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UniProtKB - Q7Z6J9 (SEN54_HUMAN)

Entry version 131 (16 Oct 2019)
Sequence version 3 (18 May 2010)
Previous versions | rss
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Protein

tRNA-splicing endonuclease subunit Sen54

Gene

TSEN54

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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 Publication

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processmRNA processing, tRNA processing

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...BioCyci		MetaCyc:HS11953-MONOMER

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-6784531 tRNA processing in the nucleus

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
tRNA-splicing endonuclease subunit Sen54
Alternative name(s):
SEN54 homolog
Short name:
HsSEN54
tRNA-intron endonuclease Sen54
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:TSEN54
Synonyms:SEN54
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 17

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:27561 TSEN54

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		608755 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q7Z6J9

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Pontocerebellar hypoplasia 4 (PCH4)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_05481293S → P in PCH4. 1 PublicationCorresponds to variant dbSNP:rs113994151EnsemblClinVar.1
Natural variantiVAR_054813307A → S in PCH2A and PCH4. 2 PublicationsCorresponds to variant dbSNP:rs113994152EnsemblClinVar.1
Pontocerebellar hypoplasia 2A (PCH2A)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_073351119Y → D in PCH2A. 1 Publication1
Natural variantiVAR_054813307A → S in PCH2A and PCH4. 2 PublicationsCorresponds to variant dbSNP:rs113994152EnsemblClinVar.1
Pontocerebellar hypoplasia 5 (PCH5)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIM

Keywords - Diseasei

Disease mutation, Neurodegeneration, Pontocerebellar hypoplasia

Organism-specific databases

DisGeNET

More...DisGeNETi		283989

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		TSEN54

MalaCards human disease database

More...MalaCardsi		TSEN54
MIMi225753 phenotype
277470 phenotype
610204 phenotype

Open Targets

More...OpenTargetsi		ENSG00000182173

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		2254 Pontocerebellar hypoplasia type 1
2524 Pontocerebellar hypoplasia type 2
166063 Pontocerebellar hypoplasia type 4
166068 Pontocerebellar hypoplasia type 5

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA142670692

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q7Z6J9

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		TSEN54

Domain mapping of disease mutations (DMDM)

More...DMDMi		296452961

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001940291 – 526tRNA-splicing endonuclease subunit Sen54Add BLAST526

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei1N-acetylmethionineCombined sources1
Modified residuei178PhosphoserineCombined sources1
Modified residuei180PhosphotyrosineCombined sources1
Modified residuei267PhosphoserineCombined sources1
Modified residuei316Omega-N-methylarginineCombined sources1

Keywords - PTMi

Acetylation, Methylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q7Z6J9

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q7Z6J9

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q7Z6J9

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q7Z6J9

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q7Z6J9

PeptideAtlas

More...PeptideAtlasi		Q7Z6J9

PRoteomics IDEntifications database

More...PRIDEi		Q7Z6J9

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		69429 [Q7Z6J9-1]
69430 [Q7Z6J9-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q7Z6J9

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q7Z6J9

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000182173 Expressed in 194 organ(s), highest expression level in cerebellar hemisphere

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q7Z6J9 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q7Z6J9 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA053097

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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.

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		129721, 12 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q7Z6J9

Protein interaction database and analysis system

More...IntActi		Q7Z6J9, 22 interactors

Molecular INTeraction database

More...MINTi		Q7Z6J9

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000327487

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the SEN54 family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG4772 Eukaryota
ENOG4111KNC LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00390000004214

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000049169

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q7Z6J9

KEGG Orthology (KO)

More...KOi		K15326

Identification of Orthologs from Complete Genome Data

More...OMAi		REVRRCR

Database of Orthologous Groups

More...OrthoDBi		1097566at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q7Z6J9

TreeFam database of animal gene trees

More...TreeFami		TF314691

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR024337 tRNA_splic_suSen54
IPR024336 tRNA_splic_suSen54_N

The PANTHER Classification System

More...PANTHERi		PTHR21027 PTHR21027, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF12928 tRNA_int_end_N2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q7Z6J9-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        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
Length:526
Mass (Da):58,819
Last modified:May 18, 2010 - v3
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i857D95C8F7C39461
GO
Isoform 2 (identifier: Q7Z6J9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     157-177: VFSHLKRLGYVVRRFQPSSVL → PPEEVGLCGSTIPTKLCPVPV
     178-526: Missing.

Note: No experimental confirmation available.
Show »
Length:177
Mass (Da):19,981
Checksum:i68B620EF98884157
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
J9JIH8J9JIH8_HUMAN
tRNA-splicing endonuclease subunit ...
TSEN54
259Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
J3QLM6J3QLM6_HUMAN
tRNA-splicing endonuclease subunit ...
TSEN54
178Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
J3QRQ5J3QRQ5_HUMAN
tRNA-splicing endonuclease subunit ...
TSEN54
167Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E7EN92E7EN92_HUMAN
tRNA-splicing endonuclease subunit ...
TSEN54
72Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
J3KRC5J3KRC5_HUMAN
tRNA-splicing endonuclease subunit ...
TSEN54
142Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAH53643 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0194594E → DCombined sources2 PublicationsCorresponds to variant dbSNP:rs7216673EnsemblClinVar.1
Natural variantiVAR_01946138H → Q. Corresponds to variant dbSNP:rs8079373EnsemblClinVar.1
Natural variantiVAR_07335085E → V Found in familial late-onset hereditary ataxia; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1179247981Ensembl.1
Natural variantiVAR_05481293S → P in PCH4. 1 PublicationCorresponds to variant dbSNP:rs113994151EnsemblClinVar.1
Natural variantiVAR_073351119Y → D in PCH2A. 1 Publication1
Natural variantiVAR_057721137I → L. Corresponds to variant dbSNP:rs11559205EnsemblClinVar.1
Natural variantiVAR_054813307A → S in PCH2A and PCH4. 2 PublicationsCorresponds to variant dbSNP:rs113994152EnsemblClinVar.1
Natural variantiVAR_019462347K → N1 PublicationCorresponds to variant dbSNP:rs9911502EnsemblClinVar.1
Natural variantiVAR_019463437A → V1 PublicationCorresponds to variant dbSNP:rs8064529EnsemblClinVar.1
Natural variantiVAR_057722525G → R. Corresponds to variant dbSNP:rs11870627EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_010988157 – 177VFSHL…PSSVL → PPEEVGLCGSTIPTKLCPVP V in isoform 2. 1 PublicationAdd BLAST21
Alternative sequenceiVSP_010989178 – 526Missing in isoform 2. 1 PublicationAdd BLAST349

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS11724.1 [Q7Z6J9-1]

NCBI Reference Sequences

More...RefSeqi		NP_997229.2, NM_207346.2 [Q7Z6J9-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000333213; ENSP00000327487; ENSG00000182173 [Q7Z6J9-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		283989

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:283989

UCSC genome browser

More...UCSCi		uc002jof.2 human [Q7Z6J9-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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.
CCDSiCCDS11724.1 [Q7Z6J9-1]
RefSeqiNP_997229.2, NM_207346.2 [Q7Z6J9-1]

3D structure databases

Database of comparative protein structure models

More...ModBasei		Search...

SWISS-MODEL Interactive Workspace

More...SWISS-MODEL-Workspacei		Submit a new modelling project...

Protein-protein interaction databases

BioGridi129721, 12 interactors
CORUMiQ7Z6J9
IntActiQ7Z6J9, 22 interactors
MINTiQ7Z6J9
STRINGi9606.ENSP00000327487

PTM databases

iPTMnetiQ7Z6J9
PhosphoSitePlusiQ7Z6J9

Polymorphism and mutation databases

BioMutaiTSEN54
DMDMi296452961

Proteomic databases

EPDiQ7Z6J9
jPOSTiQ7Z6J9
MassIVEiQ7Z6J9
MaxQBiQ7Z6J9
PaxDbiQ7Z6J9
PeptideAtlasiQ7Z6J9
PRIDEiQ7Z6J9
ProteomicsDBi69429 [Q7Z6J9-1]
69430 [Q7Z6J9-2]

Genome annotation databases

EnsembliENST00000333213; ENSP00000327487; ENSG00000182173 [Q7Z6J9-1]
GeneIDi283989
KEGGihsa:283989
UCSCiuc002jof.2 human [Q7Z6J9-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		283989
DisGeNETi283989

GeneCards: human genes, protein and diseases

More...GeneCardsi		TSEN54
GeneReviewsiTSEN54
HGNCiHGNC:27561 TSEN54
HPAiHPA053097
MalaCardsiTSEN54
MIMi225753 phenotype
277470 phenotype
608755 gene
610204 phenotype
neXtProtiNX_Q7Z6J9
OpenTargetsiENSG00000182173
Orphaneti2254 Pontocerebellar hypoplasia type 1
2524 Pontocerebellar hypoplasia type 2
166063 Pontocerebellar hypoplasia type 4
166068 Pontocerebellar hypoplasia type 5
PharmGKBiPA142670692

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG4772 Eukaryota
ENOG4111KNC LUCA
GeneTreeiENSGT00390000004214
HOGENOMiHOG000049169
InParanoidiQ7Z6J9
KOiK15326
OMAiREVRRCR
OrthoDBi1097566at2759
PhylomeDBiQ7Z6J9
TreeFamiTF314691

Enzyme and pathway databases

BioCyciMetaCyc:HS11953-MONOMER
ReactomeiR-HSA-6784531 tRNA processing in the nucleus

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		TSEN54 human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		283989
PharosiQ7Z6J9

Protein Ontology

More...PROi		PR:Q7Z6J9

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000182173 Expressed in 194 organ(s), highest expression level in cerebellar hemisphere
ExpressionAtlasiQ7Z6J9 baseline and differential
GenevisibleiQ7Z6J9 HS

Family and domain databases

InterProiView protein in InterPro
IPR024337 tRNA_splic_suSen54
IPR024336 tRNA_splic_suSen54_N
PANTHERiPTHR21027 PTHR21027, 1 hit
PfamiView protein in Pfam
PF12928 tRNA_int_end_N2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiSEN54_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q7Z6J9
Secondary accession number(s): Q86WV3, Q86XE4, Q8N9H2
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 19, 2004
Last sequence update: May 18, 2010
Last modified: October 16, 2019
This is version 131 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. SIMILARITY comments
    Index of protein domains and families
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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