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RFESD Gene

protein-coding   GIFtS: 45
GCID: GC05P094982

Rieske (Fe-S) Domain Containing

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): antisense

Quality score for the ORGUL clustered with this gene is 3

Aliases
Rieske (Fe-S) Domain Containing1 2
Rieske Domain-Containing Protein2

External Ids:    HGNC: 295871   Entrez Gene: 3176712   Ensembl: ENSG000001754497   UniProtKB: Q8TAC13   
ORGUL members:         

Export aliases for RFESD gene to outside databases

Previous GC identifers: GC05P095009 GC05P090172


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for RFESD Gene:
RFESD (Rieske (Fe-S) domain containing) is a protein-coding gene. GO annotations related to this gene include oxidoreductase activity and 2 iron, 2 sulfur cluster binding.


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000005.9  NC_018916.2  NT_034772.7  
Regulatory elements:
   Regulatory transcription factor binding sites in the RFESD gene promoter:
         COUP   Meis-1a   Meis-1   Meis-1b   C/EBPalpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRFESD promoter sequence
   Search Chromatin IP Primers for RFESD

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RFESD


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

Entrez Gene cytogenetic band: 5q15   Ensembl cytogenetic band:  5q15   HGNC cytogenetic band: 5q15

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

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P094982:  view genomic region     (about GC identifiers)

Start:
94,982,458 bp from pter      End:
95,020,477 bp from pter
Size:
38,020 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: RFESD_HUMAN, Q8TAC1 (See protein sequence)
Recommended Name: Rieske domain-containing protein  
Size: 157 amino acids; 17762 Da
Cofactor: Binds 1 2Fe-2S cluster per subunit (By similarity)
Secondary accessions: J3KPH1
Alternative splicing: 2 isoforms:  Q8TAC1-1   Q8TAC1-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for RFESD: NX_Q8TAC1

Explore proteomics data for RFESD at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See RFESD Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001124537.1  NP_001124538.1  NP_775498.1  

    ENSEMBL proteins: 
     ENSP00000422520   ENSP00000369341   ENSP00000309229   ENSP00000425632   ENSP00000413592  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR017941 Rieske_2Fe-2S

    Graphical View of Domain Structure for InterPro Entry Q8TAC1

    ProtoNet protein and cluster: Q8TAC1

    1 Blocks protein domain: IPB005806 Rieske [2Fe-2S] domain

    UniProtKB/Swiss-Prot: RFESD_HUMAN, Q8TAC1
    Similarity: Contains 2 Rieske domains


    Find genes that share domains with RFESD           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016491oxidoreductase activity IEA--
    GO:0046872metal ion binding IEA--
    GO:00515372 iron, 2 sulfur cluster binding IEA--
         
    Find genes that share ontologies with RFESD           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for RFESD:
     Decreased viability with pacli  Increased cell number in G1, a  Increased gamma-H2AX phosphory 

    Animal Models:
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    SwitchGear 3'UTR luciferase reporter plasmidRFESD 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular2
    golgi apparatus2
    mitochondrion2
    nucleus1
    peroxisome1

    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for RFESD
    Interactions:

        Search GeneGlobe Interaction Network for RFESD

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0055114oxidation-reduction process ----

    Find genes that share ontologies with RFESD           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for RFESD



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for RFESD gene (3 alternative transcripts): 
    NM_001131065.1  NM_001131066.1  NM_173362.3  

    Unigene Cluster for RFESD:

    Rieske (Fe-S) domain containing
    Hs.399758  [show with all ESTs]
    Unigene Representative Sequence: NM_001131065
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000511684 ENST00000380005(uc003klg.3) ENST00000506212 ENST00000311364(uc003klf.3)
    ENST00000504893 ENST00000513950 ENST00000508206 ENST00000458310(uc011cun.2)

    miRNA
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    3 qRT-PCR Assays for microRNAs that regulate RFESD:
    hsa-miR-630 hsa-miR-500a hsa-miR-646
    SwitchGear 3'UTR luciferase reporter plasmidRFESD 3' UTR sequence
    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat RFESD
      QuantiFast Probe-based Assays in human, mouse, rat RFESD

    Additional mRNA sequence: 

    BC024023.1 BC035110.2 BC048979.1 

    4 DOTS entries:

    DT.95140409  DT.100810132  DT.107837  DT.95299614 

    Selected AceView cDNA sequences (see all 36):

    CR624547 BC048979 AW611803 AI038033 AI769245 H92189 AA758559 BM263054 
    BX089487 AA126663 BI768779 BI551847 BM142627 BX345592 BX500806 BC035110 
    BE043953 BG772862 BM263616 BC024023 BX345591 BU534069 BX114571 NM_173362 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    RFESD expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGAGATGTAA
    RFESD Expression
    About this image


    RFESD expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Neurons
             nGnG Amacrine Cells Inner Nuclear Layer
     
     Eye (Sensory Organs)
             nGnG Amacrine Cells Inner Nuclear Layer
     
     Testis (Reproductive System)
     
     Liver (Hepatobiliary System)
    RFESD Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RFESD Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.399758
        Custom PCR Arrays for RFESD
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RFESD

    (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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for RFESD gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rfesd1 , 5 Rieske (Fe-S) domain containing1, 5 87.26(n)1
    86.62(a)1
      13 (40.95 cM)5
    2183411  NM_178916.51  NP_849247.31 
     760015355 
    chicken
    (Gallus gallus)
    Aves RFESD1 Rieske (Fe-S) domain containing 64.86(n)
    56.63(a)
      427118  XM_424710.4  XP_424710.2 
    lizard
    (Anolis carolinensis)
    Reptilia RFESD6
    Rieske (Fe-S) domain containing
    60(a)
    1 ↔ 1
    2(25921630-25934851)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia rfesd1 Rieske (Fe-S) domain containing 65.99(n)
    57.82(a)
      100496260  XM_002933425.2  XP_002933471.2 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5598591 Rieske domain-containing protein-like 61.87(n)
    56.82(a)
      559859  XM_683247.2  XP_688339.2 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for RFESD gene

    Find genes that share paralogs with RFESD           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for RFESD
    PGOHUM00000248525


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for RFESD (see all 218)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1850450031,2
    --94980684(+) TAAGAC/TGTGTC 3 -- us2k10--------
    rs1899024761,2
    --94980795(+) CATGTG/TCCAAT 3 -- us2k10--------
    rs1824741471,2
    --94981335(+) CCAAGC/TGACTC 3 -- us2k10--------
    rs1880428041,2
    C--94981409(+) GCTCAC/TCTAGT 3 -- us2k10--------
    rs731496051,2
    C,F--94981470(+) TGTTGC/TTGTCA 3 -- us2k11Minor allele frequency- T:0.50WA 2
    rs1135666421,2
    C,F--94981490(+) AGTACC/AATGAG 3 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs1461307781,2
    C--94981512(+) ATTGC-/AAAGTT 3 -- us2k10--------
    rs3712832411,2
    C--94981564(+) AACCA-/TATATTGT 3 -- us2k10--------
    rs343033541,2
    C--94981834(+) AAACA-/TTTTTT 3 -- us2k12Minor allele frequency- T:0.25NA CSA 4
    rs1419670591,2
    --94981861(+) GTTTCC/GCTCGT 3 -- us2k10--------

    HapMap Linkage Disequilibrium report for RFESD (94982458 - 95020477 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for RFESD:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2659181CNV Deletion23128226

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing RFESD
    DNA2.0 Custom Variant and Variant Library Synthesis for RFESD

    (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.)
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      --

    (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)
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    PubMed articles for RFESD gene integrated from 10 sources:
    (articles sorted by number of sources associating them with RFESD)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    2. N-terminal acetylome analyses and functional insights of the N- terminal acetyltransferase NatB. (PubMed id 22814378)2 Van Damme P....Aldabe R. (Proc. Natl. Acad. Sci. U.S.A. 2012)
    3. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    4. Decoding the fine-scale structure of a breast cancer genome and transcriptome. (PubMed id 16461635)1 Volik S....Collins C. (Genome Res. 2006)
    5. The DNA sequence and comparative analysis of human chromosome 5. (PubMed id 15372022)2 Schmutz J.... Rubin E.M. (Nature 2004)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 317671 HGNC: 29587 AceView: LOC317671 Ensembl:ENSG00000175449 euGenes: HUgn317671
    ECgene: RFESD H-InvDB: RFESD

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for RFESD Pharmacogenomics, SNPs, Pathways

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

    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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     Block miRNA regulation of human, mouse, rat RFESD using miScript Target Protectors SeqTarget long-range PCR primers for resequencing RFESD
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RFESD Predesigned siRNA for gene silencing in human, mouse, rat RFESD
     QuantiFast Probe-based Assays in human, mouse, rat RFESD QuantiTect SYBR Green Assays in human, mouse, rat RFESD
     Custom PCR Arrays for RFESD Search Chromatin IP Primers for RFESD
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat RFESD  Search GeneGlobe Interaction Network for RFESD
     Regulatory tfbs in RFESD promoter
     GenScript Custom Purified and Recombinant Proteins Services for RFESD GenScript cDNA clones with any tag delivered in your preferred vector for RFESD
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     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
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     Search for Antibodies & Assays

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     Browse Sino Biological Proteins
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     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
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     SwitchGear 3'UTR luciferase reporter plasmids for RFESD
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     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for RFESD
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for RFESD
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     Search Addgene for plasmids for RFESD
      Search eBioscience for proteins for RFESD
      Search eBioscience for elisas for RFESD
      eBioscience FlowRNA Probe Sets
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

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