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AMT Gene

protein-coding   GIFtS: 64
GCID: GC03M049454

Aminomethyltransferase

(Previous name: aminomethyltransferase (glycine cleavage system protein...)
  See AMT-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
aminomethyltransferase1 2     GCE2 5
Glycine Cleavage System T Protein2 3     NKH2 5
GCST2 3     Aminomethyltransferase (Glycine Cleavage System Protein T)1
GCVT2 3     Glycine Cleavage System Protein T1
EC 2.1.2.103 8     Aminomethyltransferase, Mitochondrial2

External Ids:    HGNC: 4731   Entrez Gene: 2752   Ensembl: ENSG000001450207   OMIM: 2383105   UniProtKB: P487283   

Export aliases for AMT gene to outside databases

Previous GC identifers: GC03P048869 GC03M049308 GC03M049413 GC03M049429


(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 AMT Gene:
This gene encodes one of four critical components of the glycine cleavage system. Mutations in this gene have been
associated with glycine encephalopathy. Multiple transcript variants encoding different isoforms have been found
for this gene. (provided by RefSeq, Sep 2011)

GeneCards Summary for AMT Gene:
AMT (aminomethyltransferase) is a protein-coding gene. Diseases associated with AMT include glycine encephalopathy, and amt-related glycine encephalopathy. GO annotations related to this gene include transaminase activity and aminomethyltransferase activity.

UniProtKB/Swiss-Prot: GCST_HUMAN, P48728
Function: The glycine cleavage system catalyzes the degradation of glycine




(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 at NCBI GenBank:
NC_000003.11  NC_018914.2  NT_022517.19  
Regulatory elements:
   Regulatory transcription factor binding sites in the AMT gene promoter:
         SRF   GR   AP-1   ATF-2   GR-beta   STAT5A   PPAR-gamma1   GR-alpha   PPAR-gamma2   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAMT promoter sequence
   Search Chromatin IP Primers for AMT

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


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

Entrez Gene cytogenetic band: 3p21.2-p21.1   Ensembl cytogenetic band:  3p21.31   HGNC cytogenetic band: 3p21.2-p21.1

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

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M049454:  view genomic region     (about GC identifiers)

Start:
49,454,211 bp from pter      End:
49,460,186 bp from pter
Size:
5,976 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: GCST_HUMAN, P48728 (See protein sequence)
Recommended Name: Aminomethyltransferase, mitochondrial precursor  
Size: 403 amino acids; 43946 Da
Subunit: The glycine cleavage system is composed of four proteins: P, T, L and H
2 PDB 3D structures from and Proteopedia for AMT:
1WSR (3D)        1WSV (3D)    
Secondary accessions: A8K3I5 B4DE61 B4DJQ0 E9PBG1 Q96IG6
Alternative splicing: 4 isoforms:  P48728-1   P48728-2   P48728-3   P48728-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for AMT: NX_P48728

Explore proteomics data for AMT at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for AMT (P48728) (see all 8)
     LLALQGP  KMPFVPT  GYTGEDG  WTLGKRRR 


    See AMT Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_000472.2  NP_001158182.1  NP_001158183.1  NP_001158184.1  

    ENSEMBL proteins: 
     ENSP00000403821   ENSP00000415619   ENSP00000273588   ENSP00000399943   ENSP00000388068  
     ENSP00000378747   ENSP00000443200   ENSP00000440672  

    AMT Human Recombinant Protein Products:

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    Novus Biologicals AMT Protein
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    Cloud-Clone Corp. Proteins for AMT

     
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    Search eBioscience for ELISAs for AMT 


    (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:
     IPR006222 GCV_T_N
     IPR027266 TrmE/GcvT_dom1
     IPR006223 GCS_T
     IPR013977 GCV_T_C

    Graphical View of Domain Structure for InterPro Entry P48728

    ProtoNet protein and cluster: P48728

    1 Blocks protein domain: IPB006222 Glycine cleavage T protein (aminomethyl transferase)

    UniProtKB/Swiss-Prot: GCST_HUMAN, P48728
    Similarity: Belongs to the GcvT family


    Find genes that share domains with AMT           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: GCST_HUMAN, P48728
    Function: The glycine cleavage system catalyzes the degradation of glycine
    Catalytic activity: [Protein]-S(8)-aminomethyldihydrolipoyllysine + tetrahydrofolate =
    [protein]-dihydrolipoyllysine + 5,10-methylenetetrahydrofolate + NH(3)

         Genatlas biochemistry entry for AMT:
    amino-methyltransferase,tetrahydrofolate (THF) dependent,34kDa,T-protein,catalyzing the third step of the glycine
    cleavage system

         Enzyme Number (IUBMB): EC 2.1.2.101 2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004047aminomethyltransferase activity IEA--
    GO:0008483transaminase activity IEA--
         
    Find genes that share ontologies with AMT           About GenesLikeMe


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Amt):
     embryogenesis  mortality/aging  nervous system 

    Find genes that share phenotypes with AMT           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for AMT
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    miRNA
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    miRTarBase miRNAs that target AMT:
    hsa-mir-335-5p (MIRT018253)

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    Selected qRT-PCR Assays for microRNAs that regulate AMT (see all 13):
    hsa-miR-194* hsa-miR-98 hsa-let-7d hsa-let-7c hsa-miR-3190 hsa-let-7i hsa-let-7g hsa-let-7e
    SwitchGear 3'UTR luciferase reporter plasmidAMT 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 4): AMT (NM_000481)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AMT

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AMT


    (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
    GCST_HUMAN, P48728: Mitochondrion
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytosol2
    peroxisome2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005739mitochondrion IEA--

    Find genes that share ontologies with AMT           About GenesLikeMe


    (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 AMT About    
    See pathways by source

    SuperPathContained pathways About
    1One carbon pool by folate
    One carbon pool by folate0.53
    Trans-sulfuration and one carbon metabolism0.43
    One Carbon Metabolism0.53
    2glycine cleavage
    glycine cleavage
    glycine biosynthesis II0.00
    3Carbon metabolism
    Carbon metabolism0.38
    4Metabolism
    Metabolic pathways0.38
    5Glycine, serine and threonine metabolism
    Glycine, serine and threonine metabolism


    Find genes that share SuperPaths with AMT           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    4 BioSystems Pathways for AMT
        One Carbon Metabolism
    glycine cleavage
    glycine biosynthesis II
    Trans-sulfuration and one carbon metabolism


    4 Kegg Pathways  (Kegg details for AMT):
        Glycine, serine and threonine metabolism
    One carbon pool by folate
    Metabolic pathways
    Carbon metabolism

        Pathway & Disease-focused RT2 Profiler PCR Array including AMT: 
              Amino Acid Metabolism II in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for AMT

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for AMT (P487283 ENSP000002735884) via UniProtKB, MINT, STRING, and/or I2D (see all 39)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GLDCP233783, ENSP000003707374I2D: score=2 STRING: ENSP00000370737
    PSAT1Q9Y6173, ENSP000003657734I2D: score=1 STRING: ENSP00000365773
    DLDP096223, ENSP000002054024I2D: score=1 STRING: ENSP00000205402
    GCSHP234343, ENSP000003195314I2D: score=2 STRING: ENSP00000319531
    PHGDHO431753, ENSP000003584174I2D: score=2 STRING: ENSP00000358417
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006546glycine catabolic process IEA--

    Find genes that share ontologies with AMT           About GenesLikeMe



    (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 AMT (GCST)

    10 HMDB Compounds for AMT    About this table
    CompoundSynonyms CAS #PubMed Ids
    5,10-Methenyltetrahydrofolic acid5,10-Methenyltetrahydrofolate (see all 13)7444-29-3--
    5,10-Methylene-THF5,10-methylene-THF (see all 8)31690-11-6--
    AmmoniaNH3 (see all 31)7664-41-7--
    Carbon dioxideCarbon oxide (see all 5)124-38-9--
    Glycine2-Aminoacetate (see all 15)56-40-6--
    N5-Formyl-THF(6R,S)-5-Formyltetrahydrofolate (see all 21)58-05-9--
    NAD3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate (see all 28)53-84-9--
    NADH1,4-Dihydronicotinamide adenine dinucleotide (see all 17)58-68-4--
    Tetrahydrofolic acid(6S)-Tetrahydrofolate (see all 10)135-16-0--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    1 DrugBank Compound for AMT    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Tetrahydrofolic acid5,6,7,8-tetrahydrofolate (see all 3)135-16-0targetcofactor15090517 15355973 16042597 17346178



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for AMT gene (4 alternative transcripts): 
    NM_000481.3  NM_001164710.1  NM_001164711.1  NM_001164712.1  

    Unigene Cluster for AMT:

    Aminomethyltransferase
    Hs.102  [show with all ESTs]
    Unigene Representative Sequence: NM_000481
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 23):
    ENST00000465925 ENST00000427987 ENST00000458307(uc011bcn.2) ENST00000476226
    ENST00000273588(uc003cww.3 uc011bco.2 uc003cwy.3) ENST00000476127
    ENST00000495436 ENST00000399379 ENST00000473163 ENST00000430521 ENST00000491800
    ENST00000487589 ENST00000461210 ENST00000478594 ENST00000480957 ENST00000493046
    ENST00000485108 ENST00000476828
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate AMT (see all 13):
    hsa-miR-194* hsa-miR-98 hsa-let-7d hsa-let-7c hsa-miR-3190 hsa-let-7i hsa-let-7g hsa-let-7e
    SwitchGear 3'UTR luciferase reporter plasmidAMT 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat AMT
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    Additional mRNA sequence: 

    AK091738.1 AK096062.1 AK290600.1 AK293481.1 AK293594.1 AK294592.1 AK296177.1 AK301072.1 
    AK311636.1 BC007546.1 BC094771.1 D13811.1 NR_028435.1 

    12 DOTS entries:

    DT.91941373  DT.100780502  DT.100780499  DT.315300  DT.100662656  DT.120904729  DT.121644609  DT.121644615 
    DT.95376159  DT.443652  DT.97863326  DT.120904434 

    Selected AceView cDNA sequences (see all 246):

    NM_000481 BI522578 BX471822 AI348172 BF927729 AI128880 CR613547 BX358759 
    AA962122 AI269412 BX951867 AA947150 AA701640 BU726482 BC005050 AV658254 
    F11299 BQ083549 AI903355 AI912969 BM874694 CA433307 BI910395 AU076448 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for AMT (see all 11)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b ^ 8a · 8b · 8c ^ 9 ^ 10a · 10b ^ 11 ^ 12
    SP1:                                      -                 -     -                       -     -                                                         
    SP2:                                      -                 -     -                       -     -                                                         
    SP3:                                      -     -           -     -                       -     -                                                         
    SP4:                                      -                 -     -                 -     -     -     -     -                                             
    SP5:                                      -     -     -     -     -                       -     -                                                         


    ECgene alternative splicing isoforms for AMT

    (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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    AMT expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCAGACTCAC
    AMT Expression
    About this image

    AMT Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    AMT Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.102
        Pathway & Disease-focused RT2 Profiler PCR Array including AMT: 
              Amino Acid Metabolism II in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AMT

    (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 AMT gene from Selected species (see all 28)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Amt1 , 5 aminomethyltransferase1, 5 84.28(n)1
    88.83(a)1
      9 (59.19 cM)5
    4344371  NM_001013814.11  NP_001013836.11 
     1082968535 
    chicken
    (Gallus gallus)
    Aves AMT1 aminomethyltransferase 69.21(n)
    67.89(a)
      395566  NM_204788.1  NP_990119.1 
    lizard
    (Anolis carolinensis)
    Reptilia AMT6
    aminomethyltransferase
    68(a)
    1 ↔ 1
    2(147120504-147129249)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.139332 Xenopus laevis transcribed sequence with moderate similarity more 74.56(n)    CA986077.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufc31f042 Transcribed sequence with weak similarity to protein more 75.19(n)    57094015 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG64151 , 3 aminomethyltransferase3
    CG64151
    51(a)3
    55.61(n)1
    54.24(a)1
      32A33
    344741  NM_135597.21  NP_609441.11 
    worm
    (Caenorhabditis elegans)
    Secernentea F25B4.13
    CELE_F25B4.11
    aminomethytransferase3
    CELE_F25B4.11
    53(a)3
    53.24(n)1
    54.67(a)1
      V(5715480-5716624)3
    1789601  NM_072101.41  NP_504502.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes GCV1(YDR019C)4
    GCV11
    T subunit of the mitochondrial glycine decarboxylase more4
    GCV11
    48.09(n)1
    44.26(a)1
      4(485365-484163)4
    8515821, 4  NP_010302.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G118601 AT1G11860 53.84(n)
    50.63(a)
      837733  NM_001198040.1  NP_001184969.1 
    rice
    (Oryza sativa)
    Liliopsida Os.207022 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 74.23(n)    AK099234.1 


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

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

    Find genes that share paralogs with AMT           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for AMT
    PGOHUM00000245986


    (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)
    About This Section

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    Selected SNPs for AMT (see all 175)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1161922901,2,,4
    C,FNon-ketotic hyperglycinemia (NKH)4 --49516486(+) CACCTC/TCATCA 9 K E mis13Minor allele frequency- T:0.01NA EU 5979
    VAR_0079554
    Non-ketotic hyperglycinemia (NKH)4--see VAR_0079552 R H mis40--------
    VAR_0079524
    Non-ketotic hyperglycinemia (NKH)4--see VAR_0079522 G R mis40--------
    VAR_0079544
    Non-ketotic hyperglycinemia (NKH)4--see VAR_0079542 D H mis40--------
    VAR_0079534
    Non-ketotic hyperglycinemia (NKH)4--see VAR_0079532 G D mis40--------
    VAR_0079514
    Non-ketotic hyperglycinemia (NKH)4--see VAR_0079512 H R mis40--------
    VAR_0168474
    Non-ketotic hyperglycinemia (NKH)4--see VAR_0168472 N I mis40--------
    rs710805101,2
    C--49455621(-) ATCTCA/-AAAAA 5 -- int11Minor allele frequency- -:0.00NA 2
    rs578887751,2
    C--49455951(+) TTTTTTTTTT/
            
    GAGAC
    5 -- int11Minor allele frequency- -:0.00NA 2
    rs1139709981,2
    F--49456037(+) TCATGT/CCATTC 5 -- int11Minor allele frequency- C:0.00CSA 1

    HapMap Linkage Disequilibrium report for AMT (49454211 - 49460186 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for AMT:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv834687CNV Loss17160897

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

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 238310   
    OMIM disorders: 605899  
    UniProtKB/Swiss-Prot: GCST_HUMAN, P48728
  • 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

  • 5 diseases for AMT:    
    About MalaCards
    glycine encephalopathy    amt-related glycine encephalopathy    neonatal glycine encephalopathy    infantile glycine encephalopathy
    atypical glycine encephalopathy

    1 disease from the University of Copenhagen DISEASES database for AMT:
    Glycine encephalopathy

    Find genes that share disorders with AMT           About GenesLikeMe

    2 Novoseek inferred disease relationships for AMT gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hyperglycinemia nonketotic 94.6 6 11139253 (2), 11286506 (1), 16450403 (1)
    leukemia t-cell 57.5 4 10720570 (1), 10894947 (1)

    GeneTests: AMT
    GeneReviews: AMT
    Genetic Association Database (GAD): AMT
    Human Genome Epidemiology (HuGE) Navigator: AMT (15 documents)

    Export disorders for AMT 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 AMT gene, integrated from 10 sources (see all 40):
    (articles sorted by number of sources associating them with AMT)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Structure and chromosomal localization of the aminomethyltransferase gene (AMT). (PubMed id 8188235)1, 2, 3, 9 Nanao K.... Hayasaka K. (Genomics 1994)
    2. Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia. (PubMed id 16450403)1, 4, 9 Kure S....Matsubara Y. (Hum. Mutat. 2006)
    3. Recurrent mutations in P- and T-proteins of the glycine cleavage complex and a novel T-protein mutation (N145I): a strategy for the molecular investigation of patients with nonketotic hyperglycinemia (NKH). (PubMed id 11286506)1, 2, 9 Toone J.R.... James E.R. (Mol. Genet. Metab. 2001)
    4. Association analysis of 3p21 with Crohn's disease in a New Zealand population. (PubMed id 20307617)1, 4 Morgan A.R....Ferguson L.R. (Hum. Immunol. 2010)
    5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    6. Identification of neuroglycan C and interacting partners as potential susceptibility genes for schizophrenia in a Southern Chinese population. (PubMed id 19367581)1, 4 So H.C....Sham P.C. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2010)
    7. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PubMed id 20634891)1, 4 Jugessur A....Murray J.C. (PLoS ONE 2010)
    8. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    9. An association study of 45 folate-related genes in spina bifida: Involvement of cubilin (CUBN) and tRNA aspartic acid methyltransferase 1 (TRDMT1). (PubMed id 19161160)1, 4 Franke B....Blom H.J. (Birth Defects Res. Part A Clin. Mol. Teratol. 2009)
    10. PTEN identified as important risk factor of chronic obstructive pulmonary disease. (PubMed id 19625176)1, 4 Hosgood H.D....Lan Q. (Respir Med 2009)

    (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: 275 HGNC: 473 AceView: AMTandNICN1 Ensembl:ENSG00000145020 euGenes: HUgn275
    ECgene: AMT Kegg: 275 H-InvDB: AMT

    (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 AMT Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=AMT[genesymbol]

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

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



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