NP_001269086.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
putative tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferase isoform c
NCBI Official Synonym Full Names
FtsJ RNA methyltransferase homolog 1 (E. coli)
NCBI Official Synonym Symbols
JM23; MRX9; SPB1; CDLIV; MRX44; TRMT7 [Similar Products]
NCBI Protein Information
putative tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferase
UniProt Protein Name
Putative tRNA (cytidine(32)/guanosine(34)-2'-O)-methyltransferase
UniProt Synonym Protein Names
2'-O-ribose RNA methyltransferase TRM7 homolog
UniProt Entry Name
TRM7_HUMAN
NCBI Summary for FTSJ1
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 mental retardation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
UniProt Comments for FTSJ1
FTSJ1: Defects in FTSJ1 are the cause of mental retardation X- linked type 44 (MRX44). 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. Belongs to the methyltransferase superfamily. RlmE family. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Methyltransferase; EC 2.1.1.205
Chromosomal Location of Human Ortholog: Xp11.23
Cellular Component: cytoplasm
Molecular Function: tRNA methyltransferase activity
Biological Process: tRNA methylation
Disease: Mental Retardation, X-linked 9
Research Articles on FTSJ1
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Products associated with anti-FTSJ1 antibody
Diseases associated with anti-FTSJ1 antibody
Organs/Tissues associated with anti-FTSJ1 antibody
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