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

Gene ID: 283989, updated on 6-Jul-2014
Official Symbol
TSEN54provided by HGNC
Official Full Name
TSEN54 tRNA splicing endonuclease subunitprovided by HGNC
Primary source
HGNC:27561
See related
Ensembl:ENSG00000182173; HPRD:12291; MIM:608755; Vega:OTTHUMG00000179684
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; 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]
See TSEN54 in Epigenomics, MapViewer
Location:
17q25.1
Exon count :
12
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 17 NC_000017.11 (75515707..75524740)
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 KIAA0195 Neighboring gene microRNA 6785 Neighboring gene CASK interacting protein 2 Neighboring gene lethal giant larvae homolog 2 (Drosophila) Neighboring gene myosin XVB pseudogene Neighboring gene RecQ protein-like 5

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
mRNA processing IEA
Inferred from Electronic Annotation
more info
 
tRNA splicing, via endonucleolytic cleavage and ligation IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
nucleolus IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
tRNA-splicing endonuclease subunit Sen54
Names
tRNA-splicing endonuclease subunit Sen54
hsSen54
SEN54 homolog
tRNA-intron endonuclease Sen54

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 

    Range
    5001..13212
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    See proteins identical to NP_997229.2

    Status: REVIEWED

    Source sequence(s)
    BC053643, BE247638, BE251582, BX424294, CV810347
    Consensus CDS
    CCDS11724.1
    UniProtKB/Swiss-Prot
    Q7Z6J9
    Related
    ENSP00000327487, OTTHUMP00000262106, ENST00000333213, OTTHUMT00000447618
    Conserved Domains (1) summary
    pfam12928
    Location:62132
    Blast Score: 229
    tRNA_int_end_N2; tRNA-splicing endonuclease subunit sen54 N-term

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000017.11 

    Range
    75515707..75524740
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006721821.1XP_006721884.1  

    Conserved Domains (1) summary
    pfam12928
    Location:131
    Blast Score: 107
    tRNA_int_end_N2; tRNA-splicing endonuclease subunit sen54 N-term
  2. XM_005257229.1XP_005257286.1  

    Conserved Domains (1) summary
    pfam12928
    Location:62132
    Blast Score: 224
    tRNA_int_end_N2; tRNA-splicing endonuclease subunit sen54 N-term

RNA

  1. XR_243646.1 RNA Sequence

Alternate HuRef

Genomic

  1. AC_000149.1 

    Range
    68936266..68944477
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018928.2 

    Range
    73577646..73585857
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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