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Human Metabolome Database Version 2.5

 

Showing metabocard for Betaine (HMDB00043)

Legend: metabolite field enzyme field

Version 2.5
Creation Date 2005-11-16 15:48:42
Update Date 2010-04-08 16:27:16
Accession Number HMDB00043
Secondary Accession Numbers Not Available
Common Name Betaine
Description Betaine or trimethylglycine is a methylated derivative of glycine. It functions as a methyl donor in that it carries and donates methyl functional groups to facilitate necessary chemical processes. The donation of methyl groups is important to proper liver function, cellular replication, and detoxification reactions. Betaine also plays a role in the manufacture of carnitine and serves to protect the kidneys from damage. Betaine has also been of interest for its role in osmoregulation. As a drug, betaine hydrochloride has been used as a source of hydrochloric acid in the treatment of hypochlorhydria. Betaine has also been used in the treatment of liver disorders, for hyperkalemia, for homocystinuria, and for gastrointestinal disturbances. (From Martindale, The Extra Pharmacopoeia, 30th Ed, p1341)
Synonyms
  1. (Carboxymethyl)trimethylammonium hydroxide inner salt
  2. (Trimethylammonio)acetate
  3. 1-Carboxy-N,N,N-trimethylmethanaminium inner salt
  4. 1-carboxy-N,N,N-trimethyl-Methanaminium
  5. 1-carboxy-N,N,N-trimethyl-Methanaminium hydroxide
  6. Abromine
  7. Aminocoat
  8. Betafin
  9. Betafin BCR
  10. Betafin BP
  11. Betaine
  12. Cystadane
  13. Ektasolve EE
  14. FinnStim
  15. Glycine betaine
  16. Glycocoll betaine
  17. Glycylbetaine
  18. Greenstim
  19. Loramine AMB 13
  20. Loramine AMB-13
  21. Lycine
  22. N,N,N-Trimethylglycine
  23. Oxyneurine
  24. Rubrine C
  25. Trimethylaminoacetate
  26. Trimethylaminoacetic acid
  27. Trimethylglycine
  28. Trimethylglycocoll
  29. a-Earleine
  30. alpha-Earleine
  31. trimethylbetaine Glycine
Chemical IUPAC Name 2-trimethylammonioacetate
Chemical Formula C5H11NO2
Chemical Structure Structure
Chemical Taxonomy
Kingdom
  • Organic
Super Class
  • Amino acids and Amino Acid conjugates
Class
  • Quaternary Amines
  • Amino Acids
Sub Class
  • Short chain quaternary ammonium salts
Family
  • Mammalian Metabolite
Species
  • cation
  • anion
  • quaternary ammonium salt
  • carboxylic acid salt
Biofunction
  • Osmolyte
  • Component of Glycine, serine and threonine metabolism
  • Component of Methionine metabolism
Application
—
Source
  • Endogenous
Average Molecular Weight 117.146
Monoisotopic Molecular Weight 117.078979
Isomeric SMILES C[N+](C)(C)CC([O-])=O
Canonical SMILES C[N+](C)(C)CC([O-])=O
KEGG Compound ID C00719 Link Image
BioCyc ID BETAINE Link Image
BiGG ID 35786 Link Image
Wikipedia Link Betaine Link Image
NuGOwiki Link HMDB00043 Link Image
Metagene Link HMDB00043 Link Image
METLIN ID 287 Link Image
PubChem Compound 247 Link Image
PubChem Substance 2165 Link Image
ChEBI ID 17750 Link Image
CAS Registry Number 107-43-7
InChI Identifier InChI=1/C5H11NO2/c1-6(2,3)4-5(7)8/h4H2,1-3H3
Synthesis Reference Mu, Yun; Guo, Xiao-hui. Improved process for preparation of betaine. Huaxue Yu Shengwu Gongcheng (2005), 22(7), 48-49.
Melting Point (Experimental) 293 oC ( Soicke, H., Fitoterapia 1988, V59(1), P73-5); 301 oC dec.
Experimental Water Solubility 611.0 mg/mL at 19 oC [YALKOWSKY,SH & DANENFELSER,RM (1992)] Source: PhysProp
Predicted Water Solubility 1.86 mg/mL [Predicted by ALOGPS] Calculated using ALOGPS
Physiological Charge 0
State Solid
Experimental LogP/Hydrophobicity Not Available Source: PhysProp
Predicted LogP/Hydrophobicity -2.70 [Predicted by ALOGPS]; -4.93 [MEYLAN,WM & HOWARD,PH (1995)] Calculated using ALOGPS
Material Safety Data Sheet (MSDS)
MOL File Show
SDF File Show
PDB File Show
2D Structure
3D Structure
Experimental PDB ID Not Available
Experimental 1H NMR Spectrum Download Spectrum
Download FID (Varian)
Show Experimental Conditions Link Image
Experimental 13C NMR Spectrum Download Spectrum
Download FID (Bruker)
Show Experimental Conditions Link Image
Experimental 13C HSQC Spectrum Download Spectrum
Download FID (Bruker)
Show Experimental Conditions Link Image
Predicted 1H NMR Spectrum Show Image
Show Peaklist
Predicted 13C NMR Spectrum Show Image
Show Peaklist
Mass Spectrum
Low Energy
Download File
Show Experimental Conditions Link Image
Medium Energy
Download File
Show Experimental Conditions Link Image
High Energy
Download File
Show Experimental Conditions Link Image
Simplified TOCSY Spectrum Not Available
BMRB Spectrum Show Image
Show Peaklist
Cellular Location
  • Cytoplasm
  • Extracellular
  • mitochondria
Biofluid Location
  • Blood
  • Urine
Tissue Location
Tissue References
Adipose Tissue —
Adrenal Cortex —
Adrenal Gland —
Bladder —
Fibroblasts —
Gonads —
Gut —
Intestine —
Kidney —
Liver —
Pancreas —
Placenta —
Platelet —
Prostate —
Skeletal Muscle —
Skin —
Spleen —
Stratum Corneum —
Testes —
Concentrations (Normal)
Biofluid Blood
Value 82.0 (20.0-144.0) uM
Age Adult:>18 yrs old
Sex Both
Patient information Normal
Comments Not Available
References
  • Laryea MD, Steinhagen F, Pawliczek S, Wendel U: Simple method for the routine determination of betaine and N,N-dimethylglycine in blood and urine. Clin Chem. 1998 Sep;44(9):1937-41. [PubMed Link Image]
Biofluid Blood
Value 33.6 (23.9-42.1) uM
Age Adult:>18 yrs old
Sex Both
Patient information Normal
Comments Not Available
References
  • McGregor DO, Dellow WJ, Lever M, George PM, Robson RA, Chambers ST: Dimethylglycine accumulates in uremia and predicts elevated plasma homocysteine concentrations. Kidney Int. 2001 Jun;59(6):2267-72. [PubMed Link Image]
Biofluid Urine
Value 49.6 (6.4-92.7) umol/mmol creatinine
Age Adult:>18 yrs old
Sex Both
Patient information Normal
Comments Not Available
References
  • Laryea MD, Steinhagen F, Pawliczek S, Wendel U: Simple method for the routine determination of betaine and N,N-dimethylglycine in blood and urine. Clin Chem. 1998 Sep;44(9):1937-41. [PubMed Link Image]
Biofluid Urine
Value 18.6 (4.868-32.4) umol/mmol creatinine
Age Adult:>18 yrs old
Sex Both
Patient information Normal
Comments Not Available
References
  • Chambers ST, Kunin CM: Isolation of glycine betaine and proline betaine from human urine. Assessment of their role as osmoprotective agents for bacteria and the kidney. J Clin Invest. 1987 Mar;79(3):731-7. [PubMed Link Image]
Biofluid Urine
Value 71 +/- 26 uM
Age Adult:>18 yrs old
Sex Male
Patient information Normal
Comments Not Available
References
  • Shaykhutdinov RA, MacInnis GD, Dowlatabadi R, Weljie AM, Vogel HJ. Quantitative analysis of metabolite concentrations in human urine samples using 13C{1H} NMR spectroscopy. Metabolomics. 2009
Concentrations (Abnormal)
Biofluid Blood
Value 32.5 (23.9-42.5) uM
Age Adult:>18 yrs old
Sex Both
Condition Chronic renal failure
Comments Not Available
References
  • McGregor DO, Dellow WJ, Lever M, George PM, Robson RA, Chambers ST: Dimethylglycine accumulates in uremia and predicts elevated plasma homocysteine concentrations. Kidney Int. 2001 Jun;59(6):2267-72. [PubMed Link Image]
Biofluid Blood
Value 25.6 (23.4-36.6) uM
Age Adult:>18 yrs old
Sex Both
Condition Continuous ambulatory peritoneal dialysis
Comments Not Available
References
  • McGregor DO, Dellow WJ, Lever M, George PM, Robson RA, Chambers ST: Dimethylglycine accumulates in uremia and predicts elevated plasma homocysteine concentrations. Kidney Int. 2001 Jun;59(6):2267-72. [PubMed Link Image]
Biofluid Blood
Value 31.9 (28.3-36.2) uM
Age Adult:>18 yrs old
Sex Both
Condition Hemodialysis
Comments Not Available
References
  • McGregor DO, Dellow WJ, Lever M, George PM, Robson RA, Chambers ST: Dimethylglycine accumulates in uremia and predicts elevated plasma homocysteine concentrations. Kidney Int. 2001 Jun;59(6):2267-72. [PubMed Link Image]
Biofluid Urine
Value 6.0 (0.0-16.0) umol/mmol creatinine
Age Adult:>18 yrs old
Sex Both
Condition Lung Cancer
Comments Not Available
References
  • HMP experimental
Associated Disorders
Condition References
Chronic renal failure
  • McGregor DO, Dellow WJ, Lever M, George PM, Robson RA, Chambers ST: Dimethylglycine accumulates in uremia and predicts elevated plasma homocysteine concentrations. Kidney Int. 2001 Jun;59(6):2267-72. [PubMed Link Image]
Continuous ambulatory peritoneal dialysis
  • McGregor DO, Dellow WJ, Lever M, George PM, Robson RA, Chambers ST: Dimethylglycine accumulates in uremia and predicts elevated plasma homocysteine concentrations. Kidney Int. 2001 Jun;59(6):2267-72. [PubMed Link Image]
Hemodialysis
  • McGregor DO, Dellow WJ, Lever M, George PM, Robson RA, Chambers ST: Dimethylglycine accumulates in uremia and predicts elevated plasma homocysteine concentrations. Kidney Int. 2001 Jun;59(6):2267-72. [PubMed Link Image]
Lung Cancer
  • HMP experimental
OMIM ID
Pathways
Name SMPDB Link KEGG Link
Betaine Metabolism SMP00123 Link Image map00260 Link Image
Glycine and Serine Metabolism SMP00004 Link Image map00260 Link Image
Methionine Metabolism SMP00033 Link Image map00270 Link Image
General References
  1. Surtees R, Bowron A, Leonard J: Cerebrospinal fluid and plasma total homocysteine and related metabolites in children with cystathionine beta-synthase deficiency: the effect of treatment. Pediatr Res. 1997 Nov;42(5):577-82. [PubMed Link Image]
  2. Holm PI, Ueland PM, Kvalheim G, Lien EA: Determination of choline, betaine, and dimethylglycine in plasma by a high-throughput method based on normal-phase chromatography-tandem mass spectrometry. Clin Chem. 2003 Feb;49(2):286-94. [PubMed Link Image]
  3. Knopman D, Patterson M: An open-label, 24-week pilot study of the methyl donor betaine in Alzheimer disease patients. Alzheimer Dis Assoc Disord. 2001 Jul-Sep;15(3):162-5. [PubMed Link Image]
  4. Schwahn BC, Chen Z, Laryea MD, Wendel U, Lussier-Cacan S, Genest J Jr, Mar MH, Zeisel SH, Castro C, Garrow T, Rozen R: Homocysteine-betaine interactions in a murine model of 5,10-methylenetetrahydrofolate reductase deficiency. FASEB J. 2003 Mar;17(3):512-4. Epub 2003 Jan 22. [PubMed Link Image]
  5. Abdelmalek MF, Angulo P, Jorgensen RA, Sylvestre PB, Lindor KD: Betaine, a promising new agent for patients with nonalcoholic steatohepatitis: results of a pilot study. Am J Gastroenterol. 2001 Sep;96(9):2711-7. [PubMed Link Image]
  6. Abu Al-Soud W, Radstrom P: Effects of amplification facilitators on diagnostic PCR in the presence of blood, feces, and meat. J Clin Microbiol. 2000 Dec;38(12):4463-70. [PubMed Link Image]
  7. Sakamoto A, Ono H, Mizoguchi N, Sakura N: Betaine and homocysteine concentrations in infant formulae and breast milk. Pediatr Int. 2001 Dec;43(6):637-40. [PubMed Link Image]
  8. Schwab U, Torronen A, Toppinen L, Alfthan G, Saarinen M, Aro A, Uusitupa M: Betaine supplementation decreases plasma homocysteine concentrations but does not affect body weight, body composition, or resting energy expenditure in human subjects. Am J Clin Nutr. 2002 Nov;76(5):961-7. [PubMed Link Image]
  9. Chambers ST, Kunin CM: Isolation of glycine betaine and proline betaine from human urine. Assessment of their role as osmoprotective agents for bacteria and the kidney. J Clin Invest. 1987 Mar;79(3):731-7. [PubMed Link Image]
  10. Laryea MD, Steinhagen F, Pawliczek S, Wendel U: Simple method for the routine determination of betaine and N,N-dimethylglycine in blood and urine. Clin Chem. 1998 Sep;44(9):1937-41. [PubMed Link Image]
  11. Chung YL, Rider LG, Bell JD, Summers RM, Zemel LS, Rennebohm RM, Passo MH, Hicks J, Miller FW, Scott DL: Muscle metabolites, detected in urine by proton spectroscopy, correlate with disease damage in juvenile idiopathic inflammatory myopathies. Arthritis Rheum. 2005 Aug 15;53(4):565-70. [PubMed Link Image]
  12. Go EK, Jung KJ, Kim JY, Yu BP, Chung HY: Betaine suppresses proinflammatory signaling during aging: the involvement of nuclear factor-kappaB via nuclear factor-inducing kinase/IkappaB kinase and mitogen-activated protein kinases. J Gerontol A Biol Sci Med Sci. 2005 Oct;60(10):1252-64. [PubMed Link Image]
  13. Wikipedia Link Image
Metabolic Enzymes
  1. Choline dehydrogenase, mitochondrial precursor
  2. Betaine--homocysteine S-methyltransferase 1
  3. Sodium- and chloride-dependent betaine transporter
  4. Betaine--homocysteine S-methyltransferase 2
  5. cDNA FLJ43036 fis, clone BRTHA3002427, highly similar to Sodium- and chloride-dependent betaine transporter
  6. cDNA FLJ38727 fis, clone KIDNE2010419, highly similar to Sodium- and chloride-dependent betaine transporter
Enzyme 1 [top]
Enzyme 1 ID 5433
Enzyme 1 Name Choline dehydrogenase, mitochondrial precursor
Enzyme 1 Synonyms
  1. CHD
  2. CDH
Enzyme 1 Gene Name CHDH
Enzyme 1 Protein Sequence >Choline dehydrogenase, mitochondrial precursor 
MWCLLRGLGRPGALARGALGQQQSLGARALASAGSESRDEYSYVVVGAGSAGCVLAGRLT
EDPAERVLLLEAGPKDVRAGSKRLSWKIHMPAALVANLCDDRYNWCYHTEVQRGLDGRVL
YWPRGRVWGGSSSLNAMVYVRGHAEDYERWQRQGARGWDYAHCLPYFRKAQGHELGASRY
RGADGPLRVSRGKTNHPLHCAFLEATQQAGYPLTEDMNGFQQEGFGWMDMTIHEGKRWSA
ACAYLHPALSRTNLKAEAETLVSRVLFEGTRAVGVEYVKNGQSHRAYASKEVILSGGAIN
SPQLLMLSGIGNADDLKKLGIPVVCHLPGVGQNLQDHLEIYIQQACTRPITLHSAQKPLR
KVCIGLEWLWKFTGEGATAHLETGGFIRSQPGVPHPDIQFHFLPSQVIDHGRVPTQQEAY
QVHVGPMRGTSVGWLKLRSANPQDHPVIQPNYLSTETDIEDFRLCVKLTREIFAQEALAP
FRGKELQPGSHIQSDKEIDAFVRAKADSAYHPSCTCKMGQPSDPTAVVDPQTRVLGVENL
RVVDASIMPSMVSGNLNAPTIMIAEKAADIIKGQPALWDKDVPVYKPRTLATQR
Enzyme 1 Number of Residues 594
Enzyme 1 Molecular Weight 65402
Enzyme 1 Theoretical pI 8.47
Enzyme 1 GO Classification
Function
  • FAD binding
  • adenyl nucleotide binding
  • binding
  • catalytic activity
  • nucleotide binding
  • oxidoreductase activity
  • oxidoreductase activity, acting on CH-OH group of donors
  • purine nucleotide binding
Process
  • alcohol metabolism
  • cellular metabolism
  • electron transport
  • generation of precursor metabolites and energy
  • metabolism
  • physiological process
Component
—
Enzyme 1 General Function Amino acid transport and metabolism
Enzyme 1 Specific Function Choline + acceptor = betaine aldehyde + reduced acceptor
Enzyme 1 Pathways
  • Glycine, Serine and Threonine Metabolism (map00260 Link Image)
Enzyme 1 Reactions
  • choline + acceptor = betaine aldehyde + reduced acceptor
Enzyme 1 Pfam Domain Function
Enzyme 1 Signals
  • 1-15
Enzyme 1 Transmembrane Regions Not Available
Enzyme 1 Essentiality Not Available
Enzyme 1 GenBank ID Protein 21759795 Link Image
Enzyme 1 UniProtKB/Swiss-Prot ID Q8NE62 Link Image
Enzyme 1 UniProtKB/Swiss-Prot Entry Name CHDH_HUMAN Link Image
Enzyme 1 PDB ID Not Available
Enzyme 1 Cellular Location Not Available
Enzyme 1 Gene Sequence >1785 bp 
ATGTGGTGTCTCCTACGAGGCCTGGGCCGGCCTGGAGCCCTGGCACGGGGAGCCCTGGGG
CAGCAGCAATCCCTGGGTGCCCGGGCCCTGGCCAGCGCAGGCTCTGAGAGCCGGGACGAG
TACAGCTATGTGGTGGTGGGCGCGGGCTCGGCGGGCTGCGTGCTGGCTGGGAGGCTCACG
GAGGACCCCGCCGAGCGCGTGCTGCTGCTGGAGGCCGGGCCCAAGGACGTGCGCGCGGGG
AGCAAGCGGCTCTCGTGGAAGATCCACATGCCCGCGGCCCTGGTGGCCAACCTGTGCGAC
GACAGGTACAACTGGTGCTACCACACAGAGGTGCAGCGGGGCCTGGACGGCCGCGTGCTG
TACTGGCCACGCGGCCGCGTCTGGGGTGGCTCCTCATCCCTCAATGCCATGGTCTACGTC
CGTGGGCACGCCGAGGACTACGAGCGCTGGCAGCGCCAGGGCGCCCGCGGCTGGGACTAC
GCGCACTGCCTGCCCTACTTCCGCAAGGCGCAGGGCCACGAGCTGGGCGCCAGCCGGTAC
CGGGGCGCCGATGGCCCGCTGCGGGTGTCCCGGGGCAAGACCAACCACCCGCTGCACTGC
GCATTCCTGGAGGCCACGCAGCAGGCCGGCTACCCGCTCACCGAGGACATGAATGGCTTC
CAGCAGGAGGGCTTCGGCTGGATGGACATGACCATCCATGAAGGCAAACGGTGGAGCGCA
GCCTGTGCCTACCTGCACCCAGCACTGAGCCGCACCAACCTCAAGGCCGAGGCCGAGACG
CTTGTGAGCAGGGTGCTATTTGAGGGCACCCGTGCAGTGGGCGTGGAGTATGTCAAGAAT
GGCCAGAGCCACAGGGCTTATGCCAGCAAGGAGGTGATTCTGAGTGGAGGTGCCATCAAC
TCTCCACAGCTGCTCATGCTCTCTGGCATCGGGAATGCTGATGACCTCAAGAAACTGGGC
ATCCCTGTGGTGTGCCACCTACCTGGGGTTGGCCAGAACCTGCAAGACCACCTGGAGATC
TACATTCAGCAGGCATGCACCCGCCCTATCACCCTCCATTCAGCACAGAAGCCCCTGCGG
AAGGTCTGCATTGGTCTGGAGTGGCTCTGGAAATTCACAGGGGAGGGAGCCACTGCCCAT
CTGGAAACAGGTGGGTTCATCCGCAGCCAGCCTGGGGTCCCCCACCCGGACATCCAGTTC
CATTTCCTGCCATCCCAAGTGATTGACCACGGGCGGGTCCCCACCCAGCAGGAGGCTTAC
CAGGTACATGTGGGGCCCATGCGGGGCACGAGTGTGGGCTGGCTCAAACTGAGAAGTGCC
AATCCCCAAGACCACCCTGTGATCCAGCCCAACTACTTGTCAACAGAAACTGATATTGAG
GATTTCCGTCTGTGTGTGAAGCTCACCAGAGAAATTTTTGCACAGGAAGCCCTGGCTCCG
TTCCGAGGGAAAGAGCTCCAGCCAGGAAGCCACATTCAGTCAGATAAAGAGATAGATGCC
TTTGTGCGGGCAAAAGCCGACAGCGCCTACCACCCCTCGTGCACCTGTAAGATGGGCCAG
CCCTCCGATCCCACTGCCGTGGTGGATCCGCAGACAAGGGTCCTCGGGGTGGAAAACCTC
AGGGTCGTCGATGCCTCCATCATGCCTAGCATGGTCAGCGGCAACCTGAACGCCCCCACA
ATCATGATCGCAGAGAAGGCAGCTGACATTATCAAGGGGCAGCCTGCACTCTGGGACAAA
GATGTCCCTGTCTACAAGCCCAGGACGCTGGCCACCCAGCGCTAA
Enzyme 1 GenBank Gene ID BC034502 Link Image
Enzyme 1 GeneCard ID CHDH Link Image
Enzyme 1 GenAtlas ID CHDH Link Image
Enzyme 1 HGNC ID HGNC:24288 Link Image
Enzyme 1 Chromosome Location 3
Enzyme 1 Locus 3p21.1
Enzyme 1 SNPs SNPJam Report Link Image
Enzyme 1 General References Not Available
Enzyme 1 Metabolite References Not Available
Enzyme 2 [top]
Enzyme 2 ID 5831
Enzyme 2 Name Betaine--homocysteine S-methyltransferase 1
Enzyme 2 Synonyms Not Available
Enzyme 2 Gene Name BHMT
Enzyme 2 Protein Sequence >Betaine--homocysteine S-methyltransferase 1 
MPPVGGKKAKKGILERLNAGEIVIGDGGFVFALEKRGYVKAGPWTPEAAVEHPEAVRQLH
REFLRAGSNVMQTFTFYASEDKLENRGNYVLEKISGQEVNEAACDIARQVADEGDALVAG
GVSQTPSYLSCKSETEVKKVFLQQLEVFMKKNVDFLIAEYFEHVEEAVWAVETLIASGKP
VAATMCIGPEGDLHGVPPGECAVRLVKAGASIIGVNCHFDPTISLKTVKLMKEGLEAARL
KAHLMSQPLAYHTPDCNKQGFIDLPEFPFGLEPRVATRWDIQKYAREAYNLGVRYIGGCC
GFEPYHIRAIAEELAPERGFLPPASEKHGSWGSGLDMHTKPWVRARARKEYWENLRIASG
RPYNPSMSKPDGWGVTKGTAELMQQKEATTEQQLKELFEKQKFKSQ
Enzyme 2 Number of Residues 406
Enzyme 2 Molecular Weight 44999
Enzyme 2 Theoretical pI 7.04
Enzyme 2 GO Classification
Function
  • S-methyltransferase activity
  • catalytic activity
  • homocysteine S-methyltransferase activity
  • methyltransferase activity
  • transferase activity
  • transferase activity, transferring one-carbon groups
Process
—
Component
—
Enzyme 2 General Function Amino acid transport and metabolism
Enzyme 2 Specific Function Involved in the regulation of homocysteine metabolism. Converts betaine and homocysteine to dimethylglycine and methionine, respectively. This reaction is also required for the irreversible oxidation of choline
Enzyme 2 Pathways
Enzyme 2 Reactions
  • trimethylammonioacetate + L-homocysteine = dimethylglycine + L-methionine
Enzyme 2 Pfam Domain Function
Enzyme 2 Signals
  • None
Enzyme 2 Transmembrane Regions
  • None
Enzyme 2 Essentiality Not Available
Enzyme 2 GenBank ID Protein 1522683 Link Image
Enzyme 2 UniProtKB/Swiss-Prot ID Q93088 Link Image
Enzyme 2 UniProtKB/Swiss-Prot Entry Name BHMT1_HUMAN Link Image
Enzyme 2 PDB ID 1LT8 Link Image
Enzyme 2 PDB File Show
Enzyme 2 3D Structure
Enzyme 2 Cellular Location Not Available
Enzyme 2 Gene Sequence >1221 bp 
ATGCCACCCGTTGGGGGCAAAAAGGCCAAGAAGGGCATCCTAGAACGTTTAAATGCTGGA
GAGATTGTGATTGGAGATGGAGGGTTTGTCTTTGCACTGGAGAAGAGGGGCTACGTAAAG
GCAGGACCCTGGACTCCTGAAGCTGCTGTGGAGCACCCAGAAGCAGTTCGCCAGCTTCAT
CGAGAGTTCCTCAGAGCTGGCTCAAACGTCATGCAGACCTTCACCTTCTATGCGAGTGAA
GACAAGCTGGAGAACAGGGGCAACTATGTCTTAGAGAAGATATCTGGGCAGGAAGTCAAT
GAAGCTGCTTGCGACATCGCCCGACAAGTGGCTGATGAAGGAGATGCTTTGGTAGCAGGA
GGAGTGAGTCAGACACCTTCATACCTTAGCTGCAAGAGTGAAACTGAAGTCAAAAAAGTA
TTTCTGCAACAGTTAGAGGTCTTTATGAAGAAGAACGTGGACTTCTTGATTGCAGAGTAT
TTTGAACACGTTGAAGAAGCTGTGTGGGCAGTTGAAACCTTGATAGCATCCGGTAAACCT
GTGGCAGCAACCATGTGCATTGGCCCAGAAGGAGATTTGCATGGCGTGCCCCCCGGCGAG
TGTGCAGTGCGCCTGGTGAAAGCAGGAGCATCCATCATTGGTGTGAACTGCCACTTTGAC
CCCACCATTAGTTTAAAAACAGTGAAGCTCATGAAGGAGGGCTTGGAGGCTGCCCAACTG
AAAGCTCACCTGATGAGCCAGCCCTTGGCTTACCACACTCCTGACTGCAACAAGCAGGGA
TTCATCGATCTCCCAGAATTCCCATTTGGACTGGAACCCAGAGTTGCCACCAGATGGGAT
ATTCAAAAATACGCCAGAGAGGCCTACAACCTGGGGGTCAGGTACATTGGCGGGTGCTGT
GGATTTGAGCCCTACCACATCAGGGCAATTGCAGAGGAGCTGGCCCCAGAAAGGGGCTTT
TTGCCACCAGCTTCAGAAAAACATGGCAGCTGGGGAAGTGGTTTGGACATGCACACCAAA
CCCTGGGTTAGAGCAAGGGCCAGGAAGGAATACTGGGAGAATCTTCGGATAGCCTCAGGC
CGGCCATACAACCCTTCAATGTCAAAGCCAGATGGCTGGGGAGTGACCAAAGGAACAGCC
GAGCTGATGCAGCAGAAAGAAGCCACAACTGAGCAGCAGCTGAAAGAGCTCTTTGAAAAA
CAAAAATTCAAATCACAGTAG
Enzyme 2 GenBank Gene ID U50929 Link Image
Enzyme 2 GeneCard ID BHMT Link Image
Enzyme 2 GenAtlas ID BHMT Link Image
Enzyme 2 HGNC ID HGNC:1047 Link Image
Enzyme 2 Chromosome Location 5
Enzyme 2 Locus 5q13.1-q15
Enzyme 2 SNPs SNPJam Report Link Image
Enzyme 2 General References
  1. Garrow TA: Purification, kinetic properties, and cDNA cloning of mammalian betaine-homocysteine methyltransferase. J Biol Chem. 1996 Sep 13;271(37):22831-8. [PubMed Link Image]
  2. Park EI, Garrow TA: Interaction between dietary methionine and methyl donor intake on rat liver betaine-homocysteine methyltransferase gene expression and organization of the human gene. J Biol Chem. 1999 Mar 19;274(12):7816-24. [PubMed Link Image]
  3. Sunden SL, Renduchintala MS, Park EI, Miklasz SD, Garrow TA: Betaine-homocysteine methyltransferase expression in porcine and human tissues and chromosomal localization of the human gene. Arch Biochem Biophys. 1997 Sep 1;345(1):171-4. [PubMed Link Image]
  4. Millian NS, Garrow TA: Human betaine-homocysteine methyltransferase is a zinc metalloenzyme. Arch Biochem Biophys. 1998 Aug 1;356(1):93-8. [PubMed Link Image]
  5. Weisberg IS, Park E, Ballman KV, Berger P, Nunn M, Suh DS, Breksa AP 3rd, Garrow TA, Rozen R: Investigations of a common genetic variant in betaine-homocysteine methyltransferase (BHMT) in coronary artery disease. Atherosclerosis. 2003 Apr;167(2):205-14. [PubMed Link Image]
Enzyme 2 Metabolite References Not Available
Enzyme 3 [top]
Enzyme 3 ID 8198
Enzyme 3 Name Sodium- and chloride-dependent betaine transporter
Enzyme 3 Synonyms
  1. Na(+/Cl(-betaine/GABA transporter
  2. BGT-1
Enzyme 3 Gene Name SLC6A12
Enzyme 3 Protein Sequence >Sodium- and chloride-dependent betaine transporter 
MDGKVAVQEYGPPAVSWVPEEGEKLDQEDEDQVKDRGQWTNKMEFVLSVAGEIIGLGNVW
RFPYLCYKNGGGAFFIPYFIFFFVCGIPVFFLEVALGQYTSQGSVTAWRKICPLFQGIGL
ASVVIESYLNVYYIIILAWALFYLFSSFTSELPWTTCNNFWNTEHCTDFLNHSGAGTVTP
FENFTSPVMEFWERRVLGITSGIHDLGSLRWELALCLLLAWVICYFCIWKGVKSTGKVVY
FTATFPYLMLVILLIRGVTLPGAYQGIIYYLKPDLFRLKDPQVWMDAGTQIFFSFAICQG
CLTALGSYNKYHNNCYKDCIALCFLNSATSFVAGFVVFSILGFMSQEQGVPISEVAESGP
GLAFIAFPKAVTMMPLSQLWSCLFFIMLIFLGLDSQFVCVECLVTASIDMFPRQLRKSGR
RELLILTIAVMCYLIGLFLVTEGGMYIFQLFDYYASSGICLLFLSLFEVVCISWVYGADR
FYDNIEDMIGYRPWPLVKISWLFLTPGLCLATFLFSLSKYTPLKYNNVYVYPPWGYSIGW
FLALSSMVCVPLFVVITLLKTRGPFRKRLRQLITPDSSLPQPKQHPCLDGSAGRNFGPSP
TREGLIAGEKETHL
Enzyme 3 Number of Residues 614
Enzyme 3 Molecular Weight 69429
Enzyme 3 Theoretical pI 6.25
Enzyme 3 GO Classification
Function
  • gamma-aminobutyric acid:sodium symporter activity
  • neurotransmitter transporter activity
  • neurotransmitter:sodium symporter activity
  • organic acid transporter activity
  • organic acid:sodium symporter activity
  • sodium:amino acid symporter activity
  • transporter activity
Process
  • cellular physiological process
  • neurotransmitter transport
  • physiological process
  • transport
Component
  • cell
  • integral to membrane
  • integral to plasma membrane
  • intrinsic to membrane
  • membrane
Enzyme 3 General Function Not Available
Enzyme 3 Specific Function Transports betaine and GABA. May have a role in regulation of GABAergic transmission in the brain through the reuptake of GABA into presynaptic terminals, as well as in osmotic regulation
Enzyme 3 Pathways Not Available
Enzyme 3 Reactions Not Available
Enzyme 3 Pfam Domain Function
Enzyme 3 Signals
  • None
Enzyme 3 Transmembrane Regions
  • 45-65 73-92 117-137 211-229 238-255 291-308 320-341 374-393 423-441 458-478 499-518 538-556
Enzyme 3 Essentiality Not Available
Enzyme 3 GenBank ID Protein 881475 Link Image
Enzyme 3 UniProtKB/Swiss-Prot ID P48065 Link Image
Enzyme 3 UniProtKB/Swiss-Prot Entry Name S6A12_HUMAN Link Image
Enzyme 3 PDB ID Not Available
Enzyme 3 Cellular Location Not Available
Enzyme 3 Gene Sequence >1845 bp 
ATGGACGGGAAGGTGGCAGTGCAAGAGCGTGGGCCTCCTGCGGTCTCCTGGGTCCCCGAG
GAGGGAGAGAAGTTGGACCAGGAAGACGAGGACCAGGTGAAGGATCGGGGCCAATGGACC
AACAAGATGGAGTTTGTGCTGTCAGTGGCCGGGGAGATCATTGGGCTGGGCAATGTCTGG
AGGTTTCCCTATCTCTGCTACAAAAACGGAGGTGGAGCCTTCTTCATCCCCTACTTCATC
TTCTTCTTTGTCTGCGGCATCCCGGTGTTCTTCCTGGAGGTGGCGTTGGGCCAATACACC
AGCCAAGGGAGTGTCACAGCCTGGAGGAAGATCTGCCCCCTCTTCCAGGGCATTGGTCTG
GCATCTGTGGTCATCGAGTCATATTTGAATGTCTACTACATCATCATCCTTGCCTGGGCT
CTCTTCTACCTGTTCAGCTCCTTCACTTCTGAGCTGCCCTGGACGACCTGCAACAACTTT
TGGAACACAGAGCATTGCACGGACTTTCTGAACCACTCAGGAGCCGGCACAGTGACCCCA
TTTGAGAATTTTACCTCACCTGTCATGGAATTCTGGGAGAGACGAGTTCTGGGCATCACC
TCGGGCATCCATGACCTGGGCTCCCTGCGCTGGGAGCTGGCCCTGTGCCTCCTGCTCGCC
TGGGTCATCTGCTATTTCTGCATCTGGAAGGGGGTCAAGTCCACAGGCAAGGTGGTTTAT
TTCACAGCCACGTTTCCGTACCTGATGCTTGTCATTTTGCTGATCAGAGGTGTCACCCTT
CCCGGAGCCTACCAGGGCATCATCTACTACTTGAAGCCAGATTTGTTCCGCCTCAAGGAC
CCTCAGGTGTGGATGGATGCGGGCACCCAGATCTTCTTCTCCTTTGCCATCTGCCAGGGG
TGCCTGACAGCCCTGGGCAGCTACAACAAGTATCACAACAACTGCTACAAGGACTGCATC
GCCCTCTGCTTCCTGAACAGTGCCACCAGCTTTGTGGCTGGGTTTGTTGTCTTCTCCATC
CTGGGCTTCATGTCCCAAGAGCAAGGGGTGCCCATTTCTGAAGTGGCCGAGTCAGGTCCT
GGGCTGGCCTTCATCGCCTTCCCCAAGGCTGTGACTATGATGCCCTTATCCCAGCTGTGG
TCCTGCCTGTTCTTTATCATGCTCATATTCCTAGGGCTGGACAGCCAGTTTGTCTGTGTG
GAGTGCCTGGTGACAGCCTCCATAGACATGTTCCCCAGGCAGCTCCGGAAGAGCGGGCGG
CGCGAGCTCCTCATCCTCACCATCGCCGTCATGTGCTACCTGATAGGGCTTTTCCTGGTC
ACCGAGGGCGGGATGTACATCTTCCAGCTGTTTGACTACTATGCTTCCAGTGGCATATGC
CTGCTGTTCCTGTCATTGTTTGAAGTGGTCTGCATAAGCTGGGTGTATGGGGCGGACCGT
TTCTATGACAACATTGAGGACATGATTGGCTACCGGCCATGGCCCCTGGTGAAGATCTCC
TGGCTCTTCCTGACCCCTGGACTTTGCCTGGCCACTTTCCTCTTCTCCTTGAGCAAGTAC
ACCCCCCTCAAGTACAACAACGTCTATGTGTACCCGCCCTGGGGATACTCCATTGGCTGG
TTCCTGGCTCTGTCCTCCATGGTCTGTGTCCCACTCTTCGTCGTCATCACCCTCCTGAAG
ACTCGGGGTCCTTTCAGGAAGCGTCTGCGTCACGTCATCACCCCTGACTCCAGTCTGCCA
CAGCCCAAGCAACATCCCTGCTTGGATGGCAGTGCTGGCCGGAACTTTGGGCCCTCCCCA
ACAAGGGAAGGACTGATAGCCGGGGAGAAGGAGACCCATTTGTAG
Enzyme 3 GenBank Gene ID U27699 Link Image
Enzyme 3 GeneCard ID SLC6A12 Link Image
Enzyme 3 GenAtlas ID SLC6A12 Link Image
Enzyme 3 HGNC ID HGNC:11045 Link Image
Enzyme 3 Chromosome Location 12
Enzyme 3 Locus 12p13
Enzyme 3 SNPs SNPJam Report Link Image
Enzyme 3 General References
  1. Rasola A, Galietta LJ, Barone V, Romeo G, Bagnasco S: Molecular cloning and functional characterization of a GABA/betaine transporter from human kidney. FEBS Lett. 1995 Oct 16;373(3):229-33. [PubMed Link Image]
  2. Borden LA, Smith KE, Gustafson EL, Branchek TA, Weinshank RL: Cloning and expression of a betaine/GABA transporter from human brain. J Neurochem. 1995 Mar;64(3):977-84. [PubMed Link Image]
Enzyme 3 Metabolite References
  1. Basham JC, Chabrerie A, Kempson SA: Hypertonic activation of the renal betaine/GABA transporter is microtubule dependent. Kidney Int. 2001 Jun;59(6):2182-91. [PubMed Link Image]
Enzyme 4 [top]
Enzyme 4 ID 9885
Enzyme 4 Name Betaine--homocysteine S-methyltransferase 2
Enzyme 4 Synonyms Not Available
Enzyme 4 Gene Name BHMT2
Enzyme 4 Protein Sequence >Betaine--homocysteine S-methyltransferase 2 
MAPAGRPGAKKGILERLESGEVVIGDGSFLITLEKRGYVKAGLWTPEAVIEHPDAVRQLH
MEFLRAGSNVMQTFTFSASEDNMESKWEDVNAAACDLAREVAGKGDALVAGGICQTSIYK
YQKDEARIKKLFRQQLEVFAWKNVDFLIAEYFEHVEEAVWAVEVLKESDRPVAVTMCIGP
EGDMHDITPGECAVRLVKAGASIVGVNCRFGPDTSLKTMELMKEGLEWAGLKAHLMVQPL
GFHAPDCGKEGFVDLPEYPFGLESRVATRWDIQKYAREAYNLGVRYIGGCCGFEPYHIRA
IAEELAPERGFLPPASEKHGSWGSGLDMHTKPWIRARARREYWENLLPASGRPFCPSLSK
PDF
Enzyme 4 Number of Residues 363
Enzyme 4 Molecular Weight 40355
Enzyme 4 Theoretical pI Not Available
Enzyme 4 GO Classification
Function
  • S-methyltransferase activity
  • catalytic activity
  • homocysteine S-methyltransferase activity
  • methyltransferase activity
  • transferase activity
  • transferase activity, transferring one-carbon groups
Process
—
Component
—
Enzyme 4 General Function Amino acid transport and metabolism
Enzyme 4 Specific Function Involved in the regulation of homocysteine metabolism. Converts betaine and homocysteine to dimethylglycine and methionine, respectively. This reaction is also required for the irreversible oxidation of choline
Enzyme 4 Pathways
Enzyme 4 Reactions
  • Glycine betaine + L-Homocysteine --> N,N-Dimethylglycine + L-Methionine
Enzyme 4 Pfam Domain Function
Enzyme 4 Signals
  • None
Enzyme 4 Transmembrane Regions
  • None
Enzyme 4 Essentiality Not Available
Enzyme 4 GenBank ID Protein 11907831 Link Image
Enzyme 4 UniProtKB/Swiss-Prot ID Q9H2M3 Link Image
Enzyme 4 UniProtKB/Swiss-Prot Entry Name BHMT2_HUMAN Link Image
Enzyme 4 PDB ID Not Available
Enzyme 4 Cellular Location Not Available
Enzyme 4 Gene Sequence Not Available
Enzyme 4 GenBank Gene ID AF257473 Link Image
Enzyme 4 GeneCard ID Not Available
Enzyme 4 GenAtlas ID BHMT2 Link Image
Enzyme 4 HGNC ID HGNC:1048 Link Image
Enzyme 4 Chromosome Location Not Available
Enzyme 4 Locus Not Available
Enzyme 4 SNPs SNPJam Report Link Image
Enzyme 4 General References
  1. Chadwick LH, McCandless SE, Silverman GL, Schwartz S, Westaway D, Nadeau JH: Betaine-homocysteine methyltransferase-2: cDNA cloning, gene sequence, physical mapping, and expression of the human and mouse genes. Genomics. 2000 Nov 15;70(1):66-73. [PubMed Link Image]
Enzyme 4 Metabolite References Not Available
Enzyme 5 [top]
Enzyme 5 ID 17125
Enzyme 5 Name cDNA FLJ43036 fis, clone BRTHA3002427, highly similar to Sodium- and chloride-dependent betaine transporter
Enzyme 5 Synonyms Not Available
Enzyme 5 Gene Name Not Available
Enzyme 5 Protein Sequence >cDNA FLJ43036 fis, clone BRTHA3002427, highly similar to Sodium- and chloride-dependent betaine transporter 
MEFVLSVAGEIIGLGNVWRFPYLCYKNGGGAFFIPYFIFFFVCGIPVFFLEVALGQYTSQ
GSVTAWRKICPLFQGIGLASVVIESYLNVYYIIILAWALFYLFSSFTSELPWTTCNNFWN
TEHCTDFLNHSGAGTVTPFENFTSPVMEFWERRVLGITSGIHDLGSLRWELALCLLLAWV
ICYFCIWKGVKSTGKVVYFTATFPYLMLVILLIRGVTLPGAYQGIIYYLKPDLFRLKDPQ
VWMDAGTQIFFSFAICQGCLTALGSYNKYHNNCYKDCIALCFLNSATSFVAGFVVFSILG
FMSQEQGVPISEVAESGPGLAFIAFPKAVTMMPLSQLWSCLFFIMPIFLGLDSQFVCVEC
LVTASIDMFPRQLRKSGRRELLILTIAVMCYLIGLFLVTEGGMYIFQLFDYYASSGICLL
FLSLFEVVCISWVYGADRFYDNIEDMIGYRPWPLVKISWLFLTPGLCLATFLFSLSKYTP
LKYNNVYVYPPWGYSIGWFLALSSMVCVPLFVVITLLKTRGPFRKRLRQLITPDSSLPQP
KQHPCLDGSAGRNFGPSPTREGLIAGEKETHL
Enzyme 5 Number of Residues 572
Enzyme 5 Molecular Weight 64642
Enzyme 5 Theoretical pI 7.57
Enzyme 5 GO Classification
Function
  • gamma-aminobutyric acid:sodium symporter activity
  • neurotransmitter transporter activity
  • neurotransmitter:sodium symporter activity
  • organic acid transporter activity
  • organic acid:sodium symporter activity
  • sodium:amino acid symporter activity
  • transporter activity
Process
  • cellular physiological process
  • neurotransmitter transport
  • physiological process
  • transport
Component
  • cell
  • integral to membrane
  • integral to plasma membrane
  • intrinsic to membrane
  • membrane
Enzyme 5 General Function Not Available
Enzyme 5 Specific Function Not Available
Enzyme 5 Pathways Not Available
Enzyme 5 Reactions Not Available
Enzyme 5 Pfam Domain Function
Enzyme 5 Signals
  • None
Enzyme 5 Transmembrane Regions
  • None
Enzyme 5 Essentiality Not Available
Enzyme 5 GenBank ID Protein Not Available
Enzyme 5 UniProtKB/Swiss-Prot ID B3KWG3 Link Image
Enzyme 5 UniProtKB/Swiss-Prot Entry Name B3KWG3_HUMAN Link Image
Enzyme 5 PDB ID Not Available
Enzyme 5 Cellular Location Not Available
Enzyme 5 Gene Sequence Not Available
Enzyme 5 GenBank Gene ID AK125026 Link Image
Enzyme 5 GeneCard ID B3KWG3 Link Image
Enzyme 5 GenAtlas ID Not Available
Enzyme 5 HGNC ID Not Available
Enzyme 5 Chromosome Location Not Available
Enzyme 5 Locus Not Available
Enzyme 5 SNPs Not Available
Enzyme 5 General References Not Available
Enzyme 5 Metabolite References Not Available
Enzyme 6 [top]
Enzyme 6 ID 17126
Enzyme 6 Name cDNA FLJ38727 fis, clone KIDNE2010419, highly similar to Sodium- and chloride-dependent betaine transporter
Enzyme 6 Synonyms Not Available
Enzyme 6 Gene Name Not Available
Enzyme 6 Protein Sequence >cDNA FLJ38727 fis, clone KIDNE2010419, highly similar to Sodium- and chloride-dependent betaine transporter 
MYIFQLFDYYASSGICLLFLSLFEVVCISWVYGADRFYDNIEDMIGYRPWPLVKISWLFL
TPGLCLATFLFSLSKYTPLKYNNVYVYPPWGYSIGWFLALSSMVCVPLFVVITLLKTRGP
FRKRLRQLITPDSSLPQPKQHPCLDGSAGRNFGPSPTREGLIAGEKETHL
Enzyme 6 Number of Residues 170
Enzyme 6 Molecular Weight 19483
Enzyme 6 Theoretical pI 8.68
Enzyme 6 GO Classification
Function
  • gamma-aminobutyric acid:sodium symporter activity
  • neurotransmitter transporter activity
  • neurotransmitter:sodium symporter activity
  • organic acid transporter activity
  • organic acid:sodium symporter activity
  • sodium:amino acid symporter activity
  • transporter activity
Process
  • cellular physiological process
  • neurotransmitter transport
  • physiological process
  • transport
Component
  • cell
  • integral to membrane
  • integral to plasma membrane
  • intrinsic to membrane
  • membrane
Enzyme 6 General Function Not Available
Enzyme 6 Specific Function Not Available
Enzyme 6 Pathways Not Available
Enzyme 6 Reactions Not Available
Enzyme 6 Pfam Domain Function
Enzyme 6 Signals
  • None
Enzyme 6 Transmembrane Regions
  • None
Enzyme 6 Essentiality Not Available
Enzyme 6 GenBank ID Protein Not Available
Enzyme 6 UniProtKB/Swiss-Prot ID B3KTU1 Link Image
Enzyme 6 UniProtKB/Swiss-Prot Entry Name B3KTU1_HUMAN Link Image
Enzyme 6 PDB ID Not Available
Enzyme 6 Cellular Location Not Available
Enzyme 6 Gene Sequence Not Available
Enzyme 6 GenBank Gene ID AK096046 Link Image
Enzyme 6 GeneCard ID B3KTU1 Link Image
Enzyme 6 GenAtlas ID Not Available
Enzyme 6 HGNC ID Not Available
Enzyme 6 Chromosome Location Not Available
Enzyme 6 Locus Not Available
Enzyme 6 SNPs Not Available
Enzyme 6 General References Not Available
Enzyme 6 Metabolite References Not Available