Details for: GATM

Gene ID: 2628

Symbol: GATM

Ensembl ID: ENSG00000171766

Description: glycine amidinotransferase

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: 160.4678
    Cell Significance Index: -24.9600
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 92.1372
    Cell Significance Index: -23.3700
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 53.1929
    Cell Significance Index: -21.6100
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 20.2440
    Cell Significance Index: -24.9600
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 7.7631
    Cell Significance Index: 204.1300
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 4.4023
    Cell Significance Index: 513.0400
  • Cell Name: theca cell (CL0000503)
    Fold Change: 3.4366
    Cell Significance Index: 20.1900
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 3.1997
    Cell Significance Index: 546.3600
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 3.0956
    Cell Significance Index: 306.2300
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 2.0677
    Cell Significance Index: 34.8300
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 1.2583
    Cell Significance Index: 136.8700
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.9950
    Cell Significance Index: 46.3900
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 0.6545
    Cell Significance Index: 9.6600
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 0.6333
    Cell Significance Index: 8.1100
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.6312
    Cell Significance Index: 44.6400
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: 0.6211
    Cell Significance Index: 49.2000
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.6114
    Cell Significance Index: 17.6200
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.5708
    Cell Significance Index: 515.3500
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.5261
    Cell Significance Index: 27.3300
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.5064
    Cell Significance Index: 10.9700
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.4963
    Cell Significance Index: 219.4300
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.4637
    Cell Significance Index: 92.0300
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.3999
    Cell Significance Index: 49.1800
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 0.3866
    Cell Significance Index: 3.5600
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: 0.3742
    Cell Significance Index: 42.7100
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.3721
    Cell Significance Index: 67.0800
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: 0.3509
    Cell Significance Index: 5.3300
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.3240
    Cell Significance Index: 64.9900
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.2147
    Cell Significance Index: 40.8600
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 0.2127
    Cell Significance Index: 1.2300
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 0.2117
    Cell Significance Index: 3.2800
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.1709
    Cell Significance Index: 19.5800
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.1648
    Cell Significance Index: 11.0800
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.1289
    Cell Significance Index: 20.9700
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.1179
    Cell Significance Index: 13.9000
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.1142
    Cell Significance Index: 8.5100
  • Cell Name: thyroid follicular cell (CL0002258)
    Fold Change: 0.0762
    Cell Significance Index: 0.8100
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.0704
    Cell Significance Index: 1.7600
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0189
    Cell Significance Index: 13.8400
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0098
    Cell Significance Index: 18.5100
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0085
    Cell Significance Index: 0.3000
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0081
    Cell Significance Index: 2.9100
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0002
    Cell Significance Index: 0.4600
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0019
    Cell Significance Index: -0.2400
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0032
    Cell Significance Index: -4.9900
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.0064
    Cell Significance Index: -0.1100
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: -0.0067
    Cell Significance Index: -4.6000
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0071
    Cell Significance Index: -3.8600
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0108
    Cell Significance Index: -7.9700
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: -0.0123
    Cell Significance Index: -0.1000
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0149
    Cell Significance Index: -20.3000
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0254
    Cell Significance Index: -2.6400
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0263
    Cell Significance Index: -16.4100
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0288
    Cell Significance Index: -18.2800
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0330
    Cell Significance Index: -24.9700
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0360
    Cell Significance Index: -20.3200
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0447
    Cell Significance Index: -20.2800
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0525
    Cell Significance Index: -5.3600
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: -0.0589
    Cell Significance Index: -0.4500
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0660
    Cell Significance Index: -18.9800
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0830
    Cell Significance Index: -3.7600
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0941
    Cell Significance Index: -19.8300
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.1072
    Cell Significance Index: -1.1100
  • Cell Name: kidney cell (CL1000497)
    Fold Change: -0.1146
    Cell Significance Index: -0.9100
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.1235
    Cell Significance Index: -16.9600
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1356
    Cell Significance Index: -19.7100
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.1421
    Cell Significance Index: -18.2200
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.1497
    Cell Significance Index: -11.4900
  • Cell Name: hippocampal astrocyte (CL0002604)
    Fold Change: -0.2017
    Cell Significance Index: -2.8200
  • Cell Name: intrahepatic cholangiocyte (CL0002538)
    Fold Change: -0.2297
    Cell Significance Index: -0.8700
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.2310
    Cell Significance Index: -7.4000
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.2418
    Cell Significance Index: -13.5700
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.2487
    Cell Significance Index: -6.9500
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.2572
    Cell Significance Index: -12.0900
  • Cell Name: glioblast (CL0000030)
    Fold Change: -0.2691
    Cell Significance Index: -1.6900
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.2697
    Cell Significance Index: -14.0500
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.2902
    Cell Significance Index: -17.7900
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.3041
    Cell Significance Index: -13.4500
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.3136
    Cell Significance Index: -8.3900
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.3598
    Cell Significance Index: -18.8900
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.3887
    Cell Significance Index: -25.0800
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.3978
    Cell Significance Index: -15.0700
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.4117
    Cell Significance Index: -25.9500
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.4224
    Cell Significance Index: -10.7900
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.4305
    Cell Significance Index: -26.4600
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: -0.4859
    Cell Significance Index: -5.2100
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.4994
    Cell Significance Index: -14.2500
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: -0.5149
    Cell Significance Index: -8.6600
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.5405
    Cell Significance Index: -19.8400
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.5461
    Cell Significance Index: -8.2300
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: -0.5466
    Cell Significance Index: -9.4500
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.6078
    Cell Significance Index: -21.1200
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.6305
    Cell Significance Index: -18.5700
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: -0.6333
    Cell Significance Index: -3.0800
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.6403
    Cell Significance Index: -32.3600
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.6585
    Cell Significance Index: -23.0700
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.6610
    Cell Significance Index: -16.5100
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.6719
    Cell Significance Index: -17.2700
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: -0.7189
    Cell Significance Index: -6.0600
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.7315
    Cell Significance Index: -23.9500

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:** GATM is a mitochondrial enzyme that catalyzes the transfer of an amidino group from glycine to α-ketoglutarate, producing glutamate and glutamic acid. This reaction is a crucial step in the synthesis of creatine, a high-energy compound essential for muscle function and thermogenesis. GATM is also involved in the regulation of cold-induced thermogenesis, a process that allows the body to generate heat in response to cold temperatures. **Pathways and Functions:** GATM is integral to several metabolic pathways, including: 1. **Creatine biosynthetic process:** GATM is responsible for the conversion of glycine and α-ketoglutarate to glutamate and glutamic acid, which are then used to produce creatine. 2. **Creatine metabolic process:** GATM plays a critical role in the regulation of creatine levels, which is essential for muscle function, exercise performance, and thermogenesis. 3. **Metabolism of amino acids and derivatives:** GATM is involved in the metabolism of various amino acids, including glycine, glutamate, and glutamic acid. 4. **Mitochondrial inner membrane and intermembrane space:** GATM is localized to the mitochondrial inner membrane and intermembrane space, where it regulates the metabolism of fatty acids and other lipids. **Clinical Significance:** GATM has been implicated in various diseases and disorders, including: 1. **Muscle atrophy:** GATM deficiency has been linked to muscle atrophy, a condition characterized by muscle wasting and weakness. 2. **Thermogenic disorders:** GATM dysfunction has been associated with thermogenic disorders, such as obesity and metabolic syndrome. 3. **Neurological disorders:** GATM has been implicated in the pathogenesis of neurological disorders, including Parkinson's disease and Alzheimer's disease. In conclusion, GATM is a multifaceted gene that plays a critical role in amino acid metabolism, creatine biosynthesis, and thermogenesis. Its dysfunction has been linked to various diseases and disorders, highlighting the importance of GATM in maintaining cellular homeostasis and overall health. Further research is necessary to fully elucidate the mechanisms underlying GATM's role in disease and to develop therapeutic strategies for targeting this gene.

Genular Protein ID: 3339192597

Symbol: GATM_HUMAN

Name: Glycine amidinotransferase, mitochondrial

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 8313955

Title: The amino acid sequences of human and pig L-arginine:glycine amidinotransferase.

PubMed ID: 8313955

DOI: 10.1016/0014-5793(94)80394-3

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16572171

Title: Analysis of the DNA sequence and duplication history of human chromosome 15.

PubMed ID: 16572171

DOI: 10.1038/nature04601

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: 3800397

Title: The purification and characterization of human kidney L-arginine:glycine amidinotransferase.

PubMed ID: 3800397

DOI: 10.1016/0003-9861(86)90385-1

PubMed ID: 9148748

Title: Recombinant expression and isolation of human L-arginine:glycine amidinotransferase and identification of its active-site cysteine residue.

PubMed ID: 9148748

DOI: 10.1042/bj3220771

PubMed ID: 9165070

Title: Structure and reaction mechanism of L-arginine:glycine amidinotransferase.

PubMed ID: 9165070

PubMed ID: 16820567

Title: Myocardial expression of the arginine:glycine amidinotransferase gene is elevated in heart failure and normalized after recovery: potential implications for local creatine synthesis.

PubMed ID: 16820567

DOI: 10.1161/circulationaha.105.000448

PubMed ID: 16125225

Title: Unbalanced placental expression of imprinted genes in human intrauterine growth restriction.

PubMed ID: 16125225

DOI: 10.1016/j.placenta.2005.07.004

PubMed ID: 16614068

Title: Limited evolutionary conservation of imprinting in the human placenta.

PubMed ID: 16614068

DOI: 10.1073/pnas.0511031103

PubMed ID: 19608861

Title: Lysine acetylation targets protein complexes and co-regulates major cellular functions.

PubMed ID: 19608861

DOI: 10.1126/science.1175371

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 36543883

Title: Guanidino acid hydrolysis by the human enzyme annotated as agmatinase.

PubMed ID: 36543883

DOI: 10.1038/s41598-022-26655-4

PubMed ID: 9218780

Title: Crystal structure and mechanism of human L-arginine:glycine amidinotransferase: a mitochondrial enzyme involved in creatine biosynthesis.

PubMed ID: 9218780

DOI: 10.1093/emboj/16.12.3373

PubMed ID: 9266688

Title: Substrate binding and catalysis by L-arginine:glycine amidinotransferase -- a mutagenesis and crystallographic study.

PubMed ID: 9266688

DOI: 10.1111/j.1432-1033.1997.00483.x

PubMed ID: 9915841

Title: The ligand-induced structural changes of human L-arginine:glycine amidinotransferase. A mutational and crystallographic study.

PubMed ID: 9915841

DOI: 10.1074/jbc.274.5.3026

PubMed ID: 11555793

Title: Arginine:glycine amidinotransferase deficiency: the third inborn error of creatine metabolism in humans.

PubMed ID: 11555793

DOI: 10.1086/323765

PubMed ID: 20682460

Title: l-arginine:glycine amidinotransferase (AGAT) deficiency: clinical presentation and response to treatment in two patients with a novel mutation.

PubMed ID: 20682460

DOI: 10.1016/j.ymgme.2010.06.021

PubMed ID: 22386973

Title: Developmental progress and creatine restoration upon long-term creatine supplementation of a patient with arginine:glycine amidinotransferase deficiency.

PubMed ID: 22386973

DOI: 10.1016/j.ymgme.2012.01.017

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: 23770102

Title: Creatine deficiency syndrome. A treatable myopathy due to arginine-glycine amidinotransferase (AGAT) deficiency.

PubMed ID: 23770102

DOI: 10.1016/j.nmd.2013.04.011

PubMed ID: 26490222

Title: Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwide.

PubMed ID: 26490222

DOI: 10.1016/j.ymgme.2015.10.003

PubMed ID: 27233232

Title: Arginine-Glycine Amidinotransferase Deficiency and Functional Characterization of Missense Variants in GATM.

PubMed ID: 27233232

DOI: 10.1002/humu.23018

PubMed ID: 29654216

Title: Glycine amidinotransferase (GATM), renal Fanconi syndrome, and kidney failure.

PubMed ID: 29654216

DOI: 10.1681/asn.2017111179

Sequence Information:

  • Length: 423
  • Mass: 48455
  • Checksum: 5BEF7A8A039B70FB
  • Sequence:
  • MLRVRCLRGG SRGAEAVHYI GSRLGRTLTG WVQRTFQSTQ AATASSRNSC AADDKATEPL 
    PKDCPVSSYN EWDPLEEVIV GRAENACVPP FTIEVKANTY EKYWPFYQKQ GGHYFPKDHL 
    KKAVAEIEEM CNILKTEGVT VRRPDPIDWS LKYKTPDFES TGLYSAMPRD ILIVVGNEII 
    EAPMAWRSRF FEYRAYRSII KDYFHRGAKW TTAPKPTMAD ELYNQDYPIH SVEDRHKLAA 
    QGKFVTTEFE PCFDAADFIR AGRDIFAQRS QVTNYLGIEW MRRHLAPDYR VHIISFKDPN 
    PMHIDATFNI IGPGIVLSNP DRPCHQIDLF KKAGWTIITP PTPIIPDDHP LWMSSKWLSM 
    NVLMLDEKRV MVDANEVPIQ KMFEKLGITT IKVNIRNANS LGGGFHCWTC DVRRRGTLQS 
    YLD

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.