GCAT - glycine C-acetyltransferase Gene

Also Known as KBL

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 23464

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 References 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
  • 400
  • 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
  • Pre-clinical Phase

Clinical Phase

Bioactive Molecules (2)
Cat. No. Product Name Effect
Purity Phase
HY-142118 Trabedersen Inhibitor 91.24% 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 Set / 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
Others GCAT NCBI