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FLASH GENE
Symbol CPT1C contributors: mct/shn - updated : 09-12-2016
HGNC name carnitine palmitoyltransferase 1C
HGNC id 18540
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
    Physical map
    NTT5 19q13.1-q13.4 vaccinia related kinase 3 CD37 19q13.3 CD37 antigen DKKL1-pending 19q13.33 soggy-1 gene TEAD2 19q13.3 TEA domain family member 2 FLJ32658 19q13.33 hypothetical protein FLJ32658 TIP39 19q13.33 tuberoinfundibular 39 residue protein precursor LOC390955 19 similar to ENSANGP00000004655 SLC17A7 19q13 solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7 FLJ20643 19q13.33 hypothetical protein FLJ20643 MGC10204 19q13.33 hypothetical protein MGC10204 FLT3LG 19q13.3 fms-related tyrosine kinase 3 ligand RPL13A 19q13.4 ribosomal protein L13a RPS11 19q13.3 ribosomal protein S11 FCGRT 19q13.3 Fc fragment of IgG, receptor, transporter, alpha RCN3 19q13.33 reticulocalbin 3, EF-hand calcium binding domain NOSIP 19q13.3 nitric oxide synthase interacting protein PRRG2 19q13.33 proline-rich Gla (G-carboxyglutamic acid) polypeptide 2 KIAA1205 19q13.33 KIAA1205 RRAS 19q13.3-q13.4 related RAS viral (r-ras) oncogene homolog SR-A1 19q13.3-q13.4 serine arginine-rich pre-mRNA splicing factor SR-A1 IRF3 19q13.3 interferon regulatory factor 3 BCL2L12 19q13.3 BCL2-like 12 (proline rich) HRMT1L2 19q13-3 HMT1 hnRNP methyltransferase-like 2 (S. cerevisiae) LOC199800 19q13.33 hypothetical protein LOC199800 CPT1C 19q13.33 hypothetical protein LOC199800 LOC388556 19 hypothetical gene supported by NM_001013 TSKS 19q13.3 hypothetical gene supported by NM_001013 AP2A1 19q13.3 adaptor-related protein complex 2, alpha 1 subunit FLJ22688 19q13.33 hypothetical protein FLJ22688 TCBAP0758 19q13.3 hypothetical protein TCBAP0758 PTOV1 19q13.33 prostate tumor over expressed gene 1 PNKP 19q13.3-q13.4 polynucleotide kinase 3'-phosphatase MGC2865 19q13.33 hypothetical protein MGC2865 FLJ12168 IL4I1 19q13.3-q13.4 interleukin 4 induced 1 NUP62 19q13.33 nucleoporin 62kDa ATF5 19q13.3 activating transcription factor 5 SIGLEC11 19q13.33 sialic acid binding Ig-like lectin 11 VRK3 19q13 vaccinia related kinase 3
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    20 splicing 2853 - 792 - 2004 15363638
    20 splicing 2935 - 803 - 2004 15363638
    20 splicing 2883 - 803 - 2004 15363638
    19 splicing 2814 - 803 - 2004 15363638
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbraindiencephalonhypothalamus highly
     brainlimbic systemhippocampus   Homo sapiens
    Visualeyeretina    Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron Homo sapiens
    Nervouspyramidal cell Homo sapiens
    Visualcone 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