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carnitine palmitoyltransferase 1C

Summary

Gene Symbol

CPT1C

Aliases

CATL1
CPT1P
CPTIC
FLJ23809

Organism

Homo sapiens (human)

External Links

NCBI Gene

126129

HGNC

18540

KEGG Gene ID

hsa:126129

PubChem

126129

Alliance of Genome Resources

HGNC:18540

Annotation

Keyword

3D-structure
Acyltransferase
Alternative splicing
Cell projection
Disease variant
Endoplasmic reticulum
Fatty acid metabolism
Hereditary spastic paraplegia
Hydrolase
Reference proteome
Transmembrane helix

Proteins

Displaying **all 2** entries
UniProt	Protein Name
Q8TCG5	Carnitine O-palmitoyltransferase 1, brain isoform Carnitine palmitoyltransferase 1C Carnitine palmitoyltransferase I
B3KU49

Annotation information from UniProt.

Gene Ontology (GO)

Displaying **all 4** entries
GO Term	Evidence Code	PMID
fatty acid metabolic process	IBA ISS
regulation of postsynaptic membrane neurotransmitter receptor levels	IEA
macromolecule depalmitoylation	IEA
carnitine metabolic process	IBA ISS

GO Hierarchy

biological process

metabolic process [inference]

nitrogen compound metabolic process [inference]

cellular nitrogen compound metabolic process [inference]

amino-acid betaine metabolic process [inference]

carnitine metabolic process

organonitrogen compound metabolic process [inference]

cellular modified amino acid metabolic process [inference]

amino-acid betaine metabolic process [inference]

carnitine metabolic process

cellular metabolic process [inference]

organic acid metabolic process [inference]

oxoacid metabolic process [inference]

carboxylic acid metabolic process [inference]

monocarboxylic acid metabolic process [inference]

fatty acid metabolic process

cellular modified amino acid metabolic process [inference]

amino-acid betaine metabolic process [inference]

carnitine metabolic process

cellular nitrogen compound metabolic process [inference]

amino-acid betaine metabolic process [inference]

carnitine metabolic process

cellular lipid metabolic process [inference]

fatty acid metabolic process

primary metabolic process [inference]

lipid metabolic process [inference]

cellular lipid metabolic process [inference]

fatty acid metabolic process

small molecule metabolic process [inference]

organic acid metabolic process [inference]

oxoacid metabolic process [inference]

carboxylic acid metabolic process [inference]

monocarboxylic acid metabolic process [inference]

fatty acid metabolic process

organic substance metabolic process [inference]

organic acid metabolic process [inference]

oxoacid metabolic process [inference]

carboxylic acid metabolic process [inference]

monocarboxylic acid metabolic process [inference]

fatty acid metabolic process

lipid metabolic process [inference]

cellular lipid metabolic process [inference]

fatty acid metabolic process

macromolecule metabolic process [inference]

macromolecule modification [inference]

macromolecule deacylation [inference]

macromolecule depalmitoylation

organonitrogen compound metabolic process [inference]

cellular modified amino acid metabolic process [inference]

amino-acid betaine metabolic process [inference]

carnitine metabolic process

cellular process [inference]

cellular metabolic process [inference]

organic acid metabolic process [inference]

oxoacid metabolic process [inference]

carboxylic acid metabolic process [inference]

monocarboxylic acid metabolic process [inference]

fatty acid metabolic process

cellular modified amino acid metabolic process [inference]

amino-acid betaine metabolic process [inference]

carnitine metabolic process

cellular nitrogen compound metabolic process [inference]

amino-acid betaine metabolic process [inference]

carnitine metabolic process

cellular lipid metabolic process [inference]

fatty acid metabolic process

biological regulation [inference]

regulation of biological quality [inference]

regulation of postsynaptic membrane neurotransmitter receptor levels

Displaying entries **1 - 5** of 8 in total

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GO Term	Evidence Code	PMID
AMPA glutamate receptor complex	IEA
glutamatergic synapse	IEA
endoplasmic reticulum	IDA ISS	30135643
axon	ISS
dendrite	ISS

GO Hierarchy

cellular component

protein-containing complex [inference]

receptor complex [inference]

plasma membrane signaling receptor complex [inference]

neurotransmitter receptor complex [inference]

ionotropic glutamate receptor complex [inference]

AMPA glutamate receptor complex

membrane protein complex [inference]

plasma membrane protein complex [inference]

plasma membrane signaling receptor complex [inference]

neurotransmitter receptor complex [inference]

ionotropic glutamate receptor complex [inference]

AMPA glutamate receptor complex

transmembrane transporter complex [inference]

monoatomic ion channel complex [inference]

ionotropic glutamate receptor complex [inference]

AMPA glutamate receptor complex

transporter complex [inference]

transmembrane transporter complex [inference]

monoatomic ion channel complex [inference]

ionotropic glutamate receptor complex [inference]

AMPA glutamate receptor complex

cellular anatomical entity [inference]

membrane [inference]

organelle membrane [inference]

endoplasmic reticulum membrane

cell junction [inference]

synapse [inference]

glutamatergic synapse

cell projection [inference]

plasma membrane bounded cell projection [inference]

neuron projection [inference]

organelle [inference]

membrane-bounded organelle [inference]

intracellular membrane-bounded organelle [inference]

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

postsynapse

Displaying **all 3** entries
GO Term	Evidence Code	PMID
carnitine O-palmitoyltransferase activity	ISS
palmitoyl-(protein) hydrolase activity	IDA	30135643
protein binding	IPI	25751282

GO Hierarchy

molecular function

catalytic activity [inference]

transferase activity [inference]

acyltransferase activity [inference]

acyltransferase activity, transferring groups other than amino-acyl groups [inference]

O-acyltransferase activity [inference]

carnitine O-acyltransferase activity [inference]

carnitine O-palmitoyltransferase activity

O-palmitoyltransferase activity [inference]

carnitine O-palmitoyltransferase activity

palmitoyltransferase activity [inference]

O-palmitoyltransferase activity [inference]

carnitine O-palmitoyltransferase activity

hydrolase activity [inference]

hydrolase activity, acting on ester bonds [inference]

thiolester hydrolase activity [inference]

palmitoyl-(protein) hydrolase activity

palmitoyl hydrolase activity [inference]

palmitoyl-(protein) hydrolase activity

catalytic activity, acting on a protein [inference]

palmitoyl-(protein) hydrolase activity

binding [inference]

protein binding

Gene Ontology information from NCBI Gene and UniProt.

KEGG BRITE Database

Orthology

K19524

Name

carnitine O-palmitoyltransferase 1, brain isoform [EC:2.3.1.21]

References

12376098

Rhea

RHEA:19233

H₂O

H⁺ + hexadecanoate

Enzyme

3.1.2.22

PMID

Disease

Disease Ontology

Displaying entries **1 - 10** of 31 in total

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DO ID	Disease Name	Source
DOID:0050328	congenital hypothyroidism	DisGeNET
DOID:0110763	hereditary spastic paraplegia 10	DisGeNET
DOID:0110818	hereditary spastic paraplegia 73	DisGeNET Alliance of Genome Resources
DOID:11123	Henoch-Schoenlein purpura	DisGeNET
DOID:11634	myxedema	DisGeNET
DOID:1389	polyneuropathy	DisGeNET
DOID:1459	hypothyroidism	DisGeNET
DOID:1612	breast cancer	DisGeNET DisGeNET
DOID:162	cancer	DisGeNET DisGeNET DisGeNET
DOID:1909	melanoma	DisGeNET

The Human Phenotype Ontology

Displaying entries **1 - 10** of 26 in total

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HPO ID	HPO Term
HP:0000006	Autosomal dominant inheritance
HP:0000012	Urinary urgency
HP:0000020	Urinary incontinence
HP:0000726	Dementia
HP:0001250	Seizure
HP:0001258	Spastic paraplegia
HP:0001347	Hyperreflexia
HP:0001761	Pes cavus
HP:0002061	Lower limb spasticity
HP:0002064	Spastic gait

Displaying **all 2** entries
Disease ID	Disease Name
ORPHA:444099	hereditary spastic paraplegia 73
OMIM:616282	hereditary spastic paraplegia 73

PubChem Disease

MedGen Diseases

Hereditary spastic paraplegia 73

OMIM Phenotypes

SPASTIC PARAPLEGIA 73, AUTOSOMAL DOMINANT; SPG73

KEGG Diseases

Hereditary spastic paraplegia

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

LIPID MAPS Gene / Proteome Database

LMPD ID: LMP002438
Gene Name: carnitine palmitoyltransferase 1C

Ortholog

Displaying entries **1 - 10** of 44 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Caenorhabditis elegans	174912	WB:WBGene00012907
Drosophila melanogaster	36109	FB:FBgn0261862
Danio rerio	550361	ZFIN:ZDB-GENE-050417-155
Ornithorhynchus anatinus	100681838		ORNAN01152
Callithrix jacchus	100391686		CALJA23290
Cercocebus atys	105595303		CERAT28605
Macaca fascicularis	102134440		MACFA18802
Macaca mulatta	719429		MACMU19463
Macaca nemestrina	105497188		MACNE21612
Papio anubis	101014272		PAPAN22147

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

All Resources

Other Information

Tools

Search Tools

Summary

External Links

Annotation

KEGG BRITE Database

PubChem Disease

LIPID MAPS Gene / Proteome Database

International Collaboration

Acknowledgements