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 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chrX:48,334,549-48,344,752)mRNA (may differ from genome)Protein (329 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
OMIMPubMedReactomeStanford SOURCETreefamUniProtKB

-  Comments and Description Text from UniProtKB
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="";

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): FTSJ1
CDC HuGE Published Literature: FTSJ1

-  MalaCards Disease Associations
  MalaCards Gene Search: FTSJ1
Diseases sorted by gene-association score: mental retardation, x-linked 9/44* (900), x-linked non-specific intellectual disability* (70), chromosome 15q24 deletion syndrome (10), non-syndromic x-linked intellectual disability (7), non-syndromic intellectual disability (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 16.38 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 517.84 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -120.72323-0.374 Picture PostScript Text
3' UTR -160.22638-0.251 Picture PostScript Text

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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR015507 - rRNA-MeTfrase_E
IPR002877 - rRNA_MeTrfase_FtsJ_dom

Pfam Domains:
PF01728 - FtsJ-like methyltransferase

SCOP Domains:
53335 - S-adenosyl-L-methionine-dependent methyltransferases

ModBase Predicted Comparative 3D Structure on Q9UET6
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserNo orthologGenome BrowserGenome Browser
Gene Details   Gene DetailsGene Details
Gene Sorter   Gene SorterGene Sorter
  Ensembl WormBaseSGD
  Protein Sequence Protein SequenceProtein Sequence
  Alignment AlignmentAlignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0008168 methyltransferase activity
GO:0008175 tRNA methyltransferase activity
GO:0009020 tRNA (guanosine-2'-O-)-methyltransferase activity
GO:0016740 transferase activity
GO:0052666 tRNA (cytosine-2'-O-)-methyltransferase activity

Biological Process:
GO:0001510 RNA methylation
GO:0002181 cytoplasmic translation
GO:0006400 tRNA modification
GO:0008033 tRNA processing
GO:0030488 tRNA methylation
GO:0032259 methylation

Cellular Component:
GO:0005737 cytoplasm
GO:0005829 cytosol

-  Descriptions from all associated GenBank mRNAs
  AK024023 - Homo sapiens cDNA FLJ13961 fis, clone Y79AA1001236, highly similar to ribosomal RNA methyltransferase 1(EC 2.1.1.-).
LF385306 - JP 2014500723-A/192809: Polycomb-Associated Non-Coding RNAs.
AJ005892 - Homo sapiens mRNA for JM23 protein, complete coding sequence (clone IMAGE 34581 and IMAGE 45355 and LLNLc110I133Q7 (RZPD Berlin)).
AK297486 - Homo sapiens cDNA FLJ52916 complete cds, highly similar to ribosomal RNA methyltransferase 1 (EC 2.1.1.-).
AK315138 - Homo sapiens cDNA, FLJ96105, Homo sapiens FtsJ homolog 1 (E. coli) (FTSJ1), mRNA.
BC021047 - Homo sapiens FtsJ homolog 1 (E. coli), mRNA (cDNA clone IMAGE:2989674).
BC023584 - Homo sapiens FtsJ homolog 1 (E. coli), mRNA (cDNA clone MGC:23097 IMAGE:3619796), complete cds.
LF379204 - JP 2014500723-A/186707: Polycomb-Associated Non-Coding RNAs.
AF063015 - Homo sapiens cell division protein mRNA, complete cds.
JD256438 - Sequence 237462 from Patent EP1572962.
HQ447724 - Synthetic construct Homo sapiens clone IMAGE:100071055; CCSB012545_01 FtsJ homolog 1 (E. coli) (FTSJ1) gene, encodes complete protein.
KJ893449 - Synthetic construct Homo sapiens clone ccsbBroadEn_02843 FTSJ1 gene, encodes complete protein.
AB590908 - Synthetic construct DNA, clone: pFN21AE1814, Homo sapiens FTSJ1 gene for FtsJ homolog 1, without stop codon, in Flexi system.
KU178580 - Homo sapiens FtsJ-like protein 1 isoform 1 (FTSJ1) mRNA, partial cds.
KU178581 - Homo sapiens FtsJ-like protein 1 isoform 2 (FTSJ1) mRNA, complete cds, alternatively spliced.
CU692806 - Synthetic construct Homo sapiens gateway clone IMAGE:100021891 5' read FTSJ1 mRNA.
LF379203 - JP 2014500723-A/186706: Polycomb-Associated Non-Coding RNAs.
JD037435 - Sequence 18459 from Patent EP1572962.
JD271374 - Sequence 252398 from Patent EP1572962.
JD530037 - Sequence 511061 from Patent EP1572962.
JD172508 - Sequence 153532 from Patent EP1572962.
JD049373 - Sequence 30397 from Patent EP1572962.
LF379202 - JP 2014500723-A/186705: Polycomb-Associated Non-Coding RNAs.
JD453759 - Sequence 434783 from Patent EP1572962.
MA620883 - JP 2018138019-A/192809: Polycomb-Associated Non-Coding RNAs.
MA614781 - JP 2018138019-A/186707: Polycomb-Associated Non-Coding RNAs.
MA614780 - JP 2018138019-A/186706: Polycomb-Associated Non-Coding RNAs.
MA614779 - JP 2018138019-A/186705: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9UET6 (Reactome details) participates in the following event(s):

R-HSA-9024159 FTSJ1 2'-O-methylates cytidine-32 in tRNA(Phe)
R-HSA-9024161 FTSJ1 2'-O-methylates guanosine-34 in tRNA(Phe)
R-HSA-6782315 tRNA modification in the nucleus and cytosol
R-HSA-72306 tRNA processing
R-HSA-8953854 Metabolism of RNA

-  Other Names for This Gene
  Alternate Gene Symbols: B2RCJ0, JM23, NM_012280, NP_036412, O75670, Q9UET6, RRMJ1_HUMAN
UCSC ID: uc004djo.1
RefSeq Accession: NM_012280
Protein: Q9UET6 (aka RRMJ1_HUMAN)
CCDS: CCDS14294.1, CCDS14295.1

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_012280.2
exon count: 13CDS single in 3' UTR: no RNA size: 1951
ORF size: 990CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2093.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.