Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene miRNA Gene ontology Other IDs Protein Pathways
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	54995
Gene name Gene Name - the full gene name approved by the HGNC.	3-oxoacyl-ACP synthase, mitochondrial
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	OXSM
Synonyms (NCBI Gene) Gene synonyms aliases	CEM1, FASN2D, KASI, KS
Chromosome Chromosome number	3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	3p24.2
Summary Summary of gene provided in NCBI Entrez 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]

Show/Hide all(4)

miRTarBase ID	miRNA	Experiments
MIRT1208661	hsa-miR-1179	CLIP-seq
MIRT1208662	hsa-miR-520d-5p	CLIP-seq
MIRT1208663	hsa-miR-524-5p	CLIP-seq
MIRT1208664	hsa-miR-548c-3p	CLIP-seq

Show/Hide all(20)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004315	Function	3-oxoacyl-[acyl-carrier-protein] synthase activity	IBA
GO:0004315	Function	3-oxoacyl-[acyl-carrier-protein] synthase activity	IDA	15668256
GO:0004315	Function	3-oxoacyl-[acyl-carrier-protein] synthase activity	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	IMP	15668256
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0005829	Component	Cytosol	IDA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006631	Process	Fatty acid metabolic process	IEA
GO:0006633	Process	Fatty acid biosynthetic process	IBA
GO:0006633	Process	Fatty acid biosynthetic process	IEA
GO:0006637	Process	Acyl-CoA metabolic process	IDA	15668256
GO:0016740	Function	Transferase activity	IEA
GO:0016746	Function	Acyltransferase activity	IEA
GO:0016747	Function	Acyltransferase activity, transferring groups other than amino-acyl groups	IEA
GO:0051790	Process	Short-chain fatty acid biosynthetic process	IDA	15668256
GO:0051792	Process	Medium-chain fatty acid biosynthetic process	IDA	15668256

MIM	HGNC	e!Ensembl
610324	26063	ENSG00000151093

Protein

UniProt ID

Q9NWU1

Protein name

3-oxoacyl-[acyl-carrier-protein] synthase, mitochondrial (EC 2.3.1.41) (Beta-ketoacyl-ACP synthase)

Protein function

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

PDB

2C9H , 2IWY , 2IWZ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00109	ketoacyl-synt	41 → 291	Beta-ketoacyl synthase, N-terminal domain	Domain
PF02801	Ketoacyl-synt_C	299 → 414	Beta-ketoacyl synthase, C-terminal domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. Higher expression in heart, skeletal muscle, liver and kidney which contain high levels of active mitochondria. {ECO:0000269|PubMed:15668256}.

Sequence

MSNCLQNFLKITSTRLLCSRLCQQLRSKRKFFGTVPISRLHRRVVITGIGLVTPLGVGTH
LVWDRLIGGESGIVSLVGEEYKSIPCSVAAYVPRGSDEGQFNEQNFVSKSDIKSMSSPTI
MAIGAAELAMKDSGWHPQSEADQVATGVAIGMGMIPLEVVSETALNFQTKGYNKVSPFFV
PKILVNMAAGQVSIRYKLKGPNHAVSTACTTGAHAVGDSFRFIAHGDADVMVAGGTDSCI
SPLSLAGFSRARALSTNSDPKLACRPFHPKRDGFVMGEGAAVLVLEEYEHAVQRRARIYA
EVLGYGLSGDAGHITAPDPEGEGALRCMAAALKDAGVQPEEISYINAHATSTPLGDAAEN
KAIKHLFKDHAYALAVSSTKGATGHLLGAAGAVEAAFTTLACYYQKLPPTLNLDCSEPEF
DLNYVPLKAQEWKTEKRFIGLTNSFGFGGTNATLCIAGL

Sequence length

459

Interactions

View interactions

	KEGG
	Fatty acid biosynthesis Biotin metabolism Metabolic pathways Fatty acid metabolism Biosynthesis of cofactors

OXSM (3-oxoacyl-ACP synthase, mitochondrial)