CPT1C (carnitine palmitoyltransferase 1C)

Gene
Gene SNPs Other IDs Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
126129
Gene name Gene Name - the full gene name approved by the HGNC.
Carnitine palmitoyltransferase 1C
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CPT1C
Synonyms (NCBI Gene) Gene synonyms aliases
CATL1, CPT I-C, CPT1-B, CPT1P, CPTI-B, CPTIC, SPG73
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19q13.33
Summary Summary of gene provided in NCBI Entrez 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-b
SNPs SNP information provided by dbSNP.
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.
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 assay, qRT-PCR, Western blotting 32641987
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Other IDs Associated diseases
MIM HGNC e!Ensembl
608846 18540 ENSG00000169169
Protein
Gene SNPs Other IDs Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs Other IDs Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Hereditary spastic paraplegia Hereditary spastic paraplegia 73 rs786204767 N/A
Show/Hide Unknown Diseases (3)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Gout Gout N/A N/A GWAS
Hypothyroidism Hypothyroidism N/A N/A GWAS
Panic Disorder Panic disorder N/A N/A GWAS
Show/Hide Text Mining Associations (10)
Associations from Text Mining Disease 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