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OXSM Gene

protein-coding   GIFtS: 62
GCID: GC03P025824

3-Oxoacyl-ACP Synthase, Mitochondrial

  See related diseases
at  

(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
3-Oxoacyl-ACP Synthase, Mitochondrial1 2     3-Oxoacyl-Acyl-Carrier-Protein Synthase2
Beta-Ketoacyl Synthase1 2     FASN2D2
Beta-Ketoacyl-ACP Synthase2 3     KASI2
EC 2.3.1.413 8     Acyl-Malonyl Acyl Carrier Protein-Condensing Enzyme2
KS2 5     Type II Mitochondrial Beta-Ketoacyl Synthase2
3-Ketoacyl-Acyl Carrier Protein Synthase2     EC 2.3.18
3-Oxoacyl-[Acyl-Carrier-Protein] Synthase, Mitochondrial2     

External Ids:    HGNC: 260631   Entrez Gene: 549952   Ensembl: ENSG000001510937   OMIM: 6103245   UniProtKB: Q9NWU13   
ORGUL members:         

Export aliases for OXSM gene to outside databases

Previous GC identifers: GC03P025808 GC03P025776


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for OXSM Gene:
This gene encodes a beta-ketoacyl synthetase. The encoded enzyme is required for elongation of fatty acid chains
in the mitochondria. Alternatively spliced transcript variants have been described.(provided by RefSeq, Feb 2009)

GeneCards Summary for OXSM Gene:
OXSM (3-oxoacyl-ACP synthase, mitochondrial) is a protein-coding gene. Diseases associated with OXSM include phaeohyphomycosis, and breast and colorectal cancer. GO annotations related to this gene include 3-oxoacyl-[acyl-carrier-protein] synthase activity. An important paralog of this gene is FASN.

UniProtKB/Swiss-Prot: OXSM_HUMAN, Q9NWU1
Function: May play a role in the biosynthesis of lipoic acid as well as longer chain fatty acids required for
optimal mitochondrial function




(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_000003.12  NT_022517.19  NC_018914.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the OXSM gene promoter:
         Sox5   NF-1   NF-1/L   NF-AT   FOXL1   Roaz   NF-AT2   FOXO4   c-Myb   NF-AT1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidOXSM promoter sequence
   Search Chromatin IP Primers for OXSM

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


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

Entrez Gene cytogenetic band: 3p24.2   Ensembl cytogenetic band:  3p24.2   HGNC cytogenetic band: 3p24.2

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

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P025824:  view genomic region     (about GC identifiers)

Start:
25,824,408 bp from pter      End:
25,836,025 bp from pter
Size:
11,618 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, 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, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: OXSM_HUMAN, Q9NWU1 (See protein sequence)
Recommended Name: 3-oxoacyl-[acyl-carrier-protein] synthase, mitochondrial precursor  
Size: 459 amino acids; 48843 Da
3 PDB 3D structures from and Proteopedia for OXSM:
2C9H (3D)        2IWY (3D)        2IWZ (3D)    
Alternative splicing: 2 isoforms:  Q9NWU1-1   Q9NWU1-2   

Explore the universe of human proteins at neXtProt for OXSM: NX_Q9NWU1

Explore proteomics data for OXSM at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for OXSM (Q9NWU1) (see all 5)
     NSFGFGG  PLSLAGF  GYGLSGDA  GHLLGAAGAVE 


    See OXSM Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001138863.1  NP_060367.1  

    ENSEMBL proteins: 
     ENSP00000392334   ENSP00000280701   ENSP00000404115   ENSP00000411303   ENSP00000409817  

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    OXSM Assay Products:

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    Cloud-Clone Corp. CLIAs for OXSM


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 6):
     IPR017568 3-oxoacyl-ACP_synth-2
     IPR016038 Thiolase-like_subgr
     IPR014031 Ketoacyl_synth_C
     IPR014030 Ketoacyl_synth_N
     IPR018201 Ketoacyl_synth_AS

    Graphical View of Domain Structure for InterPro Entry Q9NWU1

    ProtoNet protein and cluster: Q9NWU1

    2 Blocks protein domains:
    IPB000794 Beta-ketoacyl synthase
    IPB001209 Ribosomal protein S14


    UniProtKB/Swiss-Prot: OXSM_HUMAN, Q9NWU1
    Similarity: Belongs to the beta-ketoacyl-ACP synthases family


    OXSM 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,
    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: OXSM_HUMAN, Q9NWU1
    Function: May play a role in the biosynthesis of lipoic acid as well as longer chain fatty acids required for
    optimal mitochondrial function
    Catalytic activity: Acyl-[acyl-carrier-protein] + malonyl-[acyl-carrier-protein] =
    3-oxoacyl-[acyl-carrier-protein] + CO(2) + [acyl-carrier-protein]
    Enzyme regulation: Inhibited by cerulenin
    Biophysicochemical properties: Kinetic parameters: KM=3.9 uM for C4-[acyl-carrier-protein]; KM=1.9 uM for
    C6-[acyl-carrier-protein]; KM=10.9 uM for C8-[acyl-carrier-protein]; KM=1.8 uM for C10-[acyl-carrier-protein];
    KM=9.5 uM for C12-[acyl-carrier-protein]; KM=50.8 uM for C14-[acyl-carrier-protein]; Vmax=129 nmol/min/mg enzyme
    toward C4-[acyl-carrier-protein]; Vmax=241 nmol/min/mg enzyme toward C6-[acyl-carrier-protein]; Vmax=271
    nmol/min/mg enzyme toward C8-[acyl-carrier-protein]; Vmax=364 nmol/min/mg enzyme toward
    C10-[acyl-carrier-protein]; Vmax=1045 nmol/min/mg enzyme toward C12-[acyl-carrier-protein]; Vmax=115 nmol/min/mg
    enzyme toward C14-[acyl-carrier-protein]; Note=The highest catalytic efficiency is observed for C10-[acyl-
    carrier-protein];

         Enzyme Numbers (IUBMB): EC 2.3.1.411 2 EC 2.3.12

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:00043153-oxoacyl-[acyl-carrier-protein] synthase activity IDA15668256
    GO:0016740transferase activity ----
    GO:0016747transferase activity, transferring acyl groups other than amino-acyl groups ----
         
    OXSM for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for OXSM:
     Increased cell number in G2M,  

         1 MGI phenotypic allele for Oxsm (no phenotypes)

    OXSM for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for OXSM
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for OXSM
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for OXSM

    miRNA
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    GenScript: all cDNA clones in your preferred vector (see all 2): OXSM (NM_017897)
    Sino Biological Human cDNA Clone for OXSM
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for OXSM
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat OXSM

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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 UniProtKB/Swiss-Prot
    OXSM_HUMAN, Q9NWU1: Mitochondrion
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytosol3
    endoplasmic reticulum2

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005739mitochondrion IMP15668256

    OXSM for ontologies           About GeneDecksing


    (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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    SuperPaths for OXSM About    
    See pathways by source

    SuperPathContained pathways About
    1Fatty acid metabolism
    Fatty acid metabolism0.42
    Fatty acid biosynthesis0.00
    2palmitate biosynthesis I (animals)
    palmitate biosynthesis I (animals)
    fatty acid biosynthesis initiation II0.00
    3Metabolism
    Metabolic pathways0.38
    4Biotin metabolism
    Biotin metabolism

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for OXSM
        fatty acid biosynthesis initiation II
    palmitate biosynthesis I (animals)



    4 Kegg Pathways  (Kegg details for OXSM):
        Fatty acid biosynthesis
    Biotin metabolism
    Metabolic pathways
    Fatty acid metabolism

    UniProtKB/Swiss-Prot: OXSM_HUMAN, Q9NWU1
    Pathway: Lipid metabolism; fatty acid biosynthesis


    OXSM for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for OXSM
    Interactions:

        Search GeneGlobe Interaction Network for OXSM

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for OXSM (Q9NWU13 ENSP000002807014) via UniProtKB, MINT, STRING, and/or I2D (see all 111)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    PDHBP111773, ENSP000003072414I2D: score=1 STRING: ENSP00000307241
    PSAT1Q9Y6173, ENSP000003657734I2D: score=1 STRING: ENSP00000365773
    HSD17B4P516593, ENSP000002562164I2D: score=1 STRING: ENSP00000256216
    SLC25A38Q96DW63, ENSP000002731584I2D: score=1 STRING: ENSP00000273158
    LIASO437663, ENSP000002614344I2D: score=1 STRING: ENSP00000261434
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006633fatty acid biosynthetic process ----
    GO:0006637acyl-CoA metabolic process IDA15668256
    GO:0008152metabolic process ----
    GO:0051790short-chain fatty acid biosynthetic process IDA15668256
    GO:0051792medium-chain fatty acid biosynthetic process IDA15668256

    OXSM for ontologies           About GeneDecksing



    (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
       Enzo Life Sciences drugs & compounds for OXSM
      Browse compounds at ApexBio 

    Browse Tocris compounds for OXSM

    9 HMDB Compounds for OXSM    About this table
    CompoundSynonyms CAS #PubMed Ids
    (R)-3-Hydroxy-hexadecanoic acid ----
    3-Oxodecanoic acid ----
    3-Oxododecanoic acid3-Oxo-Dodecanoic acid (see all 4)----
    3-Oxohexadecanoic acid3-Oxo-hexadecanoic acid (see all 4)----
    3-Oxotetradecanoic acid3-Oxo-tetradecanoic acid (see all 4)----
    Acetyl-CoAS-Acetyl coenzyme A (see all 13)72-89-9--
    Carbon dioxideCarbon oxide (see all 5)124-38-9--
    Coenzyme AAcetoacetyl coenzyme A sodium salt (see all 21)85-61-0--
    Lipoic acid(+)-alpha-Lipoate (see all 92)1077-28-7--

    1 Novoseek inferred chemical compound relationship for OXSM gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    palmitate 56.7 6 9485400 (2)



    OXSM for compounds           About GeneDecksing



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for OXSM gene (2 alternative transcripts): 
    NM_001145391.1  NM_017897.2  

    Unigene Cluster for OXSM:

    3-oxoacyl-ACP synthase, mitochondrial
    Hs.55781  [show with all ESTs]
    Unigene Representative Sequence: AK000611
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000460195 ENST00000464688 ENST00000452098 ENST00000280701(uc010hfh.3 uc011awp.2 uc003cdn.3)
    ENST00000448177 ENST00000420173 ENST00000449808 ENST00000428266
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    Additional mRNA sequence: 

    AK000611.1 AK225260.1 AK304821.1 BC008202.1 NR_026937.1 

    4 DOTS entries:

    DT.112944  DT.95342720  DT.120928034  DT.100755080 

    Selected AceView cDNA sequences (see all 101):

    BC008202 BQ056153 CB152591 CR596080 CR591217 AA102091 BI754490 CB160171 
    BU182981 CB146534 CR626836 AK000611 BQ057854 NM_017897 AJ713949 CR620964 
    AL525389 AL556065 BQ428429 BI225264 AA149172 AA715137 AA651931 BM829121 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for OXSM    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b
    SP1:              -                           
    SP2:              -                           
    SP3:                                          
    SP4:                                          


    ECgene alternative splicing isoforms for OXSM

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


    OXSM expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Pancreas (Endocrine System)
             Islets of Langerhans
    OXSM Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    OXSM Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.55781

    UniProtKB/Swiss-Prot: OXSM_HUMAN, Q9NWU1
    Tissue specificity: Widely expressed. Higher expression in heart, skeletal muscle, liver and kidney which contain
    high levels of active mitochondria

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for OXSM

    (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 eukaryotes.

    Orthologs for OXSM gene from Selected species (see all 30)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Oxsm1 , 5 3-oxoacyl-ACP synthase, mitochondrial1, 5 83.55(n)1
    85.15(a)1
      14 (7.08 cM)5
    711471  NM_027695.31  NP_081971.11 
     162386565 
    chicken
    (Gallus gallus)
    Aves OXSM1 3-oxoacyl-ACP synthase, mitochondrial 73.16(n)
    74.18(a)
      420656  XM_418755.3  XP_418755.2 
    lizard
    (Anolis carolinensis)
    Reptilia OXSM6
    3-oxoacyl-ACP synthase, mitochondrial
    70(a)
    1 ↔ 1
    GL343380.1(684697-691802)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.127672 Xenopus laevis transcribed sequence with moderate similarity more 78.65(n)    BJ073170.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5646491 3-oxoacyl-[acyl-carrier-protein] synthase, mitochondrial-like 65.87(n)
    70.81(a)
      564649  XM_687977.7  XP_693069.5 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG121701 CG12170 55.58(n)
    55.42(a)
      40692  NM_141308.3  NP_649565.1 
    worm
    (Caenorhabditis elegans)
    Secernentea F10G8.96
    Protein F10G8.9, isoform a (F10G8.9) mRNA, complet...
    41(a)
    many ↔ many
    I(10048006-10050717) WBGene00008667
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes CEM1(YER061C)4
    CEM11
    Mitochondrial beta-keto-acyl synthase with possible more4
    CEM11
    50.08(n)1
    44.03(a)1
      5(279626-278298)4
    8567901, 4  NP_010983.21  NP_010983.14 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT2G045401 AT2G04540 55.05(n)
    52.98(a)
      814996  NM_126485.3  NP_178533.2 
    rice
    (Oryza sativa)
    Liliopsida Os.379672 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 71.79(n)    AK067275.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for OXSM gene
    FASN2  

    OXSM 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), 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 OXSM (see all 71)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0360644
    A breast cancer sample4--see VAR_0360642 F I mis40--------
    rs1385613601,2
    --25833814(+) CCTTCA/GTCAGA 3 -- int10--------
    rs1493009191,2
    --25833875(+) CAACAA/GGATTC 3 -- int10--------
    rs29320141,2
    C,F,H--25834170(+) gtttcG/Acttta 3 -- int114Minor allele frequency- A:0.11NA WA CSA EA 380
    rs1167720841,2
    F--25834175(+) ACTTTA/GTTTCC 3 -- int11Minor allele frequency- G:0.03WA 118
    rs119176671,2
    C,F,H--25834366(+) ACTCAG/CTTAAA 3 -- int110Minor allele frequency- C:0.03NS EA NA WA 1118
    rs20356951,2
    C,F,A,H--25834402(+) gtaatA/Gggaaa 3 -- int110Minor allele frequency- G:0.28NS EA NA 664
    rs1906791291,2
    --25834490(+) CAGCCA/GTAGAC 3 -- int10--------
    rs1814443021,2
    --25834503(+) TATGTA/GAATGT 3 -- int10--------
    rs1860780011,2
    --25834515(+) TGGGCA/GTGAAT 3 -- int10--------

    HapMap Linkage Disequilibrium report for OXSM (25824408 - 25836025 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for OXSM:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv71n17CNV Loss16327808
    nsv876633CNV Gain21882294

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

    (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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    OMIM gene information: 610324    OMIM disorders: --

    11 diseases for OXSM:    
    About MalaCards
    phaeohyphomycosis    breast and colorectal cancer    malaria    tonsillitis
    pneumonia    tuberculosis    cerebritis    colorectal cancer
    thyroiditis    endotheliitis    prostatitis

    2 diseases from the University of Copenhagen DISEASES database for OXSM:
    Phaeohyphomycosis     Malaria

    OXSM for disorders           About GeneDecksing

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

    Export disorders for OXSM 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)
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    PubMed articles for OXSM gene, integrated from 10 sources (see all 21):
    (articles sorted by number of sources associating them with OXSM)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning, expression, and characterization of the human mitochondrial beta-ketoacyl synthase. Complementation of the yeast CEM1 knock-out strain. (PubMed id 15668256)1, 2, 9 Zhang L.... Smith S. (J. Biol. Chem. 2005)
    2. 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)
    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. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    5. 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)
    6. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    7. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    8. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (J. Biol. Chem. 2011)
    9. Lysine acetylation targets protein complexes and co-regulates major cellular functions. (PubMed id 19608861)2 Choudhary C.... Mann M. (Science 2009)
    10. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (amp 2008)

    (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: 54995 HGNC: 26063 AceView: FLJ20604 Ensembl:ENSG00000151093 euGenes: HUgn54995
    ECgene: OXSM Kegg: 54995 H-InvDB: OXSM

    (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 OXSM 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 OXSM gene:
    Search GeneIP for patents involving OXSM

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



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