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

SFXN5 Gene

protein-coding   GIFtS: 48
GCID: GC02M073169

sideroflexin 5

  Search for SFXN5
in our new
 Human Malady Compendium 
Biological research products
for SFXN5
    

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

Aliases
Sideroflexin 51 2
BBG-TCC1 2
Sideroflexin-51

External Ids:    HGNC: 160731   Entrez Gene: 940972   Ensembl: ENSG000001440407   UniProtKB: Q8TD223   

Export aliases for SFXN5 gene to outside databases

Previous GC identifers: GC02M073178 GC02M073379 GC02M073143 GC02M073080 GC02M072904


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

UniProtKB/Swiss-Prot: SFXN5_HUMAN, Q8TD22
Function: Transports citrate. Potential iron transporter (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_000002.11  NC_018913.1  NT_022184.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SFXN5 gene promoter:
         TBP   USF1   Lmo2   Nkx2-5   NF-kappaB   NF-kappaB2   HOXA5   USF-1   SEF-1 (1)   LyF-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSFXN5 promoter sequence
   Search SABiosciences Chromatin IP Primers for SFXN5

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SFXN5


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

Ensembl cytogenetic band:  2p13.2   HGNC cytogenetic band: 2p13

SFXN5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SFXN5 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M073169:  view genomic region     (about GC identifiers)

Start:
73,169,165 bp from pter      End:
73,302,747 bp from pter
Size:
133,583 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: SFXN5_HUMAN, Q8TD22 (See protein sequence)
Recommended Name: Sideroflexin-5  
Size: 340 amino acids; 37124 Da
Subcellular location: Mitochondrion membrane; Multi-pass membrane protein (By similarity)
Secondary accessions: A8K116 Q494Y3 Q53T29

Explore the universe of human proteins at neXtProt for SFXN5: NX_Q8TD22

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8TD22

  • SFXN5 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_653180.1  
    ENSEMBL proteins: 
     ENSP00000272433   ENSP00000402141   ENSP00000387076   ENSP00000398580   ENSP00000396825  

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    Uscn Proteins for SFXN5

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005743mitochondrial inner membrane IEA--
    GO:0016020membrane ----
    GO:0016021integral to membrane IEA--


    SFXN5 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for SFXN5


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

    SFXN5 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR004686 Mtc

    Graphical View of Domain Structure for InterPro Entry Q8TD22

    ProtoNet protein and cluster: Q8TD22

    1 Blocks protein family: IPB004686 Tricarboxylate/iron carrier

    UniProtKB/Swiss-Prot: SFXN5_HUMAN, Q8TD22
    Similarity: Belongs to the sideroflexin family


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

    Function Summary:

         UniProtKB/Swiss-Prot: SFXN5_HUMAN, Q8TD22
    Function: Transports citrate. Potential iron transporter (By similarity)

    miRNA
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    hsa-miR-640 hsa-miR-3616-5p hsa-miR-106a hsa-miR-519a hsa-miR-218 hsa-miR-548l hsa-miR-133a hsa-miR-93
    SwitchGear 3'UTR luciferase reporter plasmidSFXN5 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SFXN5 (see all 7)
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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008324cation transmembrane transporter activity IEA--
    GO:0015137citrate transmembrane transporter activity IEA--


    SFXN5 for ontologies           About GeneDecksing



    (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 SFXN5

    5/25 Interacting proteins for SFXN5 (Q8TD223) via UniProtKB, MINT, STRING, and/or I2D (see all 25)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000258947Q135093I2D: score=1 
    TUBB3Q135093I2D: score=1 
    GTF2BQ004033I2D: score=5 
    PSMD2Q132003I2D: score=2 
    ATP6V1B2P212813I2D: score=1 
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0055072iron ion homeostasis IEA--


    SFXN5 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
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SFXN5

    1 HMDB Compound for SFXN5    About this table
    CompoundSynonyms CAS #PubMed Ids
    IronArmco iron (see all 19)7439-89-6--
    Search CenterWatch for drugs/clinical trials and news about SFXN5 

    (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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    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 SFXN5 gene: 
    NM_144579.2  

    Unigene Cluster for SFXN5:

    Sideroflexin 5
    Hs.368171  [show with all ESTs]
    Unigene Representative Sequence: BX640669
    18/22 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 22):
    ENST00000474528(uc010fer.3 uc010feq.3 uc010fes.3 uc002sio.3 uc010yrc.2)
    ENST00000461352(uc002sip.3) ENST00000272433(uc002siq.3 uc010fet.3)
    ENST00000495208 ENST00000490056 ENST00000482289 ENST00000411783 ENST00000410065
    ENST00000482542 ENST00000463277 ENST00000416579 ENST00000464825 ENST00000450185
    ENST00000442582 ENST00000487508 ENST00000497144 ENST00000479293 ENST00000485057


    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SFXN5
    8/49 QIAGEN miScript miRNA Assays for microRNAs that regulate SFXN5 (see all 49):
    hsa-miR-640 hsa-miR-3616-5p hsa-miR-106a hsa-miR-519a hsa-miR-218 hsa-miR-548l hsa-miR-133a hsa-miR-93
    SwitchGear 3'UTR luciferase reporter plasmidSFXN5 3' UTR sequence
    Inhib. RNA
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    Additional cDNA sequence: 

    AK024193.1 AK025170.1 AK094205.1 AK289731.1 AK294751.1 AK295637.1 AK307116.1 AK308863.1 
    AK309091.1 AK314770.1 AK315861.1 AL833454.1 AY044437.1 BC013233.1 BC018640.2 BC046630.1 
    BC101311.2 BC101312.1 BC101313.2 BX640669.1 EU219624.1 

    14 DOTS entries:

    DT.99941472  DT.208910  DT.97801538  DT.97838895  DT.100705749  DT.70101540  DT.91812330  DT.91999279 
    DT.100026684  DT.120932170  DT.91680849  DT.92330303  DT.95223133  DT.91816398 

    24/367 AceView cDNA sequences (see all 367):

    AA351245 AA295382 BI252970 AB020664 CF264797 CA867527 BU197247 AU140662 
    CA421698 BC046630 BF194855 CF272210 AL712770 BU196335 AL704545 BQ219103 
    BM997211 AI657161 R14459 BU856868 BU528165 AA351734 CA313291 AK094205 

    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for SFXN5 (see all 7)    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b · 16c
    SP1:        -     -     -           -                                                                                       
    SP2:                                                                                -                                       
    SP3:                                                                                                                        
    SP4:                                -                                                                                       
    SP5:              -     -           -                                                                                       


    ECgene alternative splicing isoforms for SFXN5

    (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

    SFXN5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CCCTCAGGCT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See SFXN5 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SFXN5

    SOURCE GeneReport for Unigene cluster: Hs.368171

    UniProtKB/Swiss-Prot: SFXN5_HUMAN, Q8TD22
    Tissue specificity: Primarily expressed in the brain

        SABiosciences Expression via Pathway-Focused PCR Array including SFXN5: 
              Neurotoxicity in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SFXN5

    (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 and fungi.

    Orthologs for SFXN5 gene from 5/23 species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves SFXN51 sideroflexin 5 79.85(n)
    89.72(a)
      422954  XM_420891.3  XP_420891.3 
    lizard
    (Anolis carolinensis)
    Reptilia SFXN56
    --
    85(a)
    1 ↔ 1
    GL343814.1(76123-154018)
    zebrafish
    (Danio rerio)
    Actinopterygii sfxn5b1 sideroflexin 5b 71.95(n)
    77.95(a)
      561995  NM_001030163.1  NP_001025334.1 
    worm
    (Caenorhabditis elegans)
    Secernentea sre-23
    sfxn-51
    Protein SFXN-51 47(a)3
    52.05(n)1
    50.79(a)1
      II(8099740-8101439)3
    1743031  NM_001026851.21  NP_001022022.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes FSF1(YOR271C)4
    FSF11
    Putative protein, predicted to be an alpha-isopropylmalate more4
    Fsf1p1
    47.46(n)1
    41.39(a)1
      15(832042-831059)4
    8544451, 4  NP_014914.11, 4 


    ENSEMBL Gene Tree for SFXN5 (if available)
    TreeFam Gene Tree for SFXN5 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SFXN5 gene
    SFXN42  SFXN12  SFXN22  SFXN32  
    3 SIMAP similar genes for SFXN5 using alignment to 5 protein entries:     SFXN5_HUMAN (see all proteins):
    SFXN1    SFXN2    SFXN3

    SFXN5 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for SFXN5
    PGOHUM00000240269


    (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

    10/2035 NCBI SNPs in SFXN5 are shown (see all 2035    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1486552361,2
    --73168848(+) AGCCTC/TATGGA 1 -- ds50010--------
    rs1923169121,2
    --73168892(+) CTCACA/GTTCCT 1 -- ds50010--------
    rs1842490461,2
    --73168920(+) GTGAGC/TGCTCA 1 -- ds50010--------
    rs1435164811,2
    --73168965(+) CACTGC/GCCTGT 1 -- ds50010--------
    rs773732161,2
    --73169012(+) CCTCTG/AGGCCT 1 -- ds50012Minor allele frequency- A:0.09CSA WA 120
    rs1412640251,2
    --73169144(+) CCACAA/GTTCAC 1 -- ds50010--------
    rs1876171701,2
    --73169250(+) AAAGAC/TGCTGC 1 -- ut310--------
    rs1932177251,2
    --73169279(+) CTGAGG/TCTTGC 1 -- ut310--------
    rs581996431,2
    C,--73169495(+) TGCTGT/-CTGGG 1 -- ut311Minor allele frequency- -:0.50CSA 2
    rs10487041,2
    C,F,H,--73169500(-) CCATTC/TCCAGA 1 -- ut31 ese321Minor allele frequency- T:0.31MN NS EA NA CSA WA 2527

    HapMap Linkage Disequilibrium report for SFXN5 (73169165 - 73302747 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 6 variations for SFXN5
         4 CNVs: 97882 67976 89724 89725
         2 Indels: 40336 46036

    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for SFXN5

    (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

    SFXN5 for disorders           About MalaCards

    SFXN5 for disorders           About GeneDecksing

    Human Genome Epidemiology (HuGE) Navigator: SFXN5 (1 document)

    Export disorders for SFXN5 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 SFXN5 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with SFXN5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The human sideroflexin 5 (SFXN5) gene: sequence, expression analysis and exclusion as a candidate for PARK3. (PubMed id 12039050)1, 2, 3 Lockhart P.J.... Farrer M.J. (2002)
    2. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W....Wilson R.K. (2005)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. Identification and characterization of a novel mitochondrial tricarboxylate carrier. (PubMed id 12150972)1, 3 Miyake S....Tohyama M. (2002)
    6. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1 Hendrickson S.L....O'Brien S.J. (2010)
    7. 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)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 94097 HGNC: 16073 AceView: RAB11FIP5andSFXN5 Ensembl:ENSG00000144040 euGenes: HUgn94097
    ECgene: SFXN5 H-InvDB: SFXN5

    (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 SFXN5 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 SFXN5 gene:
    Search GeneIP for patents involving SFXN5

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



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