CPT1B (carnitine palmitoyltransferase 1B)

2016-10-01  

Identity

HGNC
CPT1B
LOCATION
22q13.33
LOCUSID
1375
ALIAS
CPT1-M,CPT1M,CPTI,CPTI-M,M-CPT1,MCCPT1,MCPT1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 1375
MIM: 601987
HGNC: 2329
Ensembl: ENSG00000205560

Variants:

dbSNP: 1375
ClinVar: 1375
TCGA: ENSG00000205560
COSMIC: CPT1B

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000205560ENST00000312108Q92523
ENSG00000205560ENST00000312108A0A024R4W7
ENSG00000205560ENST00000360719Q92523
ENSG00000205560ENST00000360719A0A024R4W7
ENSG00000205560ENST00000395650Q92523
ENSG00000205560ENST00000395650A0A024R4W7
ENSG00000205560ENST00000405237Q92523
ENSG00000205560ENST00000405237A0A024R4W7
ENSG00000205560ENST00000417176C9J7C3
ENSG00000205560ENST00000423069H7C0S1
ENSG00000205560ENST00000457250Q92523

Expression (GTEx)

0
50
100
150
200
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
Signal TransductionREACTOMER-HSA-162582
Signaling by Retinoic AcidREACTOMER-HSA-5362517
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Fatty acid, triacylglycerol, and ketone body metabolismREACTOMER-HSA-535734
Import of palmitoyl-CoA into the mitochondrial matrixREACTOMER-HSA-200425
Insulin resistanceKEGGhsa04931

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
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
188206972008Variant between CPT1B and CHKB associated with susceptibility to narcolepsy.40
188206972008Variant between CPT1B and CHKB associated with susceptibility to narcolepsy.40
186604892008Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations.26
190748852008Genetic variants in apoptosis and immunoregulation-related genes are associated with risk of chronic lymphocytic leukemia.25
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
120153202002Structural and functional genomics of the CPT1B gene for muscle-type carnitine palmitoyltransferase I in mammals.13
170890952007Variants within the muscle and liver isoforms of the carnitine palmitoyltransferase I (CPT1) gene interact with fat intake to modulate indices of obesity in French-Canadians.13
189961022009Physiogenomic comparison of edema and BMI in patients receiving rosiglitazone or pioglitazone.11
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

Citation

Dessen P

CPT1B (carnitine palmitoyltransferase 1B)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56198/cpt1b