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The protein encoded by this gene is a putative tRNA methyltransferase found in the cytoplasm. Defects in this gene may be a cause of partial epilepsy with pericentral spikes (PEPS), but that has not been proven definitively. [provided by RefSeq, May 2012]
TRMT44 (TRNA Methyltransferase 44 Homolog) is a Protein Coding gene. Diseases associated with TRMT44 include Epilepsy and Non-Syndromic X-Linked Intellectual Disability. Among its related pathways are Gene Expression and tRNA processing. Gene Ontology (GO) annotations related to this gene include methyltransferase activity.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0008168 | methyltransferase activity | IEA | -- |
GO:0016300 | tRNA (uracil) methyltransferase activity | IBA | 21873635 |
GO:0016740 | transferase activity | IEA | -- |
GO:0046872 | metal ion binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | tRNA processing |
.55
|
|
2 | Gene Expression |
.48
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0008033 | tRNA processing | IEA | -- |
GO:0030488 | tRNA methylation | IBA | 21873635 |
GO:0032259 | methylation | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
s-adenosylhomocysteine | Experimental | Pharma | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
s-adenosylmethionine |
|
485-80-3 |
|
ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | ^ | 10 | ^ | 11a | · | 11b | · | 11c | ^ | 12a | · | 12b | · | 12c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | |||||||||||||||||||||||||||||||
SP3: | - | ||||||||||||||||||||||||||||||||||
SP4: | - | ||||||||||||||||||||||||||||||||||
SP5: |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | TRMT44 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | TRMT44 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | TRMT44 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Trmt44 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Trmt44 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | TRMT44 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | TRMT44 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | METTL19 30 |
|
||
TRMT44 31 |
|
OneToOne | |||
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | trmt44 30 |
|
||
Str.3599 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | LOC398534 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | trmt44 30 31 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP006663 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG9386 30 31 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | C23G10.7 31 |
|
OneToOne | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | TRM44 31 |
|
OneToOne | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne | |
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.8390 30 |
|
SNP ID | Clinical significance and condition | Chr 04 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs150441746 | - | p.Gly641Ala | |||
rs1880024 | - | p.Arg352Gly | |||
rs34873641 | - | p.Ile455Val | |||
rs73211375 | - | p.Met300Leu |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv34196 | OTHER | inversion | 12058347 |
esv3599546 | CNV | loss | 21293372 |
nsv1002794 | CNV | gain | 25217958 |
nsv1005698 | CNV | gain | 25217958 |
nsv461220 | CNV | loss | 19166990 |
nsv593638 | CNV | loss | 21841781 |
nsv829854 | CNV | gain+loss | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
epilepsy |
|
|
non-syndromic x-linked intellectual disability |
|
|