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Aliases for OXSM Gene

Aliases for OXSM Gene

  • 3-Oxoacyl-ACP Synthase, Mitochondrial 2 3 5
  • Beta-Ketoacyl-ACP Synthase 3 4
  • Beta-Ketoacyl Synthase 2 3
  • EC 2.3.1.41 4 61
  • 3-Oxoacyl-[Acyl-Carrier-Protein] Synthase, Mitochondrial 3
  • Acyl-Malonyl Acyl Carrier Protein-Condensing Enzyme 3
  • Type II Mitochondrial Beta-Ketoacyl Synthase 3
  • 3-Ketoacyl-Acyl Carrier Protein Synthase 3
  • 3-Oxoacyl-Acyl-Carrier-Protein Synthase 3
  • EC 2.3.1 61
  • FASN2D 3
  • CEM1 3
  • KASI 3
  • KS 3

External Ids for OXSM Gene

Previous GeneCards Identifiers for OXSM Gene

  • GC03P025808
  • GC03P025776
  • GC03P025824

Summaries for OXSM Gene

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. Among its related pathways are Fatty acid biosynthesis (KEGG) and Fatty acid metabolism. GO annotations related to this gene include transferase activity and 3-oxoacyl-[acyl-carrier-protein] synthase activity. An important paralog of this gene is FASN.

UniProtKB/Swiss-Prot for OXSM Gene

  • May play a role in the biosynthesis of lipoic acid as well as longer chain fatty acids required for optimal mitochondrial function.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for OXSM Gene

Genomics for OXSM Gene

Regulatory Elements for OXSM Gene

Enhancers for OXSM Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03G025723 0.7 ENCODE 15.8 -57.9 -57859 2.5 PKNOX1 RFX1 CHD1 MNT DPF2 BMI1 CTBP1 GATA3 ZNF316 CREB1 OXSM NGLY1 GC03M025722 PIR50853
GH03G025820 0.9 Ensembl ENCODE 11.6 +37.7 37718 1.2 NFIB BHLHE40 MAFG ZNF316 MAFF NFIC ZNF350 HMBOX1 FOS NFE2 NGLY1 OXSM GC03P025816 LOC105377000
GH03G025854 0.7 ENCODE 11 +71.7 71708 0.2 DPF2 FOXA1 ZNF217 CTBP1 GATA3 MAFF GATA2 FOSL2 FOS NFE2 NGLY1 OXSM LINC00692 LOC105377000
GH03G025780 1.1 ENCODE 5 -0.4 -363 3.8 HDGF PKNOX1 CREB3L1 ARNT ARID4B SIN3A YY1 SLC30A9 CBX5 ZNF263 OXSM GC03M025799 PIR47937
GH03G025749 0.7 FANTOM5 4.8 -33.7 -33660 0.4 HDGF SP3 MXI1 ATF1 TAF1 SIN3A DMAP1 ZNF335 FOSL1 ZGPAT OXSM RPL32P11 PIR50853
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around OXSM on UCSC Golden Path with GeneCards custom track

Promoters for OXSM Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000149936 483 2001 HDGF PKNOX1 CREB3L1 ARID4B SIN3A YY1 SLC30A9 ZNF263 SP3 MXD4

Genomic Location for OXSM Gene

Chromosome:
3
Start:
25,782,917 bp from pter
End:
25,794,534 bp from pter
Size:
11,618 bases
Orientation:
Plus strand

Genomic View for OXSM Gene

Genes around OXSM on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
OXSM Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for OXSM Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for OXSM Gene

Proteins for OXSM Gene

  • Protein details for OXSM Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NWU1-OXSM_HUMAN
    Recommended name:
    3-oxoacyl-[acyl-carrier-protein] synthase, mitochondrial
    Protein Accession:
    Q9NWU1

    Protein attributes for OXSM Gene

    Size:
    459 amino acids
    Molecular mass:
    48843 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for OXSM Gene

    Alternative splice isoforms for OXSM Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for OXSM Gene

Selected DME Specific Peptides for OXSM Gene

Q9NWU1:
  • GHLLGAAGAVE
  • GFVMGEGAAVLVLE
  • PLSLAGF
  • GYGLSGDA
  • NSFGFGG

Post-translational modifications for OXSM Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for OXSM Gene

Graphical View of Domain Structure for InterPro Entry

Q9NWU1

UniProtKB/Swiss-Prot:

OXSM_HUMAN :
  • Belongs to the beta-ketoacyl-ACP synthases family.
Family:
  • Belongs to the beta-ketoacyl-ACP synthases family.
genes like me logo Genes that share domains with OXSM: view

No data available for Gene Families for OXSM Gene

Function for OXSM Gene

Molecular function for OXSM Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=3.9 uM for C4-[acyl-carrier-protein] {ECO:0000269 PubMed:15668256}; KM=1.9 uM for C6-[acyl-carrier-protein] {ECO:0000269 PubMed:15668256}; KM=10.9 uM for C8-[acyl-carrier-protein] {ECO:0000269 PubMed:15668256}; KM=1.8 uM for C10-[acyl-carrier-protein] {ECO:0000269 PubMed:15668256}; KM=9.5 uM for C12-[acyl-carrier-protein] {ECO:0000269 PubMed:15668256}; KM=50.8 uM for C14-[acyl-carrier-protein] {ECO:0000269 PubMed:15668256}; Vmax=129 nmol/min/mg enzyme toward C4-[acyl-carrier-protein] {ECO:0000269 PubMed:15668256}; Vmax=241 nmol/min/mg enzyme toward C6-[acyl-carrier-protein] {ECO:0000269 PubMed:15668256}; Vmax=271 nmol/min/mg enzyme toward C8-[acyl-carrier-protein] {ECO:0000269 PubMed:15668256}; Vmax=364 nmol/min/mg enzyme toward C10-[acyl-carrier-protein] {ECO:0000269 PubMed:15668256}; Vmax=1045 nmol/min/mg enzyme toward C12-[acyl-carrier-protein] {ECO:0000269 PubMed:15668256}; Vmax=115 nmol/min/mg enzyme toward C14-[acyl-carrier-protein] {ECO:0000269 PubMed:15668256}; Note=The highest catalytic efficiency is observed for C10-[acyl- carrier-protein].;
UniProtKB/Swiss-Prot CatalyticActivity:
Acyl-[acyl-carrier-protein] + malonyl-[acyl-carrier-protein] = 3-oxoacyl-[acyl-carrier-protein] + CO(2) + [acyl-carrier-protein].
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by cerulenin.
UniProtKB/Swiss-Prot Function:
May play a role in the biosynthesis of lipoic acid as well as longer chain fatty acids required for optimal mitochondrial function.

Enzyme Numbers (IUBMB) for OXSM Gene

Gene Ontology (GO) - Molecular Function for OXSM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004315 3-oxoacyl-[acyl-carrier-protein] synthase activity IDA 15668256
GO:0016740 transferase activity IEA --
GO:0016746 transferase activity, transferring acyl groups IEA --
GO:0016747 transferase activity, transferring acyl groups other than amino-acyl groups IEA --
genes like me logo Genes that share ontologies with OXSM: view
genes like me logo Genes that share phenotypes with OXSM: view

Animal Model Products

  • Taconic Biosciences Mouse Models for OXSM

Inhibitory RNA Products

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for OXSM Gene

Localization for OXSM Gene

Subcellular locations from UniProtKB/Swiss-Prot for OXSM Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for OXSM gene
Compartment Confidence
mitochondrion 5
cytosol 5
endoplasmic reticulum 2

Gene Ontology (GO) - Cellular Components for OXSM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IMP 15668256
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with OXSM: view

Pathways & Interactions for OXSM Gene

genes like me logo Genes that share pathways with OXSM: view

Pathways by source for OXSM Gene

1 BioSystems pathway for OXSM Gene

UniProtKB/Swiss-Prot Q9NWU1-OXSM_HUMAN

  • Pathway: Lipid metabolism; fatty acid biosynthesis.

Gene Ontology (GO) - Biological Process for OXSM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006631 fatty acid metabolic process IEA --
GO:0006633 fatty acid biosynthetic process IEA --
GO:0006637 acyl-CoA metabolic process IDA 15668256
GO:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with OXSM: view

No data available for SIGNOR curated interactions for OXSM Gene

Drugs & Compounds for OXSM Gene

(2) Drugs for OXSM Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Carbon dioxide Approved, Vet_approved Pharma 0
Coenzyme A Nutra 0

(8) Additional Compounds for OXSM Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(R)-3-Hydroxy-hexadecanoic acid
(R)-lipoic acid
  • (+)-alpha-Lipoic acid
  • (R)-(+)-lipoic acid
  • (R)-1,2-Dithiolane-3-pentanoic acid
  • (R)-1,2-dithiolane-3-valeric acid
  • (R)-6,8-thioctic acid
1200-22-2
3-Oxodecanoic acid
3-Oxododecanoic acid
  • 3-Oxo-Dodecanoate
  • 3-Oxo-Dodecanoic acid
  • 3-Oxododecanoate
  • 3-Oxododecanoic acid
3-Oxohexadecanoic acid
  • 3-Oxo-hexadecanoate
  • 3-Oxo-hexadecanoic acid
  • 3-Oxohexadecanoate
  • 3-Oxohexadecanoic acid
genes like me logo Genes that share compounds with OXSM: view

Transcripts for OXSM Gene

Unigene Clusters for OXSM Gene

3-oxoacyl-ACP synthase, mitochondrial:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for OXSM Gene

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

Relevant External Links for OXSM Gene

GeneLoc Exon Structure for
OXSM
ECgene alternative splicing isoforms for
OXSM

Expression for OXSM Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for OXSM Gene

Protein differential expression in normal tissues from HIPED for OXSM Gene

This gene is overexpressed in Peripheral blood mononuclear cells (9.4), Salivary gland (9.1), and Stomach (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for OXSM Gene



Protein tissue co-expression partners for OXSM Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of OXSM Gene:

OXSM

SOURCE GeneReport for Unigene cluster for OXSM Gene:

Hs.55781

mRNA Expression by UniProt/SwissProt for OXSM Gene:

Q9NWU1-OXSM_HUMAN
Tissue specificity: Widely expressed. Higher expression in heart, skeletal muscle, liver and kidney which contain high levels of active mitochondria.
genes like me logo Genes that share expression patterns with OXSM: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for OXSM Gene

Orthologs for OXSM Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for OXSM Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia OXSM 34 35
  • 99.78 (n)
dog
(Canis familiaris)
Mammalia OXSM 34 35
  • 91.12 (n)
rat
(Rattus norvegicus)
Mammalia Oxsm 34
  • 83.96 (n)
mouse
(Mus musculus)
Mammalia Oxsm 34 16 35
  • 83.55 (n)
cow
(Bos Taurus)
Mammalia OXSM 34 35
  • 80.46 (n)
oppossum
(Monodelphis domestica)
Mammalia OXSM 35
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 7 (a)
ManyToMany
chicken
(Gallus gallus)
Aves OXSM 34 35
  • 73.16 (n)
lizard
(Anolis carolinensis)
Reptilia OXSM 35
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia oxsm 34
  • 70.9 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.12767 34
zebrafish
(Danio rerio)
Actinopterygii OXSM 35
  • 66 (a)
OneToOne
LOC564649 34
  • 65.87 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG12170 34 35
  • 55.58 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002809 34
  • 54.03 (n)
worm
(Caenorhabditis elegans)
Secernentea F10G8.9 35
  • 41 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CEM1 34 35 37
  • 50.08 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADL072C 34
  • 48.18 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C08239g 34
  • 47.26 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G04540 34
  • 55.05 (n)
rice
(Oryza sativa)
Liliopsida Os02g0196900 34
  • 60.14 (n)
Os.37967 34
wheat
(Triticum aestivum)
Liliopsida Ta.1178 34
corn
(Zea mays)
Liliopsida Zm.7885 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 59 (a)
OneToOne
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC887.13c 34
  • 55.02 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU00056 34
  • 54.8 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.12046 34
Species where no ortholog for OXSM was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for OXSM Gene

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

Paralogs for OXSM Gene

Paralogs for OXSM Gene

genes like me logo Genes that share paralogs with OXSM: view

Variants for OXSM Gene

Sequence variations from dbSNP and Humsavar for OXSM Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
VAR_036064 A breast cancer sample
rs1488996 Benign 25,783,398(+) TTGAG(C/T)GCCAG intron-variant, nc-transcript-variant, upstream-variant-2KB, utr-variant-5-prime
rs1000069284 -- 25,793,271(+) TTACA(A/G)GTGTG intron-variant
rs1000076449 -- 25,786,604(+) GAGAC(C/G)AAGTC intron-variant, utr-variant-5-prime
rs1000290296 -- 25,789,420(+) TTGTA(A/C/G/T)AAAAG intron-variant, upstream-variant-2KB, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for OXSM Gene

Variant ID Type Subtype PubMed ID
dgv71n17 CNV loss 16327808
esv2763742 CNV gain 21179565
esv3893676 CNV loss 25118596

Variation tolerance for OXSM Gene

Residual Variation Intolerance Score: 11.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.42; 63.84% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for OXSM Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
OXSM

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for OXSM Gene

Disorders for OXSM Gene

Relevant External Links for OXSM

Genetic Association Database (GAD)
OXSM
Human Genome Epidemiology (HuGE) Navigator
OXSM
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
OXSM

No disorders were found for OXSM Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for OXSM Gene

Publications for OXSM Gene

  1. Cloning, expression, and characterization of the human mitochondrial beta-ketoacyl synthase. Complementation of the yeast CEM1 knock-out strain. (PMID: 15668256) Zhang L. … Smith S. (J. Biol. Chem. 2005) 3 4 22 64
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 3 64

Products for OXSM Gene

Sources for OXSM Gene

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