.1 42.66(n)
    29.76(a)
      174740  NM_064031.4  NP_496432.2 


    ENSEMBL Gene Tree for FRRS1 (if available)
    TreeFam Gene Tree for FRRS1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for FRRS1 gene
    FRRS1L2  

    FRRS1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1067 NCBI SNPs in FRRS1 are shown (see all 1067    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1421763661,2
    --100173796(+) ACAGAC/TCATTC 1 -- ds50010--------
    rs111663041,2
    C,F,A--100173931(+) CAGGCA/GGATCA 1 -- ds50013Minor allele frequency- G:0.33NA WA 6
    rs1879135061,2
    --100173997(+) AATATA/TAAAAA 1 -- ds50010--------
    rs49080061,2
    C--100174086(+) GAGGCG/AGAGCT 1 -- ds50012Minor allele frequency- A:0.00NA 4
    rs75517431,2
    C,A--100174183(+) aaaaaA/Tatata 1 -- ds50010--------
    rs111663051,2
    A--100174210(+) TATATA/GTATAT 1 -- ds50011Minor allele frequency- G:0.00NA 2
    rs111663061,2
    C,A--100174218(+) TATATA/CTCGTA 1 -- ds50010--------
    rs1448244841,2
    --100174231(+) ATATC-/TCTT  
            
    TATTA
    1 -- ds50010--------
    rs2019926161,2
    C--100174234(-) TAATAA/GANNNN 1 -- ds50010--------
    rs1879610731,2
    --100174322(+) AAATAC/TTTGAG 1 -- ut310--------

    HapMap Linkage Disequilibrium report for FRRS1 (100174259 - 100232187 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for FRRS1
         2 CNVs: 69191 69192

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    FRRS1 for disorders           About GeneDecksing

    OMIM gene information: 611578    OMIM disorders: --

    4 diseases for FRRS1:    About MalaCards
    multidrug-resistant tuberculosis    pulmonary tuberculosis    pneumonia    tuberculosis

    1 disease from the University of Copenhagen DISEASES database for FRRS1:
    multidrug-resistant tuberculosis
    Human Genome Epidemiology (HuGE) Navigator: FRRS1 (1 document)

    Export disorders for FRRS1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for FRRS1 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with FRRS1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    2. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)2 Gregory S.G.... Bentley D.R. (2006)
    3. Cytochrome b561 protein family: expanding roles and versatile transmembrane electron transfer abilities as predicted by a new classification system and protein sequence motif analyses. (PubMed id 16169296)2 Tsubaki M.... Nakanishi N. (2005)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)
    5. Stromal cell-derived receptor 2 and cytochrome b561 are functional ferric reductases. (PubMed id 14499595)1 Vargas J.D....Ponting C.P. (2003)
    6. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 391059 HGNC: 27622 AceView: LOC391059 Ensembl:ENSG00000156869 euGenes: HUgn391059
    ECgene: FRRS1 H-InvDB: FRRS1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for FRRS1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for FRRS1 gene:
    Search GeneIP for patents involving FRRS1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
    About This Section

     
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    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013 , 14 May 2013

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    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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