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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]
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 tRNA processing and Gene Expression.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000213 | contributes_to tRNA-intron endonuclease activity | IBA | 21873635 |
GO:0005515 | protein binding | IPI | 25416956 |
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 | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | tRNA processing |
.55
|
|
2 | Transcription of tRNA |
Transcription of tRNA
-
|
|
3 | Gene Expression |
.48
|
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 | -- |
GO:0090501 | RNA phosphodiester bond hydrolysis | IEA | -- |
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: |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | TSEN54 33 32 |
|
OneToOne | |
dog (Canis familiaris) |
Mammalia | TSEN54 33 32 |
|
OneToOne | |
cow (Bos Taurus) |
Mammalia | TSEN54 33 32 |
|
OneToOne | |
rat (Rattus norvegicus) |
Mammalia | Tsen54 32 |
|
||
mouse (Mus musculus) |
Mammalia | Tsen54 17 33 32 |
|
||
oppossum (Monodelphis domestica) |
Mammalia | TSEN54 33 |
|
OneToOne | |
platypus (Ornithorhynchus anatinus) |
Mammalia | TSEN54 33 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | TSEN54 33 32 |
|
OneToOne | |
lizard (Anolis carolinensis) |
Reptilia | TSEN54 33 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | tsen54 32 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.22688 32 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | tsen54 33 32 |
|
OneToOne | |
fruit fly (Drosophila melanogaster) |
Insecta | CG5626 33 |
|
OneToOne | |
baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | SEN54 35 |
|
|
SNP ID | Clin | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1012275384 | pathogenic, Pontocerebellar hypoplasia type 2A, Pontocerebellar hypoplasia type 4 | 75,522,019(+) | CCC/CC | coding_sequence_variant, frameshift | |
rs111972085 | uncertain-significance, Pontoneocerebellar hypoplasia | 75,524,581(+) | T/C/G | 3_prime_UTR_variant | |
rs113994151 | pathogenic, likely-pathogenic, Pontocerebellar hypoplasia type 4, Pontocerebellar hypoplasia type 2A, Pontocerebellar hypoplasia 4 (PCH4) [MIM:225753] | 75,517,064(+) | T/C | coding_sequence_variant, missense_variant | |
rs113994152 | pathogenic, pathogenic-likely-pathogenic, likely-pathogenic, Pontocerebellar hypoplasia type 2A, Pontocerebellar hypoplasia type 4, Olivopontocerebellar hypoplasia, Pontocerebellar hypoplasia type 5, not provided, Global developmental delay, Microcephaly, Congenital cerebellar hypoplasia, Non-syndromic pontocerebellar hypoplasia, Inborn genetic diseases, Amblyopia, Hypertonia, Pontocerebellar hypoplasia 2A (PCH2A) [MIM:277470], Pontocerebellar hypoplasia 4 (PCH4) [MIM:225753] | 75,522,000(+) | G/T | coding_sequence_variant, missense_variant | |
rs113994153 | pathogenic, Pontocerebellar hypoplasia type 4 | 75,521,817(+) | C/T | coding_sequence_variant, stop_gained |
Disorder | Aliases | PubMed IDs |
---|---|---|
pontocerebellar hypoplasia, type 4 |
|
|
pontocerebellar hypoplasia, type 5 |
|
|
pontocerebellar hypoplasia, type 2a |
|
|
hypertonia |
|
|
non-syndromic pontocerebellar hypoplasia |
|
|