Seroatlas · Human Serome Atlas

CPT1A

Carnitine O-palmitoyltransferase 1, liver isoform

Also known as: CPT1, CPT1-L, CPT1A_HUMAN, L-CPT1

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: P50416
Gene: CPT1A
Ensembl: ENSG00000110090
Chromosome: 11
Canonical length: 773 aa
Protein class: Disease related genes, Enzymes, FDA approved drug targets, Human disease related genes, Metabolic proteins, Plasma proteins, Predicted intracellular proteins, Predicted membrane proteins, Transporters
Subcellular location: Mitochondria
Quaternary structure: Homohexamer

OverviewNCBI Gene

The mitochondrial oxidation of long-chain fatty acids is initiated by the sequential action of carnitine palmitoyltransferase I (which is located in the outer membrane and is detergent-labile) and carnitine palmitoyltransferase II (which is located in the inner membrane and is detergent-stable), together with a carnitine-acylcarnitine translocase. CPT I is the key enzyme in the carnitine-dependent transport across the mitochondrial inner membrane and its deficiency results in a decreased rate of fatty acid beta-oxidation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

773 residues, UniProt reviewed canonical sequence.

>P50416|CPT1A
     1  MAEAHQAVAF QFTVTPDGID LRLSHEALRQ IYLSGLHSWK KKFIRFKNGI ITGVYPASPS
    61  SWLIVVVGVM TTMYAKIDPS LGIIAKINRT LETANCMSSQ TKNVVSGVLF GTGLWVALIV
   121  TMRYSLKVLL SYHGWMFTEH GKMSRATKIW MGMVKIFSGR KPMLYSFQTS LPRLPVPAVK
   181  DTVNRYLQSV RPLMKEEDFK RMTALAQDFA VGLGPRLQWY LKLKSWWATN YVSDWWEEYI
   241  YLRGRGPLMV NSNYYAMDLL YILPTHIQAA RAGNAIHAIL LYRRKLDREE IKPIRLLGST
   301  IPLCSAQWER MFNTSRIPGE ETDTIQHMRD SKHIVVYHRG RYFKVWLYHD GRLLKPREME
   361  QQMQRILDNT SEPQPGEARL AALTAGDRVP WARCRQAYFG RGKNKQSLDA VEKAAFFVTL
   421  DETEEGYRSE DPDTSMDSYA KSLLHGRCYD RWFDKSFTFV VFKNGKMGLN AEHSWADAPI
   481  VAHLWEYVMS IDSLQLGYAE DGHCKGDINP NIPYPTRLQW DIPGECQEVI ETSLNTANLL
   541  ANDVDFHSFP FVAFGKGIIK KCRTSPDAFV QLALQLAHYK DMGKFCLTYE ASMTRLFREG
   601  RTETVRSCTT ESCDFVRAMV DPAQTVEQRL KLFKLASEKH QHMYRLAMTG SGIDRHLFCL
   661  YVVSKYLAVE SPFLKEVLSE PWRLSTSQTP QQQVELFDLE NNPEYVSSGG GFGPVADDGY
   721  GVSYILVGEN LINFHISSKF SCPETDSHRF GRHLKEAMTD IITLFGLSSN SKK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CPT1A 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): 0.23
Highest tissue expression: 67 nTPM

Expression across tissuesHPA

Tissue

small intestine: 67 nTPM
duodenum: 67 nTPM
liver: 64 nTPM
colon: 63 nTPM
rectum: 42 nTPM
bone marrow: 37 nTPM

Single-cell type

renal collecting duct intercalated cells: 208 nCPM
cone photoreceptor cells: 201 nCPM
colonocytes: 177 nCPM
hepatocytes: 166 nCPM
hematopoietic stem cells: 164 nCPM
rod photoreceptor cells: 161 nCPM

Immune cell

plasmacytoid DC: 10 nTPM
eosinophil: 9.5 nTPM
basophil: 8.2 nTPM
intermediate monocyte: 7.7 nTPM
gdT-cell: 7.3 nTPM
non-classical monocyte: 6.7 nTPM

Brain region

choroid plexus: 72 nTPM
midbrain: 52 nTPM
thalamus: 50 nTPM
medulla oblongata: 49 nTPM
cerebellum: 47 nTPM
pons: 46 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CPT1A.

Disease | AllUniProt

Conditions CPT1A is implicated in, by any mechanism.

Carnitine palmitoyltransferase 1A deficiency (CPT1AD) MIM:255120

Disease | GeneticClinVar

184 pathogenic / likely-pathogenic of 1,192 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Carnitine palmitoyl transferase 1A deficiency
Inborn genetic diseases
CPT1A-related disorder
CPT1A ARCTIC VARIANT
CPT1A POLYMORPHISM

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): 0.66
gnomAD pLI: 0
gnomAD missense Z: 1.64
DepMap mean gene effect: -0.11
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of CPT1A in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

ZDHHC4

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads CPT1A as an antibody target. Whether an autoantibody or antibody against CPT1A could matter depends on whether native CPT1A is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CPT1A is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label CPT1A as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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