Seroatlas · Human Serome Atlas

BHMT

Betaine--homocysteine S-methyltransferase 1

Also known as: BHMT1, BHMT1_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q93088
Gene
BHMT
Ensembl
ENSG00000145692
Chromosome
5
Canonical length
406 aa
Protein class
Enzymes, FDA approved drug targets, Metabolic proteins, Plasma proteins, Predicted intracellular proteins
Subcellular location
Cytosol
Quaternary structure
Homotetramer

OverviewNCBI Gene

This gene encodes a cytosolic enzyme that catalyzes the conversion of betaine and homocysteine to dimethylglycine and methionine, respectively. Defects in this gene could lead to hyperhomocyst(e)inemia, but such a defect has not yet been observed. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

406 residues, UniProt reviewed canonical sequence.

>Q93088|BHMT
     1  MPPVGGKKAK KGILERLNAG EIVIGDGGFV FALEKRGYVK AGPWTPEAAV EHPEAVRQLH
    61  REFLRAGSNV MQTFTFYASE DKLENRGNYV LEKISGQEVN EAACDIARQV ADEGDALVAG
   121  GVSQTPSYLS CKSETEVKKV FLQQLEVFMK KNVDFLIAEY FEHVEEAVWA VETLIASGKP
   181  VAATMCIGPE GDLHGVPPGE CAVRLVKAGA SIIGVNCHFD PTISLKTVKL MKEGLEAARL
   241  KAHLMSQPLA YHTPDCNKQG FIDLPEFPFG LEPRVATRWD IQKYAREAYN LGVRYIGGCC
   301  GFEPYHIRAI AEELAPERGF LPPASEKHGS WGSGLDMHTK PWVRARARKE YWENLRIASG
   361  RPYNPSMSKP DGWGVTKGTA ELMQQKEATT EQQLKELFEK QKFKSQ

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against BHMT can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.25
Highest tissue expression
1,068 nTPM

Expression across tissuesHPA

Tissue

  • liver: 1,068 nTPM
  • kidney: 727 nTPM
  • urinary bladder: 11 nTPM
  • stomach: 3 nTPM
  • epididymis: 1.7 nTPM
  • duodenum: 1.1 nTPM

Single-cell type

  • hepatocytes: 935 nCPM
  • proximal tubule cells: 421 nCPM
  • urothelial cells: 179 nCPM
  • epididymal efferent duct absorptive cells: 78 nCPM
  • renal connecting tubule cells: 43 nCPM
  • distal convoluted tubule cells: 19 nCPM

Immune cell

  • basophil: 0 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM
  • intermediate monocyte: 0 nTPM
  • MAIT T-cell: 0 nTPM

Brain region

  • cerebral cortex: 1.7 nTPM
  • hippocampal formation: 1 nTPM
  • basal ganglia: 0.7 nTPM
  • hypothalamus: 0.7 nTPM
  • thalamus: 0.7 nTPM
  • amygdala: 0.5 nTPM

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
1.4
gnomAD pLI
0
gnomAD missense Z
0.15
DepMap mean gene effect
-0.09
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads BHMT as an antibody target. Whether an autoantibody or antibody against BHMT could matter depends on whether native BHMT is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

BHMT is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label BHMT as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/BHMT. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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