Details for: BHMT

Gene ID: 635

Symbol: BHMT

Ensembl ID: ENSG00000145692

Description: betaine--homocysteine S-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: retina horizontal cell (CL0000745)
    Fold Change: 4.94
    Marker Score: 4732.5
  • Cell Name: retinal cone cell (CL0000573)
    Fold Change: 3.35
    Marker Score: 9612
  • Cell Name: OFF-bipolar cell (CL0000750)
    Fold Change: 3.14
    Marker Score: 9318
  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: 3
    Marker Score: 25331
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 2.2
    Marker Score: 7825
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 2.16
    Marker Score: 11630
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 2.03
    Marker Score: 6648
  • Cell Name: P/D1 enteroendocrine cell (CL0002268)
    Fold Change: 2.03
    Marker Score: 755
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 1.88
    Marker Score: 12108
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 1.72
    Marker Score: 7407
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.61
    Marker Score: 1169
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 1.37
    Marker Score: 869
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 1.35
    Marker Score: 1350
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 1.26
    Marker Score: 854
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.11
    Marker Score: 1642
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 1.09
    Marker Score: 7254
  • Cell Name: endothelial cell of pericentral hepatic sinusoid (CL0019022)
    Fold Change: 1.09
    Marker Score: 1163
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 1.01
    Marker Score: 692
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 1.01
    Marker Score: 1912
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71825
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48050
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.99
    Marker Score: 412
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.99
    Marker Score: 508.5
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30408
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.98
    Marker Score: 462
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2412
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.94
    Marker Score: 5336
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.93
    Marker Score: 374
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.92
    Marker Score: 424
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.92
    Marker Score: 2743
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.91
    Marker Score: 326
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5296
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.86
    Marker Score: 1750.5
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.85
    Marker Score: 652
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.85
    Marker Score: 2009
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.78
    Marker Score: 710
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1261
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.77
    Marker Score: 12001
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.77
    Marker Score: 397
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.75
    Marker Score: 3153
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.72
    Marker Score: 462
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.7
    Marker Score: 179
  • Cell Name: inflammatory macrophage (CL0000863)
    Fold Change: 0.66
    Marker Score: 206
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.63
    Marker Score: 414
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 0.57
    Marker Score: 1428
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.56
    Marker Score: 149
  • Cell Name: B cell (CL0000236)
    Fold Change: 0.56
    Marker Score: 535
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.56
    Marker Score: 443
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 0.55
    Marker Score: 368
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.55
    Marker Score: 174
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.51
    Marker Score: 306
  • Cell Name: Kupffer cell (CL0000091)
    Fold Change: 0.51
    Marker Score: 507
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 0.5
    Marker Score: 434
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 0.49
    Marker Score: 475
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 0.45
    Marker Score: 948.5
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: 0.45
    Marker Score: 171
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 0.44
    Marker Score: 624
  • Cell Name: endothelial cell of periportal hepatic sinusoid (CL0019021)
    Fold Change: 0.41
    Marker Score: 114
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 0.41
    Marker Score: 797
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.4
    Marker Score: 312
  • Cell Name: cholangiocyte (CL1000488)
    Fold Change: 0.39
    Marker Score: 146.5
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 0.39
    Marker Score: 417
  • Cell Name: renal interstitial pericyte (CL1001318)
    Fold Change: 0.38
    Marker Score: 361
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.38
    Marker Score: 158
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.37
    Marker Score: 372
  • Cell Name: peritubular capillary endothelial cell (CL1001033)
    Fold Change: 0.36
    Marker Score: 84
  • Cell Name: mononuclear phagocyte (CL0000113)
    Fold Change: 0.35
    Marker Score: 355
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 0.35
    Marker Score: 126
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.31
    Marker Score: 177
  • Cell Name: epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 0.27
    Marker Score: 123
  • Cell Name: kidney collecting duct cell (CL1001225)
    Fold Change: 0.26
    Marker Score: 50
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.25
    Marker Score: 119
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.25
    Marker Score: 109
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.24
    Marker Score: 243
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.23
    Marker Score: 65
  • Cell Name: M cell of gut (CL0000682)
    Fold Change: 0.23
    Marker Score: 59
  • Cell Name: retinal pigment epithelial cell (CL0002586)
    Fold Change: 0.22
    Marker Score: 66
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.22
    Marker Score: 382
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.22
    Marker Score: 74
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.21
    Marker Score: 128
  • Cell Name: neuroendocrine cell (CL0000165)
    Fold Change: 0.21
    Marker Score: 83
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 0.21
    Marker Score: 568
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: 0.21
    Marker Score: 117
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 0.21
    Marker Score: 111
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 0.21
    Marker Score: 49
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.2
    Marker Score: 855
  • Cell Name: leukocyte (CL0000738)
    Fold Change: 0.2
    Marker Score: 117
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 0.2
    Marker Score: 216
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: 0.2
    Marker Score: 323
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 0.2
    Marker Score: 333
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.19
    Marker Score: 100
  • Cell Name: renal intercalated cell (CL0005010)
    Fold Change: 0.19
    Marker Score: 101
  • Cell Name: epithelial cell of glomerular capsule (CL1000450)
    Fold Change: 0.18
    Marker Score: 47
  • Cell Name: podocyte (CL0000653)
    Fold Change: 0.18
    Marker Score: 67
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.17
    Marker Score: 10638
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.17
    Marker Score: 101
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.17
    Marker Score: 42.5
  • Cell Name: melanocyte (CL0000148)
    Fold Change: 0.17
    Marker Score: 69
  • Cell Name: pericyte (CL0000669)
    Fold Change: 0.17
    Marker Score: 98
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 0.16
    Marker Score: 174

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Other Information

**Key characteristics:** - It is a single-exon gene with a single protein product. - It is highly expressed in the retina, where it is involved in the synthesis of retinal carotenoids. - It is also expressed in other tissues, such as epithelial cells, hepatocytes, and P/D1 enteroendocrine cells. **Pathways and functions:** - The BHMT gene is involved in the de novo l-methionine biosynthetic process, the amino-acid betaine catabolic process, and the amino-acid betaine metabolic process. - It is involved in the metabolism of choline, a precursor to betaine. - It is involved in the regulation of homocysteine metabolic process. - It is involved in the sulfur amino acid metabolism. - It is involved in the regulation of the zinc ion binding in the nucleus. **Clinical significance:** - Mutations in the BHMT gene have been linked to several eye diseases, including retinitis pigmentosa and macular dystrophy. - BHMT inhibitors are being investigated as potential treatments for these diseases.

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 EPD 1 Ensembl 1 EvolutionaryTrace 1 ExpressionAtlas 1 GO 11 Gene3D 1 GeneCards 1 GeneTree 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HPA 1 InParanoid 1 IntAct 1 InterPro 3 KEGG 1 MANE-Select 1 MIM 1 MINT 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PDB 7 PDBsum 4 PIRSF 1 PRO 1 PROSITE 1 PROSITE-ProRule 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 UniProtKB 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. For the full schema, download it here.