CPT1C

Protein identityUniProt · HPA

UniProt accession

Q8TCG5

Gene

CPT1C

Ensembl

ENSG00000169169

Chromosome

19

Canonical length

803 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins

OverviewNCBI Gene

This gene encodes a member of the carnitine/choline acetyltransferase family. The encoded protein regulates the beta-oxidation and transport of long-chain fatty acids into mitochondria, and may play a role in the regulation of feeding behavior and whole-body energy homeostasis. Alternatively spliced transcript variants encoding multiple protein isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]

Canonical amino-acid sequenceUniProt

803 residues, UniProt reviewed canonical sequence.

>Q8TCG5|CPT1C
     1  MAEAHQAVGF RPSLTSDGAE VELSAPVLQE IYLSGLRSWK RHLSRFWNDF LTGVFPASPL
    61  SWLFLFSAIQ LAWFLQLDPS LGLMEKIKEL LPDWGGQHHG LRGVLAAALF ASCLWGALIF
   121  TLHVALRLLL SYHGWLLEPH GAMSSPTKTW LALVRIFSGR HPMLFSYQRS LPRQPVPSVQ
   181  DTVRKYLESV RPILSDEDFD WTAVLAQEFL RLQASLLQWY LRLKSWWASN YVSDWWEEFV
   241  YLRSRNPLMV NSNYYMMDFL YVTPTPLQAA RAGNAVHALL LYRHRLNRQE IPPTLLMGMR
   301  PLCSAQYEKI FNTTRIPGVQ KDYIRHLHDS QHVAVFHRGR FFRMGTHSRN SLLSPRALEQ
   361  QFQRILDDPS PACPHEEHLA ALTAAPRGTW AQVRTSLKTQ AAEALEAVEG AAFFVSLDAE
   421  PAGLTREDPA ASLDAYAHAL LAGRGHDRWF DKSFTLIVFS NGKLGLSVEH SWADCPISGH
   481  MWEFTLATEC FQLGYSTDGH CKGHPDPTLP QPQRLQWDLP DQIHSSISLA LRGAKILSEN
   541  VDCHVVPFSL FGKSFIRRCH LSSDSFIQIA LQLAHFRDRG QFCLTYESAM TRLFLEGRTE
   601  TVRSCTREAC NFVRAMEDKE KTDPQCLALF RVAVDKHQAL LKAAMSGQGV DRHLFALYIV
   661  SRFLHLQSPF LTQVHSEQWQ LSTSQIPVQQ MHLFDVHNYP DYVSSGGGFG PADDHGYGVS
   721  YIFMGDGMIT FHISSKKSST KTDSHRLGQH IEDALLDVAS LFQAGQHFKR RFRGSGKENS
   781  RHRCGFLSRQ TGASKASMTS TDF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CPT1C can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Other membrane

Secreted

No

Transmembrane segments

2

Mean surface accessibility (rSASA)

0.25

Highest tissue expression

28 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CPT1C.

Disease | AllUniProt

Conditions CPT1C is implicated in, by any mechanism.

• Spastic paraplegia 73, autosomal dominant (SPG73) MIM:616282

Disease | GeneticClinVar

17 pathogenic / likely-pathogenic of 432 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Hereditary spastic paraplegia 73

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.69

gnomAD pLI

0

gnomAD missense Z

1.31

DepMap mean gene effect

-0.06

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• carnitine metabolic process
• fatty acid metabolic process
• regulation of postsynaptic membrane neurotransmitter receptor levels

Molecular functions

• acyltransferase activity
• palmitoyl-(protein) hydrolase activity

Cellular components

• AMPA glutamate receptor complex
• axon
• dendrite
• endoplasmic reticulum
• endoplasmic reticulum membrane
• glutamatergic synapse
• postsynapse

Protein domainsUniProt · Pfam · InterPro

• Acyltransferase ChoActase/COT/CPT
• Chloramphenicol acetyltransferase-like domain superfamily
• Carnitine O-palmitoyltransferase, N-terminal
• Choline/Carnitine o-acyltransferase, domain 1 and 2
• Choline/Carnitine o-acyltransferase, domain 2
• Choline/Carnitine o-acyltransferase
• Carnitine O-palmitoyltransferase N-terminus

KeywordsUniProt

• Acyltransferase
• Cell projection
• Endoplasmic reticulum
• Fatty acid metabolism
• Hereditary spastic paraplegia
• Hydrolase
• Lipid metabolism
• Membrane
• Neurodegeneration
• Transferase
• Transmembrane
• Transmembrane helix

InteractionsUniProt · HPA

Protein binding partners of CPT1C in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• ATL1
• SACM1L