 |
 | Services
| |
 |
Aliases & Descriptions for GATM
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| AGAT 1, 2, 3, 5 | | AT 2, 3 | | EC 2.1.4.1 3 | | Transamidinase 3 | | transamidinase 2 |
| | | Descriptions |
|---|
| L-arginine:glycine amidinotransferase 2, 3 | glycine amidinotransferase (L-arginine:glycine amidinotransferase) 2 |
|
| | Search outside databases for aliases for GATM genePrevious GC identifers: GC15M041211 GC15M038700 GC15M043232 GC15M043369 |
Summaries for GATM(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene summary for GATM: 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] Gene Wiki entry for GATM |
Genomic Location for GATM
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences) About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
Transcription factor binding sites upstream to the GATM gene 
Entrez Gene cytogenetic band: 15q21.1 Ensembl cytogenetic band: 15q21.1 HGNC cytogenetic band: 15q15.1GATM Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)
 GeneLoc gene densities for chromosome 15 GeneLoc Exon Structure GeneLoc location for GC15M043440:
(about GC identifiers)
Start:
|
43,440,614 bp from pter |
End:
|
43,458,272 bp from pter |
Size:
|
17,659 bases |
Orientation:
|
minus strand |
RefSeq DNA sequence:- NC_000015.8 NT_010194.16
| Proteins for GATM
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
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: Mitochondrion inner membrane; Peripheral membrane protein; Intermembrane side (Potential). Cytoplasm. Note=The mitochondrial form is found in the intermembrane space probably attached to the outer side of the inner membrane
PDB structures from and Proteopedia :1JDW (3D)
 1JDX (3D)
 2JDW (3D)
 2JDX (3D)
 3JDW (3D)
 4JDW (3D)
 5JDW (3D)
 6JDW (3D)
 7JDW (3D)
 8JDW (3D)
 9JDW (3D)
 
Secondary accessions: Q53EQ4Alternative splicing: 2 isoforms: P50440-1 P50440-2 REFSEQ proteins: NP_001473.1
ENSEMBL proteins: ENSP00000303263 ENSP00000379895
Human Recombinant Proteins               OriGene Purified Recombinant Human Protein: GATM 
5 Gene Ontology (GO) cellular component terms (links to tree view): About this table
Antibodies for GATM: Assays for GATM: | Protein
Domains/ Families for GATM(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - Graphical View of Domain Structure for InterPro Entry P50440
ProtoNet protein and cluster: P50440 1 Blocks protein family: IPB003198 Amidinotransferase
UniProtKB/Swiss-Prot: GATM_HUMAN, P50440Domain: One chain folds into a compact single domain composed of repeating units, five beta-beta-alpha-beta modules, which surround the central active siteSimilarity: Belongs to the amidinotransferase family | Gene Function for GATM
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_001482
Applied Biosystems Silencer® siRNAs for GATM
Sigma-Aldrich siRNA and siRNA Panels for GATM  Sigma-Aldrich shRNA for GATM  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_001482                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_001482                                  untagged cDNA clone in CMV expression vector: NM_001482 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_001482
UniProtKB/Swiss-Prot: GATM_HUMAN, P50440Catalytic activity: L-arginine + glycine = L-ornithine + guanidinoacetateEnzyme Number (IUBMB): EC 2.1.4.1 3 Gene Ontology (GO) molecular function terms (links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0015068 | glycine amidinotransferase activity |
IDA | 9218780 | | GO:0016740 | transferase activity |
IEA | -- | | GO:0016813 | hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amidines |
IEA | -- | About this table | Pathways & Interactions for GATM
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
| 3 Sigma-Aldrich "Your Favorite Gene" Pathways for GATM (Your Favorite Gene powered by Ingenuity) 
UniProtKB/Swiss-Prot: GATM_HUMAN, P50440Pathway: Amine and polyamine biosynthesis; creatine biosynthesis; creatine from L-arginine and glycine: step 1/2 5/58 Interacting proteins for GATM (ENSP000003032633) via UniProtKB, MINT, and/or STRING (see all 58
)About this table
5/8 Gene Ontology (GO) biological process terms (links to tree view) (see all 8
): About this table
|
Drugs & Compounds for GATM(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
Browse Tocris compounds for GATM 4 Novoseek chemical compound relationships for GATM gene
About this table
|
Transcripts for GATM(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene, Expression Assays from Applied Biosystems) About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_001482
Sigma-Aldrich siRNA and siRNA Panels for GATM  Sigma-Aldrich shRNA for GATM  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_001482 REFSEQ mRNAs for GATM gene: NM_001482.2
Applied Biosystems TaqMan ® Gene Expression Assays: NM_001482               OriGene GFP tagged cDNA clone in CMV expression vector: NM_001482                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_001482                                  untagged cDNA clone in CMV expression vector: NM_001482  Additional cDNA sequence: AK056979.1 AK098393.1 AK223585.1 AK294995.1 AK298350.1 BC004141.2 CR601436.1 CR622786.1 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.91657024 DT.92453949 DT.102843044 DT.92453963 DT.95196169 DT.100682772 DT.100807691 DT.92453959 DT.95196173 DT.95358893 DT.100716325 24/368 AceView cDNA sequences (see all 368
):BP348504 BQ934423 BM826468 AI241106 BM663495 AV649899 BM766875 AV654903 BG428961 CR622786 AV646315 AV648741 CB055285 BM853138 F04111 AV654480 AV649811 AV662110 AV649851 AI985520 BG719271 F07852 AV654085 AV662107
highest scoring ESTs for GATM:S68805 AA442452 AI223328 AK098055 AK098393 AU099726 AU118598 AV645621 AV648741 AV648826 Unigene Cluster for GATM: Glycine amidinotransferase (L-arginine:glycine amidinotransferase) Hs.75335 [show with all ESTs]Unigene Representative Sequence: NM_001482
GeneLoc Exon Structure
5/8 Alternative Splicing Database (ASD) splice patterns (SP) for GATM (see all 8
)
| 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: | |   | |   | |   | - |   | - |   | - |   | - |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   |
About this scheme
ECgene alternative splicing isoforms for GATM
2 Ensembl transcripts including schematic representations: ENST00000305575
ENST00000396659
|
Expression for GATM
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| GATM expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for GATM
1 / 2 / 3 6 probe-sets matching GATM gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: --
SOURCE GeneReport for Unigene cluster: Hs.75335
Expression variation in blood from EXPOLDB for GATM UniProtKB/Swiss-Prot: GATM_HUMAN, P50440Tissue specificity: Kidney |
Orthologs for GATM
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for GATM gene from 5/11 species (see all 11
)
About this table Species with no ortholog for GATM
ENSEMBL Gene Tree for GATM | Paralogs for GATM(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| -- |
SNPs/Variants for GATM(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for GATM (up to first 250kb)
|
Disorders & Mutations for GATM
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 602360 disorders: 612718 UniProtKB/Swiss-Prot: GATM_HUMAN, P50440
Defects in GATM are the cause of L-arginine:glycine amidinotransferase deficiency (AGAT deficiency) [MIM:602360]. AGAT deficiency is a defect in creatine metabolism leading to mental retardation3 Novoseek disease relationships for GATM gene
About this table
GeneTests: GATM Creatine Deficiency Syndromes Human Gene Mutation Database: GATM Human Genome Epidemiology Navigator: GATM (1 document)
|
Medical News for GATM(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for GATM (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/54 PubMed articles for GATM gene (see all 54
):- The amino acid sequences of human and pig L-arginine:glycine amidinotransferase. (PubMed id 8313955)1, 2, 3, 4 Humm A.... Mann K. (1994)
- Arginine:glycine amidinotransferase deficiency: the third inborn error of creatine metabolism in humans. (PubMed id 11555793)1, 3, 4 Item C.B.... Cioni G. (2001)
- The ligand-induced structural changes of human L-arginine:glycine amidinotransferase. A mutational and crystallographic study. (PubMed id 9915841)1, 3, 4 Fritsche E.... Huber R. (1999)
- Recombinant expression and isolation of human L-arginine:glycine amidinotransferase and identification of its active-site cysteine residue. (PubMed id 9148748)1, 3, 4 Humm A.... Huber R. (1997)
- Crystal structure and mechanism of human L-arginine:glycine amidinotransferase: a mitochondrial enzyme involved in creatine biosynthesis. (PubMed id 9218780)1, 3, 4 Humm A.... Huber R. (1997)
- Structure and reaction mechanism of L-arginine:glycine amidinotransferase. (PubMed id 9165070)1, 3, 4 Humm A.... Steinbacher S. (1997)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)3, 4 Gerhard D.S....Malek J. (2004)
- Creatine depletion in a new case with AGAT deficiency: clinical and genetic study in a large pedigree. (PubMed id 12468279)1, 3 Battini R....Cioni G. (2002)
- Guanidinoacetate and creatine plus creatinine assessment in physiologic fluids: an effective diagnostic tool for the biochemical diagnosis of arginine:glycine amidinotransferase and guanidinoacetate methyltransferase deficiencies. (PubMed id 12324495)1, 3 Carducci C....Antonozzi I. (2002)
- Arginine:glycine amidinotransferase (AGAT) deficiency in a newborn: early treatment can prevent phenotypic expression of the disease. (PubMed id 16769397)1, 3 Battini R....Cioni G. (2006)
|
Search for GATM
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing GATM
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing GATM
(According to HUGE)
About This Section
| -- |
Specialized Databases showing GATM(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| Name | Description |
| GeneReviews | http://www.genetests.org/query?gene=GATM |
|
| | | About This Section
| --
| Services for GATM(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals, Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience) About This Section
| 
 Products for GATM:

 | |
 | | | | |
|
 |  |  |
| | Recombinant Proteins (GATM) | | Antibodies (GATM) |
| | | Search Tocris compounds for GATM |
|
 |
 | | | |
GeneCards Homepage - Last full update: 2 Jul 2009
Incremental update: 13 Oct 2009
|