CPT1C - carnitine palmitoyltransferase 1C Gene
Also Known as CATL1; CPT1P; CPTIC; SPG73; CPT1-B; CPTI-B
Species: Homo sapiens
About CPT1C
This gene has 24 transcripts (splice variants), 249 orthologues, 6 paralogues and is associated with 2 phenotypes. Biased expression in brain (RPKM 10.7), endometrium (RPKM 2.3) and 9 other tissues.
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-body energy homeostasis. Alternatively spliced transcript variants encoding multiple protein isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]
CPT1C Products (11)
| mRNA | Protein | Name |
|---|---|---|
| NM_001136052.3 | NP_001129524.1 | carnitine O-palmitoyltransferase 1, brain isoform isoform 1 |
| NM_001199752.3 | NP_001186681.1 | carnitine O-palmitoyltransferase 1, brain isoform isoform 2 |
| NM_001199753.2 | NP_001186682.1 | carnitine O-palmitoyltransferase 1, brain isoform isoform 2 |
| NM_001378482.1 | NP_001365411.1 | carnitine O-palmitoyltransferase 1, brain isoform isoform 4 |
| NM_001378483.1 | NP_001365412.1 | carnitine O-palmitoyltransferase 1, brain isoform isoform 2 |
| NM_001378484.1 | NP_001365413.1 | carnitine O-palmitoyltransferase 1, brain isoform isoform 2 |
| NM_001378485.1 | NP_001365414.1 | carnitine O-palmitoyltransferase 1, brain isoform isoform 1 |
| NM_001378486.1 | NP_001365415.1 | carnitine O-palmitoyltransferase 1, brain isoform isoform 5 |
| NM_001378487.1 | NP_001365416.1 | carnitine O-palmitoyltransferase 1, brain isoform isoform 6 |
| NM_001378488.1 | NP_001365417.1 | carnitine O-palmitoyltransferase 1, brain isoform isoform 5 |
| NM_152359.3 | NP_689572.1 | carnitine O-palmitoyltransferase 1, brain isoform isoform 2 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables palmitoyl-(protein) hydrolase activity |
IDA
IDA: Inferred from direct assay
|
30135643 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
25751282 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in endoplasmic reticulum |
IDA
IDA: Inferred from direct assay
|
30135643 | GOA |
CPT1C Protein Structure
Carn_acyltransf: Choline/Carnitine o-acyltransferase (170 - 759)
- 0
- 200
- 400
- 600
- 803 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
carnitine O-palmitoyltransferase 1, brain isoform |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Spastic Paraplegia 73, Autosomal Dominant |
|
|
| Monieziasis |
|
|
| Carnitine Palmitoyltransferase I Deficiency |
|
|
| Hereditary Spastic Paraplegia |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Canis familiaris | CPT1C | VGNC | VGNC:39581 |
| Rattus norvegicus | CPT1C | RGD | RGD:1305384 |
| Mus musculus | CPT1C | MGD | MGI:2446526 |
| Felis catus | CPT1C | VGNC | VGNC:61148 |
| Macaca mulatta | CPT1C | VGNC | VGNC:109608 |
| Bos taurus | CPT1C | VGNC | VGNC:27678 |
| Others | CPT1C | NCBI |