Aliases &
Descriptions
for GAMT gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase)
About This Section
|
| Aliases & Descriptions |
|---|
| guanidinoacetate N-methyltransferase1 2 | | TP53I21 2 | | PIG21 2 | | EC 2.1.1.23 |
Export aliases for GAMT gene to outside databasesPrevious GC identifers: GC19M001454 GC19M001466 GC19M001337 GC19M001348 GC19M001397 |
Summaries
for GAMT gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
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, usingS-adenosylmethionine as the methyl donor. Defects in this gene have been implicated in neurologic syndromes andmuscular hypotonia, probably due to creatine deficiency and accumulation of guanidinoacetate in the brain of affectedindividuals. Two transcript variants encoding different isoforms have been described for this gene. (provided byRefSeq)
Gene Wiki entry for GAMT |
Genomic Views
for GAMT 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 60),
Regulatory elements and Epigenetics data according to
Qiagen and/or
SABiosciences)
About This Section
|
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the GAMT gene promoter:
YY1 Pax-6 E2F-5 E2F E2F-1 E2F-2 E2F-4 E2F-3a CUTL1 c-Rel
Other transcription factors
Search SABiosciences Chromatin IP Primers for GAMT
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays  |
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: 19p13.3GAMT 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 19 GeneLoc Exon Structure GeneLoc location for GC19M001171: view genomic region
(about GC identifiers)
Start:
|
1,171,941 bp from pter |
End:
|
1,176,384 bp from pter |
Size:
|
4,444 bases |
Orientation:
|
minus strand |
1 alternative location:
| Chr19- 1,397,089-1,401,552 |
RefSeq DNA sequence:- NC_000019.9 NT_011255.14
|
Proteins
for GAMT gene
(According to
1UniProtKB,
neXtProt,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
Millipore,
Sigma-Aldrich,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological, and/or
ProSpec,
Biochemical Assays by
Millipore,
Sigma-Aldrich,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Dec 2010 and
Entrez Gene,
Antibodies by
Millipore,
Sigma-Aldrich,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals, and/or
Epitomics)
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)
PDB structures from  and Proteopedia  :3ORH (3D)
Secondary accessions: Q53Y34 Q8WVJ1Explore the universe of human proteins at neXtProt for GAMT: NX_Q14353
Post-translational modifications:
View phosphorylation sites using PhosphoSite2
REFSEQ proteins (2 alternative transcripts):
NP_000147.1 NP_620279.1
ENSEMBL proteins: ENSP00000252288 ENSP00000403536 ENSP00000414520
Human Recombinant Proteins
1 Gene Ontology (GO) cellular component term (GO ID links to tree view): About this table
GAMT for ontologies About GeneDecksing
Antibodies for GAMT:
Assays for GAMT: |
Protein
Domains/
Families
for GAMT gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
GAMT for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q14353ProtoNet protein and cluster: Q14353 UniProtKB/Swiss-Prot: GAMT_HUMAN, Q14353Similarity: Belongs to the RMT2 methyltransferase family |
Gene Function
for GAMT gene
(According to UniProtKB,
IUBMB,and/or
Genatlas, Animal models from MGI Dec 24 2010,
shRNA from
OriGene,
Sigma-Aldrich,
RNAi from
Millipore,
siRNAs from
Sigma-Aldrich,
OriGene,
Qiagen,
Super-pooled esiRNAs from Sigma-Aldrich,
microRNA from Sigma-Aldrich,
Qiagen,
SABiosciences,
Clones from Millipore,
Sigma-Aldrich,
OriGene,
GenScript,
Sino Biological,
Cell Lines from GenScript,
Ontologies according to Gene Ontology Consortium 01 Dec 2010 via
Entrez Gene.)
About This Section
|
UniProtKB/Swiss-Prot: GAMT_HUMAN, Q14353Catalytic activity: S-adenosyl-L-methionine + guanidinoacetate = S-adenosyl-L-homocysteine + creatineEnzyme Number (IUBMB): EC 2.1.1.2
Genatlas biochemistry entry for GAMT:guanidinoacetate N-methyltransferase,expressed in liver,catalyzing the synthesis of creatine from guanidinoaacetate andS-adenosylmethionine3 Gene Ontology (GO) molecular function terms (GO ID links to tree view): About this table
GAMT for ontologies About GeneDecksing
Animal Models: 9 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Gamt):
GAMT for phenotypes About GeneDecksing
|
Pathways & Interactions
for GAMT gene
(Pathways according to
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
PCR Arrays from
SABiosciences,
Proteins Network according to
SABiosciences,
Sigma-Aldrich,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Dec 2010 via
Entrez Gene).
About This Section
|
GAMT for pathways About GeneDecksing
3  Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Pathways for GAMT
3  Kegg Pathways (Kegg details for GAMT):
UniProtKB/Swiss-Prot: GAMT_HUMAN, Q14353Pathway: Amine and polyamine biosynthesis; creatine biosynthesis; creatine from L-arginine and glycine: step 2/2 SABiosciences Pathway-Focused PCR Arrays including GAMT: PAHS-069A PAHS-094A
Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Molecular Interaction Network for GAMT
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for GAMT
5 Interacting proteins for GAMT (ENSP000002522883) via UniProtKB, MINT, and/or STRING About this table
5/6 Gene Ontology (GO) biological process terms (GO ID links to tree view) (see all 6): About this table
GAMT for ontologies About GeneDecksing
|
Drugs & Compounds
for GAMT gene(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
|
GAMT for compounds About GeneDecksing
 Browse Tocris compounds for GAMT
9  Novoseek chemical compound relationships for GAMT gene
| 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) |
About this table
|
Transcripts
for GAMT gene(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 228 Homo sapiens; Dec 8 2010) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
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
Millipore,
siRNAs from
Sigma-Aldrich,
OriGene,
Qiagen,
Super-pooled esiRNAs from Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
microRNA from Sigma-Aldrich,
Qiagen,
SABiosciences,
Tagged/untagged cDNA clones from
OriGene,
Sigma-Aldrich,
GenScript,
Primers from
OriGene and/or
SABiosciences)
About This Section
|
REFSEQ mRNAs for GAMT gene (2 alternative transcripts): NM_000156.4 NM_138924.1 Additional cDNA sequence: AF086508.1 AK289465.1 AK297487.1 BC016760.2 BC017936.1 BT007034.1 CR592539.1 CR598497.1 CR622940.1 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): AW328135 CA438906 BM560778 BM703031 F28468 BI821248 CK818879 BM552032 CR598497 F26602 CA412771 BQ232963 AL547635 F19478 AA722440 BQ677258 BI116027 BX438620 CB242422 BQ652009 BM917186 F24913 BU622961 BM547826
 highest scoring ESTs for GAMT:Z49878 AV695277 AW328135 BC016760 BC017936 BE267646 BE396733 BE397304 BE515146 BE786126 Unigene Cluster for GAMT: Guanidinoacetate N-methyltransferase Hs.81131 [show with all ESTs]Unigene Representative Sequence: BM928125
GeneLoc Exon Structure
3 Alternative Splicing Database (ASD) splice patterns (SP) for GAMT
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 |
|---|
|
| SP1: | | | | | | | | | | | | | - | | - | | | | |
| SP2: | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | |
About this scheme
ECgene alternative splicing isoforms for GAMT
3 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000252288(uc002lsj.2) ENST00000447102(uc002lsk.2) ENST00000455182
|
Expression
for GAMT gene
(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 228 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Primers from
OriGene and/or
SABiosciences
)
About This Section
| GAMT expression in normal and diseased human tissues
1 / 2 / 3 7 probe-sets matching GAMT gene
Affymetrix
probe-set |
Array |
GeneAnnot data |
GeneNote data |
GeneTide data |
| # genes |
Sensitivity |
Specificity |
Correlation |
Length |
Gb_Accession |
Consensus |
Uniqueness |
Score |
Rank |
| 37602_at2, 3
|
U95-A |
1 |
0.81 |
1.00 |
1.00 |
1.00 |
Z49878 |
1.00 |
1.00 |
1.00 |
1 |
| 205354_at2, 3
|
U133-A |
1 |
0.91 |
1.00 |
-- |
-- |
NM_000156 |
0.60 |
1.00 |
0.82 |
1 |
| 233358_at*2, 3
|
U133-B |
43 |
0.27 |
0.02 |
-- |
-- |
AK024373 |
0.20 |
0.01 |
0.14 |
3 |
| 1552474_a_at2
|
U133Plus2 |
1 |
1.00 |
1.00 |
-- |
-- |
-- |
-- |
-- |
-- |
-- |
| 205354_at2
|
U133Plus2 |
1 |
0.91 |
1.00 |
-- |
-- |
-- |
-- |
-- |
-- |
-- |
| 1552473_at2
|
U133Plus2 |
1 |
0.82 |
1.00 |
-- |
-- |
-- |
-- |
-- |
-- |
-- |
| 233358_at*2
|
U133Plus2 |
43 |
0.27 |
0.02 |
-- |
-- |
-- |
-- |
-- |
-- |
-- |
About this table
GAMT for expression About GeneDecksing
Data from
Genenote
(Publications) and GNF BioGPS
About these images
About these images
CGAP SAGE TAG: CCCTCCTCCG
SOURCE GeneReport for Unigene cluster: Hs.81131
Expression variation in blood from EXPOLDB for GAMT UniProtKB/Swiss-Prot: GAMT_HUMAN, Q14353Tissue specificity: Expressed in liver
SABiosciences Expression via Pathway-Focused PCR Arrays including GAMT: PAHS-069A PAHS-094A
|
Orthologs
for GAMT gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Dec 24 2010,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for GAMT gene from 5/11 species (see all 11)
About this table Species with no ortholog for GAMT
ENSEMBL Gene Tree for GAMT (if available) |
Paralogs
for GAMT gene(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section
| Pseudogenes
- 2 related pseudogenes
|
Genomic Variants
for GAMT gene(SNPs according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Chr 19 pos | Sequence | Recs | AA
Chg | Type | More | Recs | Allele
freq | Pop | Total
sample | More |
|---|
About this tableHapMap Linkage Disequilibrium images for GAMT (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 3 variations for GAMT
3 CNVs: 7191 4066 5066 | | QIAGEN SeqTarget long-range PCR primers for resequencing GAMT |
|
Disorders & Mutations
for GAMT gene
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
LSDB, HGMD, GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
GAMT for disorders About GeneDecksing
OMIM: 601240 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, mentalretardation, 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 andbody fluids
5 Novoseek disease relationships for GAMT gene
| 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) |
About this table
Genatlas disease: GAMT muscular hypotonia,severe,progressive extrapyramidal movement disorder,extremely low excretion of creatine andaccumulation of guanidinoacetate in brain
GeneTests: GAMT
Creatine Deficiency Syndromes
Locus Specific Mutation Databases (LSDB): GAMT
Human Gene Mutation Database (HGMD): GAMT
Human Genome Epidemiology (HuGE) Navigator: GAMT (2 documents)
Export disorders and mutations for GAMT gene to outside databases
|
Medical News
for GAMT gene(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications
for GAMT gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6UniProtKB/TrEMBL, and/or
7Novoseek)
About This Section
|
10/84 PubMed articles for GAMT gene, integrated from 7 sources (see all 84):
(articles sorted by number of sources associating them with GAMT)- Cloning and sequence analysis of human guanidinoacetate N- methyltransferase cDNA. (PubMed id 8547310)1, 2, 3, 7 Isbrandt D. and von Figura K. (1995)
- 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, 7 Jenne D.E.... Zimmer M. (1997)
- Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man. (PubMed id 8651275)1, 2, 7 Stoeckler S.... von Figura K. (1996)
- 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, 7 Chae Y.J....Lee H. (1998)
- The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)1, 2 Grimwood J.... Lucas S.M. (2004)
- 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)
- Overexpression of GAMT restores GAMT activity in primary GAMT-deficient fibroblasts. (PubMed id 16899382)1, 7 Almeida L.S....Salomons G.S. (2006)
- Expanded clinical and molecular spectrum of guanidinoacetate methyltransferase (GAMT) deficiency. (PubMed id 19027335)1, 7 Dhar S.U....Wong L.J. (2009)
- Guanidinoacetate methyltransferase (GAMT) deficiency diagnosed by proton NMR spectroscopy of body fluids. (PubMed id 19288536)1, 7 Engelke U.F....Wevers R.A. (2009)
- A prevalent pathogenic GAMT mutation (c.59G>C) in Portugal. (PubMed id 17336114)1, 7 Almeida L.S....Salomons G.S. (2007)
|
External Searches for GAMT gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing GAMT gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing GAMT gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing GAMT gene(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.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GAMT |
|
| | |
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
|
Products
for GAMT gene(Antibodies, recombinant proteins, and assays by Millipore, Sigma-Aldrich, R&D Systems, Qiagen, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Epitomics, ProSpec, Uscn,
Clones available from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, PCR Arrays from SABiosciences, Drugs and/or compounds by Sigma-Aldrich, Tocris Bioscience, and/or
Enzo Life Sciences)
About This Section
|
 | |
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| | | |
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| | |
 |  |  |  | |
| |  | Search Tocris compounds for GAMT |
| |  |  |  |  | | | | | | Recombinant Protein for GAMT |
|
 | | | ELISAs and CLIAs for GAMT |
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