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OXSM (3-oxoacyl-ACP synthase, mitochondrial)

Identity

Alias_symbol (synonym)KS
FLJ20604
FASN2D
Other aliasCEM1
KASI
HGNC (Hugo) OXSM
LocusID (NCBI) 54995
Atlas_Id 71600
Location 3p24.2  [Link to chromosome band 3p24]
Location_base_pair Starts at 25790072 and ends at 25794534 bp from pter ( according to hg38-Dec_2013)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)OXSM   26063
Cards
Entrez_Gene (NCBI)OXSM  54995  3-oxoacyl-ACP synthase, mitochondrial
AliasesCEM1; FASN2D; KASI; KS
GeneCards (Weizmann)OXSM
Ensembl hg19 (Hinxton)ENSG00000151093 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000151093 [Gene_View]  chr3:25790072-25794534 [Contig_View]  OXSM [Vega]
ICGC DataPortalENSG00000151093
TCGA cBioPortalOXSM
AceView (NCBI)OXSM
Genatlas (Paris)OXSM
WikiGenes54995
SOURCE (Princeton)OXSM
Genetics Home Reference (NIH)OXSM
Genomic and cartography
GoldenPath hg38 (UCSC)OXSM  -     chr3:25790072-25794534 +  3p24.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)OXSM  -     3p24.2   [Description]    (hg19-Feb_2009)
EnsemblOXSM - 3p24.2 [CytoView hg19]  OXSM - 3p24.2 [CytoView hg38]
Mapping of homologs : NCBIOXSM [Mapview hg19]  OXSM [Mapview hg38]
OMIM610324   
Gene and transcription
Genbank (Entrez)AK000611 AK225260 AK304821 BC008202 DA916187
RefSeq transcript (Entrez)NM_001145391 NM_017897
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)OXSM
Cluster EST : UnigeneHs.55781 [ NCBI ]
CGAP (NCI)Hs.55781
Alternative Splicing GalleryENSG00000151093
Gene ExpressionOXSM [ NCBI-GEO ]   OXSM [ EBI - ARRAY_EXPRESS ]   OXSM [ SEEK ]   OXSM [ MEM ]
Gene Expression Viewer (FireBrowse)OXSM [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)54995
GTEX Portal (Tissue expression)OXSM
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NWU1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NWU1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NWU1
Splice isoforms : SwissVarQ9NWU1
Catalytic activity : Enzyme2.3.1.41 [ Enzyme-Expasy ]   2.3.1.412.3.1.41 [ IntEnz-EBI ]   2.3.1.41 [ BRENDA ]   2.3.1.41 [ KEGG ]   
PhosPhoSitePlusQ9NWU1
Domaine pattern : Prosite (Expaxy)B_KETOACYL_SYNTHASE (PS00606)   
Domains : Interpro (EBI)3-oxoacyl-ACP_synth-2    Ketoacyl_synth_AS    Ketoacyl_synth_C    Ketoacyl_synth_N    PKS_Beta-ketoAc_synthase_dom    Thiolase-like   
Domain families : Pfam (Sanger)ketoacyl-synt (PF00109)    Ketoacyl-synt_C (PF02801)   
Domain families : Pfam (NCBI)pfam00109    pfam02801   
Domain families : Smart (EMBL)PKS_KS (SM00825)  
Conserved Domain (NCBI)OXSM
DMDM Disease mutations54995
Blocks (Seattle)OXSM
PDB (SRS)2C9H    2IWY    2IWZ   
PDB (PDBSum)2C9H    2IWY    2IWZ   
PDB (IMB)2C9H    2IWY    2IWZ   
PDB (RSDB)2C9H    2IWY    2IWZ   
Structural Biology KnowledgeBase2C9H    2IWY    2IWZ   
SCOP (Structural Classification of Proteins)2C9H    2IWY    2IWZ   
CATH (Classification of proteins structures)2C9H    2IWY    2IWZ   
SuperfamilyQ9NWU1
Human Protein AtlasENSG00000151093
Peptide AtlasQ9NWU1
HPRD07931
IPIIPI00016637   IPI00922369   IPI00926633   IPI00926190   IPI00789342   
Protein Interaction databases
DIP (DOE-UCLA)Q9NWU1
IntAct (EBI)Q9NWU1
FunCoupENSG00000151093
BioGRIDOXSM
STRING (EMBL)OXSM
ZODIACOXSM
Ontologies - Pathways
QuickGOQ9NWU1
Ontology : AmiGO3-oxoacyl-[acyl-carrier-protein] synthase activity  mitochondrion  mitochondrion  cytosol  acyl-CoA metabolic process  short-chain fatty acid biosynthetic process  medium-chain fatty acid biosynthetic process  
Ontology : EGO-EBI3-oxoacyl-[acyl-carrier-protein] synthase activity  mitochondrion  mitochondrion  cytosol  acyl-CoA metabolic process  short-chain fatty acid biosynthetic process  medium-chain fatty acid biosynthetic process  
Pathways : KEGGFatty acid biosynthesis    Biotin metabolism   
NDEx NetworkOXSM
Atlas of Cancer Signalling NetworkOXSM
Wikipedia pathwaysOXSM
Orthology - Evolution
OrthoDB54995
GeneTree (enSembl)ENSG00000151093
Phylogenetic Trees/Animal Genes : TreeFamOXSM
HOVERGENQ9NWU1
HOGENOMQ9NWU1
Homologs : HomoloGeneOXSM
Homology/Alignments : Family Browser (UCSC)OXSM
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerOXSM [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)OXSM
dbVarOXSM
ClinVarOXSM
1000_GenomesOXSM 
Exome Variant ServerOXSM
ExAC (Exome Aggregation Consortium)OXSM (select the gene name)
Genetic variants : HAPMAP54995
Genomic Variants (DGV)OXSM [DGVbeta]
DECIPHEROXSM [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisOXSM 
Mutations
ICGC Data PortalOXSM 
TCGA Data PortalOXSM 
Broad Tumor PortalOXSM
OASIS PortalOXSM [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICOXSM  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDOXSM
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch OXSM
DgiDB (Drug Gene Interaction Database)OXSM
DoCM (Curated mutations)OXSM (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)OXSM (select a term)
intoGenOXSM
Cancer3DOXSM(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610324   
Orphanet
MedgenOXSM
Genetic Testing Registry OXSM
NextProtQ9NWU1 [Medical]
TSGene54995
GENETestsOXSM
Target ValidationOXSM
Huge Navigator OXSM [HugePedia]
snp3D : Map Gene to Disease54995
BioCentury BCIQOXSM
ClinGenOXSM
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD54995
Chemical/Pharm GKB GenePA142671214
Clinical trialOXSM
Miscellaneous
canSAR (ICR)OXSM (select the gene name)
Probes
Litterature
PubMed13 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineOXSM
EVEXOXSM
GoPubMedOXSM
iHOPOXSM
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed May 31 15:35:19 CEST 2017

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