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  2. CPT1C - carnitine palmitoyltransferase 1C Gene

CPT1C - carnitine palmitoyltransferase 1C Gene

中文名称:肉碱棕榈酰转移酶 1C

种属: Homo sapiens

同用名: CATL1; CPT1P; CPTIC; SPG73; CPT1-B; CPTI-B

基因 ID: 126129 | 基因类型: protein coding

关于 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.

功能概要

该基因编码肉毒碱/胆碱乙酰转移酶家族的成员。编码的蛋白质调节 β-氧化和长链脂肪酸向线粒体的转运,并可能在摄食行为和全身能量稳态的调节中发挥作用。已经观察到该基因编码多种蛋白质同种型的可变剪接转录物变体。[RefSeq 提供,2010 年 12 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables palmitoyl-(protein) hydrolase activity IDA
IDA: 通过直接分析推断
30135643 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
25751282 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in endoplasmic reticulum IDA
IDA: 通过直接分析推断
30135643 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

CPT1C 蛋白结构

Carn_acyltransf

Carn_acyltransf: Choline/Carnitine o-acyltransferase (170 - 759)

  • 0
  • 200
  • 400
  • 600
  • 803 a.a.
蛋白主名 其他名称

carnitine O-palmitoyltransferase 1, brain isoform

carnitine palmitoyltransferase I related C

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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