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

SFXN3 Gene

protein-coding   GIFtS: 49
GCID: GC10P102781

Sideroflexin 3

  Search for SFXN3
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Sideroflexin 31 2
BA108L7.22
SFX32
sideroflexin-32

External Ids:    HGNC: 160871   Entrez Gene: 818552   Ensembl: ENSG000001078197   UniProtKB: Q9BWM73   

Export aliases for SFXN3 gene to outside databases

Previous GC identifers: GC00U991057 GC10P096420


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

GeneCards Summary for SFXN3 Gene: 
SFXN3 (sideroflexin 3) is a protein-coding gene. GO annotations related to this gene include cation transmembrane transporter activity. An important paralog of this gene is SFXN4.

UniProtKB/Swiss-Prot: SFXN3_HUMAN, Q9BWM7
Function: Potential iron transporter




(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000010.10  NT_030059.13  NC_018921.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SFXN3 gene promoter:
         Bach1   RFX1   CUTL1   C/EBPalpha   GATA-1   AREB6   PPAR-alpha   PPAR-gamma1   c-Rel   MRF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSFXN3 promoter sequence
   Search SABiosciences Chromatin IP Primers for SFXN3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SFXN3


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

Entrez Gene cytogenetic band: 10q24.31   Ensembl cytogenetic band:  10q24.31   HGNC cytogenetic band: 10q24.32

SFXN3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SFXN3 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10P102781:  view genomic region     (about GC identifiers)

Start:
102,790,991 bp from pter      End:
102,800,998 bp from pter
Size:
10,008 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: SFXN3_HUMAN, Q9BWM7 (See protein sequence)
Recommended Name: Sideroflexin-3  
Size: 325 amino acids; 35979 Da
Subcellular location: Mitochondrion membrane; Multi-pass membrane protein
Caution: It is uncertain whether Met-1 or Met-5 is the initiator
Secondary accessions: Q8NCJ0 Q9NTP4

Explore the universe of human proteins at neXtProt for SFXN3: NX_Q9BWM7

Explore proteomics data for SFXN3 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9BWM7

  • SFXN3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SFXN3 Protein Expression
    REFSEQ proteins: NP_112233.2  
    ENSEMBL proteins: 
     ENSP00000377103   ENSP00000474564   ENSP00000224807  

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    Browse Sino Biological Cell Lysates 
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    Cloud-Clone Corp. Proteins for SFXN3 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA--
    GO:0016020membrane ----
    GO:0016021integral to membrane IEA--
    GO:0031966mitochondrial membrane IEA--

    SFXN3 for ontologies           About GeneDecksing



    SFXN3 Antibody Products: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    SFXN: Sideroflexins

    1 InterPro protein domain:
     IPR004686 Mtc

    Graphical View of Domain Structure for InterPro Entry Q9BWM7

    ProtoNet protein and cluster: Q9BWM7

    1 Blocks protein domain: IPB004686 Tricarboxylate/iron carrier

    UniProtKB/Swiss-Prot: SFXN3_HUMAN, Q9BWM7
    Similarity: Belongs to the sideroflexin family


    SFXN3 for domains           About GeneDecksing


    (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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SFXN3_HUMAN, Q9BWM7
    Function: Potential iron transporter

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008324cation transmembrane transporter activity IEA--
         
    SFXN3 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for SFXN3:
     Decreased NANOG protein expres  Decreased OCT4 protein express  Decreased POU5F1-GFP protein e 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for SFXN3 
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    8/11 QIAGEN miScript miRNA Assays for microRNAs that regulate SFXN3 (see all 11):
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    SwitchGear 3'UTR luciferase reporter plasmidSFXN3 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SFXN3 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Validated targets of C-MYC transcriptional repression
    Validated targets of C-MYC transcriptional repression


    1 BioSystems Pathway for SFXN3
        Validated targets of C-MYC transcriptional repression


    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SFXN3

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    5/11 Interacting proteins for SFXN3 (Q9BWM73 ENSP000002248074) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CFTRP135693I2D: score=1 
    CLN3Q132863I2D: score=1 
    DLG4P783523I2D: score=1 
    GRID2O434243I2D: score=1 
    SLC2A4P146723I2D: score=1 
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006812cation transport ----
    GO:0055072iron ion homeostasis IEA--
    GO:0055085transmembrane transport ----

    SFXN3 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 SFXN3

    1 HMDB Compound for SFXN3    About this table
    CompoundSynonyms CAS #PubMed Ids
    IronArmco iron (see all 19)7439-89-6--

    Search CenterWatch for drugs/clinical trials and news about SFXN3

    (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,
    Conferences by KenesGroup, 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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SFXN3 gene: 
    NM_030971.3  

    Unigene Cluster for SFXN3:

    Sideroflexin 3
    Hs.283844  [show with all ESTs]
    Unigene Representative Sequence: AK091504
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000393459(uc001ksp.3 uc010qpx.2) ENST00000489434 ENST00000465383
    ENST00000487721 ENST00000466982 ENST00000470252 ENST00000224807
    miRNA
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    8/11 QIAGEN miScript miRNA Assays for microRNAs that regulate SFXN3 (see all 11):
    hsa-miR-4324 hsa-miR-4283 hsa-miR-3194-5p hsa-miR-15a hsa-miR-3924 hsa-miR-497 hsa-miR-424 hsa-miR-3119
    SwitchGear 3'UTR luciferase reporter plasmidSFXN3 3' UTR sequence
    Inhib. RNA
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SFXN3
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SFXN3

    Additional mRNA sequence: 

    AK074707.1 AK091504.1 AK093011.1 AK299405.1 BC000124.1 

    13 DOTS entries:

    DT.100732820  DT.117566  DT.40114554  DT.121238733  DT.40244331  DT.99953089  DT.100716642  DT.121238784 
    DT.100781687  DT.121238778  DT.121238788  DT.95363720  DT.92447174 

    24/162 AceView cDNA sequences (see all 162):

    BQ223306 F01846 BI908654 BU617280 NM_030971 Z42317 T30958 BG254227 
    BU184941 T31239 AI732397 AA293453 BM451364 CD370488 CO246073 CA488624 
    BQ887722 CF125913 F08208 F04451 BQ959114 BC000124 T30448 BM772320 

    GeneLoc Exon Structure

    5/10 Alternative Splicing Database (ASD) splice patterns (SP) for SFXN3 (see all 10)    About this scheme

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


    ECgene alternative splicing isoforms for SFXN3

    (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

    SFXN3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACCTCTGGCT
    SFXN3 Expression
    About this image


    See SFXN3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SFXN3

    SOURCE GeneReport for Unigene cluster: Hs.283844
        SABiosciences Custom PCR Arrays for SFXN3
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    In Situ
    Assay Products:
     

     
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    (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 SFXN3 gene from 7/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sfxn31 , 5 sideroflexin 31, 5 88.47(n)1
    93.77(a)1
      19 (38.26 cM)5
    942801  NM_053197.41  NP_444427.11 
     450475765 
    chicken
    (Gallus gallus)
    Aves SFXN31 sideroflexin 3 74.74(n)
    77.36(a)
      428972  XM_426529.3  XP_426529.3 
    lizard
    (Anolis carolinensis)
    Reptilia SFXN36
    sideroflexin 3
    78(a)
    1 ↔ 1
    GL343239.1(208246-230875)
    zebrafish
    (Danio rerio)
    Actinopterygii sfxn31 sideroflexin 3 70.62(n)
    76.25(a)
      791182  NM_001080664.1  NP_001074133.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG117396
    --
    53(a)
    1 → many
    3R(204386-206932)
    worm
    (Caenorhabditis elegans)
    Secernentea sfxn-1.56
    sfxn-1.46
    (see all 5)
    Protein SFXN-1.4, isoform a
    (see all 5)
    53(a)
    52(a)
    (see all 5)
    many ↔ many
    many ↔ many
    (see all 5)
    X(11659610-11661660)
    II(11679097-11681035)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes FSF16
    Putative protein, predicted to be an alpha-isoprop...
    38(a)
    1 → many
    XV(831059-832042)


    ENSEMBL Gene Tree for SFXN3 (if available)
    TreeFam Gene Tree for SFXN3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SFXN3 gene
    SFXN42  SFXN12  SFXN52  SFXN22  
    3 SIMAP similar genes for SFXN3 using alignment to 1 protein entry:     SFXN3_HUMAN:
    SFXN1    SFXN2    SFXN5

    SFXN3 for paralogs           About GeneDecksing



    (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) 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

    10/192 SNPs in SFXN3 are shown (see all 192)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs118122361,2
    C,F,H--102793044(+) GTGTGT/CAATAT 1 -- int113Minor allele frequency- C:0.03NS EA NA WA CSA 1214
    rs1427988561,2
    --102793089(+) GTGGCC/TGGGAT 1 -- int10--------
    rs578479801,2
    --102793321(+) CTGTGC/GGTATT 1 -- int10--------
    rs1825671451,2
    --102793322(+) TGTGGA/GTATTT 1 -- int10--------
    rs1408929741,2
    --102793371(+) ACACAG/TAGACA 1 -- int10--------
    rs1433488421,2
    --102793410(+) GGGACC/TGGCGT 1 -- int10--------
    rs1853359641,2
    --102793413(+) ACCGGA/CGTTCA 1 -- int10--------
    rs1124182621,2
    C--102793439(+) GCACCA/GGCACC 1 -- int10--------
    rs8070501,2
    C,F,A,H--102793508(-) actacT/Gacatt 1 -- int124Minor allele frequency- G:0.28NS EA NA WA CSA 2533
    rs1908727131,2
    --102793538(+) GAGAAG/TGTCAG 1 -- int10--------

    HapMap Linkage Disequilibrium report for SFXN3 (102790991 - 102800998 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for SFXN3:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv7525CNV Insertion18451855
    nsv895963CNV Loss21882294
    nsv831965CNV Loss17160897

    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing SFXN3
    DNA2.0 Custom Variant and Variant Library Synthesis for SFXN3

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

    SFXN3 for disorders           About MalaCards

    SFXN3 for disorders           About GeneDecksing

    Genetic Association Database (GAD): SFXN3
    Human Genome Epidemiology (HuGE) Navigator: SFXN3 (1 document)

    Export disorders for SFXN3 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 SFXN3 gene, integrated from 9 sources (see all 15):
    (articles sorted by number of sources associating them with SFXN3)
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    1. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. Drafting the CLN3 protein interactome in SH-SY5Y human neuroblastoma cells: a label-free quantitative proteomics approach. (PubMed id 23464991)1 Scifo E....Lalowski M. (2013)
    4. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    5. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    6. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    7. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    8. Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (2009)
    9. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (2008)
    10. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)

    (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)
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    Entrez Gene: 81855 HGNC: 16087 AceView: BA108L7.2 Ensembl:ENSG00000107819 euGenes: HUgn81855
    ECgene: SFXN3 H-InvDB: SFXN3

    (According to HUGE)
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      --

    (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 SFXN3 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 SFXN3 gene:
    Search GeneIP for patents involving SFXN3

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



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