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

GATM Gene

protein-coding   GIFtS: 69
GCID: GC15M045653

Glycine Amidinotransferase (L-Arginine:Glycine Amidinotransferase)

  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 4

Aliases
Glycine Amidinotransferase (L-Arginine:Glycine Amidinotransferase)1 2     CCDS32
AGAT2 3 5     Glycine Amidinotransferase, Mitochondrial2
L-Arginine:Glycine Amidinotransferase2 3     transamidinase2
EC 2.1.4.13 8     Transamidinase3
AT2     EC 2.1.48

External Ids:    HGNC: 41751   Entrez Gene: 26282   Ensembl: ENSG000001717667   OMIM: 6023605   UniProtKB: P504403   
ORGUL members:         
NONCODE14:n380275 n337745 n379091 n337746      
Rfam:RF01417    

Export aliases for GATM gene to outside databases

Previous GC identifers: GC15M041211 GC15M038700 GC15M043232 GC15M043369 GC15M043440 GC15M022477


(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 GATM Gene:
This gene encodes a mitochondrial enzyme that belongs to the amidinotransferase family. This enzyme is involved in
creatine biosynthesis, whereby it catalyzes the transfer of a guanido group from L-arginine to glycine, resulting
in guanidinoacetic acid, the immediate precursor of creatine. Mutations in this gene cause arginine:glycine
amidinotransferase deficiency, an inborn error of creatine synthesis characterized by mental retardation,
language impairment, and behavioral disorders. (provided by RefSeq, Jul 2008)

GeneCards Summary for GATM Gene: 
GATM (glycine amidinotransferase (L-arginine:glycine amidinotransferase)) is a protein-coding gene, and is affiliated with the lncRNA class. Diseases associated with GATM include agat deficiency, and renal tuberculosis, and among its related super-pathways are Metabolic pathways and Urea cycle and metabolism of amino groups. GO annotations related to this gene include hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amidines and glycine amidinotransferase activity.

UniProtKB/Swiss-Prot: GATM_HUMAN, P50440
Function: Catalyzes the biosynthesis of guanidinoacetate, the immediate precursor of creatine. Creatine plays a
vital role in energy metabolism in muscle tissues. May play a role in embryonic and central nervous system
development. May be involved in the response to heart failure by elevating local creatine synthesis

Gene Wiki entry for GATM Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000015.9  NC_018926.2  NT_010194.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the GATM gene promoter:
         Max1   TBP   RP58   USF1   Sox5   FOXO3   FOXO3b   SRY   USF-1   FOXO3a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGATM promoter sequence
   Search SABiosciences Chromatin IP Primers for GATM

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


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

Entrez Gene cytogenetic band: 15q21.1   Ensembl cytogenetic band:  15q21.1   HGNC cytogenetic band: 15q15.1

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

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15M045653:  view genomic region     (about GC identifiers)

Start:
45,653,322 bp from pter      End:
45,694,525 bp from pter
Size:
41,204 bases      Orientation:
minus strand
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for GATM

(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: GATM_HUMAN, P50440 (See protein sequence)
Recommended Name: Glycine amidinotransferase, mitochondrial precursor  
Size: 423 amino acids; 48455 Da
Subunit: Homodimer. There is an equilibrium between the monomeric and dimeric forms, shifted towards the side of
the monomer
Subcellular location: Isoform 1: Mitochondrion inner membrane; Peripheral membrane protein; Intermembrane side.
Note=Probably attached to the outer side of the inner membrane
Subcellular location: Isoform 2: Cytoplasm
Sequence caution: Sequence=BAG60595.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
6/11 PDB 3D structures from and Proteopedia for GATM (see all 11):
1JDW (3D)        1JDX (3D)        2JDW (3D)        2JDX (3D)        3JDW (3D)        4JDW (3D)    
Secondary accessions: B4DH99 B4DPI3 Q53EQ4
Alternative splicing: 3 isoforms:  P50440-1   P50440-2   P50440-3   

Explore the universe of human proteins at neXtProt for GATM: NX_P50440

Explore proteomics data for GATM at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P50440

  • 4/11 DME Specific Peptides for GATM (P50440) (see all 11)
     LGGGFHC  GVTVRRP  EWDPLEE  YFPKDHL 

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

    GATM Protein Expression
    REFSEQ proteins: NP_001473.1  
    ENSEMBL proteins: 
     ENSP00000379895   ENSP00000454008   ENSP00000453781   ENSP00000453151   ENSP00000453860  
     ENSP00000453087   ENSP00000452971  
    Reactome Protein details: P50440
    Human Recombinant Protein Products for GATM: 
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    Novus Biologicals GATM Proteins
    Novus Biologicals GATM Lysates
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    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for GATM
    Cloud-Clone Corp. Proteins for GATM 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion ----
    GO:0005743mitochondrial inner membrane IEA--
    GO:0005758mitochondrial intermembrane space TAS--

    GATM for ontologies           About GeneDecksing



    GATM Antibody Products: 
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    Cloud-Clone Corp. CLIAs for GATM


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    IUPHAR Guide to PHARMACOLOGY protein family classification: Arginine:glycine amidinotransferase 
    Arginine:glycine amidinotransferase

    1 InterPro protein domain:
     IPR003198 Amidino_trans

    Graphical View of Domain Structure for InterPro Entry P50440

    ProtoNet protein and cluster: P50440

    1 Blocks protein domain: IPB003198 Amidinotransferase

    UniProtKB/Swiss-Prot: GATM_HUMAN, P50440
    Domain: One chain folds into a compact single domain composed of repeating units, five beta-beta-alpha-beta
    modules, which surround the central active site
    Similarity: Belongs to the amidinotransferase family


    GATM 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: GATM_HUMAN, P50440
    Function: Catalyzes the biosynthesis of guanidinoacetate, the immediate precursor of creatine. Creatine plays a
    vital role in energy metabolism in muscle tissues. May play a role in embryonic and central nervous system
    development. May be involved in the response to heart failure by elevating local creatine synthesis
    Catalytic activity: L-arginine + glycine = L-ornithine + guanidinoacetate
    Biophysicochemical properties: Kinetic parameters: KM=2.0 uM for arginine; KM=3.0 uM for glycine; Vmax=0.44
    umol/min/mg enzyme;
    Induction: Expression is elevated in the myocardium during heart failure, and decreased in inter-uterine growth
    restriction (IUGR)-associated placenta

         Enzyme Numbers (IUBMB): EC 2.1.4.11 2 EC 2.1.42

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0015067amidinotransferase activity ----
    GO:0015068glycine amidinotransferase activity TAS--
    GO:0016813hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amidines IEA--
         
    GATM for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for GATM:
     Cell division defect  Increased G2M DNA content 

         11 MGI mutant phenotypes (inferred from 1 allele(MGI details for Gatm):
     adipose tissue  behavior/neurological  endocrine/exocrine gland  growth/size  homeostasis/metabolism 
     integument  liver/biliary system  muscle  renal/urinary system  reproductive system 
     skeleton 

    GATM for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Gatmtm1.1Isb for GATM

       inGenious Targeting Laboratory - Custom generated mouse model solutions for GATM 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for GATM

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

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    SwitchGear 3'UTR luciferase reporter plasmidGATM 3' UTR sequence
    Inhib. RNA
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    (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 GATM About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    2Arginine and proline metabolism
    Arginine and proline metabolism0.35
    Urea cycle and metabolism of amino groups0.35
    3creatine-phosphate biosynthesis
    Creatine metabolism0.38
    4Metabolism of amino acids and derivatives
    Metabolism of amino acids and derivatives
    5Glycine, serine and threonine metabolism
    Glycine, serine and threonine metabolism

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for GATM
        Urea cycle and metabolism of amino groups


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


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

    UniProtKB/Swiss-Prot: GATM_HUMAN, P50440
    Pathway: Amine and polyamine biosynthesis; creatine biosynthesis; creatine from L-arginine and glycine: step 1/2


    GATM for pathways           About GeneDecksing

    Interactions:

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

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

    5/32 Interacting proteins for GATM (P504401 ENSP000003798954) via UniProtKB, MINT, STRING, and/or I2D (see all 32)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    AGXTENSP000003026204STRING: ENSP00000302620
    AGXT2ENSP000002314204STRING: ENSP00000231420
    ALDH1B1ENSP000003669274STRING: ENSP00000366927
    ALDH2ENSP000002617334STRING: ENSP00000261733
    ALDH3A2ENSP000003457744STRING: ENSP00000345774
    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:0006979response to oxidative stress IEA--
    GO:0007584response to nutrient IEA--
    GO:0009790embryo development IEA--

    GATM 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

    GATM for compounds           About GeneDecksing

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

    Browse Tocris compounds for GATM

    10/12 HMDB Compounds for GATM (see all 12)    About this table
    CompoundSynonyms CAS #PubMed Ids
    4-Guanidinobutanoic acid4-(carbamimidamido)butanoate (see all 8)463-00-3--
    Creatine((amino(imino)methyl)(methyl)amino)acetate (see all 17)57-00-1--
    Gamma-Aminobutyric acid3-Carboxypropylamine (see all 27)56-12-2--
    Glycine2-Aminoacetate (see all 15)56-40-6--
    Guanidoacetic acid(carboxymethyl)-Guanidine (see all 27)352-97-6--
    L-Arginine(S)-2-Amino-5-[(aminoiminomethyl)amino]pentanoate (see all 14)74-79-3--
    N1-AcetylspermineN'-Acetylspermine (see all 6)25593-72-0--
    NorspermidineN-(3-aminopropyl)-1,3-Propanediamine (see all 28)56-18-8--
    Ornithine(+)-S-Ornithine (see all 9)70-26-8--
    Putrescine1,4-Butanediamine (see all 8)110-60-1--

    6 DrugBank Compounds for GATM    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    L-Ornithine(S)-2,5-Diaminopentanoate (see all 4)70-26-8target--11691635 17139284 17016423 5335895 7173402
    Alpha-Aminobutyric Acid-- --target--17139284 17016423
    Delta-Amino Valeric Acid-- --target--17139284 17016423
    Gamma(Amino)-Butyric Acid-- --target--17139284 17016423
    Glycine2-Aminoacetic acid (see all 4)56-40-6target--17486546 16970975
    Norvaline-- --target--17139284 17016423

    10 Novoseek inferred chemical compound relationships for GATM gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    guanidinoacetate 97.2 76 12324495 (6), 17928413 (3), 12597058 (2), 15625559 (2) (see all 28)
    creatinine 70.2 124 12597058 (3), 12324495 (3), 16941429 (3), 11555793 (3) (see all 34)
    ornithine 64 4 17928413 (1), 9915841 (1)
    arginine 54 12 15465778 (1), 17928413 (1), 9915841 (1), 18925426 (1) (see all 6)
    imidazole 31 1 17523404 (1)
    cysteine 19.4 1 9148748 (1)
    aspartate 18.3 2 19598125 (1), 1779553 (1)
    atp 0 2 8720293 (1), 16343079 (1)
    nitric oxide 0 2 15465778 (1)
    alanine 0 1 1779553 (1)

    Search CenterWatch for drugs/clinical trials and news about GATM

    (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,
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    About This Section

    REFSEQ mRNAs for GATM gene: 
    NM_001482.2  

    Unigene Cluster for GATM:

    Glycine amidinotransferase (L-arginine:glycine amidinotransferase)
    Hs.75335  [show with all ESTs]
    Unigene Representative Sequence: NM_001482
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000396659(uc001zvc.3) ENST00000558362(uc001zvb.3) ENST00000558336(uc010uev.1)
    ENST00000561376 ENST00000558916 ENST00000558163 ENST00000558537 ENST00000561148
    ENST00000559885 ENST00000558118 ENST00000560538 ENST00000458245(uc001zvd.3)
    ENST00000527933
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    Additional mRNA sequence: 

    AK098393.1 AK223585.1 AK294995.1 AK298350.1 BC004141.2 S68805.1 X65706.1 

    20 DOTS entries:

    DT.101974230  DT.40293240  DT.451607  DT.100807698  DT.95196170  DT.100807689  DT.100807693  DT.100658771 
    DT.92453964  DT.102843044  DT.92453949  DT.92453963  DT.95196169  DT.100682772  DT.100807691  DT.92453959 
    DT.95196173  DT.95358893  DT.100716325  DT.91657024 

    24/368 AceView cDNA sequences (see all 368):

    AA918692 BQ934423 AV654480 AI365993 AV654085 AV649811 CA775113 F07852 
    X65706 AV661412 CR622786 BM766899 T17445 AV661557 AI985520 BF513354 
    BC004141 AW779954 AV654903 AV662110 BP348504 AI253042 BM826468 AV646229 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for GATM (see all 8)    About this scheme

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


    ECgene alternative splicing isoforms for GATM

    (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

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


    GATM expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/23 selected tissues (see all 23) fully expand
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 4 entries
             hIPS1
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
             Trigeminal Ganglion   
     
     Ovary (Reproductive System)    fully expand to see all 3 entries
             Pre-Granulosa Cells Primordial Follicle
     
     Liver (Hepatobiliary System)    fully expand to see all 2 entries
             Hepatocytes Liver Lobule
             liver ; bile duct cells   
     
     Pancreas (Endocrine System)    fully expand to see all 2 entries
             pancreas ; exocrine glandular cells   
             Pancreatic Islet   

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

    SOURCE GeneReport for Unigene cluster: Hs.75335

    UniProtKB/Swiss-Prot: GATM_HUMAN, P50440
    Tissue specificity: Expressed in brain, heart, kidney, liver, lung, salivary gland and skeletal muscle tissue,
    with the highest expression in kidney. Biallelically expressed in placenta and fetal tissues

        SABiosciences Expression via Pathway-Focused PCR Arrays including GATM: 
              Nephrotoxicity in human mouse rat
              Amino Acid Metabolism I in human mouse rat

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    (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 GATM gene from 5/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gatm1 , 5 glycine amidinotransferase (L-arginine:glycine amidinotransferase)1, 5 91.02(n)1
    95.74(a)1
      2 (60.63 cM)5
    670921  NM_025961.51  NP_080237.11 
     1225944675 
    chicken
    (Gallus gallus)
    Aves GATM1 glycine amidinotransferase (L-arginine:glycine amidinotransferase) 79.82(n)
    86.35(a)
      395504  NM_204745.1  NP_990076.1 
    lizard
    (Anolis carolinensis)
    Reptilia GATM6
    Uncharacterized protein
    80(a)
    1 ↔ 1
    AAWZ02038915(4502-9655)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC531982 similar to glycine amidinotransferase (L-arginineglycine more 79.64(n)    AF187863.2 
    zebrafish
    (Danio rerio)
    Actinopterygii gatm2 glycine amidinotransferase (L-arginineglycine amidinotransferase) 76.63(n)   266799  BC056747.1 


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

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

    (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

    10/390 SNPs in GATM are shown (see all 390)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs803387371,2
    Cpathogenic125728272(-) TGACTA/GGTCAT 2 * W stg10--------
    rs43950201,2
    C,F,A,H--25719598(+) ATCCAA/CACAAC 1 -- ds500126Minor allele frequency- C:0.45NS EA NA WA CSA 2499
    rs46256701,2
    C,F,A,H--25719635(+) GTCCAC/TGTGTA 1 -- ds50019Minor allele frequency- T:0.45NA WA CSA EA 372
    rs45347821,2
    C,F,A,H--25719642(+) TGTAGG/AACTAA 1 -- ds50019Minor allele frequency- A:0.45NA WA CSA EA 372
    rs1432474501,2
    --25719739(+) TCATTG/TCAAAG 1 -- ds50010--------
    rs1144107201,2
    F--25719834(+) TCCTTA/GTACTC 1 -- ds50011Minor allele frequency- G:0.02WA 118
    rs30475031,2
    C--25719869(-) TAATTAATT/-  
            
    CACTC
    1 -- ds50011Minor allele frequency- -:0.50CSA 2
    rs2010854531,2
    C--25719869(-) TAATTA/CACTCA 1 -- ds50010--------
    rs342712441,2
    C--25719870(+) AGTGA-/AATT  
            
    ATTAA
    1 -- ds50010--------
    rs1996011461,2
    C--25719880(+) ATTAAC/TAAACA 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for GATM (45653322 - 45694525 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for GATM:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv1520CNV Insertion18451855
    nsv469721CNV Complex16826518


    Human Gene Mutation Database (HGMD): GATM

    Locus Specific Mutation Databases (LSDB): GATM
    SABiosciences Cancer Mutation PCR Assays
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    (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: 602360   
    OMIM disorders: 612718  
    UniProtKB/Swiss-Prot: GATM_HUMAN, P50440
  • Arginine:glycine amidinotransferase deficiency (AGAT deficiency) [MIM:612718]: An autosomal recessive
    disorder characterized by developmental delay/regression, mental retardation, severe disturbance of expressive
    and cognitive speech, and severe depletion of creatine/phosphocreatine in the brain. Note=The disease is caused
    by mutations affecting the gene represented in this entry

  • 18 diseases for GATM:    About MalaCards
    agat deficiency    renal tuberculosis    guanidinoacetate methyltransferase deficiency    diffuse glomerulonephritis
    language disorder    creatine deficiency syndromes    gyrate atrophy    acute pancreatitis
    duchenne muscular dystrophy    mental retardation    intellectual disability    glomerulonephritis
    muscular dystrophy    metabolic disorders    kidney disease    pancreatitis
    cerebritis    tuberculosis

    3 diseases from the University of Copenhagen DISEASES database for GATM:
    AGAT deficiency     Diffuse glomerulonephritis     Renal tuberculosis

    GATM for disorders           About GeneDecksing

    3 Novoseek inferred disease relationships for GATM gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    language disorders 68.1 1 12597058 (1)
    mental retardation 67.8 5 12468279 (1), 12597058 (1), 11555793 (1), 16769397 (1)
    acute pancreatitis 18.3 1 2329743 (1)

    GeneTests: GATM
    GeneReviews: GATM
    Genetic Association Database (GAD): GATM
    Human Genome Epidemiology (HuGE) Navigator: GATM (2 documents)

    Export disorders for GATM 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 GATM gene, integrated from 9 sources (see all 77):
    (articles sorted by number of sources associating them with GATM)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The amino acid sequences of human and pig L-arginine:glycine amidinotransferase. (PubMed id 8313955)1, 2, 3, 9 Humm A.... Mann K. (1994)
    2. Arginine:glycine amidinotransferase deficiency: the third inborn error of creatine metabolism in humans. (PubMed id 11555793)1, 2, 9 Item C.B.... Cioni G. (2001)
    3. Myocardial expression of the arginine:glycine amidinotransferase gene is elevated in heart failure and normalized after recovery: potential implications for local creatine synthesis. (PubMed id 16820567)1, 2, 9 Cullen M.E....Barton P.J. (2006)
    4. Substrate binding and catalysis by L-arginine:glycine amidinotransferase--a mutagenesis and crystallographic study. (PubMed id 9266688)1, 2, 9 Fritsche E....Huber R. (1997)
    5. The ligand-induced structural changes of human L-arginine:glycine amidinotransferase. A mutational and crystallographic study. (PubMed id 9915841)1, 2, 9 Fritsche E.... Huber R. (1999)
    6. Recombinant expression and isolation of human L-arginine:glycine amidinotransferase and identification of its active-site cysteine residue. (PubMed id 9148748)1, 2, 9 Humm A.... Huber R. (1997)
    7. Crystal structure and mechanism of human L-arginine:glycine amidinotransferase: a mitochondrial enzyme involved in creatine biosynthesis. (PubMed id 9218780)1, 2, 9 Humm A.... Huber R. (1997)
    8. Structure and reaction mechanism of L-arginine:glycine amidinotransferase. (PubMed id 9165070)1, 2, 9 Humm A.... Steinbacher S. (1997)
    9. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    10. Multiple loci associated with indices of renal function and chronic kidney disease. (PubMed id 19430482)1, 4 KAPttgen A....Fox C.S. (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: 2628 HGNC: 4175 AceView: GATM Ensembl:ENSG00000171766 euGenes: HUgn2628
    ECgene: GATM Kegg: 2628 H-InvDB: GATM

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

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

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



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    About This Section

     
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