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FLASH GENE

Symbol

CPT1C

contributors: mct/shn - updated : 09-12-2016

HGNC name	carnitine palmitoyltransferase 1C
HGNC id	18540

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	SPG73 Spastic paraplegia 73
Location	19q13.33      Physical location : 50.194.400 - 50.216.988
Synonym name	carnitine palmitoyltransferase 1 related c
	carnitine O-palmitoyltransferase I, brain isoform
	carnitine O-palmitoyltransferase 1, brain isoform
	carnitine acyltransferase-like protein 1
	CPT1-like pseudogene
Synonym symbol(s)	FLJ23809, CATL1, CPTIC, CPT1P, CPT1-B, CPTI-B,
EC.number	2.3.1.21

DNA

TYPE	functioning gene
STRUCTURE	23.06 kb     20 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
text structure	polyadenylation signal AATAAA

MAPPING

cloned

Y

linked

N

status

confirmed

Map	cen - D19S879 - D19S604 - CPT1C - D19S867 - D19S585 - qter

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001136052 (transcript variant 1) 20 splicing 2853 NP_001129524 - 792 - 2004 15363638 NM_001199752 (transcript variant 3) 20 splicing 2935 NP_689572 - 803 - 2004 15363638 NM_001199753 (transcript variant 4) 20 splicing 2883 NP_001186682 - 803 - 2004 15363638 NM_152359 (transcript variant 2) 19 splicing 2814 NP_689572 - 803 - 2004 15363638

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Nervous brain diencephalon hypothalamus   highly   brain limbic system hippocampus     Homo sapiens Visual eye retina       Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron Homo sapiens Nervous pyramidal cell Homo sapiens Visual cone photoreceptor Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N-terminal end lacks the mitochondrial import signal present in CPT1A and contains a putative microsomal targeting signal responsible for ER localization
	two membrane-spanning region, and second transmembrane domain is longer than in the other two isoforms, which may enable it to sort proteins to the ER rather than to mitochondrial outer membrane
	a large C terminal cytosolic domain responsible for the catalytic function

HOMOLOGY

interspecies	ortholog to Cpt1, Mus musculus
	ortholog to Cpt1c, Rattus Norvegicus

intraspecies

homolog to CPT1A,CPT1B

Homologene

FAMILY

carnitine/choline acetyltransferase family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,mitochondria,outer
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
text	brain-specific isoform located in the endoplasmic reticulum of neurons
	located in the endoplasmic reticulum throughout the neuron, even inside dendritic spines

basic FUNCTION	playing a role in neural tissue fatty acid metabolism and in feeding behavior or appetite control
	participates in a biosynthetic pathway, facilitating the constant transport of palmitate across the ER membrane, rather than in a highly active catabolic pathway such as fatty acid oxidation
	necessary for the regulation of energy homeostasis
	can elicit profound effects on brain physiology and total fatty acid profiles
	is implicated in malonyl-CoA action in leptin hypothalamic anorectic signaling pathways
	implicated in the hypothalamic regulation of food intake and energy homeostasis
	regulates the levels of ceramide in the endoplasmic reticulum of hippocampal neurons, and this is a relevant mechanism for the correct maturation of dendritic spines and for proper spatial learning
	couples malonyl-CoA to ceramide levels thereby contributing to systemic energy homeostasis and feeding behavior
	plays a role as a novel regulator of AMPAR surface expression in neurons
	is a regulator of AMPAR translation efficiency and therefore also synaptic function in the hippocampus

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

text	carnitine palmitoyltransferase activity

PATHWAY

metabolism

lipid/lipoprotein

signaling

fatty and beta oxidation pathway

a component

INTERACTION

DNA

RNA

small molecule

protein	binding malonyl-CoA, and regulating malonyl-CoA availability in the brain cell
	in addition to formerly reported mechanisms, GHRL also induces food intake through regulation of hypothalamic CPT1C and ceramide metabolism, a finding of potential importance for the understanding and treatment of obesity
	despite its potential as a depalmitoylating enzyme, CPT1C does not affect the palmitoylation state of GRIA1
	CPT1C binds GRIA1 and GRIA2 and that the three proteins have the same expression profile during neuronal maturation

cell & other

REGULATION

inhibited by

malonyl-CoA during physiological hyperglycemia w ASSOCIATED DISORDERS corresponding disease(s) SPG73 Susceptibility Variant & Polymorphism Candidate gene Marker Therapy target ANIMAL & CELL MODELS CPT1c KO mice have lower body weight and food intake, exhibit decreased rates of fatty acid oxidation and are more susceptible to obesity double transgenic mice CPT1c-TgN displayed severe growth retardation and a greater reduction in brain weight in the postnatal period with a stunted development at 2 weeks of age