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Aliases for GCSH Gene

Aliases for GCSH Gene

  • Glycine Cleavage System Protein H 2 3
  • Glycine Cleavage System Protein H (Aminomethyl Carrier) 2 3 5
  • Lipoic Acid-Containing Protein 2 3 4
  • Mitochondrial Glycine Cleavage System H-Protein 3
  • GCE 3
  • NKH 3

External Ids for GCSH Gene

Previous GeneCards Identifiers for GCSH Gene

  • GC16M072048
  • GC16M082076
  • GC16M080854
  • GC01M165211
  • GC16M080896
  • GC16M079673
  • GC16M081115
  • GC16M066872

Summaries for GCSH Gene

Entrez Gene Summary for GCSH Gene

  • 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]

GeneCards Summary for GCSH Gene

GCSH (Glycine Cleavage System Protein H) is a Protein Coding gene. Diseases associated with GCSH include Glycine Encephalopathy and Atypical Glycine Encephalopathy. Among its related pathways are Glyoxylate metabolism and glycine degradation and Glyoxylate and dicarboxylate metabolism. GO annotations related to this gene include enzyme binding and aminomethyltransferase activity.

UniProtKB/Swiss-Prot for GCSH Gene

  • The glycine cleavage system catalyzes the degradation of glycine. The H protein (GCSH) shuttles the methylamine group of glycine from the P protein (GLDC) to the T protein (GCST).

Gene Wiki entry for GCSH Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GCSH Gene

Genomics for GCSH Gene

Regulatory Elements for GCSH Gene

Enhancers for GCSH Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around GCSH on UCSC Golden Path with GeneCards custom track

Promoters for GCSH Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around GCSH on UCSC Golden Path with GeneCards custom track

Genomic Location for GCSH Gene

Chromosome:
16
Start:
81,081,947 bp from pter
End:
81,096,403 bp from pter
Size:
14,457 bases
Orientation:
Minus strand

Genomic View for GCSH Gene

Genes around GCSH on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GCSH Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GCSH Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GCSH Gene

Proteins for GCSH Gene

  • Protein details for GCSH Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P23434-GCSH_HUMAN
    Recommended name:
    Glycine cleavage system H protein, mitochondrial
    Protein Accession:
    P23434
    Secondary Accessions:
    • Q9H1E9

    Protein attributes for GCSH Gene

    Size:
    173 amino acids
    Molecular mass:
    18885 Da
    Cofactor:
    Name=(R)-lipoate; Xref=ChEBI:CHEBI:83088;
    Quaternary structure:
    • Interacts with GLDC (By similarity). The glycine cleavage system is composed of four proteins: P (GLDC), T (GCST), L (DLD) and H (GCSH).

neXtProt entry for GCSH Gene

Proteomics data for GCSH Gene at MOPED

Post-translational modifications for GCSH Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GCSH Gene

No data available for DME Specific Peptides for GCSH Gene

Domains & Families for GCSH Gene

Graphical View of Domain Structure for InterPro Entry

P23434

UniProtKB/Swiss-Prot:

GCSH_HUMAN :
  • Contains 1 lipoyl-binding domain.
  • Belongs to the GcvH family.
Domain:
  • Contains 1 lipoyl-binding domain.
Family:
  • Belongs to the GcvH family.
genes like me logo Genes that share domains with GCSH: view

No data available for Gene Families for GCSH Gene

Function for GCSH Gene

Molecular function for GCSH Gene

UniProtKB/Swiss-Prot Function:
The glycine cleavage system catalyzes the degradation of glycine. The H protein (GCSH) shuttles the methylamine group of glycine from the P protein (GLDC) to the T protein (GCST).

Phenotypes for GCSH Gene

genes like me logo Genes that share phenotypes with GCSH: view

Human Phenotype Ontology for GCSH Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for GCSH Gene

miRTarBase miRNAs that target GCSH

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for GCSH Gene

Localization for GCSH Gene

Subcellular locations from UniProtKB/Swiss-Prot for GCSH Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GCSH Gene COMPARTMENTS Subcellular localization image for GCSH gene
Compartment Confidence
mitochondrion 5
extracellular 1

Gene Ontology (GO) - Cellular Components for GCSH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with GCSH: view

Pathways & Interactions for GCSH Gene

genes like me logo Genes that share pathways with GCSH: view

Gene Ontology (GO) - Biological Process for GCSH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006546 glycine catabolic process TAS 1671321
GO:0046487 glyoxylate metabolic process TAS --
genes like me logo Genes that share ontologies with GCSH: view

No data available for SIGNOR curated interactions for GCSH Gene

Drugs & Compounds for GCSH Gene

(6) Drugs for GCSH Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glycine Approved Nutra Full agonist, Agonist, Target Endogenous potentiator, co-transmitter 197
Tetrahydrofolic acid Approved Nutra 0
6-(Hydroxyethyldithio)-8-(Aminomethylthio)Octanoic Acid Experimental Pharma Target 0
Dihydrolipoate Experimental Pharma Target 0
NAD Pharma Full agonist, Agonist 0

(5) Additional Compounds for GCSH Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(R)-lipoic acid
  • (+)-alpha-Lipoic acid
  • (R)-(+)-lipoic acid
  • (R)-1,2-Dithiolane-3-pentanoic acid
  • (R)-1,2-dithiolane-3-valeric acid
  • (R)-6,8-thioctic acid
1200-22-2
5,10-Methylene-THF
  • (6R)-5,10-methylenetetrahydrofolate
  • 5,10-Methenyltetrahydropteroylglutamate
  • 5,10-Methylene-6-Hydrofolate
  • 5,10-Methylene-6-Hydrofolic acid
  • 5,10-Methylene-THF
31690-11-6
Ammonia
  • Ammonia anhydrous
  • Ammonia inhalant
  • Ammonia solution strong [usan]
  • Ammonia water
  • Ammoniak
7664-41-7
carbon dioxide
  • Carbon oxide
  • Carbon-12 dioxide
  • Carbonic acid anhydride
  • Carbonic acid gas
  • Carbonic anhydride
124-38-9
Hydrogen Ion
  • Hydrogen cation
  • Hydron
  • Proton
genes like me logo Genes that share compounds with GCSH: view

Transcripts for GCSH Gene

Unigene Clusters for GCSH Gene

Glycine cleavage system protein H (aminomethyl carrier):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for GCSH Gene

No ASD Table

Relevant External Links for GCSH Gene

GeneLoc Exon Structure for
GCSH
ECgene alternative splicing isoforms for
GCSH

Expression for GCSH Gene

mRNA expression in normal human tissues for GCSH Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for GCSH Gene

This gene is overexpressed in Liver, secretome (23.9) and Brain (12.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for GCSH Gene



SOURCE GeneReport for Unigene cluster for GCSH Gene Hs.546256

genes like me logo Genes that share expression patterns with GCSH: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for GCSH Gene

Orthologs for GCSH Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for GCSH Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia LOC101905887 35
  • 89.84 (n)
  • 89.63 (a)
-- 36
  • 85 (a)
OneToMany
-- 36
  • 87 (a)
OneToMany
-- 36
  • 79 (a)
OneToMany
-- 36
  • 87 (a)
OneToMany
-- 36
  • 80 (a)
OneToMany
GCSH 36
  • 90 (a)
OneToMany
dog
(Canis familiaris)
Mammalia GCSH 35
  • 89.6 (n)
  • 87.86 (a)
GCSH 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gcsh 35
  • 83.73 (n)
  • 81.76 (a)
Gcsh 16
Gcsh 36
  • 82 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GCSH 35
  • 99.04 (n)
  • 100 (a)
GCSH 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gcsh 35
  • 85.1 (n)
  • 86.47 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia GCSH 36
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves GCSH 35
  • 76.89 (n)
  • 75.46 (a)
-- 36
  • 78 (a)
OneToMany
GCSH 36
  • 75 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia GCSH 36
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gcsh 35
  • 70.41 (n)
  • 68.05 (a)
zebrafish
(Danio rerio)
Actinopterygii gcsha 35
  • 68.4 (n)
  • 71.11 (a)
gcshb 36
  • 60 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta ppl 37
  • 53 (a)
ppl 35
  • 55.07 (n)
  • 53.62 (a)
ppl 36
  • 47 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006548 35
  • 55.77 (n)
  • 55.97 (a)
worm
(Caenorhabditis elegans)
Secernentea F52A8.5 37
  • 52 (a)
F52A8.5 35
  • 55.88 (n)
  • 52.94 (a)
F52A8.5 36
  • 47 (a)
OneToMany
gcsh-1 36
  • 41 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADR396W 35
  • 46.61 (n)
  • 39.83 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A03597g 35
  • 49.46 (n)
  • 43.23 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GCV3 35
  • 51.59 (n)
  • 48.7 (a)
GCV3 36
  • 35 (a)
OneToOne
GCV3 38
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G35120 35
  • 54.89 (n)
  • 50 (a)
rice
(Oryza sativa)
Liliopsida Os02g0170100 35
  • 56.88 (n)
  • 49.21 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU08877 35
  • 47.74 (n)
  • 41.53 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes gcv3 35
  • 55.1 (n)
  • 47.93 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 31 (a)
OneToOne
Species with no ortholog for GCSH:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GCSH Gene

ENSEMBL:
Gene Tree for GCSH (if available)
TreeFam:
Gene Tree for GCSH (if available)

Paralogs for GCSH Gene

genes like me logo Genes that share paralogs with GCSH: view

No data available for Paralogs for GCSH Gene

Variants for GCSH Gene

Sequence variations from dbSNP and Humsavar for GCSH Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs8052579 - 81,096,217(+) CGGGT(A/G)ACGGG nc-transcript-variant, reference, missense
rs8177877 - 81,090,611(-) CAGCA(A/G)TTTTG nc-transcript-variant, reference, missense
rs1410 -- 81,082,228(+) AAATT(G/T)CCTTT nc-transcript-variant, utr-variant-3-prime
rs1412 -- 81,082,237(+) TTTAA(A/G)AAGTA nc-transcript-variant, utr-variant-3-prime
rs1414 -- 81,082,252(+) TCCGT(A/G)AGTTA nc-transcript-variant, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for GCSH Gene

Variant ID Type Subtype PubMed ID
esv2422360 CNV Duplication 17116639
esv2751615 CNV Gain 17911159
esv1003113 CNV Deletion 20482838
esv2490578 CNV Deletion 19546169
esv2127465 CNV Deletion 18987734
esv2714774 CNV Deletion 23290073
esv6143 CNV Loss 19470904
esv1126856 CNV Deletion 17803354
nsv907005 CNV Loss 21882294

Variation tolerance for GCSH Gene

Residual Variation Intolerance Score: 49.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.00; 60.15% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GCSH Gene

Human Gene Mutation Database (HGMD)
GCSH

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GCSH Gene

Disorders for GCSH Gene

MalaCards: The human disease database

(7) MalaCards diseases for GCSH Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
glycine encephalopathy
  • non-ketotic hyperglycinemia
atypical glycine encephalopathy
  • atypical nka
neonatal glycine encephalopathy
  • classic glycine encephalopathy
infantile glycine encephalopathy
  • infantile nkh
gcsh-related glycine encephalopathy
- elite association - COSMIC cancer census association via MalaCards
Search GCSH in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GCSH_HUMAN
  • Non-ketotic hyperglycinemia (NKH) [MIM:605899]: Autosomal recessive disease characterized by accumulation of a large amount of glycine in body fluid and by severe neurological symptoms. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for GCSH

Genetic Association Database (GAD)
GCSH
Human Genome Epidemiology (HuGE) Navigator
GCSH
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GCSH
genes like me logo Genes that share disorders with GCSH: view

No data available for Genatlas for GCSH Gene

Publications for GCSH Gene

  1. The glycine cleavage system: structure of a cDNA encoding human H- protein, and partial characterization of its gene in patients with hyperglycinemias. (PMID: 1671321) Koyata H. … Hiraga K. (Am. J. Hum. Genet. 1991) 2 3 4 67
  2. Genomic deletion within GLDC is a major cause of non-ketotic hyperglycinaemia. (PMID: 17361008) Kanno J. … Kure S. (J. Med. Genet. 2007) 25 26
  3. Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia. (PMID: 16450403) Kure S. … Matsubara Y. (Hum. Mutat. 2006) 3 23
  4. Heterozygous GLDC and GCSH gene mutations in transient neonatal hyperglycinemia. (PMID: 12402263) Kure S. … Matsubara Y. (Ann. Neurol. 2002) 3 23
  5. Chromosomal localization, structure, single-nucleotide polymorphisms, and expression of the human H-protein gene of the glycine cleavage system (GCSH), a candidate gene for nonketotic hyperglycinemia. (PMID: 11450847) Kure S. … Matsubara Y. (J. Hum. Genet. 2001) 3 23

Products for GCSH Gene

Sources for GCSH Gene

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