CPT1C
entrez
126129
canonical
uniprot
Q8TCG5
canonical
ensembl
ENSG00000169169
resolver
ensp
ENSP00000319343
resolver
ensp
ENSP00000376303
resolver
ensp
ENSP00000384465
resolver
ensp
ENSP00000473028
resolver
ensp
ENSP00000548821
resolver
ensp
ENSP00000599775
resolver
ensp
ENSP00000611284
resolver
genesymbol
CPT1C
resolver
genesymbol_syn
CATL1
resolver
hgnc
HGNC:18540
resolver
uniprot
A8K0Z8
resolver
uniprot
B3KU49
resolver
uniprot
Q5K6N5
resolver
uniprot
Q8N6Q9
resolver
uniprot
Q8NDS6
resolver
uniprot
Q8TE84
resolver
uniprot_entry
B3KU49_HUMAN
resolver
uniprot_entry
CPT1C_HUMAN
resolver
uniprot_sec
A8K0Z8
resolver
uniprot_sec
Q5K6N5
resolver
uniprot_sec
Q8N6Q9
resolver
uniprot_sec
Q8NDS6
resolver
uniprot_sec
Q8TE84
resolver
amino_acid_sequence
MAEAHQAVGFRPSLTSDGAEVELSAPVLQEIYLSGLRSWKRHLSRFWNDFLTGVFPASPLSWLFLFSAIQLAWFLQLDPSLGLMEKIKELLPDWGGQHHGLRGVLAAALFASCLWGALIFTLHVALRLLLSYHGWLLEPHGAMSSPTKTWLALVRIFSGRHPMLFSYQRSLPRQPVPSVQDTVRKYLESVRPILSDEDFDWTAVLAQEFLRLQASLLQWYLRLKSWWASNYVSDWWEEFVYLRSRNPLMVNSNYYMMDFLYVTPTPLQAARAGNAVHALLLYRHRLNRQEIPPTLLMGMRPLCSAQYEKIFNTTRIPGVQKDYIRHLHDSQHVAVFHRGRFFRMGTHSRNSLLSPRALEQQFQRILDDPSPACPHEEHLAALTAAPRGTWAQVRTSLKTQAAEALEAVEGAAFFVSLDAEPAGLTREDPAASLDAYAHALLAGRGHDRWFDKSFTLIVFSNGKLGLSVEHSWADCPISGHMWEFTLATECFQLGYSTDGHCKGHPDPTLPQPQRLQWDLPDQIHSSISLALRGAKILSENVDCHVVPFSLFGKSFIRRCHLSSDSFIQIALQLAHFRDRGQFCLTYESAMTRLFLEGRTETVRSCTREACNFVRAMEDKEKTDPQCLALFRVAVDKHQALLKAAMSGQGVDRHLFALYIVSRFLHLQSPFLTQVHSEQWQLSTSQIPVQQMHLFDVHNYPDYVSSGGGFGPADDHGYGVSYIFMGDGMITFHISSKKSSTKTDSHRLGQHIEDALLDVASLFQAGQHFKRRFRGSGKENSRHRCGFLSRQTGASKASMTSTDF
uniprot
proteins
disease_involvement
DISEASE: Spastic paraplegia 73, autosomal dominant (SPG73) [MIM:616282]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. {ECO:0000269|PubMed:25751282}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.1.2.22
uniprot
proteins
function
FUNCTION: Palmitoyl thioesterase specifically expressed in the endoplasmic reticulum of neurons. Modulates the trafficking of the glutamate receptor, AMPAR, to plasma membrane through depalmitoylation of GRIA1 (PubMed:30135643). Also regulates AMPR trafficking through the regulation of SACM1L phosphatidylinositol-3-phosphatase activity by interaction in a malonyl-CoA dependent manner (By similarity). Binds malonyl-CoA and couples malonyl-CoA to ceramide levels, necessary for proper spine maturation and contributing to systemic energy homeostasis and appetite control (PubMed:16651524). Binds to palmitoyl-CoA, but does not have carnitine palmitoyltransferase 1 catalytic activity or at very low levels (PubMed:25751282, PubMed:30135643). {ECO:0000250|UniProtKB:Q8BGD5, ECO:0000269|PubMed:16651524, ECO:0000269|PubMed:25751282, ECO:0000269|PubMed:30135643}.
uniprot
proteins
mass_dalton
90989
uniprot
proteins
mutagenesis
MUTAGEN 252; /note="S->A: Loss of palmitoyl thioesterase activity."; /evidence="ECO:0000269|PubMed:30135643"; MUTAGEN 470; /note="H->A: Loss of palmitoyl thioesterase activity. No effect on carnitine O-palmitoyltransferase inactivity."; /evidence="ECO:0000269|PubMed:16651524, ECO:0000269|PubMed:30135643"; MUTAGEN 474; /note="D->A: Loss of palmitoyl thioesterase activity."; /evidence="ECO:0000269|PubMed:30135643
uniprot
proteins
protein_family
Carnitine/choline acetyltransferase family
uniprot
proteins
pubmed
12376098
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16651524
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
24037959
uniprot
proteins
pubmed
25751282
uniprot
proteins
pubmed
25961183
uniprot
proteins
pubmed
26708865
uniprot
proteins
pubmed
30135643
uniprot
proteins
sequence_length
803
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell projection, dendrite {ECO:0000269|PubMed:25751282}. Cell projection, axon {ECO:0000269|PubMed:25751282}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:30135643}; Multi-pass membrane protein {ECO:0000255}. Note=Localized in the soma and dendritic and axonal projections. {ECO:0000269|PubMed:25751282}.
uniprot
proteins
transmembrane_region
TRANSMEM 53..75; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 104..126; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins