OXSM (3-oxoacyl-ACP synthase, mitochondrial)

2014-11-01  

Identity

HGNC
OXSM
LOCATION
3p24.2
LOCUSID
54995
ALIAS
CEM1,FASN2D,KASI,KS

Other Information

Locus ID:

NCBI: 54995
MIM: 610324
HGNC: 26063
Ensembl: ENSG00000151093

Variants:

dbSNP: 54995
ClinVar: 54995
TCGA: ENSG00000151093
COSMIC: OXSM

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000151093ENST00000280701Q9NWU1
ENSG00000151093ENST00000280701A0A024R2Q9
ENSG00000151093ENST00000420173Q9NWU1
ENSG00000151093ENST00000428266C9JQQ2
ENSG00000151093ENST00000448177F8VNS3
ENSG00000151093ENST00000452098C9J2G3
ENSG00000151093ENST00000626005F8VNS3

Expression (GTEx)

0
5
10
15
20
25
30
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Fatty acid biosynthesisKEGGko00061
Biotin metabolismKEGGko00780
Fatty acid biosynthesisKEGGhsa00061
Biotin metabolismKEGGhsa00780
Metabolic pathwaysKEGGhsa01100
Fatty acid biosynthesis, elongationKEGGhsa_M00083
Fatty acid biosynthesis, elongationKEGGM00083
Fatty acid metabolismKEGGhsa01212
Fatty acid metabolismKEGGko01212

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
156682562005Cloning, expression, and characterization of the human mitochondrial beta-ketoacyl synthase. Complementation of the yeast CEM1 knock-out strain.24
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17

Citation

Dessen P

OXSM (3-oxoacyl-ACP synthase, mitochondrial)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/71600/oxsm