Property Summary

NCBI Gene PubMed Count 18
PubMed Score 74.84
PubTator Score 6.33

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
diabetes mellitus -1.200 1.2e-03
ovarian cancer 1.800 7.7e-06

Gene RIF (3)

PMID Text
25808372 study represents the first time that defects in PMPCA and mitochondrial processing peptidase have been described in association with a disease phenotype in humans.
24903103 OxLDL triggers retrograde translocation of arginase2 in aortic endothelial cells via ROCK and mitochondrial processing peptidase.
20877624 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MAAVVLAATRLLRGSGSWGCSRLRFGPPAYRRFSSGGAYPNIPLSSPLPGVPKPVFATVDGQEKFETKVT      1 - 70
TLDNGLRVASQNKFGQFCTVGILINSGSRYEAKYLSGIAHFLEKLAFSSTARFDSKDEILLTLEKHGGIC     71 - 140
DCQTSRDTTMYAVSADSKGLDTVVALLADVVLQPRLTDEEVEMTRMAVQFELEDLNLRPDPEPLLTEMIH    141 - 210
EAAYRENTVGLHRFCPTENVAKINREVLHSYLRNYYTPDRMVLAGVGVEHEHLVDCARKYLLGVQPAWGS    211 - 280
AEAVDIDRSVAQYTGGIAKLERDMSNVSLGPTPIPELTHIMVGLESCSFLEEDFIPFAVLNMMMGGGGSF    281 - 350
SAGGPGKGMFSRLYLNVLNRHHWMYNATSYHHSYEDTGLLCIHASADPRQVREMVEIITKEFILMGGTVD    351 - 420
TVELERAKTQLTSMLMMNLESRPVIFEDVGRQVLATRSRKLPHELCTLIRNVKPEDVKRVASKMLRGKPA    421 - 490
VAALGDLTDLPTYEHIQTALSSKDGRLPRTYRLFR                                       491 - 525
//

Text Mined References (22)

PMID Year Title
26657514 2016 Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25808372 2015 PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia.
24903103 2014 OxLDL triggers retrograde translocation of arginase2 in aortic endothelial cells via ROCK and mitochondrial processing peptidase.
23128233 2012 Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
22664934 2012 Comparison of tear protein levels in breast cancer patients and healthy controls using a de novo proteomic approach.
21269460 2011 Initial characterization of the human central proteome.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
19608861 2009 Lysine acetylation targets protein complexes and co-regulates major cellular functions.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15188402 2004 Proteins associated with type II bone morphogenetic protein receptor (BMPR-II) and identified by two-dimensional gel electrophoresis and mass spectrometry.
15164053 2004 DNA sequence and analysis of human chromosome 9.
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.
11840567 2002 Cluster analysis of an extensive human breast cancer cell line protein expression map database.
11256614 2000 Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing.
10942759 2000 Glycine-rich region of mitochondrial processing peptidase alpha-subunit is essential for binding and cleavage of the precursor proteins.
9299349 1997 Functional cooperation of the mitochondrial processing peptidase subunits.
8590280 1995 Prediction of the coding sequences of unidentified human genes. IV. The coding sequences of 40 new genes (KIAA0121-KIAA0160) deduced by analysis of cDNA clones from human cell line KG-1.
7836378 1995 In vitro characterization of the mitochondrial processing and the potential function of the 68-kDa subunit of renal glutaminase.
7788527 1995 Prediction of the coding sequences of unidentified human genes. III. The coding sequences of 40 new genes (KIAA0081-KIAA0120) deduced by analysis of cDNA clones from human cell line KG-1.