Property Summary

NCBI Gene PubMed Count 21
PubMed Score 6.95
PubTator Score 7.49

Knowledge Summary


No data available


  Disease (1)

Disease Target Count P-value
medulloblastoma, large-cell 6234 1.1e-05
dermatomyositis 966 2.1e-04


  Differential Expression (2)

Disease log2 FC p
medulloblastoma, large-cell -1.600 1.1e-05
dermatomyositis 1.100 2.1e-04

Gene RIF (11)

26692143 Results indicate that EGR-1 is a transcriptional regulator of MTCH1 and give some clues about the cellular processes in which MTCH1 might participate.
24035008 Mtch1 antibody positive neuro-Bechet's disease patients had more attacks, increased disability and lower serum nucleosome levels.
23266187 Compares and contrasts all the known human SLC25A* genes and includes functional information.
23207240 Data indicate that the formation of cytochrome c-Apaf-1 apoptosome and the presence of Smac are absolutely required for PSAP-induced apoptosis.
22277967 Strong candidate gene for mitochondrial disease, based on recessive mutations detected in infantile patients
22190034 HIV-1 Nef is identified to have a physical interaction with mitochondrial carrier 1 (MTCH1) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses
20877624 Observational study of gene-disease association. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
18291114 Data show that all PSAP splicing isoforms are localized in the mitochondria and are pro-apoptotic.
17670888 PSAP has two proapoptotic isoforms generated by alternative splicing, and both proteins are imported into the mitochondrial outer membrane using multiple internal targeting signals, and both contain two proapoptotic domains.
12377771 mitochondrial localization and proapoptotic activity of PSAP suggest that it is an important regulator of apoptosis

AA Sequence

PVFKSWIHCWKYLSVQGQLFRGSSLLFRRVSSGSCFALE                                   351 - 389

Text Mined References (24)

PMID Year Title
26692143 2016 Early growth response 1 (EGR-1) is a transcriptional regulator of mitochondrial carrier homolog 1 (MTCH 1)/presenilin 1-associated protein (PSAP).
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
24927181 2014 Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
24129315 2014 Immunoaffinity enrichment and mass spectrometry analysis of protein methylation.
24035008 2013 Mitochondrial carrier homolog 1 (Mtch1) antibodies in neuro-Behçet's disease.
23266187 The mitochondrial transporter family SLC25: identification, properties and physiopathology.
23207240 2013 PSAP induces a unique Apaf-1 and Smac-dependent mitochondrial apoptotic pathway independent of Bcl-2 family proteins.
22277967 2012 Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.
21856303 2011 Protein oligomerization mediated by the transmembrane carboxyl terminal domain of Bcl-XL.
21269460 2011 Initial characterization of the human central proteome.
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.
18375015 2008 Exposure of any of two proapoptotic domains of presenilin 1-associated protein/mitochondrial carrier homolog 1 on the surface of mitochondria is sufficient for induction of apoptosis in a Bax/Bak-independent manner.
18291114 2008 Both the N-terminal fragment and the protein-protein interaction domain (PDZ domain) are required for the pro-apoptotic activity of presenilin-associated protein PSAP.
17670888 2007 Two isoforms of PSAP/MTCH1 share two proapoptotic domains and multiple internal signals for import into the mitochondrial outer membrane.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14574404 2003 The DNA sequence and analysis of human chromosome 6.
12975309 2003 The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12377771 2002 The novel presenilin-1-associated protein is a proapoptotic mitochondrial protein.
10810093 2000 Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics.
10551805 1999 Identification of a novel PSD-95/Dlg/ZO-1 (PDZ)-like protein interacting with the C terminus of presenilin-1.
8125298 1994 Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.