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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] See more...
Aliases for TSEN54 Gene
Aliases for TSEN54 Gene
External Ids for TSEN54 Gene
- HGNC: 27561
- Entrez Gene: 283989
- Ensembl: ENSG00000182173
- OMIM: 608755
- UniProtKB: Q7Z6J9
Previous GeneCards Identifiers for TSEN54 Gene
- GC17P071025
- GC17P073512
- GC17P068936
Summaries 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 Transcription of tRNA and tRNA processing.
UniProtKB/Swiss-Prot Summary 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.
Additional gene information for TSEN54 Gene
- HGNC(27561)
- Entrez Gene(283989)
- Ensembl(ENSG00000182173)
- OMIM(608755)
- UniProtKB(Q7Z6J9)
- Open Targets Platform(ENSG00000182173)
- Monarch Initiative
- Search for TSEN54 at DataMed
- Search for TSEN54 at HumanCyc
No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TSEN54 Gene
Genomics for TSEN54 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for TSEN54 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around TSEN54 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TSEN54
- Top Transcription factor binding sites by QIAGEN in the TSEN54 gene promoter:
-
- C/EBPalpha
- HNF-4alpha1
- HNF-4alpha2
- HOXA5
- HSF1 (long)
- Ik-1
- NF-1
- NF-1/L
- Pax-6
- ZIC2
Genomic Locations for TSEN54 Gene
Genomic Locations for TSEN54 Gene
- chr17:75,516,060-75,524,735
- (GRCh38/hg38)
- Size:
- 8,676 bases
- Orientation:
- Plus strand
- chr17:73,512,141-73,520,820
- (GRCh37/hg19)
- Size:
- 8,680 bases
- Orientation:
- Plus strand
Genomic View for TSEN54 Gene
Genes around TSEN54 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 17q25.1 by HGNC
- 17q25.1 by Entrez Gene
- 17q25.1 by Ensembl
TSEN54 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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=Extended N-terminus.; Evidence={ECO:0000305};
Protein Expression for TSEN54 Gene
Post-translational modifications for TSEN54 Gene
Other Protein References for TSEN54 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ TSEN54 Antibody
-
Custom Antibody ServicesOriGene Antibodies for TSEN54
- Novus Biologicals Antibodies for TSEN54
- Invitrogen Antibodies for TSEN54 (AFLGC-TSEN54)
-
Santa Cruz Biotechnology (SCBT) Antibodies for TSEN54
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for TSEN54
- Origene Custom Protein Services for TSEN54
No data available for DME Specific Peptides for TSEN54 Gene
Domains & Families for TSEN54 Gene
Gene Families for TSEN54 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
Protein Domains for TSEN54 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for TSEN54 Gene
- GenScript: Design optimal peptide antigens:
-
- tRNA-intron endonuclease Sen54 (SEN54_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q7Z6J9- Family:
-
- Belongs to the SEN54 family.
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.
Phenotypes From GWAS Catalog for TSEN54 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 25416956 |
Phenotypes for TSEN54 Gene
- MGI mutant phenotypes for TSEN54:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for TSEN54:
Animal Models for TSEN54 Gene
- MGI Knock Outs for TSEN54:
-
- Tsen54 Tsen54<tm1b(EUCOMM)Wtsi>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for TSEN54 - Select products 50% OFF >
- * TSEN54 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for TSEN54
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TSEN54
-
Santa Cruz Biotechnology (SCBT) CRISPR for TSEN54
miRNA for TSEN54 Gene
- miRTarBase miRNAs that target TSEN54
-
- hsa-miR-124-3p (MIRT022257)
- hsa-miR-484 (MIRT042278)
- hsa-miR-8073 (MIRT458039)
- hsa-miR-27b-3p (MIRT458041)
- hsa-miR-27a-3p (MIRT458042)
- hsa-miR-8085 (MIRT458043)
- hsa-miR-6731-5p (MIRT458044)
- hsa-miR-5196-5p (MIRT458045)
- hsa-miR-4747-5p (MIRT458046)
- hsa-miR-3202 (MIRT458047)
- hsa-miR-7515 (MIRT458048)
- hsa-miR-761 (MIRT458049)
- hsa-miR-3619-5p (MIRT458050)
- hsa-miR-214-3p (MIRT458051)
- hsa-miR-3681-3p (MIRT458052)
- hsa-miR-216a-3p (MIRT458053)
- hsa-miR-128-3p (MIRT458054)
- hsa-miR-1178-5p (MIRT458055)
- hsa-miR-6760-5p (MIRT458056)
- hsa-miR-9500 (MIRT458057)
- hsa-miR-6510-5p (MIRT458058)
- hsa-miR-6794-3p (MIRT756072)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for TSEN54
- Browse OriGene Inhibitory RNA Products For TSEN54
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TSEN54
Clone Products
- Applied Biological Materials (abm): Clones for TSEN54 - Select products 50% OFF >
- * TSEN54 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for TSEN54
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TSEN54
No data available for Enzyme Numbers (IUBMB) , 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}.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 3 |
| mitochondrion | 2 |
| plasma membrane | 1 |
| extracellular | 1 |
| cytoskeleton | 1 |
| endoplasmic reticulum | 1 |
| golgi apparatus | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000214 | tRNA-intron endonuclease complex | IBA | 21873635 |
| GO:0005634 | nucleus | IEA | -- |
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:0005730 | nucleolus | IEA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for TSEN54 Gene
Pathways & Interactions for TSEN54 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | tRNA processing |
.55
|
|
| 2 | Transcription of tRNA |
Transcription of tRNA
-
|
|
| 3 | Gene Expression |
.48
|
|
Pathways by source for TSEN54 Gene
3 Reactome pathways for TSEN54 Gene
1 Qiagen pathway for TSEN54 Gene
- Transcription of tRNA
Interacting Proteins for TSEN54 Gene
Selected Interacting proteins:
Q7Z6J9-SEN54_HUMAN
ENSP00000327487
for TSEN54 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for TSEN54
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000379 | tRNA-type intron splice site recognition and cleavage | IBA | 21873635 |
| GO:0006388 | tRNA splicing, via endonucleolytic cleavage and ligation | TAS | -- |
| GO:0006397 | mRNA processing | IEA | -- |
| GO:0008033 | tRNA processing | IEA | -- |
No data available for SIGNOR curated interactions for TSEN54 Gene
Transcripts for TSEN54 Gene
mRNA/cDNA for TSEN54 Gene
- 1 REFSEQ mRNAs :
- 9 NCBI additional mRNA sequence :
- 11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000333213 1937 nts (view in UCSC)
- ENST00000434205 627 nts (view in UCSC)
- ENST00000545228 1139 nts (view in UCSC)
- ENST00000577197 650 nts (view in UCSC)
- ENST00000578415 994 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for TSEN54 - Select products 50% OFF >
- * TSEN54 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for TSEN54
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TSEN54
-
Santa Cruz Biotechnology (SCBT) CRISPR for TSEN54
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for TSEN54
- Browse OriGene Inhibitory RNA Products For TSEN54
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TSEN54
Clone Products
- Applied Biological Materials (abm): Clones for TSEN54 - Select products 50% OFF >
- * TSEN54 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for TSEN54
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TSEN54
| 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
Expression 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, MaxQB, and MOPED for TSEN54 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TSEN54
SOURCE GeneReport for Unigene cluster for TSEN54 Gene:
Hs.378501Evidence on tissue expression from TISSUES for TSEN54 Gene
- Nervous system(4.5)
- Blood(4.3)
- Skin(2.3)
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
Regions:
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
Primer Products
-
OriGene qPCR primer pairs for TSEN54
Gene Expression Assay 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | TSEN54 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | TSEN54 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | TSEN54 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Tsen54 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Tsen54 30 17 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | TSEN54 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | TSEN54 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | TSEN54 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | TSEN54 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | tsen54 30 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.22688 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | tsen54 30 31 |
|
OneToOne | |
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG5626 31 |
|
OneToOne | |
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | SEN54 33 |
|
|
- Species where no ortholog for TSEN54 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (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)
- Aminode:
- Evolutionary constrained regions (ECRs) for TSEN54: view image
Paralogs for TSEN54 Gene
No data available for Paralogs for TSEN54 Gene
Variants for TSEN54 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TSEN54 Gene
| SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 638161 | Likely Pathogenic: Pontocerebellar hypoplasia type 2A | 75,524,366(+) | T/C | MISSENSE_VARIANT | |
| 667570 | Benign: not provided | 75,516,224(+) | A/G | ||
| 667571 | Benign: not provided | 75,516,273(+) | A/C | ||
| 670804 | Benign: not provided | 75,518,863(+) | A/G | INTRON_VARIANT | |
| 670805 | Benign: not provided | 75,519,156(+) | A/G | INTRON_VARIANT |
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)
Additional Variant Information for TSEN54 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TSEN54 Gene
Disorders for TSEN54 Gene
(30) MalaCards diseases for TSEN54 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| pontocerebellar hypoplasia, type 4 |
|
|
| pontocerebellar hypoplasia, type 5 |
|
|
| pontocerebellar hypoplasia, type 2a |
|
|
| hypertonia |
|
|
| non-syndromic pontocerebellar hypoplasia |
|
|
Search TSEN54 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
SEN54_HUMAN- 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 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 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.
Additional Disease Information for TSEN54
No data available for Genatlas for TSEN54 Gene
Publications for TSEN54 Gene
- Identification of a human endonuclease complex reveals a link between tRNA splicing and pre-mRNA 3' end formation. (PMID: 15109492) Paushkin SV … Trotta CR (Cell 2004) 2 3 4
- A familial late‑onset hereditary ataxia mimicking pontocerebellar hypoplasia caused by a novel TSEN54 mutation. (PMID: 24938831) Qian Y … Chen L (Molecular medicine reports 2014) 3 4
- tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. (PMID: 18711368) Budde BS … Baas F (Nature genetics 2008) 3 4
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
ExternalLinks
Products for TSEN54 Gene
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- Custom Assay Services
- Search Origene for MassSpec and Protein Over-expression Lysates for TSEN54
- Origene Custom Protein Services for TSEN54
- Origene shrna, sirna, and RNAi products in human, mouse, rat for TSEN54
- Browse OriGene Inhibitory RNA Products For TSEN54
- OriGene qPCR primer pairs for TSEN54
- OriGene CRISPR knockouts for TSEN54
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For TSEN54
- Sino Biological Human cDNA Clone for TSEN54
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- High-throughput Antibody Production Service
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- Invitrogen Antibodies for TSEN54 (AFLGC-TSEN54)
- VectorBuilder Custom and pre-made DNA vectors for TSEN54 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for TSEN54 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for TSEN54 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for TSEN54 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for TSEN54
- antibodies-online: Show 21 available TSEN54 Antibodies ranked by validation data
- Compare Top TSEN54 Antibodies
- antibodies-online: Search results for available TSEN54 related products ranked by validation data
- antibodies-online: Show 5 available TSEN54 Proteins ranked by validation data
- Compare Top TSEN54 Proteins
- Santa Cruz Biotechnology (SCBT) Antibodies for TSEN54
- Search Santa Cruz Biotechnology (SCBT) for TSEN54 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for TSEN54
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TSEN54
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TSEN54
- Search GeneCopoeia for miRNA 3'UTR Target clone products for TSEN54
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TSEN54
Sources for TSEN54 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB