TSEN34

Protein identityUniProt · HPA

UniProt accession

Q9BSV6

Gene

TSEN34

Ensembl

ENSG00000170892

Chromosome

19

Canonical length

310 aa

Protein class

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

Subcellular location

Nucleoplasm

OverviewNCBI Gene

This gene encodes a catalytic subunit of the tRNA splicing endonuclease, which catalyzes the removal of introns from precursor tRNAs. The endonuclease complex is also associated with a pre-mRNA 3-prime end processing factor. A mutation in this gene results in the neurological disorder pontocerebellar hypoplasia type 2. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Oct 2009]

Canonical amino-acid sequenceUniProt

310 residues, UniProt reviewed canonical sequence.

>Q9BSV6|TSEN34
     1  MLVVEVANGR SLVWGAEAVQ ALRERLGVGG RTVGALPRGP RQNSRLGLPL LLMPEEARLL
    61  AEIGAVTLVS APRPDSRHHS LALTSFKRQQ EESFQEQSAL AAEARETRRQ ELLEKITEGQ
   121  AAKKQKLEQA SGASSSQEAG SSQAAKEDET SDGQASGEQE EAGPSSSQAG PSNGVAPLPR
   181  SALLVQLATA RPRPVKARPL DWRVQSKDWP HAGRPAHELR YSIYRDLWER GFFLSAAGKF
   241  GGDFLVYPGD PLRFHAHYIA QCWAPEDTIP LQDLVAAGRL GTSVRKTLLL CSPQPDGKVV
   301  YTSLQWASLQ

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TSEN34 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)

0.4

Highest tissue expression

53 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TSEN34.

Disease | AllUniProt

Conditions TSEN34 is implicated in, by any mechanism.

• Pontocerebellar hypoplasia 2C (PCH2C) MIM:612390

Disease | GeneticClinVar

2 pathogenic / likely-pathogenic of 213 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Pontocerebellar hypoplasia type 2C

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)

0.59

gnomAD pLI

0.36

gnomAD missense Z

-0.96

DepMap mean gene effect

-0.47

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• mRNA processing
• tRNA-type intron splice site recognition and cleavage

Molecular functions

• nucleic acid binding
• tRNA-intron lyase activity

Cellular components

• nucleolus
• nucleoplasm
• tRNA-intron endonuclease complex

Protein domainsUniProt · Pfam · InterPro

• tRNA-splicing endonuclease
• tRNA intron endonuclease, catalytic domain-like
• tRNA endonuclease-like domain superfamily
• tRNA intron endonuclease, catalytic domain-like superfamily
• tRNA intron endonuclease, catalytic C-terminal domain
• TSEN34
• TSEN34, N-terminal domain
• TSEN34-like, N-terminal domain

KeywordsUniProt

• Lyase
• mRNA processing
• Neurodegeneration
• Nucleus
• Pontocerebellar hypoplasia
• tRNA processing

InteractionsUniProt · HPA

Protein binding partners of TSEN34 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• TSEN15