RBCC Red Blood Cell Collection

TRM7_HUMAN

Source: PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: FTSJ1 , JM23
Protein names and data: TRM7_HUMAN , Putative tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferase; 2.1.1.205 , 2'-O-ribose RNA methyltransferase TRM7 homolog; Protein ftsJ homolog 1 Lenght: 329 a.a.
Mass: 36079 Da
fasta formatted sequence
Function: Methylates the 2'-O-ribose of nucleotides at positions 32 and 34 of the tRNA anticodon loop of substrate tRNAs (By similarity).
Catalytic activity: S-adenosyl-L-methionine + cytidine(32)/guanosine(34) in tRNA = S-adenosyl-L-homocysteine + 2'-O-methylcytidine(32)/2'-O-methylguanosine(34) in tRNA.
Disease: ( OMIM: 300499 309549 ) Mental retardation, X-linked 44 (MRX44) [MIM:309549]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non- syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Cytoplasm (By similarity).
Tissue specificity: Found in fetal brain, lung, liver and kidney. In the adult brain, expressed in amygdala, caudate nucleus, corpus callosum, hippocampus and thalamus.

Database cross-references

UniProt: Q9UET6
Ensembl: ENST00000019019
Ensembl: ENST00000348411
Ensembl: ENST00000456787
Ensembl: ENST00000594571
Ensembl: ENST00000597753
Ensembl: ENST00000601551
MIM: 300499
MIM: 309549
neXtProt: NX_Q9UET6
Antibodypedia: Q9UET6 (may not find the protein thus also not any antibody)
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