Property Summary

NCBI Gene PubMed Count 26
PubMed Score 22.32
PubTator Score 19.20

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (5)

Expression

  Differential Expression (7)

Disease log2 FC p
malignant mesothelioma 1.600 3.7e-07
psoriasis 1.100 6.2e-04
osteosarcoma 1.283 2.2e-03
juvenile dermatomyositis 1.113 1.1e-08
lung cancer 1.300 1.4e-03
sonic hedgehog group medulloblastoma 1.100 1.4e-03
ovarian cancer 1.300 1.7e-02

Gene RIF (12)

PMID Text
26354863 Mitochondrial poly(A) polymerase is able to add the discriminator adenosine to tRNATyr.
25008111 The polymerase activity of mtPAP is modulated by LRPPRC/SLIRP; N478D mtPAP mutation decreases its activity and the alteration in poly(A) length causes dysregulation of post-transcriptional expression and lack of respiratory chain complexes.
24651433 Mutation of the MTPAP gene results in a cellular phenotype of increased DNA damage, reduced repair kinetics, increased cell death by apoptosis, and reduced clonogenic survival after exposure to ionizing radiation.
21292163 show that dimerization is required for the catalytic activity of PAPD1
20877624 Observational study of gene-disease association. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
19204726 Observational study of gene-disease association. (HuGE Navigator)
18984674 Observational study of gene-disease association. (HuGE Navigator)
17509149 Observational study of gene-disease association. (HuGE Navigator)
16810331 Characterization of this marker shows that it is orthologous to the human gene KIAA1462 located on HSA10p11.23, where a major quantitative trait locus for morbid obesity has been reported.
16385451 Observational study of gene-disease association. (HuGE Navigator)
15547249 Cloning of a human nuclear-encoded mitochondrial poly(A) polymerase (hmtPAP)that has a role in mitochondrial RNA processing.

AA Sequence

MAVPGVGLLTRLNLCARRRTRVQRPIVRLLSCPGTVAKDLRRDEQPSGSVETGFEDKIPKRRFSEMQNER      1 - 70
REQAQRTVLIHCPEKISENKFLKYLSQFGPINNHFFYESFGLYAVVEFCQKESIGSLQNGTHTPSTAMET     71 - 140
AIPFRSRFFNLKLKNQTSERSRVRSSNQLPRSNKQLFELLCYAESIDDQLNTLLKEFQLTEENTKLRYLT    141 - 210
CSLIEDMAAAYFPDCIVRPFGSSVNTFGKLGCDLDMFLDLDETRNLSAHKISGNFLMEFQVKNVPSERIA    211 - 280
TQKILSVLGECLDHFGPGCVGVQKILNARCPLVRFSHQASGFQCDLTTNNRIALTSSELLYIYGALDSRV    281 - 350
RALVFSVRCWARAHSLTSSIPGAWITNFSLTMMVIFFLQRRSPPILPTLDSLKTLADAEDKCVIEGNNCT    351 - 420
FVRDLSRIKPSQNTETLELLLKEFFEYFGNFAFDKNSINIRQGREQNKPDSSPLYIQNPFETSLNISKNV    421 - 490
SQSQLQKFVDLARESAWILQQEDTDRPSISSNRPWGLVSLLLPSAPNRKSFTKKKSNKFAIETVKNLLES    491 - 560
LKGNRTENFTKTSGKRTISTQT                                                    561 - 582
//

Text Mined References (30)

PMID Year Title
26354863 2015 Mitochondrial poly(A) polymerase is involved in tRNA repair.
25008111 2014 A human mitochondrial poly(A) polymerase mutation reveals the complexities of post-transcriptional mitochondrial gene expression.
24651433 2014 Homozygous mutation of MTPAP causes cellular radiosensitivity and persistent DNA double-strand breaks.
22681889 2012 The mRNA-bound proteome and its global occupancy profile on protein-coding transcripts.
22658674 2012 Insights into RNA biology from an atlas of mammalian mRNA-binding proteins.
21903422 2011 Mapping a dynamic innate immunity protein interaction network regulating type I interferon production.
21292163 2011 Structural basis for dimerization and activity of human PAPD1, a noncanonical poly(A) polymerase.
21269460 2011 Initial characterization of the human central proteome.
20970105 2010 Defective mitochondrial mRNA maturation is associated with spastic ataxia.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
19608861 2009 Lysine acetylation targets protein complexes and co-regulates major cellular functions.
19204726 2009 Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease.
18984674 2009 KIF5B gene sequence variation and response of cardiac stroke volume to regular exercise.
18172165 2008 Degradation of histone mRNA requires oligouridylation followed by decapping and simultaneous degradation of the mRNA both 5' to 3' and 3' to 5'.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
17509149 2007 Sequencing and association analysis of the type 1 diabetes-linked region on chromosome 10p12-q11.
16810331 2006 A novel nuclear-encoded mitochondrial poly(A) polymerase PAPD1 is a potential candidate gene for the extreme obesity related phenotypes in mammals.
16533400 2006 NovelFam3000--uncharacterized human protein domains conserved across model organisms.
16385451 2006 A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15769737 2005 Human mitochondrial mRNAs are stabilized with polyadenylation regulated by mitochondria-specific poly(A) polymerase and polynucleotide phosphorylase.
15547249 2004 Identification of a novel human nuclear-encoded mitochondrial poly(A) polymerase.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15164054 2004 The DNA sequence and comparative analysis of human chromosome 10.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12239557 2002 Gene regulation: reviving the message.
8125298 1994 Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.