MCAT (malonyl-CoA-acyl carrier protein transacylase)

2014-11-01  

Identity

HGNC
MCAT
LOCATION
22q13.2
LOCUSID
27349
ALIAS
FASN2C,MCT,MCT1,MT,NET62,fabD
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 27349
MIM: 614479
HGNC: 29622
Ensembl: ENSG00000100294

Variants:

dbSNP: 27349
ClinVar: 27349
TCGA: ENSG00000100294
COSMIC: MCAT

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000100294ENST00000290429Q8IVS2
ENSG00000100294ENST00000327555Q8IVS2
ENSG00000100294ENST00000608052V9GYY6

Expression (GTEx)

0
5
10
15
20
25
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
Fatty acid biosynthesisKEGGhsa00061
Metabolic pathwaysKEGGhsa01100
Fatty acid biosynthesis, initiationKEGGM00082
Fatty acid metabolismKEGGhsa01212
Fatty acid metabolismKEGGko01212
Fatty acid biosynthesis, initiationKEGGhsa_M00082
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Fatty acid, triacylglycerol, and ketone body metabolismREACTOMER-HSA-535734
Mitochondrial Fatty Acid Beta-OxidationREACTOMER-HSA-77289

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
339183932021MCAT Mutations Cause Nuclear LHON-like Optic Neuropathy.13
339183932021MCAT Mutations Cause Nuclear LHON-like Optic Neuropathy.13
319158292020Novel mutations in malonyl-CoA-acyl carrier protein transacylase provoke autosomal recessive optic neuropathy.12
319158292020Novel mutations in malonyl-CoA-acyl carrier protein transacylase provoke autosomal recessive optic neuropathy.12
205643192010Prostate cancer risk-associated variants reported from genome-wide association studies: meta-analysis and their contribution to genetic Variation.37
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20
205643192010Prostate cancer risk-associated variants reported from genome-wide association studies: meta-analysis and their contribution to genetic Variation.37
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20
197677532009Identification of seven new prostate cancer susceptibility loci through a genome-wide association study.243
197677532009Identification of seven new prostate cancer susceptibility loci through a genome-wide association study.243

Citation

Dessen P

MCAT (malonyl-CoA-acyl carrier protein transacylase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/68838/css/lib/gene-fusions-explorer/