CPT1C (carnitine palmitoyltransferase 1C)

Gene Gene information from NCBI Gene database.
Gene SNPs Other IDs Associated diseases
Entrez ID 126129
Gene name Carnitine palmitoyltransferase 1C
Gene symbol CPT1C
Synonyms (NCBI Gene)
CATL1CPT I-CCPT1-BCPT1PCPTI-BCPTICSPG73
Chromosome 19
Chromosome location 19q13.33
Summary 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-b
SNPs SNP information provided by dbSNP.
2
Gene SNPs Other IDs Associated diseases
Show/Hide all (2)
SNP ID Visualize variation Clinical significance Consequence
rs786204767 C>T Pathogenic Missense variant, 5 prime UTR variant, coding sequence variant, non coding transcript variant
rs1486248764 G>A,T Likely-pathogenic Non coding transcript variant, coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
2
Gene SNPs Other IDs Associated diseases
Show/Hide all (2)
miRTarBase ID miRNA Experiments Reference
MIRT040222 hsa-miR-615-3p CLASH 23622248
MIRT734074 hsa-miR-1291 Immunohistochemistry (IHC)Immunoprecipitaion (IP)Luciferase reporter assayqRT-PCRWestern blotting 32641987
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
31
Gene SNPs Other IDs Associated diseases
Show/Hide all (31)
GO ID Ontology Definition Evidence Reference
GO:0003824 Function Catalytic activity IEA
GO:0004095 Function Carnitine O-palmitoyltransferase activity ISS
GO:0005515 Function Protein binding IPI 25751282
GO:0005739 Component Mitochondrion ISS
GO:0005783 Component Endoplasmic reticulum IDA 30135643
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Other IDs Associated diseases
MIM HGNC e!Ensembl
608846 18540 ENSG00000169169
Protein Protein information from UniProt database.
Gene SNPs Other IDs Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8TCG5
Protein name Palmitoyl thioesterase CPT1C (EC 3.1.2.22) (Carnitine O-palmitoyltransferase 1, brain isoform) (CPTI-B) (Carnitine palmitoyltransferase 1C) (Carnitine palmitoyltransferase I) (CPT I-C)
Protein 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 traffi
PDB 2M76
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16484 CPT_N 1 → 47 Carnitine O-palmitoyltransferase N-terminus Domain
PF00755 Carn_acyltransf 171 → 759 Choline/Carnitine o-acyltransferase Family
Tissue specificity TISSUE SPECIFICITY: Expressed predominantly in brain and testis. Expressed in motor neurons. {ECO:0000269|PubMed:12376098, ECO:0000269|PubMed:25751282}.
Sequence 
MAEAHQAVGFRPSLTSDGAEVELSAPVLQEIYLSGLRSWKRHLSRFWNDFLTGVFPASPL
SWLFLFSAIQLAWFLQLDPSLGLMEKIKELLPDWGGQHHGLRGVLAAALFASCLWGALIF
TLHVALRLLLSYHGWLLEPHGAMSSPTKTWLALVRIFSGRHPMLFSYQRSLPRQPVPSVQ
DTVRKYLESVRPILSDEDFDWTAVLAQEFLRLQASLLQWYLRLKSWWASNYVSDWWEEFV
YLRSRNPLMVNSNYYMMDFLYVTPTPLQAARAGNAVHALLLYRHRLNRQEIPPTLLMGMR
PLCSAQYEKIFNTTRIPGVQKDYIRHLHDSQHVAVFHRGRFFRMGTHSRNSLLSPRALEQ
QFQRILDDPSPACPHEEHLAALTAAPRGTWAQVRTSLKTQAAEALEAVEGAAFFVSLDAE
PAGLTREDPAASLDAYAHALLAGRGHDRWFDKSFTLIVFSNGKLGLSVEHSWADCPISGH
MWEFTLATECFQLGYSTDGHCKGHPDPTLPQPQRLQWDLPDQIHSSISLALRGAKILSEN
VDCHVVPFSLFGKSFIRRCHLSSDSFIQIALQLAHFRDRGQFCLTYESAMTRLFLEGRTE
TVRSCTREACNFVRAMEDKEKTDPQCLALFRVAVDKHQALLKAAMSGQGVDRHLFALYIV
SRFLHLQSPFLTQVHSEQWQLSTSQIPVQQMHLFDVHNYPDYVSSGGGFGPADDHGYGVS
YIFMGDGMITFHISSKKSSTKTDSHRLGQHIEDALLDVASLFQAGQHFKRRFRGSGKENS
RHRCGFLSRQTGASKASMTSTDF
Sequence length 803
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
289
Gene SNPs Other IDs Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Hereditary spastic paraplegia 73 Pathogenic; Likely pathogenic rs780195851, rs1568547326, rs786204767, rs2514088767, rs1186386364, rs748659009, rs1447368316, rs767517922, rs2514147270, rs566644989, rs751933977 RCV001942228
RCV001967506
RCV000169633
RCV002612089
RCV002876785
RCV003005274
RCV003590909
RCV003588420
RCV003752029
RCV003887842
RCV001256201
Show/Hide Unknown Diseases (4)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CPT1C-related disorder Benign; Uncertain significance; Likely benign; Conflicting classifications of pathogenicity rs150853576, rs758918714, rs549984351, rs145807606, rs775373311, rs376737655, rs143478074, rs150291550, rs181225621, rs200190780, rs140411644, rs144205321 RCV003966051
RCV003391401
RCV003929279
RCV003956479
RCV003943944
RCV003949551
RCV003925727
RCV003937993
RCV003937994
RCV003907915
RCV003975472
RCV003965768
Hereditary spastic paraplegia Uncertain significance rs775816343, rs150853576 RCV005358086
RCV005357870
Lung cancer Uncertain significance rs143361095 RCV005932456
Spastic paraplegia Uncertain significance rs2123423148, rs757561909 RCV001391416
RCV001391415
Show/Hide Text Mining Associations (10)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 36674468
Colorectal Neoplasms Associate 37078750
Glioblastoma Associate 24618825
Glomerulonephritis Membranous Associate 36674468
Mitochondrial Diseases Associate 30070697
Neoplasm Metastasis Associate 37078750
Neoplasms Associate 26725848, 27189278, 30070697, 36674468
Spastic Paraplegia Hereditary Associate 30911584, 36109173
Takotsubo Cardiomyopathy Associate 28818208
Urinary Bladder Neoplasms Inhibit 27189278