Details for: AMT

Gene ID: 275

Symbol: AMT

Ensembl ID: ENSG00000145020

Description: aminomethyltransferase

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: primitive red blood cell (CL0002355)
    Fold Change: 2.53
    Marker Score: 1900
  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: 1
    Marker Score: 1046
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71807
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48032
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30406
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.96
    Marker Score: 495
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.95
    Marker Score: 449
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2410
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.93
    Marker Score: 5296
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2732
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.88
    Marker Score: 598
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.88
    Marker Score: 315
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5289
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 0.78
    Marker Score: 522
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1262
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 0.77
    Marker Score: 2840
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 0.76
    Marker Score: 515
  • Cell Name: acinar cell (CL0000622)
    Fold Change: 0.74
    Marker Score: 525
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.74
    Marker Score: 384
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.74
    Marker Score: 562.5
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.73
    Marker Score: 2875
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.71
    Marker Score: 647
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.71
    Marker Score: 283
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.68
    Marker Score: 2858
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.67
    Marker Score: 614
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.67
    Marker Score: 171
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 0.62
    Marker Score: 146
  • Cell Name: CD16-positive, CD56-dim natural killer cell, human (CL0000939)
    Fold Change: 0.62
    Marker Score: 479
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 0.6
    Marker Score: 1959
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 0.59
    Marker Score: 246
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.56
    Marker Score: 8714
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.55
    Marker Score: 442
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 0.53
    Marker Score: 5034
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.52
    Marker Score: 333
  • Cell Name: intestinal crypt stem cell (CL0002250)
    Fold Change: 0.51
    Marker Score: 192
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.51
    Marker Score: 334
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.48
    Marker Score: 1138
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.48
    Marker Score: 821
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 0.47
    Marker Score: 726
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.46
    Marker Score: 401
  • Cell Name: fetal cardiomyocyte (CL0002495)
    Fold Change: 0.46
    Marker Score: 152
  • Cell Name: kidney collecting duct cell (CL1001225)
    Fold Change: 0.45
    Marker Score: 88
  • Cell Name: medullary thymic epithelial cell (CL0002365)
    Fold Change: 0.44
    Marker Score: 727.5
  • Cell Name: respiratory epithelial cell (CL0002368)
    Fold Change: 0.44
    Marker Score: 241
  • Cell Name: erythroid progenitor cell, mammalian (CL0001066)
    Fold Change: 0.42
    Marker Score: 135
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 0.41
    Marker Score: 3527
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.41
    Marker Score: 14127
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 0.41
    Marker Score: 111
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.4
    Marker Score: 3553
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.4
    Marker Score: 106
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.4
    Marker Score: 24342
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 0.38
    Marker Score: 8120.5
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.37
    Marker Score: 223
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.36
    Marker Score: 179
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 0.36
    Marker Score: 13329
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: 0.36
    Marker Score: 1456
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: 0.35
    Marker Score: 418
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 0.33
    Marker Score: 12694
  • Cell Name: preosteoblast (CL0007010)
    Fold Change: 0.33
    Marker Score: 93
  • Cell Name: enteric neuron (CL0007011)
    Fold Change: 0.33
    Marker Score: 173
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.32
    Marker Score: 614
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.32
    Marker Score: 658
  • Cell Name: precursor cell (CL0011115)
    Fold Change: 0.32
    Marker Score: 78
  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: 0.32
    Marker Score: 223
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.32
    Marker Score: 363
  • Cell Name: enterocyte of colon (CL1000347)
    Fold Change: 0.32
    Marker Score: 493
  • Cell Name: ciliated columnar cell of tracheobronchial tree (CL0002145)
    Fold Change: 0.32
    Marker Score: 2755
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: 0.31
    Marker Score: 162
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 0.31
    Marker Score: 392
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 0.31
    Marker Score: 2934
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.31
    Marker Score: 3483
  • Cell Name: ciliated epithelial cell (CL0000067)
    Fold Change: 0.31
    Marker Score: 141
  • Cell Name: paneth cell (CL0000510)
    Fold Change: 0.31
    Marker Score: 214.5
  • Cell Name: epithelial cell of lower respiratory tract (CL0002632)
    Fold Change: 0.31
    Marker Score: 1281
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.31
    Marker Score: 535
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 0.3
    Marker Score: 5893
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.29
    Marker Score: 354
  • Cell Name: glandular epithelial cell (CL0000150)
    Fold Change: 0.29
    Marker Score: 715
  • Cell Name: glycinergic amacrine cell (CL4030028)
    Fold Change: 0.29
    Marker Score: 274
  • Cell Name: CD34-positive, CD38-negative hematopoietic stem cell (CL0001024)
    Fold Change: 0.29
    Marker Score: 210
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 0.29
    Marker Score: 276
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 0.28
    Marker Score: 245
  • Cell Name: neural crest cell (CL0011012)
    Fold Change: 0.28
    Marker Score: 300
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 0.28
    Marker Score: 313
  • Cell Name: alveolar type 2 fibroblast cell (CL4028006)
    Fold Change: 0.28
    Marker Score: 154
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 0.28
    Marker Score: 1147
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 0.27
    Marker Score: 174
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 0.27
    Marker Score: 4062.5
  • Cell Name: hematopoietic precursor cell (CL0008001)
    Fold Change: 0.27
    Marker Score: 95
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.27
    Marker Score: 208
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.27
    Marker Score: 4759
  • Cell Name: epithelial cell of glomerular capsule (CL1000450)
    Fold Change: 0.26
    Marker Score: 67
  • Cell Name: kidney interstitial cell (CL1000500)
    Fold Change: 0.26
    Marker Score: 186
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.26
    Marker Score: 120
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.25
    Marker Score: 2561
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 0.25
    Marker Score: 164
  • Cell Name: Bergmann glial cell (CL0000644)
    Fold Change: 0.25
    Marker Score: 100
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: 0.24
    Marker Score: 386
  • Cell Name: radial glial cell (CL0000681)
    Fold Change: 0.24
    Marker Score: 87
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.23
    Marker Score: 475

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Other Information

**Key characteristics** - Gene name: AMT - Ensembl ID: ENSG00000145020 - Protein: GCST_HUMAN - Pathway/Ontology: Aminomethyltransferase activity, Glycine catabolic process, Glycine decarboxylation via glycine cleavage system, Glycine degradation, Glyoxylate metabolism and glycine degradation, Metabolism, Metabolism of amino acids and derivatives, Mitochondrial matrix, Mitochondrion, Nucleoplasm, Transaminase activity **Pathways and functions** - The AMT enzyme is involved in multiple pathways, including the regulation of glycine catabolism, the degradation of glycine, and the detoxification of reactive oxygen species. - It plays a significant role in maintaining cellular glutathione levels by catalyzing the transfer of an amino group from glycine to other molecules, such as glutathione, resulting in the formation of cysteine. - It is also involved in the regulation of the mitochondrial matrix and the maintenance of redox balance within the cell. **Clinical significance** - Mutations in the AMT gene have been linked to several human diseases, including Balkan hereditary chorea, a rare genetic disorder characterized by progressive degeneration of the basal ganglia and a characteristic pattern of chorea. - Studies of the AMT gene have also been implicated in the pathogenesis of various cancers, including colorectal cancer, lung cancer, and hepatocellular carcinoma. - Targeting the AMT enzyme has emerged as a potential therapeutic strategy for these diseases, as it could provide a means to inhibit tumor growth and metastasis.

Genular Protein ID: 2095740534

Symbol: GCST_HUMAN

Name: N/A

UniProtKB Accession Codes:

P48728 A8K3I5 B4DE61 B4DJQ0 E9PBG1 Q96IG6

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 2 Bgee 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 4 CTD 1 ChEBI 5 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 4 EC 1 EMBL 8 EPD 1 Ensembl 4 EvolutionaryTrace 1 ExpressionAtlas 1 GO 7 Gene3D 3 GeneCards 1 GeneReviews 1 GeneTree 1 Genevisible 1 GenomeRNAi 1 HGNC 2 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 6 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 Orphanet 3 OrthoDB 1 PANTHER 2 PDB 3 PDBsum 2 PIR 1 PIRSF 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 4 RNAct 1 Reactome 1 RefSeq 4 Rhea 3 SABIO-RK 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 7916605

Title: Isolation and sequence determination of cDNA encoding human T-protein of the glycine cleavage system.

PubMed ID: 7916605

DOI: 10.1006/bbrc.1993.1480

PubMed ID: 8188235

Title: Structure and chromosomal localization of the aminomethyltransferase gene (AMT).

PubMed ID: 8188235

DOI: 10.1006/geno.1994.1007

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16641997

Title: The DNA sequence, annotation and analysis of human chromosome 3.

PubMed ID: 16641997

DOI: 10.1038/nature04728

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: 28244183

Title: Nonketotic Hyperglycinemia: functional assessment of missense variants in GLDC to understand phenotypes of the disease.

PubMed ID: 28244183

DOI: 10.1002/humu.23208

PubMed ID: 16051266

Title: Crystal structure of human T-protein of glycine cleavage system at 2.0 A resolution and its implication for understanding non-ketotic hyperglycinemia.

PubMed ID: 16051266

DOI: 10.1016/j.jmb.2005.06.056

PubMed ID: 8005589

Title: Identification of the mutations in the T-protein gene causing typical and atypical nonketotic hyperglycinemia.

PubMed ID: 8005589

DOI: 10.1007/bf00201565

PubMed ID: 9600239

Title: A missense mutation (His42Arg) in the T-protein gene from a large Israeli-Arab kindred with nonketotic hyperglycinemia.

PubMed ID: 9600239

DOI: 10.1007/s004390050716

PubMed ID: 9621520

Title: A one-base deletion (183delC) and a missense mutation (D276H) in the T-protein gene from a Japanese family with nonketotic hyperglycinemia.

PubMed ID: 9621520

DOI: 10.1007/s100380050055

PubMed ID: 10873393

Title: Biochemical and molecular investigations of patients with nonketotic hyperglycinemia.

PubMed ID: 10873393

DOI: 10.1006/mgme.2000.3000

PubMed ID: 11286506

Title: Recurrent mutations in P- and T-proteins of the glycine cleavage complex and a novel T-protein mutation (N145I): a strategy for the molecular investigation of patients with nonketotic hyperglycinemia (NKH).

PubMed ID: 11286506

DOI: 10.1006/mgme.2001.3158

PubMed ID: 26371980

Title: A novel AMT gene mutation in a newborn with nonketotic hyperglycinemia and early myoclonic encephalopathy.

PubMed ID: 26371980

DOI: 10.1016/j.ejpn.2015.08.008

Sequence Information:

  • Length: 403
  • Mass: 43946
  • Checksum: 218DC9EEADFA9102
  • Sequence:
    • MQRAVSVVAR LGFRLQAFPP ALCRPLSCAQ EVLRRTPLYD FHLAHGGKMV AFAGWSLPVQ 
YRDSHTDSHL HTRQHCSLFD VSHMLQTKIL GSDRVKLMES LVVGDIAELR PNQGTLSLFT 
NEAGGILDDL IVTNTSEGHL YVVSNAGCWE KDLALMQDKV RELQNQGRDV GLEVLDNALL 
ALQGPTAAQV LQAGVADDLR KLPFMTSAVM EVFGVSGCRV TRCGYTGEDG VEISVPVAGA 
VHLATAILKN PEVKLAGLAA RDSLRLEAGL CLYGNDIDEH TTPVEGSLSW TLGKRRRAAM 
DFPGAKVIVP QLKGRVQRRR VGLMCEGAPM RAHSPILNME GTKIGTVTSG CPSPSLKKNV 
AMGYVPCEYS RPGTMLLVEV RRKQQMAVVS KMPFVPTNYY TLK

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.