Human Gene FTSJ1 (uc004djo.1) Description and Page Index
Description: Homo sapiens FtsJ RNA methyltransferase homolog 1 (E. coli) (FTSJ1), transcript variant 1, mRNA. RefSeq Summary (NM_012280): This gene encodes a member of the methyltransferase superfamily. The encoded protein localizes to the nucleolus, binds to S-adenosylmethionine, and may be involved in the processing and modification of ribosomal RNA. Mutations in this gene are associated with cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]. Transcript (Including UTRs) Position: hg19 chrX:48,334,549-48,344,752 Size: 10,204 Total Exon Count: 13 Strand: + Coding Region Position: hg19 chrX:48,336,436-48,341,406 Size: 4,971 Coding Exon Count: 11
ID:RRMJ1_HUMAN DESCRIPTION: RecName: Full=Putative ribosomal RNA methyltransferase 1; EC=2.1.1.-; AltName: Full=Protein ftsJ homolog 1; AltName: Full=rRNA (uridine-2'-O-)-methyltransferase; CATALYTIC ACTIVITY: S-adenosyl-L-methionine + rRNA = S-adenosyl-L- homocysteine + rRNA containing 2'-O-methyluridine. TISSUE SPECIFICITY: Found in fetal brain, lung, liver and kidney. In the adult brain, expressed in amygdala, caudate nucleus, corpus callosum, hippocampus and thalamus. DISEASE: Defects in FTSJ1 are the cause of mental retardation X- linked type 44 (MRX44) [MIM:309549]. Mental retardation is characterized by significantly sub-average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. Non-syndromic mental retardation patients do not manifest other clinical signs. SIMILARITY: Belongs to the methyltransferase superfamily. RlmE family. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FTSJ1";
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): FTSJ1 CDC HuGE Published Literature: FTSJ1
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9UET6
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.