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TSEN54 tRNA splicing endonuclease subunit 54 [ Homo sapiens (human) ]

Gene ID: 283989, updated on 12-Oct-2019

Summary

Official Symbol
TSEN54provided by HGNC
Official Full Name
tRNA splicing endonuclease subunit 54provided by HGNC
Primary source
HGNC:HGNC:27561
See related
Ensembl:ENSG00000182173 MIM:608755
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PCH4; PCH5; PCH2A; sen54; SEN54L
Summary
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]
Expression
Ubiquitous expression in spleen (RPKM 8.3), duodenum (RPKM 7.0) and 25 other tissues See more
Orthologs

Genomic context

See TSEN54 in Genome Data Viewer
Location:
17q25.1
Exon count:
11
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (75516528..75524735)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (73512609..73520821)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene transmembrane protein 94 Neighboring gene microRNA 6785 Neighboring gene CASK interacting protein 2 Neighboring gene Sharpr-MPRA regulatory region 12010 Neighboring gene uncharacterized LOC107985023 Neighboring gene LLGL scribble cell polarity complex component 2 Neighboring gene myosin XVB Neighboring gene RecQ like helicase 5

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from BioSystems

  • Gene Expression, organism-specific biosystem (from REACTOME)
    Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
  • tRNA processing, organism-specific biosystem (from REACTOME)
    tRNA processing, organism-specific biosystemGenes encoding transfer RNAs (tRNAs) are transcribed by RNA polymerase III in the nucleus and by mitochondrial RNA polymerase in the mitochondrion.In the nucleus transcription reactions produce precu...
  • tRNA processing in the nucleus, organism-specific biosystem (from REACTOME)
    tRNA processing in the nucleus, organism-specific biosystemGenes encoding transfer RNAs are transcribed in the nucleus by RNA polymerase III. (Distinct processes of transcription and processing also occur in mitochondria.) The initial transcripts, pre-tRNAs,...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Clone Names

  • FLJ37147

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
contributes_to tRNA-intron endonuclease activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
RNA phosphodiester bond hydrolysis, endonucleolytic IEA
Inferred from Electronic Annotation
more info
 
mRNA processing IEA
Inferred from Electronic Annotation
more info
 
tRNA splicing, via endonucleolytic cleavage and ligation IDA
Inferred from Direct Assay
more info
PubMed 
tRNA splicing, via endonucleolytic cleavage and ligation TAS
Traceable Author Statement
more info
 
tRNA-type intron splice site recognition and cleavage IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
nucleolus IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
tRNA-intron endonuclease complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
tRNA-splicing endonuclease subunit Sen54
Names
SEN54 homolog
TSEN54 tRNA splicing endonuclease subunit
hsSen54
tRNA-intron endonuclease Sen54

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_013041.1 RefSeqGene

    Range
    5001..13208
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_207346.3NP_997229.2  tRNA-splicing endonuclease subunit Sen54

    See identical proteins and their annotated locations for NP_997229.2

    Status: REVIEWED

    Source sequence(s)
    BC053643, BE247638, BE251582, BX424294, CV810347
    Consensus CDS
    CCDS11724.1
    UniProtKB/Swiss-Prot
    Q7Z6J9
    Related
    ENSP00000327487.6, ENST00000333213.11
    Conserved Domains (1) summary
    pfam12928
    Location:63130
    tRNA_int_end_N2; tRNA-splicing endonuclease subunit sen54 N-term

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    75516528..75524735
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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