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

GCAT - glycine C-acetyltransferase Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as KBL

Gene ID: 23464 | Gene type: protein coding

About 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.

Summary

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 Products(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
Gene Ontology
  • Cellular Component
Cellular Component GO Annotation Evidence Reference Source
located in nucleus IDA
IDA: Inferred from direct assay
17688197 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

GCAT Protein Structure

Aminotran_1_2

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

  • 0
  • 100
  • 200
  • 300
  • 419 a.a.
Protein Preferred Names Protein Names

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

2-amino-3-ketobutyrate-CoA ligase

Related Diseases

Diseases Alias
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
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

Related Agents

Clinical Phase
Bioactive Molecules (2)
Cat. No. Product Name Effect
Purity Phase
HY-142118 Trabedersen Inhibitor 90.45% Phase 3
HY-145728 Alicaforsen Inhibitor / Phase 3
Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS05318 GCAT Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source 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