1. Gene
  2. CKMT1B - creatine kinase, mitochondrial 1B Gene

CKMT1B - creatine kinase, mitochondrial 1B Gene

中文名称:肌酸激酶,线粒体 1B

种属: Homo sapiens

同用名: CKMT; CKMT1; UMTCK

基因 ID: 1159 | 基因类型: protein coding

关于 CKMT1B

Cytogenetic location: 15q15.3 Genomic coordinates (GRCh38): 15:43,592,857-43,599,406 (from NCBI)

This gene has 15 transcripts (splice variants), 217 orthologues and 4 paralogues. Biased expression in colon (RPKM 40.9), duodenum (RPKM 39.5) and 13 other tissues.

功能概要

线粒体肌酸 (MtCK) 激酶负责将高能磷酸盐从线粒体转移到胞质载体肌酸。它属于肌酸激酶同工酶家族。它以两种同工酶形式存在,即肌节 MtCK 和普遍存在的 MtCK,由不同的基因编码。线粒体肌酸激酶以两种不同的寡聚形式存在:二聚体和八聚体,与完全二聚的胞质肌酸激酶同工酶形成对比。许多预后不良的恶性癌症都表现出普遍存在的线粒体肌酸激酶的过度表达;这可能与高能量转换和未能通过细胞凋亡消除癌细胞有关。普遍存在的线粒体肌酸激酶与肌节线粒体肌酸激酶的编码外显子具有 80% 的同源性。已鉴定出位于 15 号染色体上彼此靠近的两个基因,它们编码相同的线粒体肌酸激酶蛋白。[RefSeq 提供,2008 年 7 月]

Mitochondrial creatine (MtCK) kinase is responsible for the transfer of high energy phosphate from mitochondria to the cytosolic carrier, creatine. It belongs to the creatine kinase isoenzyme family. It exists as two isoenzymes, sarcomeric MtCK and ubiquitous MtCK, encoded by separate genes. Mitochondrial creatine kinase occurs in two different oligomeric forms: dimers and octamers, in contrast to the exclusively dimeric cytosolic creatine kinase isoenzymes. Many malignant cancers with poor prognosis have shown overexpression of ubiquitous mitochondrial creatine kinase; this may be related to high energy turnover and failure to eliminate Cancer cells via Apoptosis. Ubiquitous mitochondrial creatine kinase has 80% homology with the coding exons of sarcomeric mitochondrial creatine kinase. Two genes located near each other on chromosome 15 have been identified which encode identical mitochondrial creatine kinase proteins. [provided by RefSeq, Jul 2008]

CKMT1B 基因产物(2)

mRNA Protein Name
NM_001375484.1 NP_001362413.1 creatine kinase U-type, mitochondrial precursor
NM_020990.5 NP_066270.1 creatine kinase U-type, mitochondrial precursor
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 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

CKMT1B 蛋白结构

ATP-gua_PtransN

ATP-gua_PtransN: ATP:guanido phosphotransferase, N-terminal domain (54 - 133)

ATP-gua_Ptrans

ATP-gua_Ptrans: ATP:guanido phosphotransferase, C-terminal catalytic domain (155 - 400)

  • 0
  • 100
  • 200
  • 300
  • 417 a.a.
蛋白主名 其他名称

creatine kinase U-type, mitochondrial

U-MtCK

重组 CKMT1B 蛋白

目录号 产品名 蛋白编号 纯度
HY-P76264 CKMT1A Protein, Human (sf9, His) P12532 (A40-H417) ≥95%

关联疾病

疾病名称 别名
Mitochondrial Complex V Deficiency, Nuclear Type 3

Mitochondrial Complex Iii Deficiency Nuclear Type 5

MC5DN3

Mitochondrial Complex Iii Deficiency, Nuclear Type 5

Mitochondrial Complex V Deficiency Nuclear Type 3

MC3DN5

Mitochondrial Complex V Deficiency, Atp5e Type

Mitochondrial Complex Iii Deficiency, Nuclear 5

Mitochondrial Complex V Deficiency, Nuclear Type 3

Mitochondrial Complex V Deficiency Atp5e Type

Mitochondrial Complex V Deficiency Type 3

Mitochondrial Complex V Deficiency, Nuclear, Type 3

Cardiomyopathy, Dilated, 1ee

Dilated Cardiomyopathy 1ee

CMD1EE

Cardiomyopathy, Dilated 1ee

Cardiomyopathy, Dilated, Type 1ee

Cerebral Creatine Deficiency Syndrome

Deficiency, Cerebral Creatine, Syndrome

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
Mus musculus CKMT1B MGD MGI:99441
Rattus norvegicus CKMT1B RGD RGD:61976