CPT1C - carnitine palmitoyltransferase 1C Gene

Homo sapiens

Also known as CATL1; CPT1P; CPTIC; SPG73; CPT1-B; CPTI-B

Gene ID: 126129 | Gene type: protein coding

About CPT1C

Cytogenetic location: 19q13.33 Genomic coordinates (GRCh38): 19:49,690,662-49,713,731 (from NCBI)

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

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	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	Reference	Source
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	30135643	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CPT1C Protein Structure

Carn_acyltransf

0
200
400
600
803 a.a.

Protein Preferred Names

Protein Names

carnitine O-palmitoyltransferase 1, brain isoform

carnitine palmitoyltransferase I related C

Related Diseases

Diseases

Alias

Spastic Paraplegia 73, Autosomal Dominant

SPG73	Hereditary Spastic Paraplegia 73
Autosomal Dominant Spastic Paraplegia Type 73	Autosomal Dominant Spastic Paraplegia 73
Paraplegia, Spastic, Autosomal Dominant, Type 73

Monieziasis

Carnitine Palmitoyltransferase I Deficiency

Carnitine Palmitoyl Transferase 1a Deficiency	Cpt1a Deficiency
Cpt I Deficiency	Carnitine Palmitoyl Transferase Ia Deficiency
Hepatic Carnitine Palmitoyl Transferase 1 Deficiency	Hepatic Carnitine Palmitoyl Transferase I Deficiency
L-Cpt1 Deficiency	Carnitine Palmitoyltransferase 1a Deficiency
Carnitine Palmitoyltransferase Ia Deficiency	Cpt Deficiency, Hepatic, Type I
Cpt Deficiency, Hepatic, Type Ia	Hepatic Carnitine Palmitoyltransferase 1 Deficiency
L-Cpti Deficiency	Hepatic Cpt Deficiency Type I
Hepatic Cpt1	L-Cpt 1 Deficiency
Cpt 1a Deficiency	Liver Form Of Carnitine Palmitoyltransferase Deficiency
CPT1AD	Cpt-I Deficiency

Hereditary Spastic Paraplegia

Familial Spastic Paraplegia	Hereditary Spastic Paraparesis
Strumpell-Lorrain Disease	Familial Spastic Paraparesis
Hsp	Spg
Strümpell-Lorrain Disease	Spastic Paraplegia, Hereditary
French Settlement Disease	Strumpell-Lorrain Syndrome
Fsp	Spastic Paraplegia, Familial
Spastic Paraplegia Hereditary	Spastic Paraplegia 3, Autosomal Dominant
Spastic Paraparesis	Hereditary Spastic Paralysis
Familial Spastic Paralysis	Hereditary Spastic Ataxia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03124	CPT1C Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

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

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