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SFXN1 Gene

protein-coding   GIFtS: 56
GCID: GC05P174838

Sideroflexin 1
  See related diseases
at
MalaCards
 

Aliases
for SFXN1 gene

(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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Aliases
Sideroflexin 11 2
Tricarboxylate Carrier Protein2 3
TCC2 3
sideroflexin-12

External Ids:    HGNC: 160851   Entrez Gene: 940812   Ensembl: ENSG000001644667   OMIM: 6155695   UniProtKB: Q9H9B43   

Export aliases for SFXN1 gene to outside databases

Previous GC identifers: GC05U990169 GC05P175644 GC05P174840 GC05P174886 GC05P170004


Summaries
for SFXN1 gene

(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 SFXN1 Gene:
SFXN1 (sideroflexin 1) is a protein-coding gene. Diseases associated with SFXN1 include neonatal anemia, and aceruloplasminemia. GO annotations related to this gene include cation transmembrane transporter activity. An important paralog of this gene is SFXN4.

UniProtKB/Swiss-Prot: SFXN1_HUMAN, Q9H9B4
Function: Might be involved in the transport of a component required for iron utilization into or out of the
mitochondria

Gene Wiki entry for SFXN1 Gene


Genomic Views
for SFXN1 gene

(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:
NC_000005.10  NT_023133.14  NC_018916.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SFXN1 gene promoter:
         TBP   GCNF   E4BP4   HNF-1A   AREB6   PPAR-gamma1   GCNF-1   TFIID   PPAR-gamma2   GCNF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: SFXN1 promoter sequence
   Search Chromatin IP Primers for SFXN1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SFXN1


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

Entrez Gene cytogenetic band: 5q35.3   Ensembl cytogenetic band:  5q35.2   HGNC cytogenetic band: 5q35.3

SFXN1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SFXN1 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P174838:  view genomic region     (about GC identifiers)

Start:
 174,904,065 bp from pter      End:
 174,956,745 bp from pter
Size:
 52,681 bases      Orientation:
 plus strand

Proteins
for SFXN1 gene

(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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: SFXN1_HUMAN, Q9H9B4 (See protein sequence)
Recommended Name: Sideroflexin-1  
Size: 322 amino acids; 35619 Da
Sequence caution: Sequence=AAH20517.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=BAB14003.1; Type=Miscellaneous discrepancy; Note=Cloning artifact; Sequence=BAB14318.1; Type=Erroneous
initiation; Note=Translation N-terminally extended;
Secondary accessions: B3KPW3 D3DQN2 Q9HA53

Explore the universe of human proteins at neXtProt for SFXN1: NX_Q9H9B4

Explore proteomics data for SFXN1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys72, Lys170
  • Modification sites at PhosphoSitePlus

    • See SFXN1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_073591.2  
    ENSEMBL proteins: 
     ENSP00000420961   ENSP00000316905   ENSP00000473710   ENSP00000421982   ENSP00000421467  
     ENSP00000424270  

    SFXN1 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for SFXN1
    OriGene Custom MassSpec
    OriGene Custom Protein Services for SFXN1
    GenScript Custom Purified and Recombinant Proteins Services for SFXN1
    Novus Biologicals SFXN1 Protein
    Novus Biologicals SFXN1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SFXN1

    SFXN1 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for SFXN1
    Novus Biologicals SFXN1 Antibodies
    Abcam antibodies for SFXN1
    Cloud-Clone Corp. Antibodies for SFXN1
    ThermoFisher Antibodies for SFXN1
    LSBio Antibodies in human, mouse, rat for SFXN1

    SFXN1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for SFXN1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for SFXN1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for SFXN1
    Cloud-Clone Corp. CLIAs for SFXN1

    Domains /
    Families
    for SFXN1 gene

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

    TryGeneCards Plus    		 HGNC Gene Families:
    SFXN: Sideroflexins

    1 InterPro protein domain:
     IPR004686 Mtc

    Graphical View of Domain Structure for InterPro Entry Q9H9B4

    ProtoNet protein and cluster: Q9H9B4

    1 Blocks protein domain: IPB004686 Tricarboxylate/iron carrier

    UniProtKB/Swiss-Prot: SFXN1_HUMAN, Q9H9B4
    Similarity: Belongs to the sideroflexin family


    SFXN1 for domains           About GeneDecksing


    Function
    for SFXN1 gene

    (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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SFXN1_HUMAN, Q9H9B4
    Function: Might be involved in the transport of a component required for iron utilization into or out of the
    mitochondria

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008324cation transmembrane transporter activity IEA--
         
    SFXN1 for ontologies           About GeneDecksing


    Phenotypes:
         1 MGI phenotypic allele for Sfxn1 (no phenotypes)

    SFXN1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SFXN1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SFXN1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SFXN1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SFXN1

    miRNA
    Products:            		miRTarBase miRNAs that target SFXN1:
    hsa-mir-92b-3p (MIRT040567), hsa-mir-31-5p (MIRT049905), hsa-mir-1 (MIRT001335), hsa-mir-16-5p (MIRT031779), hsa-mir-501-5p (MIRT041142), hsa-mir-421 (MIRT039440), hsa-mir-28-3p (MIRT038951), hsa-mir-21-5p (MIRT030923), hsa-mir-22-3p (MIRT050470)

    Block miRNA regulation of human, mouse, rat SFXN1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SFXN1 (see all 30):
    hsa-miR-30c hsa-miR-142-5p hsa-miR-3673 hsa-miR-562 hsa-miR-15a hsa-miR-503 hsa-miR-16-1* hsa-miR-30d
    SwitchGear 3'UTR luciferase reporter plasmid: SFXN1 3' UTR sequence
    Inhib. RNA
    Products:            		OriGene RNAi products in human, mouse, rat for SFXN1
    Predesigned siRNA for gene silencing in human, mouse, rat SFXN1

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for SFXN1

    Clone
    Products:             		 OriGene clones in human, mouse for SFXN1 (see all 7)
    OriGene ORF clones in mouse, rat for SFXN1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: SFXN1 (NM_022754)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SFXN1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SFXN1

    Cell Line
    Products:             		GenScript Custom overexpressing Cell Line Services for SFXN1
    Browse ESI BIO Cell Lines and PureStem Progenitors for SFXN1 
    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SFXN1


    Localization
    for SFXN1 gene

    (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 UniProtKB/Swiss-Prot
    SFXN1_HUMAN, Q9H9B4: Mitochondrion membrane; Multi-pass membrane protein (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytosol2
    peroxisome2
    golgi apparatus1
    nucleus1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion ----
    GO:0005743mitochondrial inner membrane IEA--
    GO:0016020membrane ----
    GO:0016021integral component of membrane IEA--

    SFXN1 for ontologies           About GeneDecksing


    Pathways & Interactions
    for SFXN1 gene

    (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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        Pathway & Disease-focused RT2 Profiler PCR Array including SFXN1: 
              Hematopoiesis in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for SFXN1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    Selected Interacting proteins for SFXN1 (Q9H9B41, 2, 3 ENSP000003169054) via UniProtKB, MINT, STRING, and/or I2D (see all 267)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    IKBKGQ9Y6K92, 3, ENSP000003586224MINT-48148 I2D: score=2 STRING: ENSP00000358622
    TSC22D1Q157141, 3EBI-355861,EBI-712609 I2D: score=2 
    PGRMC1O002641, 3, ENSP000002179714EBI-355861,EBI-1045534 I2D: score=2 STRING: ENSP00000217971
    ICT1Q141972, 3, ENSP000003015854MINT-8079030 I2D: score=1 STRING: ENSP00000301585
    UBA5Q9GZZ93, ENSP000003485654I2D: score=3 STRING: ENSP00000348565
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006812cation transport ----
    GO:0006826iron ion transport IEA--
    GO:0030218erythrocyte differentiation IEA--
    GO:0055072iron ion homeostasis IEA--
    GO:0055085transmembrane transport ----

    SFXN1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for SFXN1 gene

    (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 SFXN1

    1 HMDB Compound for SFXN1    About this table
    CompoundSynonyms CAS #PubMed Ids
    IronArmco iron (see all 19)7439-89-6--



    Transcripts
    for SFXN1 gene

    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for SFXN1 gene: 
    NM_022754.5  

    Unigene Cluster for SFXN1:

    Sideroflexin 1
    Hs.369440  [show with all ESTs]
    Unigene Representative Sequence: NM_022754
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000507017 ENST00000321442(uc003mda.2) ENST00000508290 ENST00000507395
    ENST00000515791 ENST00000502393 ENST00000507823(uc003mdb.1) ENST00000513725
    ENST00000506963 ENST00000502865 ENST00000515736 ENST00000421887
    miRNA
    Products:             		 Block miRNA regulation of human, mouse, rat SFXN1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SFXN1 (see all 30):
    hsa-miR-30c hsa-miR-142-5p hsa-miR-3673 hsa-miR-562 hsa-miR-15a hsa-miR-503 hsa-miR-16-1* hsa-miR-30d
    SwitchGear 3'UTR luciferase reporter plasmid: SFXN1 3' UTR sequence
    Inhib. RNA
    Products:             		OriGene RNAi products in human, mouse, rat for SFXN1
    Predesigned siRNA for gene silencing in human, mouse, rat SFXN1
    Clone
    Products:             		 OriGene clones in human, mouse for SFXN1 (see all 7)
    OriGene ORF clones in mouse, rat for SFXN1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: SFXN1 (NM_022754)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SFXN1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SFXN1
    Primer
    Products:            		OriGene qPCR primer pairs and template standards for SFXN1
    OriGene qSTAR qPCR primer pairs in human, mouse for SFXN1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SFXN1
      QuantiTect SYBR Green Assays in human, mouse, rat SFXN1
      QuantiFast Probe-based Assays in human, mouse, rat SFXN1

    Additional mRNA sequence: 

    AK022287.1 AK022938.1 AK025032.1 AK056915.1 BC020517.1 BC063241.1 BX648188.1 

    14 DOTS entries:

    DT.413038  DT.40257647  DT.100047356  DT.91918185  DT.91749122  DT.100792319  DT.100808897  DT.102830359 
    DT.91643054  DT.120806935  DT.120806967  DT.65287012  DT.91992105  DT.97771092 

    Selected AceView cDNA sequences (see all 211):

    BM928783 BE741335 BG577423 BQ225449 CA489784 BX369174 BQ421555 BQ021494 
    BE550926 BQ694361 BU956596 AI014241 BQ216550 BG235896 AW502257 BX951549 
    AW779957 F11510 CA865759 BC020517 BQ214896 BP363027 AW614734 CR599132 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SFXN1 (see all 7)    About this scheme

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


    ECgene alternative splicing isoforms for SFXN1

    Expression
    for SFXN1 gene

    (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)
    About This Section

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    SFXN1 expression in normal human tissues (normalized intensities)      SFXN1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAGTGTAGAT
    SFXN1 Expression
    About this image


    SFXN1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Liver (Hepatobiliary System)
             Periportal Hepatocytes Liver Lobule
     
     Neurons
             Mature Horizontal Cells Inner Nuclear Layer
     
     Eye (Sensory Organs)
             Mature Horizontal Cells Inner Nuclear Layer
    SFXN1 Protein expression data from MOPED1, PaxDb2 and MaxQB3:     About this image

    SFXN1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.369440
        Pathway & Disease-focused RT2 Profiler PCR Array including SFXN1: 
              Hematopoiesis in human mouse rat

    Primer
    Products:    		OriGene qPCR primer pairs and template standards for SFXN1
    OriGene qSTAR qPCR primer pairs in human, mouse for SFXN1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SFXN1
    QuantiTect SYBR Green Assays in human, mouse, rat SFXN1
    QuantiFast Probe-based Assays in human, mouse, rat SFXN1
    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SFXN1

    Orthologs
    for SFXN1 gene

    (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

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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for SFXN1 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Sfxn11 , 5 sideroflexin 11, 5 84.58(n)1
    94.72(a)1    		   13 (28.40 cM)5
    140571  NM_027324.51  NP_081600.11 
     540718455 
    chicken
    (Gallus gallus)    		 Aves SFXN11 sideroflexin 1 81.37(n)
    90.99(a)    		   416221  NM_001277743.1  NP_001264672.1 
    lizard
    (Anolis carolinensis)    		 Reptilia SFXN16
    		 sideroflexin 1
    		 81(a)
    		 1 ↔ 1
    		 2(137172283-137205488)
    African clawed frog
    (Xenopus laevis)    		 Amphibia xm278-prov2 sideroflexin 1 75(n)    BC044027.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii sfxn11 sideroflexin 1 75.05(n)
    84.16(a)    		   445143  NM_001003537.2  NP_001003537.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta CG117391 CG11739 55.38(n)
    55.38(a)    		   40552  NM_141203.4  NP_649460.3 
    worm
    (Caenorhabditis elegans)    		 Secernentea sfxn-1.51 sfxn-1.5 58.01(n)
    55.13(a)    		   181353  NM_077548.4  NP_509949.1 
    baker's yeast
    (Saccharomyces cerevisiae)    		 Saccharomycetes FSF16
    		 Putative protein, predicted to be an alpha-isoprop...
    		 37(a)
    		 1 → many
    		 XV(831059-832042) YOR271C


    ENSEMBL Gene Tree for SFXN1 (if available)
    TreeFam Gene Tree for SFXN1 (if available)

    Paralogs
    for SFXN1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SFXN1 gene
    SFXN42  SFXN52  SFXN22  SFXN32  
    3 SIMAP similar genes for SFXN1 using alignment to 6 protein entries:     SFXN1_HUMAN (see all proteins):
    SFXN3    SFXN2    SFXN5

    SFXN1 for paralogs           About GeneDecksing



    Genomic Variants
    for SFXN1 gene

    (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)
    About This Section

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    Selected SNPs for SFXN1 (see all 1344)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 5 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1176756801,2
    		C,F--174903547(+) GGAGCG/AGAGCC 1 -- us2k11Minor allele frequency- A:0.03EA 120
    rs1141754571,2
    		F--174903644(+) TGACCA/TTAGAC 1 -- us2k11Minor allele frequency- T:0.01WA 118
    rs1439232631,2
    		--174903728(+) ACTAAA/TTGTTT 1 -- us2k10--------
    rs2673491,2
    		C,F,A,H--174903767(-) CTATAT/AGACAA 1 -- us2k129Minor allele frequency- A:0.48NS EA NA WA CSA 2669
    rs1135902981,2
    		C,F--174903779(+) ATTACT/CGTGGC 1 -- us2k12Minor allele frequency- C:0.03CSA WA 120
    rs1807412231,2
    		--174903976(+) TTGCTC/TACAAG 1 -- us2k10--------
    rs1162640371,2
    		F--174904080(+) CACCTA/GGGTTG 1 -- us2k11Minor allele frequency- G:0.03WA 118
    rs1866526761,2
    		--174904110(+) CAGCCA/GACTGC 1 -- us2k10--------
    rs1506313071,2
    		--174904180(+) CATACA/GCCACC 1 -- us2k10--------
    rs584980061,2
    		C--174904278(+) CACTCC/TGGCCT 1 -- us2k12Minor allele frequency- T:0.19WA 120

    HapMap Linkage Disequilibrium report for SFXN1 (174904065 - 174956745 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for SFXN1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv469707CNV Loss16826518

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SFXN1
    DNA2.0 Custom Variant and Variant Library Synthesis for SFXN1

    Disorders / Diseases
    for SFXN1 gene

    (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

    TryGeneCards Plus    		 OMIM gene information: 615569    OMIM disorders: --

    5 diseases for SFXN1:    About MalaCards
    neonatal anemia    aceruloplasminemia    sideroblastic anemia    neuroblastoma
    malaria

    1 disease from the University of Copenhagen DISEASES database for SFXN1:
    Aceruloplasminemia

    SFXN1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): SFXN1
    Human Genome Epidemiology (HuGE) Navigator: SFXN1 (1 document)

    Export disorders for SFXN1 gene to outside databases

    Publications
    for SFXN1 gene

    (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

    TryGeneCards Plus
    PubMed articles for SFXN1 gene, integrated from 10 sources (see all 39):
    (articles sorted by number of sources associating them with SFXN1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    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. (Genome Res. 2004)
    4. 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. (J. Proteome Res. 2013)
    5. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    6. PKCI/ promotes oncogenic functions of ATF2 in the nucleus while blocking its apoptotic function at mitochondria. (PubMed id 22304920)1 Lau E....Ronai Z.A. (Cell 2012)
    7. 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)
    8. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    9. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    10. Nuclear import of histone deacetylase 5 by requisite nuclear localization signal phosphorylation. (PubMed id 21081666)1 Greco T.M....Cristea I.M. (amp 2011)

    External Searches for SFXN1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing SFXN1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 94081 HGNC: 16085 AceView: SFXN1 Ensembl:ENSG00000164466 euGenes: HUgn94081
    ECgene: SFXN1 H-InvDB: SFXN1

    Other Databases showing SFXN1 gene

    (According to HUGE)
    About This Section

    TryGeneCards Plus    		   --

    Specialized Databases showing SFXN1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for SFXN1 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for SFXN1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus    		Patent Information for SFXN1 gene:
    Search GeneIP for patents involving SFXN1

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



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    About This Section

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