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

GAMT Gene

protein-coding   GIFtS: 65
GCID: GC19M001397

guanidinoacetate N-methyltransferase

 Explore 11 diseases affiliated with
GAMT via our new
 Human Malady Compendium 
Biological research products
for GAMT
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Guanidinoacetate N-Methyltransferase1 2
PIG21 2
TP53I21 2
EC 2.1.1.23 8

External Ids:    HGNC: 41361   Entrez Gene: 25932   Ensembl: ENSG000001300057   OMIM: 6012405   UniProtKB: Q143533   

Export aliases for GAMT gene to outside databases

Previous GC identifers: GC19M001454 GC19M001466 GC19M001337 GC19M001348 GC19M001171


(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 GAMT:
The protein encoded by this gene is a methyltransferase that converts guanidoacetate to creatine, using
S-adenosylmethionine as the methyl donor. Defects in this gene have been implicated in neurologic syndromes and
muscular hypotonia, probably due to creatine deficiency and accumulation of guanidinoacetate in the brain of affected
individuals. Two transcript variants encoding different isoforms have been described for this gene. Pseudogenes of
this gene are found on chromosomes 2 and 13. (provided by RefSeq, Feb 2012)

Gene Wiki entry for GAMT (Guanidinoacetate N-methyltransferase)


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NC_018930.1  NT_011255.14  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the GAMT gene promoter:
         SRF   GR   SRF (504 AA)   GR-beta   NRSF form 1   NRSF form 2   HEN1   GR-alpha   LyF-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGAMT promoter sequence
   Search SABiosciences Chromatin IP Primers for GAMT

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GAMT


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

Entrez Gene cytogenetic band: 19p13.3   Ensembl cytogenetic band:  19p13.3   HGNC cytogenetic band: 19p13.3

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

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M001397:  view genomic region     (about GC identifiers)

Start:
1,397,088 bp from pter      End:
1,401,569 bp from pter
Size:
4,482 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: GAMT_HUMAN, Q14353 (See protein sequence)
Recommended Name: Guanidinoacetate N-methyltransferase  
Size: 236 amino acids; 26318 Da
Subunit: Monomer (By similarity)
1 PDB 3D structure from and Proteopedia for GAMT:
3ORH (3D)    
Secondary accessions: A8K0A0 Q53Y34 Q8WVJ1
Alternative splicing: 2 isoforms:  Q14353-1   Q14353-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for GAMT: NX_Q14353

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q14353

  • 3 DME Specific Peptides for GAMT (Q14353)
     PLKGLWE  GFGMAIAA  LTYCNLTSWGEL 

    GAMT Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_000147.1  NP_620279.1  

    ENSEMBL proteins: 
     ENSP00000252288   ENSP00000403536   ENSP00000466341  
    Reactome Protein details: Q14353
    Human Recombinant Protein Products: 
    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
    OriGene Purified Proteins (see all 2): GAMT
    OriGene Protein Over-expression Lysate (see all 3): GAMT
    OriGene Custom Protein Services for GAMT 
    GenScript Custom Purified and Recombinant Proteins Services for GAMT
    Novus Biologicals GAMT Proteins
    Novus Biologicals GAMT Lysates
    Browse Sino Biological Recombinant Proteins
    ProSpec Recombinant Protein for GAMT
    Uscn Proteins for GAMT

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--


    GAMT for ontologies           About GeneDecksing



    GAMT Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies (see all 2): GAMT
    OriGene Custom Antibody Services for GAMT 
    GenScript Custom Superior Antibodies Services for GAMT
    Novus Biologicals GAMT Antibodies
    Abcam antibodies for GAMT 
    Uscn Antibodies for GAMT
    ThermoFisher Antibodies for GAMT

    Assay Products for GAMT: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for GAMT
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for GAMT


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    GAMT for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR016550 GuanidinoAc_N-MeTrfase
     IPR026480 RMT2_dom

    Graphical View of Domain Structure for InterPro Entry Q14353

    ProtoNet protein and cluster: Q14353

    UniProtKB/Swiss-Prot: GAMT_HUMAN, Q14353
    Similarity: Belongs to the class I-like SAM-binding methyltransferase superfamily. RMT2 methyltransferase family
    Similarity: Contains 1 RMT2 (arginine N-methyltransferase 2-like) domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: GAMT_HUMAN, Q14353
    Catalytic activity: S-adenosyl-L-methionine + guanidinoacetate = S-adenosyl-L-homocysteine + creatine

         Genatlas biochemistry entry for GAMT:
    guanidinoacetate N-methyltransferase,expressed in liver,catalyzing the synthesis of creatine from guanidinoaacetate and
    S-adenosylmethionine

    Enzyme Number (IUBMB): EC 2.1.1.21 2

    miRNA
    Products:
        
    OriGene 3'-UTR Clone (see all 2): GAMT
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat GAMT
    2 QIAGEN miScript miRNA Assays for microRNAs that regulate GAMT:
    hsa-miR-124 hsa-miR-506
    SwitchGear 3'UTR luciferase reporter plasmidGAMT 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for GAMT (see all 7)
    OriGene shRNA RFP: GAMT
    OriGene siRNA: GAMT
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat GAMT

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for GAMT

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for GAMT (see all 4)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for GAMT (see all 3)
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 2): GAMT (NM_000156)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GAMT
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GAMT 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for GAMT
    Search LifeMap BioReagents cell lines for GAMT

    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GAMT

    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008168methyltransferase activity TAS9325156
    GO:0008757S-adenosylmethionine-dependent methyltransferase activity ----
    GO:0030731guanidinoacetate N-methyltransferase activity IMP8651275
    GO:0042803protein homodimerization activity ----


    GAMT for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Gamttm1Isb for GAMT
         9 MGI mutant phenotypes (inferred from 1 allele(MGI details for Gamt):
     adipose tissue  behavior/neurological  cellular  endocrine/exocrine gland  growth/size 
     homeostasis/metabolism  mortality/aging  renal/urinary system  reproductive system 

    GAMT for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/6 super-pathways (see all 6About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Metabolism
    Metabolism1.00
    Metabolic pathways0.38
    2Arginine and proline metabolism
    Arginine and proline metabolism1.00
    Urea cycle and metabolism of amino groups0.36
    3Metabolism of amino acids and derivatives
    Metabolism of amino acids and derivatives1.00
    4Glycine, serine and threonine metabolism
    Glycine, serine and threonine metabolism1.00
    5glycine degradation (creatine biosynthesis)
    glycine degradation (creatine biosynthesis)1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    2 BioSystems Pathways for GAMT 
        Urea cycle and metabolism of amino groups
    glycine degradation (creatine biosynthesis)

    3        Reactome Pathways for GAMT
        Creatine metabolism
    Metabolism
    Metabolism of amino acids and derivatives


    3         Kegg Pathways  (Kegg details for GAMT):
        Glycine, serine and threonine metabolism
    Arginine and proline metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: GAMT_HUMAN, Q14353
    Pathway: Amine and polyamine biosynthesis; creatine biosynthesis; creatine from L-arginine and glycine: step 2/2


    GAMT for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for GAMT

    STRING Interaction Network Preview (showing 5 interactants - click image to see 12)

    5/13 Interacting proteins for GAMT (Q143533 ENSP000004035364) via UniProtKB, MINT, STRING, and/or I2D (see all 13)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    ELANEP082463I2D: score=1 
    CKBENSP000002991984STRING: ENSP00000299198
    CKMENSP000002214764STRING: ENSP00000221476
    CKMT2ENSP000002540354STRING: ENSP00000254035
    GATMENSP000003798954STRING: ENSP00000379895
    About this table

    Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006600creatine metabolic process TAS--
    GO:0006601creatine biosynthetic process IEA--
    GO:0006936muscle contraction TAS8547310
    GO:0007283spermatogenesis IEA--
    GO:0009887organ morphogenesis IEA--


    GAMT for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    GAMT for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for GAMT

    4 HMDB Compounds for GAMT    About this table
    CompoundSynonyms CAS #PubMed Ids
    Creatine((amino(imino)methyl)(methyl)amino)acetate (see all 17)57-00-1--
    Guanidoacetic acid(carboxymethyl)-Guanidine (see all 27)352-97-6--
    S-Adenosylhomocysteine(S)-5'-(S)-(3-Amino-3-carboxypropyl)-5'-thioadenosine (see all 19)979-92-0--
    S-Adenosylmethionine(3S)-5'-[(3-amino-3-carboxypropyl)methylsulfonio]-5'-deoxyadenosine (see all 16)29908-03-0--

    4 DrugBank Compounds for GAMT    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    GuanidineAminomethanamidine (see all 9)113-00-8target--179611 15533043 17139284 17016423 10592235
    Creatine(alpha-Methylguanido)acetic acid (see all 6)57-00-1targetproduct of17486546 17336114 17347380
    N-[Amino(Imino)Methyl]Glycine-- --target--17139284 17016423 10592235
    S-Adenosyl-L-Homocysteine-- 979-92-0target--17139284 17016423 10592235

    9 Novoseek chemical compound relationships for GAMT gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    guanidinoacetate 99 153 12597058 (4), 12324495 (4), 12701824 (4), 15028668 (3) (see all 65)
    guanidino 83.1 3 15028668 (1), 9322805 (1)
    creatinine 77.4 143 12597058 (3), 15028668 (3), 16941429 (3), 9322805 (3) (see all 53)
    ornithine 64.3 3 11749046 (2), 12701824 (1)
    phosphocreatine 64.3 2 15234333 (2)
    arginine 39 3 11749046 (2), 12701824 (1)
    s-adenosylmethionine 23.6 2 16471489 (1)
    fatty acid 0.759 4 19917247 (1), 19917243 (1), 20404548 (1)
    hydrogen 0 1 19733262 (1)

    Search CenterWatch for drugs/clinical trials and news about GAMT 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for GAMT gene (2 alternative transcripts): 
    NM_000156.5  NM_138924.2  

    Unigene Cluster for GAMT:

    Guanidinoacetate N-methyltransferase
    Hs.81131  [show with all ESTs]
    Unigene Representative Sequence: NM_138924
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000252288(uc002lsj.3) ENST00000447102(uc002lsk.3) ENST00000591788


    miRNA
    Products:
         
    OriGene 3'-UTR Clone (see all 2): GAMT
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat GAMT
    2 QIAGEN miScript miRNA Assays for microRNAs that regulate GAMT:
    hsa-miR-124 hsa-miR-506
    SwitchGear 3'UTR luciferase reporter plasmidGAMT 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for GAMT (see all 7)
    OriGene shRNA RFP: GAMT
    OriGene siRNA: GAMT
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat GAMT
    Clone
    Products:
         
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for GAMT (see all 4)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for GAMT (see all 3)
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 2): GAMT (NM_000156)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GAMT
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GAMT 
    Primer
    Products:
        
    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for GAMT
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat GAMT
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat GAMT
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GAMT

    Additional cDNA sequence: 

    AF086508.1 AK289465.1 AK297487.1 BC016760.2 BC017936.1 BT007034.1 Z49878.1 

    9 DOTS entries:

    DT.415415  DT.100776274  DT.91699555  DT.86847682  DT.121495003  DT.97792868  DT.121495080  DT.100811293 
    DT.91911056 

    24/207 AceView cDNA sequences (see all 207):

    BI821248 F28468 CK818879 BM917186 BM560778 F24913 BM703031 BU553002 
    CB242422 BX438620 F24553 CR592539 AA192786 BE907355 AW328135 BM552032 
    CR598497 BM547826 CA438906 BQ678012 CB054088 F26602 BU622961 F30073 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for GAMT    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7
    SP1:                                      -     -         
    SP2:                                                      
    SP3:                                                      


    ECgene alternative splicing isoforms for GAMT

    (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

    GAMT expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CCCTCCTCCG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See GAMT Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for GAMT

    SOURCE GeneReport for Unigene cluster: Hs.81131

    UniProtKB/Swiss-Prot: GAMT_HUMAN, Q14353
    Tissue specificity: Expressed in liver

        SABiosciences Expression via Pathway-Focused PCR Arrays including GAMT: 
              Nephrotoxicity in human mouse rat
              Amino Acid Metabolism I in human mouse rat
              Drug Metabolism: Phase II Enzymes in human mouse rat

    Primer
    Products:
    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for GAMT
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat GAMT
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat GAMT
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GAMT
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GAMT

    (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 chordates.

    Orthologs for GAMT gene from 5/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gamt1 , 5 guanidinoacetate methyltransferase1, 5 84.82(n)1
    88.09(a)1
      10 (39.72 cM)5
    144311  NM_010255.31  NP_034385.11 
     802581515 
    chicken
    (Gallus gallus)
    Aves GAMT6
    Uncharacterized protein
    45(a)
    1 ↔ 1
    28(2522662-2525002)
    lizard
    (Anolis carolinensis)
    Reptilia GAMT6
    --
    63(a)
    1 ↔ 1
    AAWZ02037456(6766-14422)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.287822 Xenopus laevis transcribed sequence with moderate similarity more 78.56(n)    48019336 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.284512 Danio rerio guanidinoacetate N-methyltransferase mRNA, more 74.97(n)    AF425745.1 


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

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

    GAMT for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for GAMT
    PGOHUM00000248359 PGOHUM00000240553


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/148 NCBI SNPs in GAMT are shown (see all 148    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs178515821,2
    C,F,non-pathogenic1397443(+) CCTCCG/ATACGG 3 /T /M ds5001 mis1 ese36Minor allele frequency- A:0.07NA EU 5765
    rs557768261,2
    C,F,pathogenic1173909(+) CAGGAC/TGGAGG 2 -- int16Minor allele frequency- T:0.14NA WA CSA 245
    rs803387351,2
    C,pathogenic1174645(-) CACAAA/GGTGCC 4 K syn10--------
    rs1048946941,2
    Cpathogenic1176160(-) CCTATA/CTGCAC 4 M L mis10--------
    rs803387341,2
    Cpathogenic1176249(-) CGCGTC/GGGGGG 4 S W mis10--------
    rs591336831,2
    --1172557(+) CGGCTA/GTCCTG 2 -- int1 ds50010--------
    rs116701391,2
    C,F,H,--1172996(+) ccaggC/Gtggag 2 -- int1 ut311Minor allele frequency- G:0.07NA 120
    rs798329501,2
    C,--1173268(+) TTTTTT/AAAATT 2 -- ut31 int11Minor allele frequency- A:0.50WA 2
    rs1114932451,2
    C,--1173272(+) TAAATTTTC/-  
            
    TTTCT
    2 -- int1 ut311Minor allele frequency- -:0.50CSA 2
    rs742534801,2
    --1173603(+) CACTGC/TGCCAG 3 A syn1 int10--------

    HapMap Linkage Disequilibrium report for GAMT (1397088 - 1401569 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for GAMT
         3 CNVs: 7191 4066 5066
    Human Gene Mutation Database (HGMD): GAMT

    Locus Specific Mutation Databases (LSDB): GAMT

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing GAMT
    DNA2.0 Custom Variant and Variant Library Synthesis for GAMT

    (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.)
    About This Section

    GAMT for disorders           About GeneDecksing

    OMIM gene information: 601240   
    OMIM disorders: 612736  
    UniProtKB/Swiss-Prot: GAMT_HUMAN, Q14353
  • Defects in GAMT are the cause of guanidinoacetate methyltransferase deficiency (GAMT deficiency) [MIM:612736].
  • GAMT deficiency is an autosomal recessive disorder characterized by developmental delay/regression, mental
    retardation, severe disturbance of expressive and cognitive speech, intractable seizures and movement disturbances,
    severe depletion of creatine/phosphocreatine in the brain, and accumulation of guanidinoacetic acid (GAA) in brain and
    body fluids

    11 diseases for GAMT:    About MalaCards
    guanidinoacetate methyltransferase deficiency    hypotonia    creatine deficiency syndrome    gamt deficiency
    agat deficiency    spina bifida    intellectual disability    metabolic disorders
    homocysteine    cerebritis    pancreatitis

    3 diseases from the University of Copenhagen DISEASES database for GAMT:
    AGAT deficiency     Intellectual disability     Movement disease

    5 Novoseek disease relationships for GAMT gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mental retardation 75.5 5 12597058 (1), 17336114 (1), 15108290 (1), 16054853 (1) (see all 5)
    language delay 74.6 2 17186272 (1), 19388150 (1)
    movement disorders 72.9 7 8547310 (1), 12597058 (1), 12701824 (1), 12889668 (1) (see all 7)
    developmental delay 65.6 2 19027335 (1), 11412830 (1)
    epilepsy 63.3 10 12597058 (2), 19388150 (2), 17336114 (1), 15108290 (1) (see all 8)

    Genatlas disease: GAMT
    muscular hypotonia,severe,progressive extrapyramidal movement disorder,extremely low excretion of creatine and
    accumulation of guanidinoacetate in brain

    GeneTests: GAMT
    Creatine Deficiency Syndromes

    Human Genome Epidemiology (HuGE) Navigator: GAMT (3 documents)

    Export disorders for GAMT 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 GAMT gene, integrated from 9 sources (see all 96):
    (articles sorted by number of sources associating them with GAMT)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and sequence analysis of human guanidinoacetate N- methyltransferase cDNA. (PubMed id 8547310)1, 2, 3, 9 Isbrandt D. and von Figura K. (1995)
    2. The human guanidinoacetate methyltransferase (GAMT) gene maps to a syntenic region on 19p13.3, homologous to band C of mouse chromosome 10, but GAMT is not mutated in jittery mice. (PubMed id 9325156)1, 2, 9 Jenne D.E.... Zimmer M. (1997)
    3. A prevalent pathogenic GAMT mutation (c.59G>C) in Portugal. (PubMed id 17336114)1, 7, 9 Almeida L.S....Salomons G.S. (2007)
    4. Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man. (PubMed id 8651275)1, 2, 9 Stoeckler S.... von Figura K. (1996)
    5. The gene encoding guanidinoacetate methyltransferase (GAMT) maps to human chromosome 19 at band p13.3 and to mouse chromosome 10. (PubMed id 9570966)1, 3, 9 Chae Y.J....Lee H. (1998)
    6. The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)1, 2 Grimwood J.... Lucas S.M. (2004)
    7. 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. (2004)
    8. Overexpression of GAMT restores GAMT activity in primary GAMT-deficient fibroblasts. (PubMed id 16899382)1, 9 Almeida L.S....Salomons G.S. (2006)
    9. Expanded clinical and molecular spectrum of guanidinoacetate methyltransferase (GAMT) deficiency. (PubMed id 19027335)1, 9 Dhar S.U....Wong L.J. (2009)
    10. Guanidinoacetate methyltransferase (GAMT) deficiency diagnosed by proton NMR spectroscopy of body fluids. (PubMed id 19288536)1, 9 Engelke U.F....Wevers R.A. (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: 2593 HGNC: 4136 AceView: GAMT Ensembl:ENSG00000130005 euGenes: HUgn2593
    ECgene: GAMT Kegg: 2593 H-InvDB: GAMT

    (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 GAMT Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GAMT

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

    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, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, 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
    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 Phosphatase Activity Assays/Reagents   Browse Recombinant/Natural Proteins  
     OriGene Antibodies for GAMT   OriGene shRNA RFP for GAMT  
     OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for GAMT   OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for GAMT  
     OriGene Protein Over-expression Lysate for GAMT   Browse OriGene Fluorogenic Cell Assay Kits  
     OriGene siRNA for GAMT   OriGene 3'-UTR Clone for GAMT  
     OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for GAMT   OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for GAMT  
     Browse OriGene GFP tagged cDNA clones in CMV expression vector   Browse OriGene MicroRNA Expression Plasmids  
     Browse OriGene basic RS shRNAs   Browse OriGene validated miRNA SYBR primer pairs  
     OriGene Purified Protein for GAMT   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for GAMT   OriGene Custom Protein Services for GAMT  
     OriGene Custom Immunoassay Development  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat GAMT
     QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing GAMT
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GAMT
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat GAMT
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GAMT
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat GAMT
     GenScript Custom Purified and Recombinant Proteins Services for GAMT GenScript cDNA clones with any tag delivered in your preferred vector for GAMT
     GenScript Custom Assay Services for GAMT GenScript Custom Superior Antibodies Services for GAMT
     GenScript Custom overexpressing Cell Line Services for GAMT 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 GAMT promoter
     Search Chromatin IP Primers for GAMT
     RT2 qPCR Primer Assay in human, mouse, rat GAMT
     Search GNC Networks for GAMT
     SABiosciences PCR Arrays including human, mouse, rat GAMT
     Search Tocris compounds for GAMT
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological cDNA Clones
     Antibodies/Proteins Production Services
     Rabbit Monoclonal Antibody Platform
     Bulk Purchasing
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     GAMT antibodies
     GAMT proteins
     GAMT lysates
     Antibodies for GAMT
     See all of Abcam's Antibodies, Kits and Proteins for GAMT
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Recombinant Protein for GAMT




     GAMT Proteins, Antibodies, CLIAs, and ELISAs
     Search LifeMap BioReagents cell lines for GAMT
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GAMT
     SwitchGear 3'UTR luciferase reporter plasmids for GAMT
     SwitchGear Promoter luciferase reporter plasmids for GAMT
     ThermoFisher Antibodies for GAMT
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GAMT
           
    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

    View Random Gene

    Category
    VWF
    (GIFTS: 73)
    von Willebrand factor
    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      GAMT gene at Home site.
    hostname: 356977-web1.xennexinc.com index build: 100 solr: 1.4