Details for: GAMT

Gene ID: 2593

Symbol: GAMT

Ensembl ID: ENSG00000130005

Description: guanidinoacetate N-methyltransferase

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 141.5665
    Cell Significance Index: -22.0200
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 60.2815
    Cell Significance Index: -15.2900
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 46.6192
    Cell Significance Index: -22.0100
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 45.7100
    Cell Significance Index: -18.5700
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 19.4712
    Cell Significance Index: -18.5900
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 18.0298
    Cell Significance Index: -22.2300
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 7.1840
    Cell Significance Index: -19.2500
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 6.3195
    Cell Significance Index: -19.4100
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 5.7881
    Cell Significance Index: -22.8400
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: 3.1763
    Cell Significance Index: 26.6800
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 3.1196
    Cell Significance Index: 25.8000
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 2.2848
    Cell Significance Index: 266.2700
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 1.6203
    Cell Significance Index: 321.5600
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 1.3264
    Cell Significance Index: 10.5900
  • Cell Name: type II muscle cell (CL0002212)
    Fold Change: 1.1583
    Cell Significance Index: 18.6900
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.1246
    Cell Significance Index: 58.4200
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 1.0872
    Cell Significance Index: 50.6900
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.0713
    Cell Significance Index: 105.9800
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 1.0702
    Cell Significance Index: 22.4000
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 1.0308
    Cell Significance Index: 64.9700
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 1.0112
    Cell Significance Index: 21.5400
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.7791
    Cell Significance Index: 10.6300
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: 0.7660
    Cell Significance Index: 18.6900
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.7656
    Cell Significance Index: 20.8400
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 0.7243
    Cell Significance Index: 12.2000
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.7094
    Cell Significance Index: 50.1700
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.6173
    Cell Significance Index: 79.7600
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.6117
    Cell Significance Index: 45.5900
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.5937
    Cell Significance Index: 31.1700
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.5604
    Cell Significance Index: 14.7400
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.5420
    Cell Significance Index: 489.3900
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.5314
    Cell Significance Index: 86.4200
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.4429
    Cell Significance Index: 79.8400
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: 0.4406
    Cell Significance Index: 4.7900
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.4366
    Cell Significance Index: 28.1700
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 0.4357
    Cell Significance Index: 15.1400
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.3903
    Cell Significance Index: 47.9900
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 0.3771
    Cell Significance Index: 4.8300
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.3578
    Cell Significance Index: 158.1800
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.3534
    Cell Significance Index: 21.2200
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.2974
    Cell Significance Index: 59.6500
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.2706
    Cell Significance Index: 147.7900
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.2618
    Cell Significance Index: 44.7100
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.2589
    Cell Significance Index: 35.5600
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.2013
    Cell Significance Index: 25.8000
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.1813
    Cell Significance Index: 65.0200
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 0.1491
    Cell Significance Index: 2.2000
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.1307
    Cell Significance Index: 9.0400
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.1205
    Cell Significance Index: 2.6100
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.1104
    Cell Significance Index: 5.1900
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.0699
    Cell Significance Index: 8.2400
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.0555
    Cell Significance Index: 1.5500
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 0.0451
    Cell Significance Index: 0.2600
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.0322
    Cell Significance Index: 6.1300
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: 0.0263
    Cell Significance Index: 0.4000
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.0203
    Cell Significance Index: 0.3400
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0185
    Cell Significance Index: 13.5400
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.0010
    Cell Significance Index: -0.0300
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0040
    Cell Significance Index: -7.4400
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.0104
    Cell Significance Index: -0.2600
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0124
    Cell Significance Index: -22.7800
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0158
    Cell Significance Index: -24.3600
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0188
    Cell Significance Index: -13.8900
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0194
    Cell Significance Index: -26.3800
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0222
    Cell Significance Index: -14.0800
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0224
    Cell Significance Index: -16.9200
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0253
    Cell Significance Index: -2.5800
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0278
    Cell Significance Index: -15.6900
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0305
    Cell Significance Index: -1.0700
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0362
    Cell Significance Index: -16.4500
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0393
    Cell Significance Index: -1.7800
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0404
    Cell Significance Index: -25.2300
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.0483
    Cell Significance Index: -1.3000
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0590
    Cell Significance Index: -16.9800
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0686
    Cell Significance Index: -7.8600
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0687
    Cell Significance Index: -5.2800
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0918
    Cell Significance Index: -5.6400
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1003
    Cell Significance Index: -7.9400
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.1045
    Cell Significance Index: -2.6700
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1047
    Cell Significance Index: -15.2200
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1120
    Cell Significance Index: -23.6000
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.1213
    Cell Significance Index: -3.5600
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.1334
    Cell Significance Index: -1.5900
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.1479
    Cell Significance Index: -9.0700
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.1572
    Cell Significance Index: -10.5700
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.1711
    Cell Significance Index: -3.5500
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.1854
    Cell Significance Index: -4.9500
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: -0.2023
    Cell Significance Index: -1.6500
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.2029
    Cell Significance Index: -2.1000
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.2133
    Cell Significance Index: -22.2100
  • Cell Name: seromucus secreting cell (CL0000159)
    Fold Change: -0.2196
    Cell Significance Index: -4.5800
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.2335
    Cell Significance Index: -7.4800
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: -0.2628
    Cell Significance Index: -4.4200
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.2989
    Cell Significance Index: -8.0000
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: -0.2997
    Cell Significance Index: -2.3100
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: -0.3041
    Cell Significance Index: -2.3300
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.3081
    Cell Significance Index: -17.2900
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: -0.3269
    Cell Significance Index: -3.0100
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.3413
    Cell Significance Index: -17.7800
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.3588
    Cell Significance Index: -8.2900

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Function:** GAMT catalyzes the methylation of guanidinoacetate to form creatine, a key step in the creatine biosynthetic pathway. 2. **Subcellular localization:** GAMT is primarily found in the cytosol of cells, with some localization to the nucleus and mitochondria. 3. **Expression pattern:** GAMT is highly expressed in enterocytes, pancreatic acinar cells, cortical thymic epithelial cells, hepatoblasts, and other cell types involved in energy metabolism and cell growth. 4. **Molecular weight:** The human GAMT protein has a molecular weight of approximately 55 kDa. 5. **Isozymes:** GAMT exists as a monomeric enzyme, with no known isoforms. **Pathways and Functions:** 1. **Creatine biosynthetic process:** GAMT catalyzes the methylation of guanidinoacetate to form creatine, a critical step in the creatine biosynthetic pathway. 2. **Creatine metabolic process:** GAMT is involved in the regulation of creatine metabolism, including the breakdown and recycling of creatine. 3. **Gene expression (transcription):** GAMT has been implicated in the regulation of gene expression, particularly in the context of transcriptional regulation by MECP2. 4. **Methylation:** GAMT catalyzes the methylation of guanidinoacetate to form creatine, a process that involves the transfer of a methyl group from S-adenosylmethionine (SAMe). 5. **Protein binding:** GAMT interacts with various proteins, including creatine kinase, which regulates creatine metabolism and energy storage. **Clinical Significance:** 1. **Creatine deficiency:** GAMT deficiency has been associated with creatine deficiency, a condition characterized by impaired energy metabolism and muscle weakness. 2. **Neurological disorders:** GAMT dysregulation has been linked to various neurological disorders, including epilepsy, schizophrenia, and autism spectrum disorder. 3. **Kidney dysfunction:** GAMT has been implicated in kidney function and dysfunction, particularly in the context of creatine metabolism. 4. **Metabolic disorders:** GAMT dysregulation has been linked to metabolic disorders, including obesity and insulin resistance. In conclusion, GAMT is a critical enzyme involved in creatine biosynthesis and beyond. Its dysregulation has far-reaching consequences for energy metabolism, gene expression, and cellular homeostasis. Further research is needed to fully elucidate the functional significance of GAMT and its role in various diseases.

Genular Protein ID: 931594816

Symbol: GAMT_HUMAN

Name: Guanidinoacetate N-methyltransferase

UniProtKB Accession Codes:

Q14353 A8K0A0 Q53Y34 Q8WVJ1

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 1 CTD 1 ChEBI 15 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 5 EC 2 EMBL 11 Ensembl 2 EvolutionaryTrace 1 ExpressionAtlas 1 GO 12 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OGP 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 1 PDBsum 1 PIR 1 PIRSF 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 2 RefSeq 2 Rhea 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 UniPathway 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 8547310

Title: Cloning and sequence analysis of human guanidinoacetate N-methyltransferase cDNA.

PubMed ID: 8547310

DOI: 10.1016/0167-4781(95)00184-0

PubMed ID: 9325156

Title: 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

DOI: 10.1006/bbrc.1997.9992

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15057824

Title: The DNA sequence and biology of human chromosome 19.

PubMed ID: 15057824

DOI: 10.1038/nature02399

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 8651275

Title: Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man.

PubMed ID: 8651275

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 22223895

Title: Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features.

PubMed ID: 22223895

DOI: 10.1074/mcp.m111.015131

PubMed ID: 12468279

Title: Creatine depletion in a new case with AGAT deficiency: clinical and genetic study in a large pedigree.

PubMed ID: 12468279

DOI: 10.1016/s1096-7192(02)00175-0

PubMed ID: 15108290

Title: Characterization of seven novel mutations in seven patients with GAMT deficiency.

PubMed ID: 15108290

DOI: 10.1002/humu.9238

PubMed ID: 15651030

Title: Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardation.

PubMed ID: 15651030

DOI: 10.1002/ajmg.a.30226

PubMed ID: 16293431

Title: A mutation on exon 6 of guanidinoacetate methyltransferase (GAMT) gene supports a different function for isoform a and b of GAMT enzyme.

PubMed ID: 16293431

DOI: 10.1016/j.ymgme.2005.09.017

PubMed ID: 16855203

Title: GAMT deficiency: features, treatment, and outcome in an inborn error of creatine synthesis.

PubMed ID: 16855203

DOI: 10.1212/01.wnl.0000234852.43688.bf

PubMed ID: 17101918

Title: High frequency of creatine deficiency syndromes in patients with unexplained mental retardation.

PubMed ID: 17101918

DOI: 10.1212/01.wnl.0000239153.39710.81

PubMed ID: 17466557

Title: Successful treatment of a guanidinoacetate methyltransferase deficient patient: findings with relevance to treatment strategy and pathophysiology.

PubMed ID: 17466557

DOI: 10.1016/j.ymgme.2007.03.006

PubMed ID: 19388150

Title: Guanidinoacetate methyltransferase (GAMT) deficiency: late onset of movement disorder and preserved expressive language.

PubMed ID: 19388150

DOI: 10.1111/j.1469-8749.2008.03227.x

PubMed ID: 23660394

Title: Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes.

PubMed ID: 23660394

DOI: 10.1016/j.ymgme.2013.04.006

PubMed ID: 24415674

Title: Thirteen new patients with guanidinoacetate methyltransferase deficiency and functional characterization of nineteen novel missense variants in the GAMT gene.

PubMed ID: 24415674

DOI: 10.1002/humu.22511

PubMed ID: 26003046

Title: Carrier frequency of guanidinoacetate methyltransferase deficiency in the general population by functional characterization of missense variants in the GAMT gene.

PubMed ID: 26003046

DOI: 10.1007/s00438-015-1067-x

PubMed ID: 26319512

Title: A pilot study to estimate incidence of guanidinoacetate methyltransferase deficiency in newborns by direct sequencing of the GAMT gene.

PubMed ID: 26319512

DOI: 10.1016/j.gene.2015.08.045

Sequence Information:

  • Length: 236
  • Mass: 26318
  • Checksum: 6B8E845CE56189F5
  • Sequence:
    • MSAPSATPIF APGENCSPAW GAAPAAYDAA DTHLRILGKP VMERWETPYM HALAAAASSK 
GGRVLEVGFG MAIAASKVQE APIDEHWIIE CNDGVFQRLR DWAPRQTHKV IPLKGLWEDV 
APTLPDGHFD GILYDTYPLS EETWHTHQFN FIKNHAFRLL KPGGVLTYCN LTSWGELMKS 
KYSDITIMFE ETQVPALLEA GFRRENIRTE VMALVPPADC RYYAFPQMIT PLVTKG

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.