CPT1C (carnitine palmitoyltransferase 1C)

2021-06-01  

Identity

HGNC
CPT1C
LOCATION
19q13.33
LOCUSID
126129
ALIAS
CATL1,CPT1-B,CPT1P,CPTI-B,CPTIC,SPG73

Other Information

Locus ID:

NCBI: 126129
MIM: 608846
HGNC: 18540
Ensembl: ENSG00000169169

Variants:

dbSNP: 126129
ClinVar: 126129
TCGA: ENSG00000169169
COSMIC: CPT1C

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000169169ENST00000323446Q8TCG5
ENSG00000169169ENST00000323446A0A024QZE3
ENSG00000169169ENST00000392518Q8TCG5
ENSG00000169169ENST00000392518A0A024QZE3
ENSG00000169169ENST00000405931Q8TCG5
ENSG00000169169ENST00000405931A0A024QZI3
ENSG00000169169ENST00000594038M0R0D3
ENSG00000169169ENST00000594587M0R115
ENSG00000169169ENST00000595031M0R2H6
ENSG00000169169ENST00000595568M0R399
ENSG00000169169ENST00000595969M0R2B9
ENSG00000169169ENST00000596922M0R0D3
ENSG00000169169ENST00000597099M0R1F9
ENSG00000169169ENST00000598259M0R0D3
ENSG00000169169ENST00000598293Q8TCG5
ENSG00000169169ENST00000598293A0A024QZE3
ENSG00000169169ENST00000598396M0QZ13
ENSG00000169169ENST00000602019M0R2V3

Expression (GTEx)

0
10
20
30
40
50
60
70
80
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 degradationKEGGko00071
PPAR signaling pathwayKEGGko03320
Adipocytokine signaling pathwayKEGGko04920
Fatty acid degradationKEGGhsa00071
PPAR signaling pathwayKEGGhsa03320
Adipocytokine signaling pathwayKEGGhsa04920
Fatty acid metabolismKEGGhsa01212
Fatty acid metabolismKEGGko01212
AMPK signaling pathwayKEGGhsa04152
AMPK signaling pathwayKEGGko04152
Glucagon signaling pathwayKEGGhsa04922
Glucagon signaling pathwayKEGGko04922

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
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
215762642011Carnitine palmitoyltransferase 1C promotes cell survival and tumor growth under conditions of metabolic stress.172
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
181922682008CPT1c is localized in endoplasmic reticulum of neurons and has carnitine palmitoyltransferase activity.52
267088652016Carnitine palmitoyltransferase 1C: From cognition to cancer.26
246188252014High grade glioblastoma is associated with aberrant expression of ZFP57, a protein involved in gene imprinting, and of CPT1A and CPT1C that regulate fatty acid metabolism.23
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
257512822015Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic Paraplegia.16
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
260416632015The Carnitine Palmitoyl Transferase (CPT) System and Possible Relevance for Neuropsychiatric and Neurological Conditions.9
283341972017PPARα regulates tumor cell proliferation and senescence via a novel target gene carnitine palmitoyltransferase 1C.9

Citation

Dessen P

CPT1C (carnitine palmitoyltransferase 1C)

Atlas Genet Cytogenet Oncol Haematol. 2021-06-01

Online version: http://atlasgeneticsoncology.org/gene/58360/cpt1c-(carnitine-palmitoyltransferase-1c)