BHMT

GENERAL INFORMATION

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Gene name

BHMT

Gene description

Betaine--homocysteine S-methyltransferase

Protein class

Enzymes
Plasma proteins
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

2
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Group enriched (kidney, liver)
GTEx:Group enriched (kidney, liver)

Protein evidence

Evidence at protein level

Protein localization

Selective cytoplasmic expression in hepatocytes and kidney tubules.

ANTIBODY RELIABILITY

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Data reliability
description

Antibody staining consistent with RNA expression data. Presumed off target binding observed and disregarded.

Data reliability

Supportive based on 2 antibodies.
HPA038285 , HPA058310
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Group enriched (kidney, liver)

Organ

Expression

GTEx dataset
RNA tissue category:  Group enriched (kidney, liver)

Organ

Expression



GENE INFORMATION

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Gene name

BHMT (HGNC Symbol)

Synonyms

BHMT1

Description

Betaine--homocysteine S-methyltransferase (HGNC Symbol)

Entrez gene summary

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]

Chromosome

5

Cytoband

q14.1

Chromosome location (bp)

79111779 - 79132290

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000145692 (version 78.38)

Entrez gene

635

UniProt

Q93088 (UniProt - Evidence at protein level)

neXtProt

NX_Q93088

Antibodypedia

BHMT antibodies


PROTEIN BROWSER

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ENST00000274353
 
ENST00000524080
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

BHMT-001 ENSP00000274353
ENST00000274353
Q93088
Show all »
Show » Show » 406 45 No 0
BHMT-003 ENSP00000428240
ENST00000524080
E5RJH0
Show all »
Show » Show » 253 28.2 No 0