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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

TSEN54 Gene

protein-coding   GIFtS: 51
GCID: GC17P073512

TSEN54 TRNA Splicing Endonuclease Subunit

(Previous names: tRNA splicing endonuclease 54 homolog (SEN54, S. cerevisiae),...)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
TSEN54 TRNA Splicing Endonuclease Subunit1 2     TRNA Splicing Endonuclease 54 Homolog (SEN54, S. Cerevisiae)1
SEN54 Homolog2 3     SEN54L2
TRNA-Intron Endonuclease Sen542 3     hsSen542
PCH2A2 5     sen542
PCH42 5     TRNA-Splicing Endonuclease Subunit Sen542
SEN543 5     HsSEN543
TRNA Splicing Endonuclease 54 Homolog (S. Cerevisiae)1     

External Ids:    HGNC: 275611   Entrez Gene: 2839892   Ensembl: ENSG000001821737   OMIM: 6087555   UniProtKB: Q7Z6J93   

Export aliases for TSEN54 gene to outside databases

Previous GC identifers: GC17P071025 GC17P068936


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 (TSEN54 tRNA splicing endonuclease subunit) is a protein-coding gene. Diseases associated with TSEN54 include pontocerebellar hypoplasia, and pontocerebellar hypoplasia type 2.

UniProtKB/Swiss-Prot: SEN54_HUMAN, Q7Z6J9
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




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NT_010783.15  NC_018928.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TSEN54 gene promoter:
         NF-1/L   NF-1   Pax-6   HSF1 (long)   HNF-4alpha2   C/EBPalpha   HNF-4alpha1   HOXA5   ZIC2/Zic2   Ik-1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for TSEN54

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TSEN54


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17q25.1   Ensembl cytogenetic band:  17q25.1   HGNC cytogenetic band: 17q25.1

TSEN54 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TSEN54 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P073512:  view genomic region     (about GC identifiers)

Start:
73,512,141 bp from pter      End:
73,520,820 bp from pter
Size:
8,680 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: SEN54_HUMAN, Q7Z6J9 (See protein sequence)
Recommended Name: tRNA-splicing endonuclease subunit Sen54  
Size: 526 amino acids; 58819 Da
Subunit: tRNA splicing endonuclease is a heterotetramer composed of SEN2, SEN15, SEN34/LENG5 and SEN54. 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
Subcellular location: Nucleus (Probable). Nucleus, nucleolus (Probable). Note=May be transiently localized in the
nucleolus (Probable)
Sequence caution: Sequence=AAH53643.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: Q86WV3 Q86XE4 Q8N9H2
Alternative splicing: 2 isoforms:  Q7Z6J9-1   Q7Z6J9-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TSEN54: NX_Q7Z6J9

Explore proteomics data for TSEN54 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q7Z6J9

  • TSEN54 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TSEN54 Protein Expression
    REFSEQ proteins: NP_997229.2  
    ENSEMBL proteins: 
     ENSP00000406559   ENSP00000327487   ENSP00000463619   ENSP00000461928   ENSP00000464335  
     ENSP00000438169  

    Human Recombinant Protein Products for TSEN54: 
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    Novus Biologicals TSEN54 Protein
    Novus Biologicals TSEN54 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for TSEN54 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005730nucleolus IEA--

    TSEN54 for ontologies           About GeneDecksing



    TSEN54 Antibody Products: 
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    Cloud-Clone Corp. ELISAs for TSEN54 
    Cloud-Clone Corp. CLIAs for TSEN54


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    TSEN: tRNA splicing endonuclease subunits

    2 InterPro protein domains:
     IPR024337 tRNA_splic_suSen54
     IPR024336 tRNA_splic_suSen54_N

    Graphical View of Domain Structure for InterPro Entry Q7Z6J9

    ProtoNet protein and cluster: Q7Z6J9

    UniProtKB/Swiss-Prot: SEN54_HUMAN, Q7Z6J9
    Similarity: Belongs to the SEN54 family


    TSEN54 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SEN54_HUMAN, Q7Z6J9
    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:
         2 GenomeRNAi human phenotypes for TSEN54:

     Decreased cell number and incr  Increased gamma-H2AX phosphory 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for TSEN54 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for TSEN54

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TSEN54 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TSEN54 

    miRNA
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    8/13 QIAGEN miScript miRNA Assays for microRNAs that regulate TSEN54 (see all 13):
    hsa-miR-4324 hsa-miR-125a-5p hsa-miR-324-3p hsa-miR-135b hsa-miR-124 hsa-miR-125b hsa-miR-670 hsa-miR-3119
    SwitchGear 3'UTR luciferase reporter plasmidTSEN54 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TSEN54


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TSEN54

    STRING Interaction Network Preview (showing 5 interactants - click image to see more details)

    5/12 Interacting proteins for TSEN54 (Q7Z6J92, 3 ENSP000003274874) via UniProtKB, MINT, STRING, and/or I2D (see all 12)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CSNK2BP678702, 3MINT-8253726 I2D: score=2 
    ENSG00000206406P678702, 3MINT-8253726 I2D: score=2 
    ENSG00000224398P678702, 3MINT-8253726 I2D: score=2 
    ENSG00000224774P678702, 3MINT-8253726 I2D: score=2 
    ENSG00000228875P678702, 3MINT-8253726 I2D: score=2 
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006388tRNA splicing, via endonucleolytic cleavage and ligation IDA17495927
    GO:0006397mRNA processing IEA--

    TSEN54 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for TSEN54 (SEN54)

    Search CenterWatch for drugs/clinical trials and news about TSEN54 / SEN54

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for TSEN54 gene: 
    NM_207346.2  

    Unigene Cluster for TSEN54:

    TRNA splicing endonuclease 54 homolog (S. cerevisiae)
    Hs.378501  [show with all ESTs]
    Unigene Representative Sequence: NM_207346
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000434205 ENST00000333213(uc002joe.1 uc002jof.1) ENST00000583454
    ENST00000580013 ENST00000583173 ENST00000583818 ENST00000578415 ENST00000583634
    ENST00000545228 ENST00000579449 ENST00000577197
    miRNA
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    8/13 QIAGEN miScript miRNA Assays for microRNAs that regulate TSEN54 (see all 13):
    hsa-miR-4324 hsa-miR-125a-5p hsa-miR-324-3p hsa-miR-135b hsa-miR-124 hsa-miR-125b hsa-miR-670 hsa-miR-3119
    SwitchGear 3'UTR luciferase reporter plasmidTSEN54 3' UTR sequence
    Inhib. RNA
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    Clone
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TSEN54
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TSEN54

    Additional mRNA sequence: 

    AK094466.1 AK097583.1 BC045551.1 BC047793.1 BC053643.1 

    15 DOTS entries:

    DT.91747283  DT.91747281  DT.313320  DT.100788387  DT.91747280  DT.95321332  DT.95264248  DT.405140 
    DT.120974747  DT.86846093  DT.92021823  DT.92022341  DT.120974772  DT.120974776  DT.91747288 

    24/134 AceView cDNA sequences (see all 134):

    BM765857 BU628983 AI216620 AI739501 BU628963 BM847178 BM762463 BQ015999 
    AI918568 BM848087 BM920097 BM772825 AI638136 AW247155 AA989219 BM753077 
    BM772437 AI243719 AW770348 CF552240 BQ924972 AA370163 BX421781 BQ286348 

    GeneLoc Exon Structure

    5/12 Alternative Splicing Database (ASD) splice patterns (SP) for TSEN54 (see all 12)    About this scheme

    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:                                                              -           -                                                                                 


    ECgene alternative splicing isoforms for TSEN54

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TSEN54 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTGACATCTC
    TSEN54 Expression
    About this image


    See TSEN54 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TSEN54

    SOURCE GeneReport for Unigene cluster: Hs.378501
        SABiosciences Custom PCR Arrays for TSEN54
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TSEN54

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for TSEN54 gene from 6/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tsen541 , 5 tRNA splicing endonuclease 54 homolog (S. cerevisiae)1, 5 82.41(n)1
    80.95(a)1
      11 (80.91 cM)5
    762651  NM_029557.11  NP_083833.11 
     1158147245 
    chicken
    (Gallus gallus)
    Aves TSEN541 tRNA splicing endonuclease 54 homolog (S. cerevisiae) 58.15(n)
    49.5(a)
      422126  XM_420129.3  XP_420129.2 
    lizard
    (Anolis carolinensis)
    Reptilia TSEN546
    Uncharacterized protein
    50(a)
    1 ↔ 1
    2(114121365-114140023)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.226882 Xenopus laevis transcribed sequence with weak similarity more 70.2(n)    BI349464.1 
    zebrafish
    (Danio rerio)
    Actinopterygii tsen541 tRNA splicing endonuclease 54 homolog (S. cerevisiae) 53.38(n)
    47.21(a)
      553550  NM_001020529.1  NP_001018365.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG56266
    --
    25(a)
    1 ↔ 1
    3L(12197223-12199122)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/245 SNPs in TSEN54 are shown (see all 245)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0548124
    Pontocerebellar hypoplasia 4 (PCH4)4--see VAR_0548122 S P mis40--------
    rs1139941521,2,4
    CPontocerebellar hypoplasia 4 (PCH4)4 pathogenic174602020(+) ACATGG/TCTTCA 2 A S mis11Minor allele frequency- T:0.00NA 2690
    rs1139941531,2
    Cpathogenic174601837(+) AACCCC/TAGGAG 2 Q * stg10--------
    rs1139941541,2
    Cpathogenic174602128(+) TGAACC/TAGCGC 2 Q * stg10--------
    VAR_0194594
    ----see VAR_0194592 E D mis40--------
    VAR_0577214
    ----see VAR_0577212 I L mis40--------
    VAR_0194614
    ----see VAR_0194612 H Q mis40--------
    rs2016233511,2
    C--73513705(+) GCTGAA/C/TCGACC 3 N T I mis10--------
    rs2007192921,2
    --73513706(+) CTGACC/TGACCA 2 T syn10--------
    rs1174563841,2
    C--73513744(+) ATCTGC/TCACCA 1 -- int11Minor allele frequency- T:0.01NA 120

    HapMap Linkage Disequilibrium report for TSEN54 (73512141 - 73520820 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/11 variations for TSEN54 (see all 11):    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv516133CNV Loss19592680
    nsv470603CNV Loss18288195
    nsv908775CNV Loss21882294
    nsv908762CNV Loss21882294
    dgv3256n71CNV Loss21882294
    nsv833542CNV Loss17160897
    dgv3258n71CNV Loss21882294
    nsv833543CNV Loss17160897
    dgv3257n71CNV Loss21882294
    nsv828102CNV Loss20364138


    Human Gene Mutation Database (HGMD): TSEN54
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing TSEN54
    DNA2.0 Custom Variant and Variant Library Synthesis for TSEN54

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 608755   
    OMIM disorders: 277470  225753  
    UniProtKB/Swiss-Prot: SEN54_HUMAN, Q7Z6J9
  • 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. 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.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 12 diseases for TSEN54:    About MalaCards
    pontocerebellar hypoplasia    pontocerebellar hypoplasia type 2    tsen54-related pontocerebellar hypoplasia    pontocerebellar hypoplasia type 4
    pontocerebellar hypoplasia type 5    pontocerebellar hypoplasia type 2a    pontocerebellar hypoplasia type 2 and type 4    choroideremia
    chorea    optic atrophy    microcephaly    choroiditis

    1 disease from the University of Copenhagen DISEASES database for TSEN54:
    Microcephaly

    TSEN54 for disorders           About GeneDecksing

    GeneTests: TSEN54
    GeneReviews: TSEN54

    Export disorders for TSEN54 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for TSEN54 gene, integrated from 9 sources (see all 20):
    (articles sorted by number of sources associating them with TSEN54)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of a human endonuclease complex reveals a link between tRNA splicing and pre-mRNA 3' end formation. (PubMed id 15109492)1, 2, 3 Paushkin S.V....Trotta C.R. (2004)
    2. tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. (PubMed id 18711368)1, 2 Budde B.S.... Baas F. (2008)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. Charting the landscape of tandem BRCT domain-mediated protein interactions. (PubMed id 22990118)1 Woods N.T....Monteiro A.N. (2012)
    6. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    7. Pontocerebellar hypoplasia: review of classification and genetics, and exclusion of several genes known to be important for cerebell ar development. (PubMed id 21383226)1 Maricich S.M....Zoghbi H.Y. (2011)
    8. A directed protein interaction network for investigat ing intracellular signal transduction. (PubMed id 21900206)1 Vinayagam A....Wanker E.E. (2011)
    9. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    10. TSEN54 mutation in a child with pontocerebellar hypopl asia type 1. (PubMed id 21468723)1 Simonati A....Santorelli F.M. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
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    NCBI Bookshelf
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 283989 HGNC: 27561 AceView: SEN54L Ensembl:ENSG00000182173 euGenes: HUgn283989
    ECgene: TSEN54 H-InvDB: TSEN54

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for TSEN54 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for TSEN54 gene:
    Search GeneIP for patents involving TSEN54

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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