Details for: BHMT

Gene ID: 635

Symbol: BHMT

Ensembl ID: ENSG00000145692

Description: betaine--homocysteine S-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: hepatoblast (CL0005026)
    Fold Change: 14.4090
    Cell Significance Index: 242.3500
  • Cell Name: liver dendritic cell (CL2000055)
    Fold Change: 8.3019
    Cell Significance Index: 21.9000
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 7.9358
    Cell Significance Index: 67.4500
  • Cell Name: plasmablast (CL0000980)
    Fold Change: 5.3649
    Cell Significance Index: 49.7900
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 4.1098
    Cell Significance Index: 69.2300
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 3.2025
    Cell Significance Index: 166.3600
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 2.3842
    Cell Significance Index: 473.1600
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 2.3272
    Cell Significance Index: 21.4300
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 1.9964
    Cell Significance Index: 15.9400
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 1.8345
    Cell Significance Index: 112.4700
  • Cell Name: columnar/cuboidal epithelial cell (CL0000075)
    Fold Change: 1.1126
    Cell Significance Index: 4.2600
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 1.0519
    Cell Significance Index: 33.6900
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 0.8525
    Cell Significance Index: 9.9100
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.6978
    Cell Significance Index: 31.6300
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 0.6370
    Cell Significance Index: 5.3700
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 0.6314
    Cell Significance Index: 9.3200
  • Cell Name: kidney collecting duct cell (CL1001225)
    Fold Change: 0.5504
    Cell Significance Index: 1.8900
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.5371
    Cell Significance Index: 102.2100
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.3716
    Cell Significance Index: 36.7600
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: 0.3356
    Cell Significance Index: 5.5300
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.3094
    Cell Significance Index: 6.5900
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.3004
    Cell Significance Index: 271.2200
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: 0.2899
    Cell Significance Index: 22.9600
  • Cell Name: glomerular capillary endothelial cell (CL1001005)
    Fold Change: 0.2334
    Cell Significance Index: 0.8700
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.2062
    Cell Significance Index: 22.4300
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 0.1980
    Cell Significance Index: 1.1400
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.1942
    Cell Significance Index: 31.5900
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.1616
    Cell Significance Index: 9.7000
  • Cell Name: inflammatory macrophage (CL0000863)
    Fold Change: 0.1588
    Cell Significance Index: 1.2200
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 0.1557
    Cell Significance Index: 1.1900
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.1430
    Cell Significance Index: 25.7800
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.1237
    Cell Significance Index: 2.1200
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.1040
    Cell Significance Index: 7.2000
  • Cell Name: urothelial cell (CL0000731)
    Fold Change: 0.0774
    Cell Significance Index: 0.5400
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 0.0686
    Cell Significance Index: 2.1700
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.0583
    Cell Significance Index: 1.2100
  • Cell Name: adipocyte of breast (CL0002617)
    Fold Change: 0.0556
    Cell Significance Index: 0.7000
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 0.0512
    Cell Significance Index: 1.0000
  • Cell Name: cholangiocyte (CL1000488)
    Fold Change: 0.0466
    Cell Significance Index: 0.4600
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.0461
    Cell Significance Index: 5.6700
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.0376
    Cell Significance Index: 4.3800
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0370
    Cell Significance Index: 7.4300
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 0.0351
    Cell Significance Index: 0.5000
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.0338
    Cell Significance Index: 0.9100
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.0330
    Cell Significance Index: 1.8500
  • Cell Name: endothelial cell of hepatic sinusoid (CL1000398)
    Fold Change: 0.0326
    Cell Significance Index: 0.3100
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.0259
    Cell Significance Index: 0.2100
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.0164
    Cell Significance Index: 0.1700
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: 0.0143
    Cell Significance Index: 0.2100
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0132
    Cell Significance Index: 9.6700
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0132
    Cell Significance Index: 0.3800
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0124
    Cell Significance Index: 1.5900
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0117
    Cell Significance Index: 22.0500
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0072
    Cell Significance Index: 11.0600
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0070
    Cell Significance Index: 12.9200
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0063
    Cell Significance Index: 3.9900
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0050
    Cell Significance Index: 6.8500
  • Cell Name: subcutaneous adipocyte (CL0002521)
    Fold Change: 0.0023
    Cell Significance Index: 0.0100
  • Cell Name: thymocyte (CL0000893)
    Fold Change: 0.0016
    Cell Significance Index: 0.0200
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0012
    Cell Significance Index: 0.4300
  • Cell Name: endothelial cell of pericentral hepatic sinusoid (CL0019022)
    Fold Change: 0.0000
    Cell Significance Index: 0.0000
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0000
    Cell Significance Index: 0.0000
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.0003
    Cell Significance Index: -0.0100
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0010
    Cell Significance Index: -0.4700
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0015
    Cell Significance Index: -0.2200
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0017
    Cell Significance Index: -0.9300
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0018
    Cell Significance Index: -0.1800
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: -0.0022
    Cell Significance Index: -0.0200
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0022
    Cell Significance Index: -1.2300
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0024
    Cell Significance Index: -1.8000
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0030
    Cell Significance Index: -2.2500
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.0042
    Cell Significance Index: -0.1600
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.0055
    Cell Significance Index: -0.1200
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: -0.0061
    Cell Significance Index: -0.0400
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0068
    Cell Significance Index: -1.9500
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0068
    Cell Significance Index: -1.1600
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0076
    Cell Significance Index: -1.0400
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0088
    Cell Significance Index: -0.3900
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0104
    Cell Significance Index: -2.1900
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0152
    Cell Significance Index: -1.1700
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0164
    Cell Significance Index: -1.1000
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0168
    Cell Significance Index: -1.7500
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0179
    Cell Significance Index: -2.0500
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: -0.0186
    Cell Significance Index: -0.4500
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.0224
    Cell Significance Index: -0.5600
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.0232
    Cell Significance Index: -0.7400
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0243
    Cell Significance Index: -1.2300
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.0249
    Cell Significance Index: -1.5700
  • Cell Name: P/D1 enteroendocrine cell (CL0002268)
    Fold Change: -0.0268
    Cell Significance Index: -0.3000
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0285
    Cell Significance Index: -1.7500
  • Cell Name: intrahepatic cholangiocyte (CL0002538)
    Fold Change: -0.0325
    Cell Significance Index: -0.1200
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.0352
    Cell Significance Index: -0.5300
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.0378
    Cell Significance Index: -0.9700
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0381
    Cell Significance Index: -1.7900
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0384
    Cell Significance Index: -1.7900
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.0394
    Cell Significance Index: -2.0700
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.0396
    Cell Significance Index: -1.1300
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.0409
    Cell Significance Index: -1.3400
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.0422
    Cell Significance Index: -1.4800
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: -0.0500
    Cell Significance Index: -0.7600

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. **Enzyme Activity:** BHMT is a methyltransferase enzyme that catalyzes the conversion of homocysteine to betaine, a reaction that is essential for maintaining proper methionine levels in the body. 2. **Substrate Specificity:** BHMT has a high specificity for homocysteine as its substrate, making it a critical regulatory point in methionine metabolism. 3. **Co-factor Requirement:** BHMT requires SAMe as a co-factor for its enzymatic activity, highlighting the importance of this molecule in methionine metabolism. 4. **Tissue Expression:** The BHMT gene is widely expressed in various tissues, including the retina, liver, and kidney, indicating its importance in maintaining cellular homeostasis. **Pathways and Functions:** 1. **Methionine Metabolism:** BHMT is a key enzyme in the methionine salvage pathway, which allows for the regeneration of methionine from homocysteine and betaine. 2. **One-Carbon Metabolism:** BHMT is also involved in one-carbon metabolism, a critical pathway for the synthesis of nucleotides, amino acids, and other biomolecules. 3. **Betaine Metabolism:** BHMT plays a key role in the metabolism of betaine, a molecule that serves as a methyl donor in various cellular processes. 4. **Regulation of Homocysteine Metabolism:** BHMT helps regulate homocysteine levels in the body by converting it to betaine, a reaction that is essential for maintaining proper homocysteine homeostasis. **Clinical Significance:** Dysregulation of BHMT activity has been implicated in various diseases, including: 1. **Homocystinuria:** A genetic disorder characterized by elevated homocysteine levels, which can lead to cardiovascular disease, stroke, and other complications. 2. **Methylation Disorders:** BHMT dysfunction has been linked to various methylation disorders, including neurological and psychiatric conditions. 3. **Cancer:** BHMT has been shown to play a role in cancer development and progression, particularly in the context of one-carbon metabolism and DNA methylation. 4. **Neurodegenerative Diseases:** BHMT has been implicated in the pathogenesis of neurodegenerative diseases, including Alzheimer's disease and Parkinson's disease. In conclusion, the BHMT gene plays a critical role in methionine metabolism, one-carbon metabolism, and betaine metabolism, highlighting its importance in maintaining cellular homeostasis and overall health. Dysregulation of BHMT activity has been implicated in various diseases, emphasizing the need for further research into the molecular mechanisms underlying BHMT function and its clinical significance.

Genular Protein ID: 3674512377

Symbol: BHMT1_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q93088 Q9UNI9

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BindingDB 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 ChEBI 8 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 3 EC 1 EMBL 10 EMDB 1 Ensembl 1 EvolutionaryTrace 1 ExpressionAtlas 1 GO 11 Gene3D 1 GeneCards 1 GeneTree 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 1 MINT 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PDB 4 PDBsum 4 PIRSF 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 Reactome 2 RefSeq 1 Rhea 2 SABIO-RK 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UniPathway 2 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 8798461

Title: Purification, kinetic properties, and cDNA cloning of mammalian betaine-homocysteine methyltransferase.

PubMed ID: 8798461

DOI: 10.1074/jbc.271.37.22831

PubMed ID: 10075673

Title: Interaction between dietary methionine and methyl donor intake on rat liver betaine-homocysteine methyltransferase gene expression and organization of the human gene.

PubMed ID: 10075673

DOI: 10.1074/jbc.274.12.7816

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: 9281325

Title: Betaine-homocysteine methyltransferase expression in porcine and human tissues and chromosomal localization of the human gene.

PubMed ID: 9281325

DOI: 10.1006/abbi.1997.0246

PubMed ID: 9681996

Title: Human betaine-homocysteine methyltransferase is a zinc metalloenzyme.

PubMed ID: 9681996

DOI: 10.1006/abbi.1998.0757

PubMed ID: 10529246

Title: Recombinant human liver betaine-homocysteine S-methyltransferase: identification of three cysteine residues critical for zinc binding.

PubMed ID: 10529246

DOI: 10.1021/bi991003v

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: 12220488

Title: Betaine-homocysteine methyltransferase: zinc in a distorted barrel.

PubMed ID: 12220488

DOI: 10.1016/s0969-2126(02)00796-7

PubMed ID: 12818402

Title: Investigations of a common genetic variant in betaine-homocysteine methyltransferase (BHMT) in coronary artery disease.

PubMed ID: 12818402

DOI: 10.1016/s0021-9150(03)00010-8

Sequence Information:

  • Length: 406
  • Mass: 44998
  • Checksum: 557855B8CEDD0D54
  • Sequence:
    • MPPVGGKKAK KGILERLNAG EIVIGDGGFV FALEKRGYVK AGPWTPEAAV EHPEAVRQLH 
REFLRAGSNV MQTFTFYASE DKLENRGNYV LEKISGQEVN EAACDIARQV ADEGDALVAG 
GVSQTPSYLS CKSETEVKKV FLQQLEVFMK KNVDFLIAEY FEHVEEAVWA VETLIASGKP 
VAATMCIGPE GDLHGVPPGE CAVRLVKAGA SIIGVNCHFD PTISLKTVKL MKEGLEAARL 
KAHLMSQPLA YHTPDCNKQG FIDLPEFPFG LEPRVATRWD IQKYAREAYN LGVRYIGGCC 
GFEPYHIRAI AEELAPERGF LPPASEKHGS WGSGLDMHTK PWVRARARKE YWENLRIASG 
RPYNPSMSKP DGWGVTKGTA ELMQQKEATT EQQLKELFEK QKFKSQ

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.