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Aliases for TSEN54 Gene

Aliases for TSEN54 Gene

  • TRNA Splicing Endonuclease Subunit 54 2 3 5
  • TSEN54 TRNA Splicing Endonuclease Subunit 2 3
  • TRNA-Intron Endonuclease Sen54 3 4
  • SEN54 Homolog 3 4
  • HsSen54 3 4
  • Sen54 3 4
  • TRNA Splicing Endonuclease 54 Homolog (SEN54, S. Cerevisiae) 2
  • TRNA Splicing Endonuclease 54 Homolog (S. Cerevisiae) 2
  • TRNA-Splicing Endonuclease Subunit Sen54 3
  • SEN54L 3
  • PCH2A 3
  • PCH4 3
  • PCH5 3

External Ids for TSEN54 Gene

Previous GeneCards Identifiers for TSEN54 Gene

  • GC17P071025
  • GC17P073512
  • GC17P068936

Summaries for TSEN54 Gene

Entrez Gene Summary for TSEN54 Gene

  • This gene encodes a subunit of the tRNA splicing endonuclease complex, which catalyzes the removal of introns from precursor tRNAs. The complex is also implicated in pre-mRNA 3-prime end processing. Mutations in this gene result in pontocerebellar hypoplasia type 2.[provided by RefSeq, Oct 2009]

GeneCards Summary for TSEN54 Gene

TSEN54 (TRNA Splicing Endonuclease Subunit 54) is a Protein Coding gene. Diseases associated with TSEN54 include Pontocerebellar Hypoplasia Type 4 and Pontocerebellar Hypoplasia Type 5. Among its related pathways are Gene Expression and tRNA processing.

UniProtKB/Swiss-Prot for TSEN54 Gene

  • Non-catalytic subunit of the tRNA-splicing endonuclease complex, a complex responsible for identification and cleavage of the splice sites in pre-tRNA. It cleaves pre-tRNA at the 5 and 3 splice sites to release the intron. The products are an intron and two tRNA half-molecules bearing 2,3 cyclic phosphate and 5-OH termini. There are no conserved sequences at the splice sites, but the intron is invariably located at the same site in the gene, placing the splice sites an invariant distance from the constant structural features of the tRNA body. The tRNA splicing endonuclease is also involved in mRNA processing via its association with pre-mRNA 3-end processing factors, establishing a link between pre-tRNA splicing and pre-mRNA 3-end formation, suggesting that the endonuclease subunits function in multiple RNA-processing events.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TSEN54 Gene

Genomics for TSEN54 Gene

Regulatory Elements for TSEN54 Gene

Enhancers for TSEN54 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17G075507 2 FANTOM5 Ensembl ENCODE dbSUPER 22.7 -2.2 -2159 11.8 MLX CREB3L1 ZFP64 DMAP1 SLC30A9 ZNF143 ZNF548 SP3 NFYC SSRP1 TSEN54 LLGL2 NUP85 TMEM94 NT5C UNK KCTD2 SUMO2 ENSG00000266980 TRIM65
GH17G075546 1.5 Ensembl ENCODE dbSUPER 17.6 +33.6 33604 4.9 HDGF PKNOX1 FOXA2 ARID4B SIN3A DMAP1 ZBTB7B ZNF207 ZNF143 ZNF263 LLGL2 TSEN54 TMEM94 RN7SL573P MYO15B CASKIN2 NUP85 ENSG00000267342 SAP30BP GC17P075560
GH17G075537 1.3 Ensembl ENCODE dbSUPER 19.9 +25.1 25108 6.4 ESRRA KLF1 ZMYM3 RARA ZFHX2 POLR2A ZBTB48 ZSCAN5C NR2F6 EZH2 TMEM94 TSEN54 LLGL2 CASKIN2 CDK3 GC17P075560
GH17G075486 1.3 Ensembl ENCODE dbSUPER 18.4 -28.2 -28172 2.1 HDAC1 HDGF CTCF CBX3 KLF17 MAX RAD21 ZBTB40 FOXK2 POLR2A TMEM94 LLGL2 TSEN54 CASKIN2 NUP85 MIR6785
GH17G075428 1.8 FANTOM5 Ensembl ENCODE dbSUPER 12.7 -86.0 -85958 3.1 FOXA2 ARID4B SIN3A DMAP1 ZNF48 FOS SP5 YY2 NFYC MIER2 TSEN54 CASKIN2 TMEM94 GRB2 NUP85 MIF4GD MYO15B LLGL2 MRPS7 ENSG00000202332
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TSEN54 on UCSC Golden Path with GeneCards custom track

Promoters for TSEN54 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000098397 293 2401 MLX CREB3L1 ZFP64 DMAP1 SLC30A9 ZNF143 SP3 NFYC ZNF610 ZNF585B

Genomic Location for TSEN54 Gene

Chromosome:
17
Start:
75,515,707 bp from pter
End:
75,524,739 bp from pter
Size:
9,033 bases
Orientation:
Plus strand

Genomic View for TSEN54 Gene

Genes around TSEN54 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TSEN54 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TSEN54 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TSEN54 Gene

Proteins for TSEN54 Gene

  • Protein details for TSEN54 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7Z6J9-SEN54_HUMAN
    Recommended name:
    tRNA-splicing endonuclease subunit Sen54
    Protein Accession:
    Q7Z6J9
    Secondary Accessions:
    • Q86WV3
    • Q86XE4
    • Q8N9H2

    Protein attributes for TSEN54 Gene

    Size:
    526 amino acids
    Molecular mass:
    58819 Da
    Quaternary structure:
    • tRNA splicing endonuclease is a heterotetramer composed of TSEN2, TSEN15, TSEN34/LENG5 and TSEN54. tRNA splicing endonuclease complex also contains proteins of the pre-mRNA 3-end processing machinery such as CLP1, CPSF1, CPSF4 and CSTF2. Also belongs to a complex containing isoform 2 of SEN2.
    SequenceCaution:
    • Sequence=AAH53643.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for TSEN54 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TSEN54 Gene

Post-translational modifications for TSEN54 Gene

  • Ubiquitination at Lys489
  • Modification sites at PhosphoSitePlus

Other Protein References for TSEN54 Gene

No data available for DME Specific Peptides for TSEN54 Gene

Domains & Families for TSEN54 Gene

Gene Families for TSEN54 Gene

Protein Domains for TSEN54 Gene

Suggested Antigen Peptide Sequences for TSEN54 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q7Z6J9

UniProtKB/Swiss-Prot:

SEN54_HUMAN :
  • Belongs to the SEN54 family.
Family:
  • Belongs to the SEN54 family.
genes like me logo Genes that share domains with TSEN54: view

Function for TSEN54 Gene

Molecular function for TSEN54 Gene

UniProtKB/Swiss-Prot Function:
Non-catalytic subunit of the tRNA-splicing endonuclease complex, a complex responsible for identification and cleavage of the splice sites in pre-tRNA. It cleaves pre-tRNA at the 5 and 3 splice sites to release the intron. The products are an intron and two tRNA half-molecules bearing 2,3 cyclic phosphate and 5-OH termini. There are no conserved sequences at the splice sites, but the intron is invariably located at the same site in the gene, placing the splice sites an invariant distance from the constant structural features of the tRNA body. The tRNA splicing endonuclease is also involved in mRNA processing via its association with pre-mRNA 3-end processing factors, establishing a link between pre-tRNA splicing and pre-mRNA 3-end formation, suggesting that the endonuclease subunits function in multiple RNA-processing events.

Gene Ontology (GO) - Molecular Function for TSEN54 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000213 contributes_to tRNA-intron endonuclease activity IBA --
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with TSEN54: view
genes like me logo Genes that share phenotypes with TSEN54: view

Human Phenotype Ontology for TSEN54 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for TSEN54 Gene

Localization for TSEN54 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TSEN54 Gene

Nucleus. Nucleus, nucleolus. Note=May be transiently localized in the nucleolus. {ECO:0000305}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TSEN54 gene
Compartment Confidence
nucleus 5
cytosol 3
mitochondrion 2

Gene Ontology (GO) - Cellular Components for TSEN54 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000214 tRNA-intron endonuclease complex IBA --
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0005730 nucleolus IEA --
genes like me logo Genes that share ontologies with TSEN54: view

Pathways & Interactions for TSEN54 Gene

genes like me logo Genes that share pathways with TSEN54: view

Pathways by source for TSEN54 Gene

3 Reactome pathways for TSEN54 Gene

Gene Ontology (GO) - Biological Process for TSEN54 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000379 tRNA-type intron splice site recognition and cleavage IBA --
GO:0006388 tRNA splicing, via endonucleolytic cleavage and ligation TAS --
GO:0006397 mRNA processing IEA --
GO:0008033 tRNA processing IEA --
GO:0090501 RNA phosphodiester bond hydrolysis IEA --
genes like me logo Genes that share ontologies with TSEN54: view

No data available for SIGNOR curated interactions for TSEN54 Gene

Drugs & Compounds for TSEN54 Gene

No Compound Related Data Available

Transcripts for TSEN54 Gene

Unigene Clusters for TSEN54 Gene

TRNA splicing endonuclease 54 homolog (S. cerevisiae):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TSEN54 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c ^ 9a · 9b ^ 10 ^ 11a · 11b · 11c ^ 12a · 12b ^ 13 ^ 14a · 14b
SP1: - - -
SP2: - - -
SP3: - - -
SP4: - - - - - - - -
SP5: - -
SP6: - - - - - - -
SP7:
SP8: - -
SP9: - - - - -
SP10: -
SP11: -
SP12:

Relevant External Links for TSEN54 Gene

GeneLoc Exon Structure for
TSEN54
ECgene alternative splicing isoforms for
TSEN54

Expression for TSEN54 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TSEN54 Gene

Protein differential expression in normal tissues from HIPED for TSEN54 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (28.7), CD8 Tcells (13.0), Testis (7.7), and Lymph node (7.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TSEN54 Gene



Protein tissue co-expression partners for TSEN54 Gene

NURSA nuclear receptor signaling pathways regulating expression of TSEN54 Gene:

TSEN54

SOURCE GeneReport for Unigene cluster for TSEN54 Gene:

Hs.378501

Evidence on tissue expression from TISSUES for TSEN54 Gene

  • Nervous system(4.5)
  • Blood(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TSEN54 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • face
  • forehead
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • pharynx
  • skull
  • tongue
Thorax:
  • chest wall
  • clavicle
  • heart
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
Pelvis:
  • pelvis
  • placenta
  • uterus
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with TSEN54: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for TSEN54 Gene

Orthologs for TSEN54 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for TSEN54 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TSEN54 34 35
  • 99.24 (n)
dog
(Canis familiaris)
Mammalia TSEN54 34 35
  • 87.14 (n)
cow
(Bos Taurus)
Mammalia TSEN54 34 35
  • 86.42 (n)
rat
(Rattus norvegicus)
Mammalia Tsen54 34
  • 82.41 (n)
mouse
(Mus musculus)
Mammalia Tsen54 34 16 35
  • 82.16 (n)
oppossum
(Monodelphis domestica)
Mammalia TSEN54 35
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TSEN54 35
  • 57 (a)
OneToOne
chicken
(Gallus gallus)
Aves TSEN54 34 35
  • 56.97 (n)
lizard
(Anolis carolinensis)
Reptilia TSEN54 35
  • 51 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tsen54 34
  • 64.6 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.22688 34
zebrafish
(Danio rerio)
Actinopterygii tsen54 34 35
  • 53.69 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG5626 35
  • 25 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SEN54 37
Species where no ortholog for TSEN54 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TSEN54 Gene

ENSEMBL:
Gene Tree for TSEN54 (if available)
TreeFam:
Gene Tree for TSEN54 (if available)

Paralogs for TSEN54 Gene

No data available for Paralogs for TSEN54 Gene

Variants for TSEN54 Gene

Sequence variations from dbSNP and Humsavar for TSEN54 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs113994151 Pathogenic, Pontocerebellar hypoplasia 4 (PCH4) [MIM:225753] 75,517,064(+) TGAAG(C/T)CTCCC nc-transcript-variant, upstream-variant-2KB, reference, missense
rs113994152 Pathogenic, Pontocerebellar hypoplasia 2A (PCH2A) [MIM:277470], Pontocerebellar hypoplasia 4 (PCH4) [MIM:225753] 75,522,000(+) ACATG(G/T)CTTCA nc-transcript-variant, reference, missense
VAR_073351 Pontocerebellar hypoplasia 2A (PCH2A) [MIM:277470]
rs113994153 Pathogenic 75,521,817(+) AACCC(C/T)AGGAG nc-transcript-variant, reference, stop-gained
rs113994154 Pathogenic 75,522,108(+) TGAAC(C/T)AGCGC nc-transcript-variant, reference, stop-gained

Structural Variations from Database of Genomic Variants (DGV) for TSEN54 Gene

Variant ID Type Subtype PubMed ID
nsv470603 CNV loss 18288195
nsv516133 CNV loss 19592680
nsv576027 CNV gain 21841781
nsv828102 CNV loss 20364138
nsv833542 CNV loss 17160897
nsv833543 CNV loss 17160897
nsv952368 CNV deletion 24416366

Variation tolerance for TSEN54 Gene

Residual Variation Intolerance Score: 97.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 18.04; 98.43% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TSEN54 Gene

Human Gene Mutation Database (HGMD)
TSEN54
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TSEN54

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TSEN54 Gene

Disorders for TSEN54 Gene

MalaCards: The human disease database

(10) MalaCards diseases for TSEN54 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
pontocerebellar hypoplasia type 4
  • pontocerebellar hypoplasia, type 4
pontocerebellar hypoplasia type 5
  • pontocerebellar hypoplasia, type 5
pontocerebellar hypoplasia type 2a
  • pch2
pontocerebellar hypoplasia type 1
  • pontocerebellar hypoplasia with anterior horn cell disease
pontocerebellar hypoplasia, type 2e
  • pontocerebellar hypoplasia type 2e
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

SEN54_HUMAN
  • Pontocerebellar hypoplasia 2A (PCH2A) [MIM:277470]: A disorder characterized by an abnormally small cerebellum and brainstem, and progressive microcephaly from birth combined with extrapyramidal dyskinesia. Severe chorea occurs and epilepsy is frequent. There are no signs of spinal cord anterior horn cells degeneration. {ECO:0000269 PubMed:18711368, ECO:0000269 PubMed:23307886}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Pontocerebellar hypoplasia 4 (PCH4) [MIM:225753]: A disorder characterized by an abnormally small cerebellum and brainstem, severe neonatal encephalopathy, microcephaly, myoclonus and muscular hypertonia. There is a severe inferior olivary and pontine neuronal loss and a diffuse white matter gliosis. {ECO:0000269 PubMed:18711368, ECO:0000269 PubMed:21824568}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Pontocerebellar hypoplasia 5 (PCH5) [MIM:610204]: A form of pontocerebellar hypoplasia, a disorder characterized by structural defects of the pons and cerebellum. Brain MRI shows an abnormally small cerebellum and brainstem, decreased cerebral white matter, and a thin corpus callosum. {ECO:0000269 PubMed:21368912}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TSEN54

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TSEN54
genes like me logo Genes that share disorders with TSEN54: view

No data available for Genatlas for TSEN54 Gene

Publications for TSEN54 Gene

  1. Identification of a human endonuclease complex reveals a link between tRNA splicing and pre-mRNA 3' end formation. (PMID: 15109492) Paushkin S.V. … Trotta C.R. (Cell 2004) 2 3 4 64
  2. A familial latea89onset hereditary ataxia mimicking pontocerebellar hypoplasia caused by a novel TSEN54 mutation. (PMID: 24938831) Qian Y. … Chen L. (Mol Med Rep 2014) 3 4 64
  3. tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. (PMID: 18711368) Budde B.S. … Baas F. (Nat. Genet. 2008) 3 4 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for TSEN54 Gene

Sources for TSEN54 Gene

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