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GCSH Gene

protein-coding   GIFtS: 65
GCID: GC16M081115

Glycine Cleavage System Protein H (Aminomethyl Carrier)

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Glycine Cleavage System Protein H (Aminomethyl Carrier)1 2
Lipoic Acid-Containing Protein1 2
NKH2 5
GCE2
Glycine Cleavage System H Protein, Mitochondrial2
Mitochondrial Glycine Cleavage System H-Protein2

External Ids:    HGNC: 42081   Entrez Gene: 26532   Ensembl: ENSG000001409057   OMIM: 2383305   UniProtKB: P234343   

Export aliases for GCSH gene to outside databases

Previous GC identifers: GC16M072048 GC16M082076 GC16M080854 GC01M165211 GC16M080896 GC16M079673 GC16M066872


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 (aminomethyl carrier)) is a protein-coding gene. Diseases associated with GCSH include gcsh-related glycine encephalopathy, and atypical glycine encephalopathy. GO annotations related to this gene include aminomethyltransferase activity and enzyme binding.

UniProtKB/Swiss-Prot: GCSH_HUMAN, P23434
Function: The glycine cleavage system catalyzes the degradation of glycine. The H protein shuttles the methylamine
group of glycine from the P protein to the T protein

Gene Wiki entry for GCSH Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000016.10  NC_018927.2  NT_010498.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the GCSH gene promoter:
         AML1a   ATF-2   FOXD1   CBF-C   S8   CBF-A   CBF-B   NF-kappaB1   MRF-2   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGCSH promoter sequence
   Search Chromatin IP Primers for GCSH

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GCSH


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16q23.2   Ensembl cytogenetic band:  16q23.2   HGNC cytogenetic band: 16q23.2

GCSH Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GCSH gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M081115:  view genomic region     (about GC identifiers)

Start:
81,115,552 bp from pter      End:
81,130,008 bp from pter
Size:
14,457 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: GCSH_HUMAN, P23434 (See protein sequence)
Recommended Name: Glycine cleavage system H protein, mitochondrial precursor  
Size: 173 amino acids; 18885 Da
Cofactor: Binds 1 lipoyl cofactor covalently
Subunit: The glycine cleavage system is composed of four proteins: P, T, L and H
Secondary accessions: Q9H1E9

Explore the universe of human proteins at neXtProt for GCSH: NX_P23434

Explore proteomics data for GCSH at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See GCSH Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_004474.2  
    ENSEMBL proteins: 
     ENSP00000319531   ENSP00000457630   ENSP00000455579   ENSP00000457645   ENSP00000455287  
     ENSP00000455019  

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    Cloud-Clone Corp. CLIAs for GCSH


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR003016 2-oxoA_DH_lipoyl-BS
     IPR017453 GCV_H_sub
     IPR011053 Single_hybrid_motif
     IPR002930 GCV_H

    Graphical View of Domain Structure for InterPro Entry P23434

    ProtoNet protein and cluster: P23434

    2 Blocks protein domains:
    IPB002930 Glycine cleavage H-protein
    IPB003016 2-oxo acid dehydrogenase


    UniProtKB/Swiss-Prot: GCSH_HUMAN, P23434
    Similarity: Belongs to the GcvH family
    Similarity: Contains 1 lipoyl-binding domain


    GCSH for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: GCSH_HUMAN, P23434
    Function: The glycine cleavage system catalyzes the degradation of glycine. The H protein shuttles the methylamine
    group of glycine from the P protein to the T protein

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004047aminomethyltransferase activity IEA--
    GO:0019899enzyme binding IEA--
         
    GCSH for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GCSH
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    miRNA
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    miRTarBase miRNAs that target GCSH:
    hsa-mir-421 (MIRT039361)

    Block miRNA regulation of human, mouse, rat GCSH using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate GCSH (see all 11):
    hsa-miR-3163 hsa-miR-1226 hsa-miR-634 hsa-miR-29c hsa-miR-29a hsa-miR-545 hsa-miR-183* hsa-miR-518a-5p
    SwitchGear 3'UTR luciferase reporter plasmidGCSH 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Predesigned siRNA for gene silencing in human, mouse, rat GCSH

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GCSH


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    GCSH_HUMAN, P23434: Mitochondrion
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    extracellular1
    nucleus1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IEA--
    GO:0005960glycine cleavage complex IEA--

    GCSH for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for GCSH About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Glyoxylate and dicarboxylate metabolism
    Glyoxylate and dicarboxylate metabolism
    2Glycine, serine and threonine metabolism
    Glycine, serine and threonine metabolism

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways




    2 Kegg Pathways  (Kegg details for GCSH):
        Glycine, serine and threonine metabolism
    Glyoxylate and dicarboxylate metabolism


    GCSH for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for GCSH
    Interactions:

        Search GeneGlobe Interaction Network for GCSH

    STRING Interaction Network Preview (showing 5 interactants - click image to see 22)

    Selected Interacting proteins for GCSH (P234342, 3 ENSP000003195314) via UniProtKB, MINT, STRING, and/or I2D (see all 48)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ZBTB16Q055162, 3MINT-63604 I2D: score=5 
    NMIQ132873, ENSP000002433464I2D: score=4 STRING: ENSP00000243346
    AMTP487283, ENSP000002735884I2D: score=2 STRING: ENSP00000273588
    LIPT1Q9Y2343, ENSP000003420714I2D: score=1 STRING: ENSP00000342071
    SUCLA2Q9P2R73, ENSP000003679234I2D: score=1 STRING: ENSP00000367923
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006546glycine catabolic process TAS1671321
    GO:0019464glycine decarboxylation via glycine cleavage system IEA--
    GO:0032259methylation TAS3348809

    GCSH for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for GCSH

    2 HMDB Compounds for GCSH    About this table
    CompoundSynonyms CAS #PubMed Ids
    Glycine2-Aminoacetate (see all 15)56-40-6--
    Lipoic acid(+)-alpha-Lipoate (see all 92)1077-28-7--

    3 DrugBank Compounds for GCSH    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    6-(Hydroxyethyldithio)-8-(Aminomethylthio)Octanoic Acid-- --target--17139284 17016423 10592235
    Dihydrolipoic Acid-- 462-20-4target--10592235
    Glycine2-Aminoacetic acid (see all 4)56-40-6target--17361008



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for GCSH gene: 
    NM_004483.4  

    Unigene Cluster for GCSH:

    Glycine cleavage system protein H (aminomethyl carrier)
    Hs.546256  [show with all ESTs]
    Unigene Representative Sequence: BM474983
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000315467(uc002fgd.3 uc002fge.3) ENST00000564386 ENST00000569885
    ENST00000561801 ENST00000564477 ENST00000566566
    miRNA
    Products:
         
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    Selected qRT-PCR Assays for microRNAs that regulate GCSH (see all 11):
    hsa-miR-3163 hsa-miR-1226 hsa-miR-634 hsa-miR-29c hsa-miR-29a hsa-miR-545 hsa-miR-183* hsa-miR-518a-5p
    SwitchGear 3'UTR luciferase reporter plasmidGCSH 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector: GCSH (NM_004483)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GCSH
    Primer
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    OriGene qPCR primer pairs and template standards for GCSH
    OriGene qSTAR qPCR primer pairs in human, mouse for GCSH
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat GCSH
      QuantiTect SYBR Green Assays in human, mouse, rat GCSH
      QuantiFast Probe-based Assays in human, mouse, rat GCSH

    Additional mRNA sequence: 

    AK311978.1 AY533031.1 BC000790.1 BC009065.1 BC020922.1 BT009827.1 CR457072.1 D00723.1 
    M69175.1 NR_033249.1 

    8 DOTS entries:

    DT.447456  DT.100779940  DT.100779942  DT.75184737  DT.100000731  DT.121423899  DT.95272855  DT.92444931 

    Selected AceView cDNA sequences (see all 237):

    BC000790 AA304964 BG528603 NM_004483 CR603107 BI091245 AI952820 AY533031 
    AA905107 BM756167 CR601763 N72768 BX111930 CR603013 BI093591 BF448093 
    AI432670 BI094355 BG576993 AI650884 CR606547 AA307978 N63246 CA777840 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    GCSH expression in normal human tissues (normalized intensities)      GCSH embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TATCCATACC
    GCSH Expression
    About this image


    GCSH expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Thyroid (Endocrine System)
     
     Kidney (Urinary System)
    GCSH Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GCSH Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.546256
        Custom PCR Arrays for GCSH
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GCSH

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for GCSH gene from Selected species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gcsh1 , 5 glycine cleavage system protein H (aminomethyl carrier)1, 5 83.73(n)1
    81.76(a)1
      8 (63.43 cM)5
    681331  NM_026572.31  NP_080848.11 
     1169818105 
    chicken
    (Gallus gallus)
    Aves GCSH1 glycine cleavage system protein H (aminomethyl carrier) 76.89(n)
    75.46(a)
      415803  NM_001004372.1  NP_001004372.1 
    lizard
    (Anolis carolinensis)
    Reptilia GCSH6
    glycine cleavage system protein H (aminomethyl car...
    72(a)
    1 ↔ 1
    LGc(5730228-5742580)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia gcsh1 glycine cleavage system protein H (aminomethyl carrier) 70.41(n)
    68.05(a)
      496433  NM_001011024.1  NP_001011024.1 
    zebrafish
    (Danio rerio)
    Actinopterygii gcsha1 glycine cleavage system protein H (aminomethyl carrier), more 68.4(n)
    71.11(a)
      541329  NM_001013457.1  NP_001013475.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta ppl1 , 3 pumpless1 53(a)3
    55.07(n)1
    53.62(a)1
      78C43
    403491  NM_079473.41  NP_524197.11 
    worm
    (Caenorhabditis elegans)
    Secernentea F52A8.51 , 3 glycine cleavage system H protein like3
    F52A8.51
    52(a)3
    55.88(n)1
    52.94(a)1
      I(7354137-7354785)3
    1724861  NM_059674.61  NP_492075.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes GCV3(YAL044C)4
    GCV31
    H subunit of the mitochondrial glycine decarboxylase more4
    GCV31
    51.59(n)1
    48.7(a)1
      1(58462-57950)4
    8512541, 4  NP_009355.31  NP_009355.24 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT2G351201 AT2G35120 54.89(n)
    50(a)
      818078  NM_129065.3  NP_181057.1 
    rice
    (Oryza sativa)
    Liliopsida Os02g01701001 Os02g0170100 56.88(n)
    49.21(a)
      4328441  NM_001052561.1  NP_001046026.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GCSH gene

    GCSH for paralogs           About GeneDecksing


    Selected Pseudogenes.org Pseudogenes for GCSH (see all 12)
    PGOHUM00000262180 PGOHUM00000239314 PGOHUM00000248274 PGOHUM00000245131 PGOHUM00000240498


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for GCSH (see all 602)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs358876641,2
    C,F--81115070(+) TCAAAC/TTCCTG 2 -- ds50011Minor allele frequency- T:0.50NA 2
    rs591772271,2
    C,F--81115129(+) GGCGTG/TAGCCA 2 -- ds50013Minor allele frequency- T:0.09CSA NA 124
    rs596859421,2
    C,F--81115139(+) ACCACA/GCCTGG 2 -- ds50015Minor allele frequency- G:0.13CSA WA NA EA 362
    rs1119035751,2
    C--81115217(+) AATGA-/ACAGTTT 2 -- ds50011Minor allele frequency- AC:0.50CSA 2
    rs602303251,2
    C--81115218(+) ATGAA-/AC/CA 
            
    GTTTC
    2 -- ds50010--------
    rs105145141,2
    C,F,H--81115273(+) ACTTTT/CGCTAA 2 -- ds500131Minor allele frequency- C:0.16NS NA EA CSA WA 3016
    rs48892321,2
    C,F,A,H--81115287(+) CTTATA/TTTTGC 2 -- ds500113Minor allele frequency- T:0.05NS NA WA CSA 392
    rs746532081,2
    F--81115311(+) CCAGAA/TGGTGG 2 -- ds50011Minor allele frequency- T:0.02WA 118
    rs105145151,2
    C,F,H--81115322(+) TACTAT/CATGAA 2 -- ds500120Minor allele frequency- C:0.15NS NA EA CSA WA 994
    rs1807286211,2
    --81115377(+) TATCTC/TCTCTT 2 -- ds50010--------

    HapMap Linkage Disequilibrium report for GCSH (81115552 - 81130008 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for GCSH:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2127465CNV Deletion18987734
    esv2490578CNV Deletion19546169
    esv1003113CNV Deletion20482838
    esv2714774CNV Deletion23290073
    esv1126856CNV Deletion17803354
    esv2422360CNV Duplication17116639
    nsv907005CNV Loss21882294
    esv6143CNV Loss19470904
    esv2751615CNV Gain17911159

    Human Gene Mutation Database (HGMD): GCSH
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GCSH
    DNA2.0 Custom Variant and Variant Library Synthesis for GCSH

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 238330   
    OMIM disorders: 605899  
    UniProtKB/Swiss-Prot: GCSH_HUMAN, P23434
  • 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

  • 14 diseases for GCSH:    About MalaCards
    gcsh-related glycine encephalopathy    atypical glycine encephalopathy    glycine encephalopathy    desquamative interstitial pneumonia
    neonatal glycine encephalopathy    infantile glycine encephalopathy    autosomal recessive disease    pneumonia
    tuberculosis    hepatocellular carcinoma    malaria    multiple myeloma
    myeloma    cerebritis

    2 diseases from the University of Copenhagen DISEASES database for GCSH:
    Glycine encephalopathy     Desquamative interstitial pneumonia

    GCSH for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for GCSH gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hyperglycinemia nonketotic 95.6 2 11450847 (1), 16450403 (1)

    GeneTests: GCSH
    GeneReviews: GCSH
    Genetic Association Database (GAD): GCSH
    Human Genome Epidemiology (HuGE) Navigator: GCSH (3 documents)

    Export disorders for GCSH gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for GCSH gene, integrated from 10 sources (see all 28):
    (articles sorted by number of sources associating them with GCSH)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The glycine cleavage system: structure of a cDNA encoding human H- protein, and partial characterization of its gene in patients with hyperglycinemias. (PubMed id 1671321)1, 2, 3 Koyata H. and Hiraga K. (Am. J. Hum. Genet. 1991)
    2. The primary structure of human H-protein of the glycine cleavage system deduced by cDNA cloning. (PubMed id 2025283)1, 2, 3 Fujiwara K.... Motokawa Y. (Biochem. Biophys. Res. Commun. 1991)
    3. Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia. (PubMed id 16450403)1, 4, 9 Kure S....Matsubara Y. (Hum. Mutat. 2006)
    4. Fine mapping and association studies of a high-density lipoprotein cholesterol linkage region on chromosome 16 in French-Canadian subjects. (PubMed id 19844255)1, 4 Dastani Z....Genest J. (Eur. J. Hum. Genet. 2010)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    6. 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. (PubMed id 11450847)1, 9 Kure S....Matsubara Y. (J. Hum. Genet. 2001)
    7. Heterozygous GLDC and GCSH gene mutations in transient neonatal hyperglycinemia. (PubMed id 12402263)1, 9 Kure S....Matsubara Y. (Ann. Neurol. 2002)
    8. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    9. Glycine cleavage enzyme complex: molecular cloning and expression of the H-protein cDNA from cultured human skin fibroblasts. (PubMed id 21539457)1 Zay A....Sinclair G. (Biochem. Cell Biol. 2011)
    10. Single-nucleotide polymorphisms, acute rejection, and severity of tubulitis in kidney transplantation, accounting for center-to-center variation. (PubMed id 21085059)4 Israni A....Oetting W.S. (Transplantation 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 2653 HGNC: 4208 AceView: GCSHandFLJ32702 Ensembl:ENSG00000140905 euGenes: HUgn2653
    ECgene: GCSH Kegg: 2653 H-InvDB: GCSH

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for GCSH Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=GCSH[genesymbol]
    NIEHS-SNPshttp://egp.gs.washington.edu/data/gcsh/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for GCSH gene:
    Search GeneIP for patents involving GCSH

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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