ENSG00000138035


Homo sapiens

Features
Gene ID: ENSG00000138035
  
Biological name :PNPT1
  
Synonyms : PNPT1 / polyribonucleotide nucleotidyltransferase 1 / Q8TCS8
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 2
Strand: -1
Band: p16.1
Gene start: 55634265
Gene end: 55693910
  
Corresponding Affymetrix probe sets: 225291_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000486227
Ensembl peptide - ENSP00000411057
Ensembl peptide - ENSP00000411994
Ensembl peptide - ENSP00000260604
Ensembl peptide - ENSP00000393953
Ensembl peptide - ENSP00000400646
NCBI entrez gene - 87178     See in Manteia.
OMIM - 610316
RefSeq - XM_017005172
RefSeq - NM_033109
RefSeq - XM_005264629
RefSeq Peptide - NP_149100
swissprot - F8WBI3
swissprot - Q8TCS8
swissprot - H7BXF6
swissprot - H7C3C5
Ensembl - ENSG00000138035
  
Related genetic diseases (OMIM): 614932 - Combined oxidative phosphorylation deficiency 13, 614932
  614934 - Deafness, autosomal recessive 70, 614934
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
 PNPT1ENSGALG00000043545Gallus gallus
 Pnpt1ENSMUSG00000020464Mus musculus


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR001247  Exoribonuclease, phosphorolytic domain 1
 IPR003029  S1 domain
 IPR004087  K Homology domain
 IPR004088  K Homology domain, type 1
 IPR012162  Polyribonucleotide nucleotidyltransferase
 IPR012340  Nucleic acid-binding, OB-fold
 IPR015847  Exoribonuclease, phosphorolytic domain 2
 IPR015848  Polyribonucleotide nucleotidyltransferase, RNA-binding domain
 IPR020568  Ribosomal protein S5 domain 2-type fold
 IPR022967  RNA-binding domain, S1
 IPR027408  PNPase/RNase PH domain superfamily
 IPR036345  Exoribonuclease, PH domain 2 superfamily
 IPR036456  Polyribonucleotide nucleotidyltransferase, RNA-binding domain superfamily
 IPR036612  K Homology domain, type 1 superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000957 mitochondrial RNA catabolic process IDA
 biological_processGO:0000958 mitochondrial mRNA catabolic process IDA
 biological_processGO:0000962 positive regulation of mitochondrial RNA catabolic process IDA
 biological_processGO:0000964 mitochondrial RNA 5"-end processing IMP
 biological_processGO:0000965 mitochondrial RNA 3"-end processing IMP
 biological_processGO:0006396 RNA processing IEA
 biological_processGO:0006397 mRNA processing IEA
 biological_processGO:0006401 RNA catabolic process IDA
 biological_processGO:0006402 mRNA catabolic process IEA
 biological_processGO:0034599 cellular response to oxidative stress IDA
 biological_processGO:0035458 cellular response to interferon-beta IDA
 biological_processGO:0035927 RNA import into mitochondrion IDA
 biological_processGO:0035928 rRNA import into mitochondrion IDA
 biological_processGO:0043457 regulation of cellular respiration ISS
 biological_processGO:0043631 RNA polyadenylation IDA
 biological_processGO:0045926 negative regulation of growth IDA
 biological_processGO:0051260 protein homooligomerization IDA
 biological_processGO:0051591 response to cAMP IEA
 biological_processGO:0060416 response to growth hormone IEA
 biological_processGO:0061014 positive regulation of mRNA catabolic process IMP
 biological_processGO:0070207 protein homotrimerization IDA
 biological_processGO:0070584 mitochondrion morphogenesis ISS
 biological_processGO:0071042 nuclear polyadenylation-dependent mRNA catabolic process IDA
 biological_processGO:0071850 mitotic cell cycle arrest IDA
 biological_processGO:0090305 nucleic acid phosphodiester bond hydrolysis IEA
 biological_processGO:0090503 RNA phosphodiester bond hydrolysis, exonucleolytic IEA
 biological_processGO:0097222 mitochondrial mRNA polyadenylation IMP
 biological_processGO:0097421 liver regeneration IEA
 biological_processGO:2000627 positive regulation of miRNA catabolic process IDA
 biological_processGO:2000772 regulation of cellular senescence IDA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005739 mitochondrion IEA
 cellular_componentGO:0005758 mitochondrial intermembrane space IEA
 cellular_componentGO:0005789 endoplasmic reticulum membrane IEA
 cellular_componentGO:0005829 cytosol IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0042788 polysomal ribosome IEA
 cellular_componentGO:0045025 mitochondrial degradosome IDA
 molecular_functionGO:0000175 3"-5"-exoribonuclease activity IDA
 molecular_functionGO:0003676 nucleic acid binding IEA
 molecular_functionGO:0003723 RNA binding IEA
 molecular_functionGO:0004518 nuclease activity IEA
 molecular_functionGO:0004527 exonuclease activity IEA
 molecular_functionGO:0004654 polyribonucleotide nucleotidyltransferase activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008266 poly(U) RNA binding IDA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0016779 nucleotidyltransferase activity IEA
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0034046 poly(G) binding IDA
 molecular_functionGO:0035198 miRNA binding IDA


Pathways (from Reactome)
Pathway description
No match


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:0000365 Hearing loss 
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 HP:0000762 Decreased nerve conduction velocities 
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 HP:0001265 Hyporeflexia 
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 HP:0001266 Choreoathetosis 
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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:0001344 Absent speech development 
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 HP:0001510 Growth retardation 
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 HP:0003202 Amyotrophy "The presence of muscular atrophy (which is also known as amyotrophy)." [HPO:curators]
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 HP:0006829 Severe muscular hypotonia "A severe degree of muscular hypotonia characterized by markedly reduced muscle tone." [HPO:curators]
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 HP:0100660 Dyskinesis "A movement disorder which consists of effects including diminished voluntary movements and the presence of involuntary movements." [HPO:sdoelken]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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