Selected-GenAtlas references | SOURCE | GeneCards | NCBI Gene | Swiss-Prot | Ensembl |
HGNC | UniGene | Nucleotide | OMIM | UCSC |
Home Page |
FLASH GENE |
Symbol | BHMT | contributors: mct - updated : 07-04-2020 |
HGNC name | betaine-homocysteine methyltransferase |
HGNC id | 1047 |
|
Location | 5q14.1 Physical location : 78.407.603 - 78.428.112 |
EC.number | 2.1.1.5 |
DNA |
TYPE | anonymous DNA segment |
STRUCTURE | 20.48 kb 8 Exon(s) |
10 Kb 5' upstream gene genomic sequence study |
---|
regulatory sequence | Promoter (TATA box) |
Binding site |
MAPPING | cloned | Y | linked | N | status | provisional |
RNA |
TRANSCRIPTS | type | messenger |
---|
|
EXPRESSION |
Type | restricted |
cells |
|
cell lineage
cell lines
| fluid/secretion
| |
at STAGE |
PROTEIN |
PHYSICAL PROPERTIES
STRUCTURE
| |
motifs/domains
| |
|
conjugated | MetalloP |
mono polymer | homomer , tetramer |
HOMOLOGY |
Homologene |
FAMILY |
CATEGORY | enzyme |
SUBCELLULAR LOCALIZATION | extracellular |
intracellular | |
intracellular,cytoplasm,cytosolic,microsome | |
intracellular,nucleus | |
text |
basic FUNCTION | |
| |
| |
| |
| |
| |
| |
|
CELLULAR PROCESS |
PHYSIOLOGICAL PROCESS |
PATHWAY |
metabolism | aminoacid |
signaling |
a component |
INTERACTION |
DNA |
RNA |
small molecule | metal binding, cofactor, |
|
protein | |
with at least partial stabilization of BHMT2 | |
| |
|
cell & other |
REGULATION |
activated by | by potassium ions |
Other | novel antisense lncRNA (BHMT-AS) that is co-expressed with BHMT and concordantly and specifically regulates BHMT expression to regulate hepatic gluconeogenes |
ASSOCIATED DISORDERS |
corresponding disease(s) |
Other morbid association(s) |
|
Susceptibility |
|
Variant & Polymorphism other | |
| |
| |
Candidate gene | candidate gene for non-syndromic cleft lip with or without cleft palate (NSCL/P |
Marker | |
| |
| |
Therapy target
| |
ANIMAL & CELL MODELS |