FTSJ1

Protein identityUniProt · HPA

UniProt accession

Q9UET6

Gene

FTSJ1

Ensembl

ENSG00000068438

Chromosome

X

Canonical length

329 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins

Subcellular location

Cytosol

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

329 residues, UniProt reviewed canonical sequence.

>Q9UET6|FTSJ1
     1  MGRTSKDKRD VYYRLAKENG WRARSAFKLL QLDKEFQLFQ GVTRAVDLCA APGSWSQVLS
    61  QKIGGQGSGH VVAVDLQAMA PLPGVVQIQG DITQLSTAKE IIQHFKGCPA DLVVCDGAPD
   121  VTGLHDVDEY MQAQLLLAAL NIATHVLKPG GCFVAKIFRG RDVTLLYSQL QVFFSSVLCA
   181  KPRSSRNSSI EAFAVCQGYD PPEGFIPDLS KPLLDHSYDP DFNQLDGPTR IIVPFVTCGD
   241  LSSYDSDRSY PLDLEGGSEY KYTPPTQPPI SPPYQEACTL KRKGQLAKEI RPQDCPISRV
   301  DTFPQPLAAP QCHTLLAPEM EDNEMSCSP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against FTSJ1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.35

Highest tissue expression

16 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about FTSJ1.

Disease | AllUniProt

Conditions FTSJ1 is implicated in, by any mechanism.

• Intellectual developmental disorder, X-linked 9 (XLID9) MIM:309549

Disease | GeneticClinVar

15 pathogenic / likely-pathogenic of 153 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Intellectual disability, X-linked 9
• Inborn genetic diseases
• Intellectual disability

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.2

gnomAD pLI

0.99

gnomAD missense Z

2.17

DepMap mean gene effect

0.02

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• cytoplasmic translation
• neurogenesis
• tRNA methylation
• tRNA modification
• tRNA nucleoside ribose methylation
• wobble position ribose methylation

Molecular functions

• S-adenosyl-L-methionine binding
• tRNA (guanine) methyltransferase activity
• tRNA 2'-O-methyltransferase activity
• tRNA methyltransferase activity
• tRNA (guanosine(34)-2'-O)-methyltransferase activity

Cellular components

• cytoplasm
• cytosol
• nucleus

Protein domainsUniProt · Pfam · InterPro

• Ribosomal RNA methyltransferase, FtsJ domain
• Ribosomal RNA large subunit methyltransferase E
• S-adenosyl-L-methionine-dependent methyltransferase superfamily
• Ribosomal RNA large subunit methyltransferase RlmE
• FtsJ-like methyltransferase
• tRNA (cytidine(32)/guanosine(34)-2-O)-methyltransferase TRM7

KeywordsUniProt

• Cytoplasm
• Intellectual disability
• Methyltransferase
• Nucleus
• Phosphoprotein
• S-adenosyl-L-methionine
• Transferase
• tRNA processing

InteractionsUniProt · HPA

Protein binding partners of FTSJ1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• WDR6