GediPNet logo

CPT1C (carnitine palmitoyltransferase 1C)
Gene
Gene SNPs Other IDs
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
126129
Gene nameGene Name - the full gene name approved by the HGNC.
Carnitine palmitoyltransferase 1C
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
CPT1C
SynonymsGene synonyms aliases
CATL1, CPT1-B, CPT1P, CPTI-B, CPTIC, SPG73
ChromosomeChromosome number
19
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19q13.33
SummarySummary 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-body energy homeostasis. Alternatively spliced transcript variants encoding multiple protein isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]
SNPsSNP information provided by dbSNP.
Gene SNPs Other IDs
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
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs Other IDs
miRTarBase ID miRNA Experiments Reference
MIRT040222 hsa-miR-615-3p CLASH 23622248
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Other IDs
GO ID Ontology Definition Evidence Reference
GO:0004095 Function Carnitine O-palmitoyltransferase activity IBA 21873635
GO:0005515 Function Protein binding IPI 25751282
GO:0005739 Component Mitochondrion IBA 21873635
GO:0005741 Component Mitochondrial outer membrane IEA
GO:0005783 Component Endoplasmic reticulum ISS
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Other IDs
MIM
HGNC
e!Ensembl
Protein
Gene SNPs Other IDs
UniProt ID Q8TCG5
Protein name Carnitine O-palmitoyltransferase 1, brain isoform (CPT1-B) (EC 2.3.1.21) (CPT IC) (Carnitine O-palmitoyltransferase I, brain isoform) (CPTI-B) (Carnitine palmitoyltransferase 1C)
Protein function May play a role in lipid metabolic process.
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
Sequence 
MAEAHQAVGFRPSLTSDGAEVELSAPVLQEIYLSGLRSWKRHLSRFWNDFLTGVFPASPL
SWLFLFSAIQLAWFLQLDPSLGLMEKIKELLPDWGGQHHGLRGVLAAALFASCLWGALIF
TLHVALRLLLSYHGWLLEPHGAMSSPTKTWLALVRIFSGRHPMLFSYQRSLPRQPVPSVQ
DTVRKYLESVRPILSDEDFDWTAVLAQEFLRLQASLLQWYLRLKSWWASNYVSDWWEEFV
YLRSRNPLMVNSNYYMMDFLYVTPTPLQAARAGNAVHALLLYRHRLNRQEIPPTLLMGMR
PLCSAQYEKIFNTTRIPGVQKDYIRHLHDSQHVAVFHRGRFFRMGTHSRNSLLSPRALEQ
QFQRILDDPSPACPHEEHLAALTAAPRGTWAQVRTSLKTQAAEALEAVEGAAFFVSLDAE
PAGLTREDPAASLDAYAHALLAGRGHDRWFDKSFTLIVFSNGKLGLSVEHSWADCPISGH
MWEFTLATECFQLGYSTDGHCKGHPDPTLPQPQRLQWDLPDQIHSSISLALRGAKILSEN
VDCHVVPFSLFGKSFIRRCHLSSDSFIQIALQLAHFRDRGQFCLTYESAMTRLFLEGRTE
TVRSCTREACNFVRAMEDKEKTDPQCLALFRVAVDKHQALLKAAMSGQGVDRHLFALYIV
SRFLHLQSPFLTQVHSEQWQLSTSQIPVQQMHLFDVHNYPDYVSSGGGFGPADDHGYGVS
YIFMGDGMITFHISSKKSSTKTDSHRLGQHIEDALLDVASLFQAGQHFKRRFRGSGKENS
RHRCGFLSRQTGASKASMTSTDF
Sequence length 803
Interactions View interactions

| © 2021, Biomedical Informatics Centre, NIRRH |
ICMR-National Institute for Research in Reproductive Health, Jehangir Merwanji Street, Parel, Mumbai-400012
Tel: +91-22-24192104, Fax No: +91-22-24139412