Property Summary

NCBI Gene PubMed Count 21
Grant Count 5
Funding $272,802.91
PubMed Score 6.95
PubTator Score 7.49

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Relevance (2)

Expression

  Differential Expression (2)

Disease log2 FC p
medulloblastoma, large-cell -1.600 0.000
dermatomyositis 1.100 0.000

Gene RIF (11)

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.
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AA Sequence

MGASDPEVAPWARGGAAGMAGAGAGAGARGGAAAGVEARARDPPPAHRAHPRHPRPAAQPSARRMDGGSG      1 - 70
GLGSGDNAPTTEALFVALGAGVTALSHPLLYVKLLIQVGHEPMPPTLGTNVLGRKVLYLPSFFTYAKYIV     71 - 140
QVDGKIGLFRGLSPRLMSNALSTVTRGSMKKVFPPDEIEQVSNKDDMKTSLKKVVKETSYEMMMQCVSRM    141 - 210
LAHPLHVISMRCMVQFVGREAKYSGVLSSIGKIFKEEGLLGFFVGLIPHLLGDVVFLWGCNLLAHFINAY    211 - 280
LVDDSVSDTPGGLGNDQNPGSQFSQALAIRSYTKFVMGIAVSMLTYPFLLVGDLMAVNNCGLQAGLPPYS    281 - 350
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.
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