UniProtKB - Q7Z6J9 (SEN54_HUMAN)
tRNA-splicing endonuclease subunit Sen54
TSEN54
Functioni
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.
1 PublicationGO - Biological processi
- mRNA processing Source: UniProtKB-KW
- tRNA splicing, via endonucleolytic cleavage and ligation Source: UniProtKB
- tRNA-type intron splice site recognition and cleavage Source: GO_Central
Keywordsi
Biological process | mRNA processing, tRNA processing |
Enzyme and pathway databases
BRENDAi | 4.6.1.16, 2681 |
PathwayCommonsi | Q7Z6J9 |
Reactomei | R-HSA-6784531, tRNA processing in the nucleus |
SignaLinki | Q7Z6J9 |
Names & Taxonomyi
Protein namesi | Recommended name: tRNA-splicing endonuclease subunit Sen54Alternative name(s): SEN54 homolog Short name: HsSEN54 tRNA-intron endonuclease Sen54 |
Gene namesi | Name:TSEN54 Synonyms:SEN54 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:27561, TSEN54 |
MIMi | 608755, gene |
neXtProti | NX_Q7Z6J9 |
VEuPathDBi | HostDB:ENSG00000182173 |
Subcellular locationi
Nucleus
- nucleolus Source: UniProtKB-SubCell
- nucleoplasm Source: Reactome
- tRNA-intron endonuclease complex Source: GO_Central
Keywords - Cellular componenti
NucleusPathology & Biotechi
Involvement in diseasei
Pontocerebellar hypoplasia 4 (PCH4)2 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_054812 | 93 | S → P in PCH4. 1 PublicationCorresponds to variant dbSNP:rs113994151EnsemblClinVar. | 1 | |
Natural variantiVAR_054813 | 307 | A → S in PCH2A and PCH4. 2 PublicationsCorresponds to variant dbSNP:rs113994152EnsemblClinVar. | 1 |
Pontocerebellar hypoplasia 2A (PCH2A)2 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_073351 | 119 | Y → D in PCH2A. 1 Publication | 1 | |
Natural variantiVAR_054813 | 307 | A → S in PCH2A and PCH4. 2 PublicationsCorresponds to variant dbSNP:rs113994152EnsemblClinVar. | 1 |
Pontocerebellar hypoplasia 5 (PCH5)1 Publication
Keywords - Diseasei
Disease variant, Neurodegeneration, Pontocerebellar hypoplasiaOrganism-specific databases
DisGeNETi | 283989 |
GeneReviewsi | TSEN54 |
MalaCardsi | TSEN54 |
MIMi | 225753, phenotype 277470, phenotype 610204, phenotype |
OpenTargetsi | ENSG00000182173 |
Orphaneti | 2524, Pontocerebellar hypoplasia type 2 166063, Pontocerebellar hypoplasia type 4 |
PharmGKBi | PA142670692 |
Miscellaneous databases
Pharosi | Q7Z6J9, Tbio |
Genetic variation databases
BioMutai | TSEN54 |
DMDMi | 296452961 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000194029 | 1 – 526 | tRNA-splicing endonuclease subunit Sen54Add BLAST | 526 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 1 | N-acetylmethionineCombined sources | 1 | |
Modified residuei | 178 | PhosphoserineCombined sources | 1 | |
Modified residuei | 180 | PhosphotyrosineCombined sources | 1 | |
Modified residuei | 267 | PhosphoserineCombined sources | 1 | |
Modified residuei | 316 | Omega-N-methylarginineCombined sources | 1 |
Keywords - PTMi
Acetylation, Methylation, PhosphoproteinProteomic databases
EPDi | Q7Z6J9 |
jPOSTi | Q7Z6J9 |
MassIVEi | Q7Z6J9 |
MaxQBi | Q7Z6J9 |
PaxDbi | Q7Z6J9 |
PeptideAtlasi | Q7Z6J9 |
PRIDEi | Q7Z6J9 |
ProteomicsDBi | 69429 [Q7Z6J9-1] 69430 [Q7Z6J9-2] |
PTM databases
iPTMneti | Q7Z6J9 |
PhosphoSitePlusi | Q7Z6J9 |
Expressioni
Gene expression databases
Bgeei | ENSG00000182173, Expressed in cerebellar hemisphere and 211 other tissues |
ExpressionAtlasi | Q7Z6J9, baseline and differential |
Genevisiblei | Q7Z6J9, HS |
Organism-specific databases
HPAi | ENSG00000182173, Low tissue specificity |
Interactioni
Subunit structurei
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.
Binary interactionsi
Q7Z6J9
Protein-protein interaction databases
BioGRIDi | 129721, 42 interactors |
CORUMi | Q7Z6J9 |
IntActi | Q7Z6J9, 22 interactors |
MINTi | Q7Z6J9 |
STRINGi | 9606.ENSP00000327487 |
Miscellaneous databases
RNActi | Q7Z6J9, protein |
Structurei
3D structure databases
AlphaFoldDBi | Q7Z6J9 |
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 27 – 47 | DisorderedSequence analysisAdd BLAST | 21 | |
Regioni | 192 – 290 | DisorderedSequence analysisAdd BLAST | 99 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 209 – 233 | Polar residuesSequence analysisAdd BLAST | 25 |
Sequence similaritiesi
Phylogenomic databases
eggNOGi | KOG4772, Eukaryota |
GeneTreei | ENSGT00390000004214 |
HOGENOMi | CLU_033069_1_0_1 |
InParanoidi | Q7Z6J9 |
OMAi | AMVLQHI |
OrthoDBi | 684082at2759 |
PhylomeDBi | Q7Z6J9 |
TreeFami | TF314691 |
Family and domain databases
InterProi | View protein in InterPro IPR024337, tRNA_splic_suSen54 IPR024336, tRNA_splic_suSen54_N |
PANTHERi | PTHR21027, PTHR21027, 1 hit |
Pfami | View protein in Pfam PF12928, tRNA_int_end_N2, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 8 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MEPEPEPAAV EVPAGRVLSA RELFAARSRS QKLPQRSHGP KDFLPDGSAA
60 70 80 90 100
QAERLRRCRE ELWQLLAEQR VERLGSLVAA EWRPEEGFVE LKSPAGKFWQ
110 120 130 140 150
TMGFSEQGRQ RLHPEEALYL LECGSIHLFH QDLPLSIQEA YQLLLTDHTV
160 170 180 190 200
TFLQYQVFSH LKRLGYVVRR FQPSSVLSPY ERQLNLDASV QHLEDGDGKR
210 220 230 240 250
KRSSSSPRSI NKKAKALDNS LQPKSLAASS PPPCSQPSQC PEEKPQESSP
260 270 280 290 300
MKGPGGPFQL LGSLGPSPGP AREGVGCSWE SGRAENGVTG AGKRRWNFEQ
310 320 330 340 350
ISFPNMASDS RHTLLRAPAP ELLPANVAGR ETDAESWCQK LNQRKEKLSR
360 370 380 390 400
REREHHAEAA QFQEDVNADP EVQRCSSWRE YKELLQRRQV QRSQRRAPHL
410 420 430 440 450
WGQPVTPLLS PGQASSPAVV LQHISVLQTT HLPDGGARLL EKSGGLEIIF
460 470 480 490 500
DVYQADAVAT FRKNNPGKPY ARMCISGFDE PVPDLCSLKR LSYQSGDVPL
510 520
IFALVDHGDI SFYSFRDFTL PQDVGH
Computationally mapped potential isoform sequencesi
There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketE7EN92 | E7EN92_HUMAN | tRNA-splicing endonuclease subunit ... | TSEN54 | 425 | Annotation score: | ||
J9JIH8 | J9JIH8_HUMAN | tRNA-splicing endonuclease subunit ... | TSEN54 | 562 | Annotation score: | ||
A0A7P0TA59 | A0A7P0TA59_HUMAN | tRNA-splicing endonuclease subunit ... | TSEN54 | 500 | Annotation score: | ||
A0A7P0Z413 | A0A7P0Z413_HUMAN | tRNA-splicing endonuclease subunit ... | TSEN54 | 597 | Annotation score: | ||
J3QLM6 | J3QLM6_HUMAN | tRNA-splicing endonuclease subunit ... | TSEN54 | 178 | Annotation score: | ||
J3KRC5 | J3KRC5_HUMAN | tRNA-splicing endonuclease subunit ... | TSEN54 | 177 | Annotation score: | ||
A0A7P0Z4H0 | A0A7P0Z4H0_HUMAN | tRNA-splicing endonuclease subunit ... | TSEN54 | 192 | Annotation score: | ||
A0A7P0Z4K6 | A0A7P0Z4K6_HUMAN | tRNA-splicing endonuclease subunit ... | TSEN54 | 260 | Annotation score: |
Sequence cautioni
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_019459 | 4 | E → DCombined sources2 PublicationsCorresponds to variant dbSNP:rs7216673EnsemblClinVar. | 1 | |
Natural variantiVAR_019461 | 38 | H → Q. Corresponds to variant dbSNP:rs8079373EnsemblClinVar. | 1 | |
Natural variantiVAR_073350 | 85 | E → V Found in familial late-onset hereditary ataxia; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1179247981Ensembl. | 1 | |
Natural variantiVAR_054812 | 93 | S → P in PCH4. 1 PublicationCorresponds to variant dbSNP:rs113994151EnsemblClinVar. | 1 | |
Natural variantiVAR_073351 | 119 | Y → D in PCH2A. 1 Publication | 1 | |
Natural variantiVAR_057721 | 137 | I → L. Corresponds to variant dbSNP:rs11559205EnsemblClinVar. | 1 | |
Natural variantiVAR_054813 | 307 | A → S in PCH2A and PCH4. 2 PublicationsCorresponds to variant dbSNP:rs113994152EnsemblClinVar. | 1 | |
Natural variantiVAR_019462 | 347 | K → N1 PublicationCorresponds to variant dbSNP:rs9911502EnsemblClinVar. | 1 | |
Natural variantiVAR_019463 | 437 | A → V1 PublicationCorresponds to variant dbSNP:rs8064529EnsemblClinVar. | 1 | |
Natural variantiVAR_057722 | 525 | G → R. Corresponds to variant dbSNP:rs11870627EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_010988 | 157 – 177 | VFSHL…PSSVL → PPEEVGLCGSTIPTKLCPVP V in isoform 2. 1 PublicationAdd BLAST | 21 | |
Alternative sequenceiVSP_010989 | 178 – 526 | Missing in isoform 2. 1 PublicationAdd BLAST | 349 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK094466 mRNA Translation: BAC04362.1 BC047793 mRNA Translation: AAH47793.1 AC100787 Genomic DNA No translation available. BC053643 mRNA Translation: AAH53643.1 Different initiation. |
CCDSi | CCDS11724.1 [Q7Z6J9-1] |
RefSeqi | NP_997229.2, NM_207346.2 [Q7Z6J9-1] |
Genome annotation databases
Ensembli | ENST00000333213.11; ENSP00000327487.6; ENSG00000182173.14 ENST00000679429.1; ENSP00000505403.1; ENSG00000182173.14 [Q7Z6J9-2] |
GeneIDi | 283989 |
KEGGi | hsa:283989 |
MANE-Selecti | ENST00000333213.11; ENSP00000327487.6; NM_207346.3; NP_997229.2 |
UCSCi | uc002jof.2, human [Q7Z6J9-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK094466 mRNA Translation: BAC04362.1 BC047793 mRNA Translation: AAH47793.1 AC100787 Genomic DNA No translation available. BC053643 mRNA Translation: AAH53643.1 Different initiation. |
CCDSi | CCDS11724.1 [Q7Z6J9-1] |
RefSeqi | NP_997229.2, NM_207346.2 [Q7Z6J9-1] |
3D structure databases
AlphaFoldDBi | Q7Z6J9 |
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 129721, 42 interactors |
CORUMi | Q7Z6J9 |
IntActi | Q7Z6J9, 22 interactors |
MINTi | Q7Z6J9 |
STRINGi | 9606.ENSP00000327487 |
PTM databases
iPTMneti | Q7Z6J9 |
PhosphoSitePlusi | Q7Z6J9 |
Genetic variation databases
BioMutai | TSEN54 |
DMDMi | 296452961 |
Proteomic databases
EPDi | Q7Z6J9 |
jPOSTi | Q7Z6J9 |
MassIVEi | Q7Z6J9 |
MaxQBi | Q7Z6J9 |
PaxDbi | Q7Z6J9 |
PeptideAtlasi | Q7Z6J9 |
PRIDEi | Q7Z6J9 |
ProteomicsDBi | 69429 [Q7Z6J9-1] 69430 [Q7Z6J9-2] |
Protocols and materials databases
Antibodypediai | 32191, 56 antibodies from 18 providers |
DNASUi | 283989 |
Genome annotation databases
Ensembli | ENST00000333213.11; ENSP00000327487.6; ENSG00000182173.14 ENST00000679429.1; ENSP00000505403.1; ENSG00000182173.14 [Q7Z6J9-2] |
GeneIDi | 283989 |
KEGGi | hsa:283989 |
MANE-Selecti | ENST00000333213.11; ENSP00000327487.6; NM_207346.3; NP_997229.2 |
UCSCi | uc002jof.2, human [Q7Z6J9-1] |
Organism-specific databases
CTDi | 283989 |
DisGeNETi | 283989 |
GeneCardsi | TSEN54 |
GeneReviewsi | TSEN54 |
HGNCi | HGNC:27561, TSEN54 |
HPAi | ENSG00000182173, Low tissue specificity |
MalaCardsi | TSEN54 |
MIMi | 225753, phenotype 277470, phenotype 608755, gene 610204, phenotype |
neXtProti | NX_Q7Z6J9 |
OpenTargetsi | ENSG00000182173 |
Orphaneti | 2524, Pontocerebellar hypoplasia type 2 166063, Pontocerebellar hypoplasia type 4 |
PharmGKBi | PA142670692 |
VEuPathDBi | HostDB:ENSG00000182173 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG4772, Eukaryota |
GeneTreei | ENSGT00390000004214 |
HOGENOMi | CLU_033069_1_0_1 |
InParanoidi | Q7Z6J9 |
OMAi | AMVLQHI |
OrthoDBi | 684082at2759 |
PhylomeDBi | Q7Z6J9 |
TreeFami | TF314691 |
Enzyme and pathway databases
BRENDAi | 4.6.1.16, 2681 |
PathwayCommonsi | Q7Z6J9 |
Reactomei | R-HSA-6784531, tRNA processing in the nucleus |
SignaLinki | Q7Z6J9 |
Miscellaneous databases
BioGRID-ORCSi | 283989, 512 hits in 1091 CRISPR screens |
ChiTaRSi | TSEN54, human |
GenomeRNAii | 283989 |
Pharosi | Q7Z6J9, Tbio |
PROi | PR:Q7Z6J9 |
RNActi | Q7Z6J9, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000182173, Expressed in cerebellar hemisphere and 211 other tissues |
ExpressionAtlasi | Q7Z6J9, baseline and differential |
Genevisiblei | Q7Z6J9, HS |
Family and domain databases
InterProi | View protein in InterPro IPR024337, tRNA_splic_suSen54 IPR024336, tRNA_splic_suSen54_N |
PANTHERi | PTHR21027, PTHR21027, 1 hit |
Pfami | View protein in Pfam PF12928, tRNA_int_end_N2, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | SEN54_HUMAN | |
Accessioni | Q7Z6J9Primary (citable) accession number: Q7Z6J9 Secondary accession number(s): Q86WV3, Q86XE4, Q8N9H2 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | July 19, 2004 |
Last sequence update: | May 18, 2010 | |
Last modified: | May 25, 2022 | |
This is version 144 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 17
Human chromosome 17: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families