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FLASH GENE
Symbol GCSH contributors: mct - updated : 07-12-2016
HGNC name glycine cleavage system protein H (aminomethyl carrier)
HGNC id 4208
Corresponding disease
GCE1 glycine encephalopathy 1
Location 16q23.2      Physical location : 81.115.551 - 81.129.980
Synonym symbol(s) GCE, NKH
EC.number 2.1.2.10
DNA
TYPE functioning gene
STRUCTURE 14.43 kb     5 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked Y status inconsistent : contradictory evidence
Map see GAN GAN
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
5 - 1538 - 173 - 2011 21539457
- - polyA site 900 - - - 2011 21539457
upstream poly A site
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveliver   lowly
Endocrinepancreas   moderately
Nervousbrain   highly
Reproductivemale systemprostate  moderately
Respiratorylung   moderately
Urinarykidney   highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connectivebone   
Muscularstriatumskeletal  
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a N terrminal mitochondrial target sequence (48aa)
  • a lipoic acid binding site
  • mono polymer complex
    isoforms Precursor mature protein of 125AA
    HOMOLOGY
    Homologene
    FAMILY
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,cytoplasm,organelle,mitochondria,matrix
    basic FUNCTION
  • amino methyl carrier
  • transfer of methylamine group of glycine from P to T protein, catalyzing the second step of the glycine cleavage system
  • its function is involved in the pathogenesis and diagnosis of glycine encephalopathy
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism aminoacid
    signaling
    a component
  • glycine cleavage system complex
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • plausible function of GCSH is to interact with the L-protein, which is also part of the l-ketoglutarate dehydrogenase complex present in fibroblasts
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) GCE1
    related resource MITOP database
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS