2. Gene
  3. GCAT - glycine C-acetyltransferase Gene

GCAT - glycine C-acetyltransferase Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：甘氨酸 C-乙酰转移酶

种属: Homo sapiens

同用名: KBL

基因 ID: 23464 | 基因类型: protein coding

关于 GCAT

Cytogenetic location: 22q13.1 Genomic coordinates (GRCh38): 22:37,807,934-37,817,183 (from NCBI)

This gene has 7 transcripts (splice variants), 209 orthologues and 5 paralogues. Ubiquitous expression in pancreas (RPKM 12.0), prostate (RPKM 8.4) and 24 other tissues.

功能概要

L-苏氨酸向甘氨酸的降解由两步生化途径组成，涉及酶 L-苏氨酸脱氢酶和 2-氨基-3-酮丁酸辅酶 A 连接酶。 L-苏氨酸首先被 L-苏氨酸脱氢酶转化为 2-amino-3-ketobutyrate。该基因编码该途径中的第二种酶，然后催化 2-amino-3-ketobutyrate 和辅酶 A 之间的反应，形成甘氨酸和乙酰辅酶 A。编码的酶被认为是 II 类磷酸吡哆醛依赖性氨基转移酶。交替剪接导致多个转录本变体。在 14 号染色体上发现了该基因的假基因。[RefSeq 提供，2010 年 1 月]

The degradation of L-threonine to glycine consists of a two-step biochemical pathway involving the Enzymes L-threonine dehydrogenase and 2-amino-3-ketobutyrate coenzyme A Ligase. L-Threonine is first converted into 2-amino-3-ketobutyrate by L-threonine dehydrogenase. This gene encodes the second enzyme in this pathway, which then catalyzes the reaction between 2-amino-3-ketobutyrate and coenzyme A to form glycine and acetyl-CoA. The encoded enzyme is considered a class II pyridoxal-phosphate-dependent aminotransferase. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 14. [provided by RefSeq, Jan 2010]

GCAT 基因产物(2)

mRNA Protein Name
NM_001171690.2 NP_001165161.1 2-amino-3-ketobutyrate coenzyme A ligase, mitochondrial isoform 1 precursor
NM_014291.4 NP_055106.1 2-amino-3-ketobutyrate coenzyme A ligase, mitochondrial isoform 2 precursor
基因本体论
  • 细胞组分
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in nucleus IDA
IDA: 通过直接分析推断
17688197 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

GCAT 蛋白结构

Aminotran_1_2

Aminotran_1_2: Aminotransferase class I and II (67 - 408)

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

2-amino-3-ketobutyrate coenzyme A ligase, mitochondrial

2-amino-3-ketobutyrate-CoA ligase

关联疾病

疾病名称 别名
Retroperitoneum Carcinoma

Retroperitoneal Cancer

Malignant Neoplasm Of Retroperitoneum And Peritoneum

Retroperitoneal Neoplasms

Carcinoma Of Retroperitoneum

Carcinoma Of The Retroperitoneum

Malignant Neoplasm Of Retroperitoneum

Malignant Retroperitoneal Cancer

Malignant Tumor Of Peritoneum And Retroperitoneum

Neoplasm Of Retroperitoneum

Neoplasm Of The Retroperitoneum

Retroperitoneal Neoplasm

Tumor Of Retroperitoneum

Malignant Retroperitoneal Tumour

Primary Malignant Neoplasm Of Retroperitoneum

Retroperitoneum Cancer
Mononeuritis Of Lower Limb
Phosphoserine Aminotransferase Deficiency

Psat Deficiency

PSATD

Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form

Psat Deficiency, Infantile/Juvenile Form

Deficiency, Phosphoserine Aminotransferase
Muscular Dystrophy-Dystroglycanopathy , Type C, 9

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2p

Lgmd2p

MDDGC9

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 16

Lgmdr16

Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Dag1-Related

Muscular Dystrophy, Limb-Girdle, Type 2p

Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Dag1-Related

Muscular Dystrophy-Dystroglycanopathy Type C9

Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16

Alpha-Dystroglycan-Related Lgmd R16

Lgmd Type 2p

Limb-Girdle Muscular Dystrophy Type 2p

Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C9

Muscular Dystrophy Limb-Girdle Type 2p

Dystrophy, Muscular, Limb-Girdle, Type 2p
Transposition Of The Great Arteries, Dextro-Looped

Transposition Of The Great Arteries

DTGA1

Dextro-Looped Transposition Of The Great Arteries

DTGA

Congenitally Uncorrected Transposition Of The Great Arteries

Congenitally Uncorrected Transposition Of The Great Vessels

D-Tga

Isolated Ventriculoarterial Discordance

Ventriculoarterial Discordance With Atrioventricular Concordance

Dextro-Transposition Of The Great Arteries

Transposition Of The Great Vessels

Great Vessels Transposition

Transposition Of The Great Arteries, Dextro-Looped 1

Arteries, Great, Transposition, Dextro-Looped

Ventriculoarterial Discordance, Isolated

D-Transposition Of The Great Arteries

Complete Transposition

Tga

Tgv

Transposition Of Great Vessels

Transposition Of The Great Arteries Dextro-Looped 1

Dextro-Looped Transposition Of The Great Arteries 1

Discordant Ventriculoarterial Connection

Complete Transposition Of Great Vessels

Great Vessels Complete Transposition

Total Great Vessel Transposition

Transposition Of Great Arteries

Complete Tga - [Transposition Of The Great Arteries]

Tga - [Transposition Of Great Arteries]

Tgv - [Transposition Of Great Vessels]

Transposition Of Great Vessels Nos

Transposed Vessels Nos
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

相关产品

Clinical Phase
生物活性分子 (2)
目录号 产品名 作用方式
纯度 Phase
HY-142118 Trabedersen Inhibitor 90.45% Phase 3
HY-145728 Alicaforsen Inhibitor / Phase 3
Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS05318 GCAT Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Canis familiaris GCAT VGNC VGNC:41138
Macaca mulatta GCAT VGNC VGNC:84913
Rattus norvegicus GCAT RGD RGD:1307291
Felis catus GCAT VGNC VGNC:62486
Bos taurus GCAT VGNC VGNC:29279
Mus musculus GCAT MGD MGI:1349389
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