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] See more...

Aliases for OXSM Gene

Aliases for OXSM Gene

  • 3-Oxoacyl-ACP Synthase, Mitochondrial 2 3 5
  • 3-Oxoacyl-[Acyl-Carrier-Protein] Synthase, Mitochondrial 3 4
  • Beta-Ketoacyl-ACP Synthase 3 4
  • Beta-Ketoacyl Synthase 2 3
  • EC 2.3.1.41 4 51
  • FASN2D 2 3
  • CEM1 2 3
  • KS 2 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
  • FLJ20604 2
  • EC 2.3.1 51
  • KASI 3
  • OXSM 5

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. Diseases associated with OXSM include Fanconi Anemia, Complementation Group D2. Among its related pathways are Fatty acid biosynthesis (KEGG) and palmitate biosynthesis. 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 Summary 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 , Rfam classification and piRNA Summary for OXSM Gene

Genomics for OXSM Gene

GeneHancer (GH) Regulatory Elements Pubs

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
GH03J025788 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 600.4 +7.0 7029 2.9 CREB1 GATAD2A PRDM10 ZNF629 ZNF512 SOX13 IKZF1 NFKBIZ POLR2A BACH1 NGLY1 OXSM LINC00692 lnc-TOP2B-6
GH03J025780 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 604.9 -0.2 -191 4.2 RNF2 CEBPG SP1 HNRNPL PRDM10 REST NFKBIZ POLR2A BACH1 STAT3 OXSM lnc-TOP2B-6 NGLY1 piR-57133-415 TOP2B
GH03J025723 Enhancer 0.8 Ensembl ENCODE 15.8 -57.9 -57859 2.5 CREB1 FOXA1 RFX1 RUNX3 BMI1 ESR1 CTBP1 ZNF316 PKNOX1 CHD1 OXSM NGLY1 lnc-NGLY1-2 lnc-RARB-2 TOP2B
GH03J025820 Enhancer 0.8 Ensembl ENCODE 11.6 +38.1 38108 2 ZNF512 HMBOX1 CEBPB NFE2 ZNF316 MAFF USF1 FOS MAFK MAFG NGLY1 OXSM HSALNG0024752 LRRC3B
GH03J025854 Enhancer 0.8 Ensembl ENCODE 11 +71.8 71783 1.8 SP1 ESR1 CTBP1 NFE2 FOS ZNF217 MAFK GATAD2B EHMT2 DPF2 TOP2B NGLY1 OXSM piR-32559-279 piR-31470-323 LRRC3B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around OXSM on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for OXSM

Top Transcription factor binding sites by QIAGEN in the OXSM gene promoter:
  • c-Myb
  • FOXL1
  • FOXO4
  • NF-1
  • NF-1/L
  • NF-AT
  • NF-AT1
  • NF-AT2
  • Roaz
  • Sox5

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)
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

Gene Families for OXSM Gene

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

Protein Domains for OXSM Gene

Suggested Antigen Peptide Sequences for OXSM Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ52134, highly similar to 3-oxoacyl-[acyl-carrier-protein] synthase, mitochondrial (EC 2.3.1.41) (B4E3Q7_HUMAN)
  • Beta-ketoacyl-ACP synthase (OXSM_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NWU1

UniProtKB/Swiss-Prot:

OXSM_HUMAN :
  • Belongs to the thiolase-like superfamily. Beta-ketoacyl-ACP synthases family.
Family:
  • Belongs to the thiolase-like superfamily. 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 Function:
May play a role in the biosynthesis of lipoic acid as well as longer chain fatty acids required for optimal mitochondrial function.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a fatty acyl-[ACP] + H(+) + malonyl-[ACP] = a 3-oxoacyl-[ACP] + CO2 + holo-[ACP]; Xref=Rhea:RHEA:22836, Rhea:RHEA-COMP:9623, Rhea:RHEA-COMP:9685, Rhea:RHEA-COMP:9916, Rhea:RHEA-COMP:14125, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:64479, ChEBI:CHEBI:78449, ChEBI:CHEBI:78776, ChEBI:CHEBI:138651; EC=2.3.1.41; Evidence={ECO:0000269|PubMed:15668256};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=butanoyl-[ACP] + H(+) + malonyl-[ACP] = 3-oxohexanoyl-[ACP] + CO2 + holo-[ACP]; Xref=Rhea:RHEA:41820, Rhea:RHEA-COMP:9623, Rhea:RHEA-COMP:9628, Rhea:RHEA-COMP:9629, Rhea:RHEA-COMP:9685, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:64479, ChEBI:CHEBI:78449, ChEBI:CHEBI:78454, ChEBI:CHEBI:78456; Evidence={ECO:0000269|PubMed:15668256};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H(+) + hexanoyl-[ACP] + malonyl-[ACP] = 3-oxooctanoyl-[ACP] + CO2 + holo-[ACP]; Xref=Rhea:RHEA:41836, Rhea:RHEA-COMP:9623, Rhea:RHEA-COMP:9632, Rhea:RHEA-COMP:9633, Rhea:RHEA-COMP:9685, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:64479, ChEBI:CHEBI:78449, ChEBI:CHEBI:78459, ChEBI:CHEBI:78460; Evidence={ECO:0000269|PubMed:15668256};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H(+) + malonyl-[ACP] + octanoyl-[ACP] = 3-oxodecanoyl-[ACP] + CO2 + holo-[ACP]; Xref=Rhea:RHEA:41852, Rhea:RHEA-COMP:9623, Rhea:RHEA-COMP:9636, Rhea:RHEA-COMP:9637, Rhea:RHEA-COMP:9685, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:64479, ChEBI:CHEBI:78449, ChEBI:CHEBI:78463, ChEBI:CHEBI:78464; Evidence={ECO:0000269|PubMed:15668256};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=decanoyl-[ACP] + H(+) + malonyl-[ACP] = 3-oxododecanoyl-[ACP] + CO2 + holo-[ACP]; Xref=Rhea:RHEA:41868, Rhea:RHEA-COMP:9623, Rhea:RHEA-COMP:9640, Rhea:RHEA-COMP:9641, Rhea:RHEA-COMP:9685, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:64479, ChEBI:CHEBI:78449, ChEBI:CHEBI:78468, ChEBI:CHEBI:78469; Evidence={ECO:0000269|PubMed:15668256};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=dodecanoyl-[ACP] + H(+) + malonyl-[ACP] = 3-oxotetradecanoyl-[ACP] + CO2 + holo-[ACP]; Xref=Rhea:RHEA:41884, Rhea:RHEA-COMP:9623, Rhea:RHEA-COMP:9644, Rhea:RHEA-COMP:9645, Rhea:RHEA-COMP:9685, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:64479, ChEBI:CHEBI:65264, ChEBI:CHEBI:78449, ChEBI:CHEBI:78473; Evidence={ECO:0000269|PubMed:15668256};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H(+) + malonyl-[ACP] + tetradecanoyl-[ACP] = 3-oxohexadecanoyl-[ACP] + CO2 + holo-[ACP]; Xref=Rhea:RHEA:41900, Rhea:RHEA-COMP:9623, Rhea:RHEA-COMP:9648, Rhea:RHEA-COMP:9649, Rhea:RHEA-COMP:9685, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:64479, ChEBI:CHEBI:78449, ChEBI:CHEBI:78477, ChEBI:CHEBI:78478; Evidence={ECO:0000269|PubMed:15668256};.
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 EnzymeRegulation:
Inhibited by cerulenin.

Enzyme Numbers (IUBMB) for OXSM Gene

Phenotypes From GWAS Catalog for OXSM Gene

Gene Ontology (GO) - Molecular Function for OXSM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0004315 3-oxoacyl-[acyl-carrier-protein] synthase activity IBA,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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for OXSM

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
nucleus 2
endoplasmic reticulum 2
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 1

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 IBA 21873635
GO:0006637 acyl-CoA metabolic process IDA 15668256
GO:0051790 short-chain fatty acid biosynthetic process IDA 15668256
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
  • (R)-beta-Hydroxypalmitic acid
  • (R)-b-Hydroxypalmitate
  • (R)-b-Hydroxypalmitic acid
  • (R)-beta-Hydroxypalmitate
  • (R)-β-hydroxypalmitate
3-Oxodecanoic acid
  • 3-Ketodecanoic acid
  • 3-Oxocapric acid
  • beta-Ketocapric acid
  • beta-Ketodecanoic acid
  • beta-Oxodecanoic acid
3-Oxododecanoic acid
  • 3-Oxododecanoate
  • 3-oxo-Dodecanoate
  • 3-oxo-Dodecanoic acid
3-Oxohexadecanoic acid
  • 3-keto Palmitic acid
  • 3-keto Palmitate
  • 3-Oxohexadecanoate
  • 3-oxo-Hexadecanoate
  • 3-oxo-Hexadecanoic acid
3-Oxotetradecanoic acid
  • 3-Oxomyristic acid
  • 3-Oxomyristate
  • 3-Oxotetradecanoate
  • 3-oxo-Tetradecanoate
  • 3-oxo-Tetradecanoic acid
genes like me logo Genes that share compounds with OXSM: view

Transcripts for OXSM Gene

mRNA/cDNA for OXSM Gene

2 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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

Expression for OXSM Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for OXSM Gene



Protein tissue co-expression partners for OXSM Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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.

Evidence on tissue expression from TISSUES for OXSM Gene

  • Skin(2.2)
  • Blood(2.1)
  • Liver(2)
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 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 30 31
  • 99.78 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia OXSM 30 31
  • 91.12 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Oxsm 30
  • 83.96 (n)
Mouse
(Mus musculus)
Mammalia Oxsm 30 17 31
  • 83.55 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia OXSM 30 31
  • 80.46 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia OXSM 31
  • 78 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 7 (a)
ManyToMany
Chicken
(Gallus gallus)
Aves OXSM 30 31
  • 73.16 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia OXSM 31
  • 70 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia oxsm 30
  • 70.9 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.12767 30
Zebrafish
(Danio rerio)
Actinopterygii OXSM 31
  • 66 (a)
OneToOne
LOC564649 30
  • 65.87 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG12170 30 31
  • 55.58 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002809 30
  • 54.03 (n)
Worm
(Caenorhabditis elegans)
Secernentea F10G8.9 31
  • 41 (a)
ManyToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CEM1 30 31 33
  • 50.08 (n)
OneToMany
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_ADL072C 30
  • 48.18 (n)
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C08239g 30
  • 47.26 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT2G04540 30
  • 55.05 (n)
Rice
(Oryza sativa)
Liliopsida Os02g0196900 30
  • 60.14 (n)
Os.37967 30
Wheat
(Triticum aestivum)
Liliopsida Ta.1178 30
Corn
(Zea mays)
Liliopsida Zm.7885 30
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 59 (a)
OneToOne
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC887.13c 30
  • 55.02 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU00056 30
  • 54.8 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.12046 30
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)
Aminode:
Evolutionary constrained regions (ECRs) for OXSM: view image

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for OXSM Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
VAR_036064 A breast cancer sample p.Phe106Ile

Additional dbSNP identifiers (rs#s) for OXSM Gene

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)

Additional Variant Information for OXSM Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for OXSM Gene

MalaCards: The human disease database

(1) MalaCards diseases for OXSM Gene - From: DISEASES

Disorder Aliases PubMed IDs
fanconi anemia, complementation group d2
  • fancd2
- elite association - COSMIC cancer census association via MalaCards
Search OXSM in MalaCards View complete list of genes associated with diseases

Additional Disease Information for OXSM

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with OXSM: view

No data available for 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) 2 3 4 23
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  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
  5. An AP-MS- and BioID-compatible MAC-tag enables comprehensive mapping of protein interactions and subcellular localizations. (PMID: 29568061) Liu X … Varjosalo M (Nature communications 2018) 3

Products for OXSM Gene

Sources for OXSM Gene