carnitine palmitoyltransferase 1C

Summary
Gene Symbol
  • CPT1C
Aliases
  • CATL1
  • CPT1P
  • CPTIC
  • FLJ23809
Organism
Homo sapiens (human)
NCBI Gene
126129
HGNC
18540
KEGG Gene ID
hsa:126129
PubChem
126129
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Acyltransferase
  • Alternative splicing
  • Cell projection
  • Disease variant
  • Endoplasmic reticulum
  • Fatty acid metabolism
  • Hereditary spastic paraplegia
  • Hydrolase
  • Proteomics identification
  • Reference proteome
  • Transmembrane helix
Proteins
Displaying all 2 entries
UniProt Protein Name
B3KU49
  • Carnitine O-palmitoyltransferase 1, brain isoform
  • Carnitine palmitoyltransferase 1C
  • Carnitine palmitoyltransferase I
Q8TCG5
  • Carnitine O-palmitoyltransferase 1, brain isoform
  • Carnitine palmitoyltransferase 1C
  • Carnitine palmitoyltransferase I
Gene Ontology (GO)
GO Hierarchy
GO Hierarchy
OrthoDB (Group)
KEGG BRITE Database
Orthology
K19524
Name
carnitine O-palmitoyltransferase 1, brain isoform [EC:2.3.1.21]
References
Disease
Disease Ontology
Displaying 1 entry
DO ID Disease Name Source
DOID:0110818 hereditary spastic paraplegia 73
The Human Phenotype Ontology
Displaying entries 1 - 10 of 26 in total
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
OMIM:616282
  • hereditary spastic paraplegia 73
ORPHA:444099
  • hereditary spastic paraplegia 73
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP002438
Gene Name
carnitine palmitoyltransferase 1C

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 8, 2025