ENSG00000170892


Homo sapiens

Features
Gene ID: ENSG00000170892
  
Biological name :TSEN34
  
Synonyms : Q9BSV6 / tRNA splicing endonuclease subunit 34 / TSEN34
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 19
Strand: 1
Band: q13.42
Gene start: 54189938
Gene end: 54194536
  
Corresponding Affymetrix probe sets: 218132_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000379667
Ensembl peptide - ENSP00000305524
Ensembl peptide - ENSP00000379671
Ensembl peptide - ENSP00000408689
Ensembl peptide - ENSP00000400743
Ensembl peptide - ENSP00000397402
NCBI entrez gene - 79042     See in Manteia.
OMIM - 608754
RefSeq - XM_011527295
RefSeq - NM_001077446
RefSeq - NM_001282332
RefSeq - NM_001282333
RefSeq - NM_024075
RefSeq - XM_005278290
RefSeq - XM_011527294
RefSeq Peptide - NP_001070914
RefSeq Peptide - NP_001269262
RefSeq Peptide - NP_076980
RefSeq Peptide - NP_001269261
swissprot - A0A024R4N9
swissprot - Q9BSV6
swissprot - E7EQB3
swissprot - B0V3J0
swissprot - A9C4B9
Ensembl - ENSG00000170892
  
Related genetic diseases (OMIM): 612390 - ?Pontocerebellar hypoplasia type 2C, 612390
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 tsen34ENSDARG00000061370Danio rerio
 Q8BMZ5ENSMUSG00000035585Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR006676  tRNA-splicing endonuclease
 IPR006677  tRNA intron endonuclease, catalytic domain-like
 IPR016690  tRNA-splicing endonuclease, SEN34 subunit
 IPR036167  tRNA intron endonuclease, catalytic domain-like superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000379 tRNA-type intron splice site recognition and cleavage IEA
 biological_processGO:0006388 tRNA splicing, via endonucleolytic cleavage and ligation IEA
 biological_processGO:0006397 mRNA processing IEA
 biological_processGO:0008033 tRNA processing IEA
 biological_processGO:0090305 nucleic acid phosphodiester bond hydrolysis IEA
 biological_processGO:0090501 RNA phosphodiester bond hydrolysis IEA
 biological_processGO:0090502 RNA phosphodiester bond hydrolysis, endonucleolytic IEA
 cellular_componentGO:0000214 tRNA-intron endonuclease complex IEA
 cellular_componentGO:0005634 nucleus IDA
 cellular_componentGO:0005654 nucleoplasm TAS
 cellular_componentGO:0005730 nucleolus IEA
 molecular_functionGO:0000213 tRNA-intron endonuclease activity IEA
 molecular_functionGO:0003676 nucleic acid binding IEA
 molecular_functionGO:0004518 nuclease activity IEA
 molecular_functionGO:0004519 endonuclease activity IEA
 molecular_functionGO:0016829 lyase activity IEA


Pathways (from Reactome)
Pathway description
tRNA processing in the nucleus


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000252 Microcephaly "Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than the age- and gender-dependent norm." [HPO:curators]
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 HP:0000505 Impaired vision 
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 HP:0001320 Cerebellar vermis hypoplasia 
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 HP:0001332 Dystonia "An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk." [HPO:curators]
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 HP:0002072 Chorea "Chorea (Greek for dance ) refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion." [HPO:curators]
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 HP:0100307 Cerebellar hemisphere hypoplasia 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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