1. Gene
  2. CLYBL - citramalyl-CoA lyase Gene

CLYBL - citramalyl-CoA lyase Gene

中文名称:柠甲基辅酶 A 裂解酶

种属: Homo sapiens

同用名: CLB

基因 ID: 171425 | 基因类型: protein coding

关于 CLYBL

Cytogenetic location: 13q32.3 Genomic coordinates (GRCh38): 13:99,606,690-99,909,444 (from NCBI)

This gene has 9 transcripts (splice variants) and 196 orthologues. Broad expression in kidney (RPKM 2.9), liver (RPKM 2.6) and 22 other tissues.

功能概要

启用 (S) -citramalyl-CoA 裂解酶活性;镁离子结合活性;和苹果酸合酶活性。参与蛋白质同源三聚化和钴胺素代谢过程的调节。预测位于线粒体中。预计是膜的组成部分。 [由基因组资源联盟提供,2022 年 4 月]

Enables (S)-citramalyl-CoA lyase activity; magnesium ion binding activity; and malate synthase activity. Involved in protein homotrimerization and regulation of cobalamin metabolic process. Predicted to be located in mitochondrion. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]

CLYBL 基因产物(9)

mRNA Protein Name
NM_001393355.1 NP_001380284.1 citramalyl-CoA lyase, mitochondrial isoform 2 precursor
NM_001393356.1 NP_001380285.1 citramalyl-CoA lyase, mitochondrial isoform 1 precursor
NM_001393357.1 NP_001380286.1 citramalyl-CoA lyase, mitochondrial isoform 1 precursor
NM_001393358.1 NP_001380287.1 citramalyl-CoA lyase, mitochondrial isoform 1 precursor
NM_001393359.2 NP_001380288.1 citramalyl-CoA lyase, mitochondrial isoform 1 precursor
NM_001393360.1 NP_001380289.1 citramalyl-CoA lyase, mitochondrial isoform 2 precursor
NM_001393361.1 NP_001380290.1 citramalyl-CoA lyase, mitochondrial isoform 2 precursor
NM_001393362.1 NP_001380291.1 citramalyl-CoA lyase, mitochondrial isoform 2 precursor
NM_206808.5 NP_996531.1 citramalyl-CoA lyase, mitochondrial isoform 1 precursor
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables (S)-citramalyl-CoA lyase activity IDA
IDA: 通过直接分析推断
29056341 GOA
enables magnesium ion binding IDA
IDA: 通过直接分析推断
24334609 GOA
enables malate synthase activity IDA
IDA: 通过直接分析推断
24334609 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in protein homotrimerization IDA
IDA: 通过直接分析推断
29056341 GOA
involved in regulation of cobalamin metabolic process IDA
IDA: 通过直接分析推断
29056341 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

CLYBL 蛋白结构

HpcH_HpaI

HpcH_HpaI: HpcH/HpaI aldolase/citrate lyase family (46 - 274)

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

citramalyl-CoA lyase, mitochondrial

(3S)-malyl-CoA thioesterase

关联疾病

疾病名称 别名
Tinea Profunda

Deep Seated Dermatophytosis

Granuloma Trichophyticum

Majocchi'S Granuloma

Tinea Barbae

Dermatophytosis Of Beard

Penicilliosis
Peroxisomal Biogenesis Disorder

Zellweger Spectrum Disorders

Peroxisome Biogenesis Disorder-Zellweger Syndrome Spectrum

Disorders Of Peroxisome Biogenesis

Zellweger Spectrum

Zellweger Syndrome Spectrum

Peroxisomal Biogenesis Disorders

Pbd, Zss

Pbd-Zsd

Pbd-Zss

Pbd-Zellweger Spectrum Disorder

Peroxisomal Biogenesis Disorders, Zellweger Syndrome Spectrum

Peroxisome Biogenesis Disorder

Peroxisome Biogenesis Disorder Spectrum

Peroxisome Biogenesis Disorders

Zellweger Spectrum Disorder

Hyperpipecolic Acidaemia

Zellweger Syndrome

Cerebrohepatorenal Syndrome

Zellweger Leukodystrophy

Zs

Congenital Iron Overload

Chr

Zws

Severe Pbd-Zsd

Severe Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder

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
Felis catus CLYBL VGNC VGNC:60992
Mus musculus CLYBL MGD MGI:1916884
Rattus norvegicus CLYBL RGD RGD:1304615
Canis familiaris CLYBL VGNC VGNC:39374
Macaca mulatta CLYBL VGNC VGNC:71202
Bos taurus CLYBL VGNC VGNC:27475