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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
Physical map
LOC284685 1q23.3 similar to Ewing sarcoma breakpoint region 1 isoform EWS LOC391128 1 similar to hypothetical protein 4831428F09 LOC116123 1q23.3 hypothetical protein BC014341 LOC391129 1 similar to ribosomal protein L4; 60S ribosomal protein L4; homologue of Xenopus ribosomal protein L1 POGK 1q23.2 pogo transposable element with KRAB domain STAF42 1q23.3 SPT3-associated factor 42 LOC388712 1 similar to dJ782G3.1 (LISCH7 (liver-specific BHLH-ZIP transcription factor)) FLJ14904 1q23.3 hypothetical protein FLJ14904 GPA33 1q23.2 glycoprotein A33 (transmembrane) LOC92235 1q22-q24 hypothetical cardiac/skeletal muscle-expressed ORF LOC391130 1 similar to ribosomal protein S17 POU2F1 1q22-q23 POU domain, class 2, transcription factor 1 CD3Z 1q22-q23 CD3Z antigen, zeta polypeptide (TiT3 complex) SRD5BP1 1q23-q25 steroid-5-beta-reductase, beta polypeptide pseudogene 1 CREG 1q24 cellular repressor of E1A-stimulated genes MGC21854 1q22-q24 hypothetical protein MGC21854 MPZL1 1q23.2 myelin protein zero-like 1 FLJ21047 1q23.3 hypothetical protein FLJ21047 SAC DKFZP564B167 1q24 DKFZP564B167 protein PC326 1q23.3 PC326 protein GCSH 16q24 glycine cleavage system protein H (aminomethyl carrier) GPR161 1q23.3 G protein-coupled receptor 161 MGC3794 1q23.2 putative MAPK activating protein RPL34P1 1q23-q24 ribosomal protein L34 pseudogene 1 LOC375035 1q23.3 hypothetical protein LOC375035 MGC12538 1q23.3 hypothetical protein MGC12538 TBX19 1q23-q24 T-box 19 LOC391131 1 similar to glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1 XCL2 1q23-q25 chemokine (C motif) ligand 2 XCL1 1q23 chemokine (C motif) ligand 1 DPT 1q12-q23 dermatopontin MGC4473 1q23.3 hypothetical protein MGC4473 LOC391132 1 similar to ribosomal protein L29 ATP1B1 1q23.2-q23.3 ATPase, Na+/K+ transporting, beta 1 polypeptide NME7 1q24 non-metastatic cells 7, protein expressed in (nucleoside-diphosphate kinase) BLZF1 1q24-q25 basic leucine zipper nuclear factor 1 (JEM-1) LOC57821 1q24 hypothetical protein LOC57821 SLC19A2 1q23.2-q23.3 solute carrier family 19 (thiamine transporter), member 2 F5 1q23.2-q23.3 coagulation factor V (proaccelerin, labile factor) SELP 1q23.2-q41.2 selectin P (granule membrane protein 140kDa, antigen CD62) SELL 1q23.2-q23.3 selectin L (lymphocyte adhesion molecule 1) SELE 1q23.2-q23.1 selectin E (endothelial adhesion molecule 1) MGC9084 1q23.3 hypothetical protein MGC9084 FLJ10706 1q23.3 hypothetical protein FLJ10706
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