GCSH - glycine cleavage system protein H Gene

Also Known as GCE; NKH

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 2653

About GCSH

Cytogenetic location: 16q23.2 Genomic coordinates (GRCh38): 16:81,081,945-81,096,395 (from NCBI)

This gene has 10 transcripts (splice variants), 227 orthologues and is associated with 5 phenotypes. Broad expression in thyroid (RPKM 44.9), kidney (RPKM 31.4) and 23 other tissues.

Summary

Degradation of glycine is brought about by the glycine cleavage system, which is composed of four mitochondrial protein components: P protein (a pyridoxal phosphate-dependent glycine decarboxylase), H protein (a lipoic acid-containing protein), T protein (a tetrahydrofolate-requiring enzyme), and L protein (a lipoamide dehydrogenase). The protein encoded by this gene is the H protein, which transfers the methylamine group of glycine from the P protein to the T protein. Defects in this gene are a cause of nonketotic hyperglycinemia (NKH). Two transcript variants, one protein-coding and the Other probably not protein-coding,have been found for this gene. Also, several transcribed and non-transcribed pseudogenes of this gene exist throughout the genome.[provided by RefSeq, Jan 2010]

GCSH Products (1)

mRNA Protein Name
NM_004483.5 NP_004474.2 glycine cleavage system H protein, mitochondrial precursor

Gene Ontology

  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
16189514 GOA
Biological Process GO Annotation Evidence References Source
involved in protein lipoylation IDA
IDA: Inferred from direct assay
1671321 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

GCSH Protein Structure

GCV_H

GCV_H: Glycine cleavage H-protein (51 - 170)

  • 0
  • 100
  • 173 a.a.
Protein Preferred Names Protein Names

glycine cleavage system H protein, mitochondrial

  • glycine cleavage system protein H (aminomethyl carrier)

GCSH Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
GCSH P23434 MAGEA6 Homo sapiens P43360
Y2H Prey Pooling
32296183
Intra
GCSH P23434 MAGEA6 Homo sapiens P43360
Validated Y2H
32296183
Intra
GCSH P23434 MAGEA6 Homo sapiens P43360
Y2H Array
32296183
Intra
GCSH P23434 MIS18A Homo sapiens Q9NYP9
Validated Y2H
32296183
Intra
GCSH P23434 MIS18A Homo sapiens Q9NYP9
Y2H Prey Pooling
32296183
Intra
GCSH P23434 MIS18A Homo sapiens Q9NYP9
Y2H Array
32296183
Intra
GCSH P23434 RHBDD2 Homo sapiens Q6NTF9-3
Y2H Prey Pooling
32296183
Intra
GCSH P23434 RHBDD2 Homo sapiens Q6NTF9-3
Y2H Array
32296183
Intra
GCSH P23434 RHBDD2 Homo sapiens Q6NTF9-3
Validated Y2H
32296183
Intra
GCSH P23434 NMI Homo sapiens Q13287
Y2H Prey Pooling
32296183
Intra
GCSH P23434 NMI Homo sapiens Q13287
Validated Y2H
32296183
Intra
GCSH P23434 NMI Homo sapiens Q13287
Y2H Array
32296183
Intra
GCSH P23434 MED11 Homo sapiens Q9P086
Validated Y2H
32296183
Intra
GCSH P23434 MED11 Homo sapiens Q9P086
Y2H Array
32296183
Intra
GCSH P23434 MED11 Homo sapiens Q9P086
Y2H Prey Pooling
32296183
Intra
GCSH P23434 CIDEB Homo sapiens Q9UHD4
Y2H Prey Pooling
32296183
Intra
GCSH P23434 CIDEB Homo sapiens Q9UHD4
Validated Y2H
32296183
Intra
GCSH P23434 CIDEB Homo sapiens Q9UHD4
Y2H Array
32296183
Intra
GCSH P23434 MAGEA11 Homo sapiens P43364
Y2H Array
32296183
Intra
GCSH P23434 MAGEA11 Homo sapiens P43364
Y2H Prey Pooling
32296183
Intra
GCSH P23434 MAGEA11 Homo sapiens P43364
Validated Y2H
32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant GCSH Proteins

Cat. No. Product Name Accession Purity
HY-P76358 GCSH Protein, Human (His) P23434 (S49-E173) ≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases Alias
Glycine Encephalopathy

  • Non-Ketotic Hyperglycinemia

  • Nonketotic Hyperglycinemia

  • NKH

  • GCE

  • Hyperglycinemia, Nonketotic

  • Hyperglycinemia Nonketotic

  • Infantile Glycine Encephalopathy

  • Encephalopathy, Glycine

  • Glycine Synthase Deficiency

  • Nka

  • Neonatal Glycine Encephalopathy

  • Classic Glycine Encephalopathy

  • Neonatal Nkh

  • Neonatal Non-Ketotic Hyperglycinemia

  • Infantile Nkh

  • Infantile Non-Ketotic Hyperglycinemia

  • Non-Ketotic Hyperglycinaemia

  • Glycine Cleavage Deficiency

  • Nonketotic Hyperglycinaemia
Atypical Glycine Encephalopathy

  • Atypical Nka

  • Atypical Non-Ketotic Hyperglycinemia
Cutis Laxa, Autosomal Dominant 1

  • Cutis Laxa, Autosomal Dominant

  • Autosomal Dominant Cutis Laxa

  • ADCL1

  • Adcl

  • Autosomal Dominant Cutis Laxa 1

  • Cutis Laxa, Autosomal Dominant, 1

  • Cutis Laxa, Autosomal Dominant, Type 1
Combined Oxidative Phosphorylation Deficiency 23

  • COXPD23

  • Combined Oxidative Phosphorylation Defect Type 23

  • Oxidative Phosphorylation Deficiency, Combined, Type 23
Molybdenum Cofactor Deficiency

  • Combined Molybdoflavoprotein Enzyme Deficiency

  • Mocod

  • Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase, And Aldehyde Oxidase

  • Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase And Aldehyde Oxidase

  • Combined Xanthine Oxidase And Sulfite Oxidase And Aldehyde Oxidase Deficiency

  • Deficiency Of Molybdenum Cofactor

  • Deficiency, Molybdenum Cofactor
Propionic Acidemia

  • Ketotic Hyperglycinemia

  • Propionyl-Coa Carboxylase Deficiency

  • Pcc Deficiency

  • Propionicacidemia

  • Glycinemia, Ketotic

  • Hyperglycinemia With Ketoacidosis And Leukopenia

  • Ketotic Glycinemia

  • Propionic Aciduria

  • Prop

  • Acidemia, Propionic

  • PA-1

  • Ketotic Ii Glycinemia

  • Hyperglycinemia, Ketotic

  • Propionic Acidemia Type I

  • Propionic Acidemia Type Ii

  • PA-2

  • Propionicaciduria
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

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS05344 GCSH Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS19334 Gcsh Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS25825 Gcsh Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Canis familiaris GCSH VGNC VGNC:53389
Mus musculus GCSH MGD MGI:1915383
Rattus norvegicus GCSH RGD RGD:619946
Macaca mulatta GCSH VGNC VGNC:104728
Others GCSH NCBI