CPT1C - carnitine palmitoyltransferase 1C Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 126129

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
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
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

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

  • 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

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