Details for: GAMT

Gene ID: 2593

Symbol: GAMT

Ensembl ID: ENSG00000130005

Description: guanidinoacetate N-methyltransferase

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: enterocyte of colon (CL1000347)
    Fold Change: 4.3
    Marker Score: 6618.5
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 2.57
    Marker Score: 5433
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 2.31
    Marker Score: 8554
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 1.92
    Marker Score: 6298
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 1.77
    Marker Score: 4032.5
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 1.75
    Marker Score: 6224
  • Cell Name: B-2 B cell (CL0000822)
    Fold Change: 1.68
    Marker Score: 2068.5
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 1.67
    Marker Score: 917.5
  • Cell Name: fetal cardiomyocyte (CL0002495)
    Fold Change: 1.59
    Marker Score: 522
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 1.53
    Marker Score: 8244
  • Cell Name: peptic cell (CL0000155)
    Fold Change: 1.51
    Marker Score: 634
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 1.51
    Marker Score: 6507
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 1.45
    Marker Score: 1464
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 1.35
    Marker Score: 2810
  • Cell Name: medullary thymic epithelial cell (CL0002365)
    Fold Change: 1.34
    Marker Score: 2200
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 1.33
    Marker Score: 1494
  • Cell Name: cell of skeletal muscle (CL0000188)
    Fold Change: 1.26
    Marker Score: 962
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 1.23
    Marker Score: 1276
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 1.21
    Marker Score: 2052
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 1.2
    Marker Score: 7732
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.2
    Marker Score: 1761
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 1.19
    Marker Score: 805
  • Cell Name: serous secreting cell (CL0000313)
    Fold Change: 1.18
    Marker Score: 471
  • Cell Name: respiratory epithelial cell (CL0002368)
    Fold Change: 1.17
    Marker Score: 642.5
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 1.17
    Marker Score: 1233
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 1.15
    Marker Score: 3140
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.15
    Marker Score: 835.5
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: 1.13
    Marker Score: 4628
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 1.12
    Marker Score: 750
  • Cell Name: early lymphoid progenitor (CL0000936)
    Fold Change: 1.07
    Marker Score: 526
  • Cell Name: primary sensory neuron (sensu Teleostei) (CL0000531)
    Fold Change: 1.06
    Marker Score: 355
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 1.05
    Marker Score: 1269
  • Cell Name: erythroid progenitor cell, mammalian (CL0001066)
    Fold Change: 1.02
    Marker Score: 326
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 1.01
    Marker Score: 10181
  • Cell Name: CD34-positive, CD38-negative hematopoietic stem cell (CL0001024)
    Fold Change: 1
    Marker Score: 726
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71722
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47947
  • Cell Name: preosteoblast (CL0007010)
    Fold Change: 0.99
    Marker Score: 280.5
  • Cell Name: glycinergic amacrine cell (CL4030028)
    Fold Change: 0.99
    Marker Score: 932
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.98
    Marker Score: 408
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30397
  • Cell Name: hematopoietic precursor cell (CL0008001)
    Fold Change: 0.97
    Marker Score: 341
  • Cell Name: migratory enteric neural crest cell (CL0002607)
    Fold Change: 0.97
    Marker Score: 913.5
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.97
    Marker Score: 3722
  • Cell Name: neural crest cell (CL0011012)
    Fold Change: 0.95
    Marker Score: 1014
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 0.95
    Marker Score: 2384
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.94
    Marker Score: 2400
  • Cell Name: enteric smooth muscle cell (CL0002504)
    Fold Change: 0.94
    Marker Score: 2221
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.94
    Marker Score: 14762
  • Cell Name: mesodermal cell (CL0000222)
    Fold Change: 0.94
    Marker Score: 12419
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.93
    Marker Score: 480
  • Cell Name: kidney interstitial cell (CL1000500)
    Fold Change: 0.93
    Marker Score: 662
  • Cell Name: type A enteroendocrine cell (CL0002067)
    Fold Change: 0.93
    Marker Score: 375
  • Cell Name: acinar cell (CL0000622)
    Fold Change: 0.93
    Marker Score: 655
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 0.93
    Marker Score: 6017
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.92
    Marker Score: 436
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 0.92
    Marker Score: 992
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2731
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 0.9
    Marker Score: 211
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.9
    Marker Score: 267
  • Cell Name: eurydendroid cell (CL0000253)
    Fold Change: 0.89
    Marker Score: 365
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.89
    Marker Score: 610
  • Cell Name: P/D1 enteroendocrine cell (CL0002268)
    Fold Change: 0.88
    Marker Score: 329
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.88
    Marker Score: 352
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 0.88
    Marker Score: 556
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5294
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.87
    Marker Score: 3432
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.87
    Marker Score: 1650.5
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.87
    Marker Score: 2481.5
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 0.87
    Marker Score: 2075.5
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.86
    Marker Score: 1506
  • Cell Name: tracheobronchial serous cell (CL0019001)
    Fold Change: 0.86
    Marker Score: 313
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.86
    Marker Score: 308
  • Cell Name: large pre-B-II cell (CL0000957)
    Fold Change: 0.85
    Marker Score: 2319
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.85
    Marker Score: 4842
  • Cell Name: intestinal crypt stem cell of large intestine (CL0009016)
    Fold Change: 0.85
    Marker Score: 254
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.84
    Marker Score: 1712
  • Cell Name: promyelocyte (CL0000836)
    Fold Change: 0.83
    Marker Score: 410
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: 0.82
    Marker Score: 383
  • Cell Name: common lymphoid progenitor (CL0000051)
    Fold Change: 0.81
    Marker Score: 554
  • Cell Name: neuroblast (sensu Vertebrata) (CL0000031)
    Fold Change: 0.81
    Marker Score: 510
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 0.8
    Marker Score: 2141
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 0.8
    Marker Score: 1319
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.79
    Marker Score: 8140
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 0.78
    Marker Score: 4632.5
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1265
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: 0.76
    Marker Score: 288
  • Cell Name: motor neuron (CL0000100)
    Fold Change: 0.74
    Marker Score: 439
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.74
    Marker Score: 777
  • Cell Name: PP cell (CL0000696)
    Fold Change: 0.74
    Marker Score: 166
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: 0.74
    Marker Score: 428
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.73
    Marker Score: 560
  • Cell Name: kidney collecting duct cell (CL1001225)
    Fold Change: 0.73
    Marker Score: 143
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 0.73
    Marker Score: 801
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 0.72
    Marker Score: 768
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.72
    Marker Score: 659
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.72
    Marker Score: 373
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.71
    Marker Score: 7236
  • Cell Name: renal interstitial pericyte (CL1001318)
    Fold Change: 0.71
    Marker Score: 680
  • Cell Name: stem cell of epidermis (CL1000428)
    Fold Change: 0.71
    Marker Score: 240

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Other Information

**Key characteristics**: - GAMT is a protein of the GAMT family, which are involved in the metabolism of guanidinoacetate. - It is expressed in a variety of cell types, including enterocytes of the colon, pancreatic acinar cells, cortical thymic epithelial cells, hepatocytes, acinar cells of the salivary gland, epithelial cells of the proximal tubule, B-2 B cells, Hofbauer cells, and fetal cardiomyocytes. - It is a highly expressed gene in the enterocyte of the colon. **Pathways and functions**: - GAMT is involved in multiple pathways and functions, including: - Animal organ morphogenesis - Creatine biosynthetic process - Creatine metabolic process - Muscle contraction - Regulation of multicellular organism growth - Spermatogenesis **Clinical significance**: - Mutations in the GAMT gene have been linked to various diseases, including colorectal cancer, pancreatic cancer, and hepatic diseases. - Targeting GAMT with drugs is a promising strategy for cancer therapy. **Additional notes**: - GAMT is a highly conserved gene with a significant expression in mammalian tissues. - It is regulated by various factors, including growth factors, hormones, and cytokines. - Its expression is also regulated by the methylation of its promoter region.

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 14 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 5 EC 2 EMBL 11 EPD 1 Ensembl 2 EvolutionaryTrace 1 ExpressionAtlas 1 GO 12 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 3 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OGP 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 2 PDBsum 1 PIR 1 PIRSF 1 PRO 1 PROSITE 1 PROSITE-ProRule 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 UniProtKB 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. For the full schema, download it here.