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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 56
  • 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 56
  • 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 Metabolism. Gene Ontology (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.

Additional gene information for OXSM Gene

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

GeneHancer (GH) Regulatory Elements for OXSM Gene

Promoters and enhancers for OXSM Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03I025788 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 550.4 +6.9 6940 2.7 HDGF PKNOX1 FOXA2 SMAD1 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 GC03M025809 GC03M025815 PIR40434 NGLY1 PIR57823 OXSM LINC00692
GH03I025780 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 555.1 -0.4 -362 3.8 HDGF PKNOX1 ARID4B SIN3A IRF4 YY1 SLC30A9 POLR2B SP3 JUNB OXSM NGLY1 GC03M025805 GC03M025816 PIR47937
GH03I025723 Enhancer 0.7 ENCODE 15.8 -57.9 -57859 2.5 PKNOX1 BMI1 CTBP1 ZNF316 GATA3 FOS FOSL2 RUNX3 SMARCE1 RFX1 OXSM NGLY1 GC03M025722 PIR50853
GH03I025820 Enhancer 0.9 Ensembl ENCODE 11.6 +37.7 37718 1.2 USF1 SMAD1 NFIB BACH1 LCORL ZNF316 ZNF350 NFE2 FOS MAFK NGLY1 OXSM GC03P025816 LOC105377000
GH03I025854 Enhancer 0.6 ENCODE 11 +71.7 71708 0.2 GATAD2B DPF2 FOXA1 SP1 ZNF217 CTBP1 MAFF GATA3 NFE2 FOS NGLY1 OXSM LINC00692 LOC105377000
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around OXSM on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the OXSM gene promoter:

Genomic Locations for OXSM Gene

Genomic Locations for OXSM Gene
chr3:25,782,917-25,794,534
(GRCh38/hg38)
Size:
11,618 bases
Orientation:
Plus strand
chr3:25,824,408-25,836,025
(GRCh37/hg19)

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

No Post-translational modifications

Domains & Families for OXSM Gene

Gene Families for OXSM Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

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

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

Clone Products

  • Addgene plasmids for OXSM

No data available for Phenotypes From GWAS Catalog , 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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (3)
  • Cytosol (1)
See all subcellular structures

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

(3) Drugs for OXSM Gene - From: HMDB

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

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(R)-3-Hydroxy-hexadecanoic acid
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
3-Oxotetradecanoic acid
  • 3-Oxo-tetradecanoate
  • 3-Oxo-tetradecanoic acid
  • 3-Oxotetradecanoate
  • 3-Oxotetradecanoic 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:

Clone Products

  • Addgene plasmids for OXSM

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

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 33 34
  • 99.78 (n)
dog
(Canis familiaris)
Mammalia OXSM 33 34
  • 91.12 (n)
rat
(Rattus norvegicus)
Mammalia Oxsm 33
  • 83.96 (n)
mouse
(Mus musculus)
Mammalia Oxsm 33 16 34
  • 83.55 (n)
cow
(Bos Taurus)
Mammalia OXSM 33 34
  • 80.46 (n)
oppossum
(Monodelphis domestica)
Mammalia OXSM 34
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 7 (a)
ManyToMany
chicken
(Gallus gallus)
Aves OXSM 33 34
  • 73.16 (n)
lizard
(Anolis carolinensis)
Reptilia OXSM 34
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia oxsm 33
  • 70.9 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.12767 33
zebrafish
(Danio rerio)
Actinopterygii OXSM 34
  • 66 (a)
OneToOne
LOC564649 33
  • 65.87 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG12170 33 34
  • 55.58 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002809 33
  • 54.03 (n)
worm
(Caenorhabditis elegans)
Secernentea F10G8.9 34
  • 41 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CEM1 33 34 36
  • 50.08 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADL072C 33
  • 48.18 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C08239g 33
  • 47.26 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G04540 33
  • 55.05 (n)
rice
(Oryza sativa)
Liliopsida Os02g0196900 33
  • 60.14 (n)
Os.37967 33
wheat
(Triticum aestivum)
Liliopsida Ta.1178 33
corn
(Zea mays)
Liliopsida Zm.7885 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 59 (a)
OneToOne
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC887.13c 33
  • 55.02 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU00056 33
  • 54.8 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.12046 33
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 Variation AA Info Type
rs142425326 benign, Congenital disorder of deglycosylation 25,783,268(+) G/A upstream_transcript_variant
VAR_036064 A breast cancer sample p.Phe106Ile
rs376008228 likely-benign, not specified 25,783,433(+) C/A/G upstream_transcript_variant
rs377289212 likely-benign, not specified 25,783,249(+) T/C upstream_transcript_variant
rs1488996 benign, not specified 25,783,398(+) C/G/T upstream_transcript_variant

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

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

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)

Additional Variant Information 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

Additional Disease Information for OXSM

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

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 (The Journal of biological chemistry 2005) 3 4 22 58
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 58

Products for OXSM Gene

Sources for OXSM Gene

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