Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

AMT Gene

protein-coding   GIFtS: 65
GCID: GC03M049429

Aminomethyltransferase

(Previous name: aminomethyltransferase (glycine cleavage system protein...)
  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)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
aminomethyltransferase1 2     EC 2.1.2.103 8
Glycine Cleavage System Protein T1 2     GCE2 5
Glycine Cleavage System T Protein2 3     NKH2 5
GCST2 3     Aminomethyltransferase (Glycine Cleavage System Protein T)1
GCVT2 3     Aminomethyltransferase, Mitochondrial2

External Ids:    HGNC: 4731   Entrez Gene: 2752   Ensembl: ENSG000001450207   OMIM: 2383105   UniProtKB: P487283   
ORGUL members:         
NONCODE14:n408249      

Export aliases for AMT gene to outside databases

Previous GC identifers: GC03P048869 GC03M049308 GC03M049413


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, and is affiliated with the lncRNA class. Diseases associated with AMT include glycine encephalopathy, and neonatal glycine encephalopathy, and among its related super-pathways are One carbon pool by folate and Metabolism. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NC_018914.2  NT_022517.18  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for AMT

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 GC03M049429:  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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: Mitochondrion
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P48728

  • 4/8 DME Specific Peptides for AMT (P48728) (see all 8)
     LLALQGP  KMPFVPT  GYTGEDG  WTLGKRRR 

    AMT Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    AMT Protein Expression
    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  

    Human Recombinant Protein Products for AMT: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for AMT
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for AMT
    GenScript Custom Purified and Recombinant Proteins Services for AMT
    Novus Biologicals AMT Protein
    Novus Biologicals AMT Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for AMT 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

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

    AMT for ontologies           About GeneDecksing



    AMT Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for AMT
    GenScript Superior Antibodies for AMT
    Novus Biologicals AMT Antibodies
    Abcam antibodies for AMT
    Cloud-Clone Corp. Antibodies for AMT 
    ThermoFisher Antibodies for AMT
    LSBio Antibodies in human, mouse, rat for AMT 

    Assay Products for AMT: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for AMT
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for AMT
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for AMT 
    Cloud-Clone Corp. CLIAs for AMT


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    4 InterPro protein domains:
     IPR006222 GCV_T_N
     IPR027266 TrmE/GcvT_dom1
     IPR006223 GcvT
     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


    AMT 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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004047aminomethyltransferase activity IEA--
    GO:0008483transaminase activity IEA--
         
    AMT for ontologies           About GeneDecksing


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

    AMT for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for AMT 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for AMT

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for AMT 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for AMT 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat AMT
    8/13 QIAGEN miScript miRNA 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
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for AMT
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat AMT

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for AMT
    Sirion Biotech Customized adenovirus for overexpression of AMT

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for AMT (see all 21)
    OriGene ORF clones in mouse, rat for AMT
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): AMT (NM_000481)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for AMT
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AMT
    Sirion Biotech Customized lentivirus for stable overexpression of AMT 
                         Customized lentivirus expression plasmids for stable overexpression of AMT 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for AMT
    Search LifeMap BioReagents cell lines for AMT
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AMT


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for AMT About                                                                                                See pathways by source

    SuperPathContained pathways About
    1One Carbon Metabolism
    One carbon pool by folate0.53
    One Carbon Metabolism0.53
    2Metabolism
    Metabolic pathways0.40
    3Carbon metabolism
    Carbon metabolism0.37
    4glycine cleavage
    glycine cleavage
    5Glycine, serine and threonine metabolism
    Glycine, serine and threonine metabolism

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for AMT
        One Carbon Metabolism
    glycine cleavage


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


    AMT for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for AMT

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

    5/40 Interacting proteins for AMT (P487283 ENSP000002735884) via UniProtKB, MINT, STRING, and/or I2D (see all 40)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PSMD6Q150083, ENSP000002959014I2D: score=5 STRING: ENSP00000295901
    GLDCP233783, ENSP000003707374I2D: score=2 STRING: ENSP00000370737
    DLATP105153, ENSP000002803464I2D: score=1 STRING: ENSP00000280346
    PSAT1Q9Y6173, ENSP000003657734I2D: score=1 STRING: ENSP00000365773
    DLDP096223, ENSP000002054024I2D: score=1 STRING: ENSP00000205402
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

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

    AMT for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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

    Search CenterWatch for drugs/clinical trials and news about AMT / GCST

    (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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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
    18/23 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
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat AMT
    8/13 QIAGEN miScript miRNA 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
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for AMT
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat AMT
    Clone
    Products:
         
    OriGene clones in human, mouse for AMT (see all 21)
    OriGene ORF clones in mouse, rat for AMT
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): AMT (NM_000481)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for AMT
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AMT
    Sirion Biotech Customized lentivirus for stable overexpression of AMT 
                         Customized lentivirus expression plasmids for stable overexpression of AMT 
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for AMT
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat AMT
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat AMT
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat AMT

    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 

    24/246 AceView cDNA sequences (see all 246):

    BM874253 F11299 AV658254 AA757038 AA741122 AK091738 AA962122 AI081517 
    NM_000481 BF927729 BX951867 BC007546 AU098698 AW591508 AU076448 BM843383 
    BP374048 AU103013 BQ083549 AI912969 BU726482 AA701640 BC005050 AI903355 

    GeneLoc Exon Structure

    5/11 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    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


    See AMT Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for AMT

    SOURCE GeneReport for Unigene cluster: Hs.102
        SABiosciences Expression via Pathway-Focused PCR Array including AMT: 
              Amino Acid Metabolism II in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for AMT
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat AMT
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat AMT
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat AMT
    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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for AMT gene from 10/27 species (see all 27)    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
    66(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
    54.79(n)1
    53.59(a)1
      32A33
    344741  NM_135597.21  NP_609441.11 
    worm
    (Caenorhabditis elegans)
    Secernentea F25B4.13
    CELE_F25B4.11
    aminomethytransferase3
    Protein F25B4.11
    53(a)3
    53.24(n)1
    54.67(a)1
      V(5715480-5716624)3
    1789601  NM_072101.31  NP_504502.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes GCV1(YDR019C)4
    GCV11
    T subunit of the mitochondrial glycine decarboxylase more4
    Gcv1p1
    48.22(n)1
    44.38(a)1
      4(485365-484163)4
    8515821, 4  NP_010302.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G118601 aminomethyltransferase 53.84(n)
    50.63(a)
      837733  NM_101057.4  NP_172650.1 
    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)
    About This Section
    Paralogs for AMT gene

    AMT for paralogs           About GeneDecksing


    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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/175 SNPs in AMT are shown (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
    ----------
    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--------
    rs1161922901,2,4
    C,FNon-ketotic hyperglycinemia (NKH)4 --49516486(+) CACCTC/TCATCA 9 K E mis13Minor allele frequency- T:0.01NA EU 5979
    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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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

  • 13 diseases for AMT:    About MalaCards
    glycine encephalopathy    neonatal glycine encephalopathy    infantile glycine encephalopathy    amt-related glycine encephalopathy
    atypical glycine encephalopathy    autosomal recessive disease    spina bifida    neural tube defects
    crohn's disease    tuberculosis    schizophrenia    lung cancer
    leukemia

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

    AMT for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for AMT gene, integrated from 9 sources (see all 39):
    (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. (1994)
    2. Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia. (PubMed id 16450403)1, 4, 9 Kure S....Matsubara Y. (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. (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. (2010)
    5. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    6. Maternal genes and facial clefts in offspring: a comp rehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PubMed id 20634891)1, 4 Jugessur A....Murray J.C. (2010)
    7. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    8. 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. (2009)
    9. 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. (2009)
    10. PTEN identified as important risk factor of chronic o bstructive pulmonary disease. (PubMed id 19625176)1, 4 Hosgood H.D....Lan Q. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 275 HGNC: 473 AceView: AMTandNICN1 Ensembl:ENSG00000145020 euGenes: HUgn275
    ECgene: AMT Kegg: 275 H-InvDB: AMT

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for AMT Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/AMT

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Protease Activity Assays and Reagents   Browse Recombinant/Natural Proteins  
     Browse Stem Cell Products   Browse Tocris Biochemicals & Compounds  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for AMT  
     Browse OriGene qPCR primer pairs and template standards   OriGene Protein Over-expression Lysate for AMT  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for AMT  
     OriGene qSTAR qPCR primer pairs in human, mouse for AMT   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for AMT   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for AMT   OriGene Custom Protein Services for AMT  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat AMT
     QIAGEN SeqTarget long-range PCR primers for resequencing AMT
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AMT
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat AMT
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat AMT
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat AMT
     GenScript Custom Purified and Recombinant Proteins Services for AMT GenScript cDNA clones with any tag delivered in your preferred vector for AMT
     GenScript Custom Assay Services for AMT GenScript Superior Antibodies for AMT
     GenScript Custom overexpressing Cell Line Services for AMT CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in AMT promoter
     Search Chromatin IP Primers for AMT
     RT2 qPCR Primer Assay in human, mouse, rat AMT
     GNC Network for AMT
     SABiosciences PCR Arrays including human, mouse, rat AMT
     Search Tocris compounds for AMT (GCST)
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     AMT antibodies
     AMT proteins
     AMT lysates
     Antibodies for AMT
     See all of Abcam's Antibodies, Kits and Proteins for AMT
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     Proteins for AMT
     Antibodies for AMT
     ELISAs for AMT
     CLIAs for AMT
     Search LifeMap BioReagents cell lines for AMT
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AMT
     SwitchGear 3'UTR luciferase reporter plasmids for AMT
     SwitchGear Promoter luciferase reporter plasmids for AMT
     ThermoFisher Antibodies for AMT
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AMT
     inGenious Targeting Laboratory - Custom generated mouse model solutions for AMT
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for AMT
    Customized:
     lentivirus for stable overexpression of AMT
     lentivirus expression plasmids for stable overexpression of AMT
     adenovirus for overexpression of AMT
     LSBio Antibodies in human, mouse, rat for AMT
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
           
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

    View Random Gene

    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      AMT gene at Home site.
    hostname: 356980-web2.xennexinc.com index build: 106 solr: 1.4