| Tbio | Mitochondrial carrier homolog 1 |
Potential mitochondrial transporter. May play a role in apoptosis.
This gene encodes a member of the mitochondrial carrier family. The encoded protein is localized to the mitochondrion inner membrane and induces apoptosis independent of the proapoptotic proteins Bax and Bak. Pseudogenes on chromosomes 6 and 11 have been identified for this gene. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Oct 2012]
This gene encodes a member of the mitochondrial carrier family. The encoded protein is localized to the mitochondrion inner membrane and induces apoptosis independent of the proapoptotic proteins Bax and Bak. Pseudogenes on chromosomes 6 and 11 have been identified for this gene. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Oct 2012]
Comments
| Disease | Target Count | P-value |
|---|---|---|
| medulloblastoma, large-cell | 6234 | 1.1e-05 |
| dermatomyositis | 966 | 2.1e-04 |
| Disease | log2 FC | p |
|---|---|---|
| medulloblastoma, large-cell | -1.600 | 1.1e-05 |
| dermatomyositis | 1.100 | 2.1e-04 |
| PMID | Text | |
|---|---|---|
| 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 |
MGASDPEVAPWARGGAAGMAGAGAGAGARGGAAAGVEARARDPPPAHRAHPRHPRPAAQPSARRMDGGSG 1 - 70 GLGSGDNAPTTEALFVALGAGVTALSHPLLYVKLLIQVGHEPMPPTLGTNVLGRKVLYLPSFFTYAKYIV 71 - 140 QVDGKIGLFRGLSPRLMSNALSTVTRGSMKKVFPPDEIEQVSNKDDMKTSLKKVVKETSYEMMMQCVSRM 141 - 210 LAHPLHVISMRCMVQFVGREAKYSGVLSSIGKIFKEEGLLGFFVGLIPHLLGDVVFLWGCNLLAHFINAY 211 - 280 LVDDSVSDTPGGLGNDQNPGSQFSQALAIRSYTKFVMGIAVSMLTYPFLLVGDLMAVNNCGLQAGLPPYS 281 - 350 PVFKSWIHCWKYLSVQGQLFRGSSLLFRRVSSGSCFALE 351 - 389 //
| 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. |
