Property Summary

NCBI Gene PubMed Count 26
Grant Count 4
R01 Count 1
Funding $460,425.17
PubMed Score 22.32
PubTator Score 19.20

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (7)

Disease log2 FC p
malignant mesothelioma 1.600 0.000
psoriasis 1.100 0.001
osteosarcoma 1.283 0.002
juvenile dermatomyositis 1.113 0.000
lung cancer 1.300 0.001
sonic hedgehog group medulloblastoma 1.100 0.001
ovarian cancer 1.300 0.017

Synonym

Accession Q9NVV4 D3DRX0 Q659E3 Q6P7E5 Q9HA74 PAP
Symbols PAPD1
SPAX4

Gene

PANTHER Protein Class (2)

PDB

3PQ1  

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.
More...

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
//

Publication (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.
More...