Property Summary

NCBI Gene PubMed Count 17
Grant Count 9
R01 Count 2
Funding $549,750
PubMed Score 78.67
PubTator Score 220.58

Knowledge Summary

Patent

No data available

Expression

Gene RIF (5)

PMID Text
21837367 Results describe the association between the MTX1 and beta-glucocerebrosidase genes and its possible effect on Parkinson disease.
20877624 Observational study of gene-disease association. (HuGE Navigator)
17624330 mitofilin helps regulate mitochondrial morphology and at least four of the associated proteins (metaxins 1 and 2, SAM50 and CHCHD3) have been implicated in protein import
17510655 The pathway of Voltage-dependent anion-selective channel biogenesis in human mitochondria involves the TOM complex, Sam50 and metaxins, and that it is evolutionarily conserved.
15024629 Single Nucleotide Polymorphism in metaxin 1 is associated with Gaucher disease

AA Sequence

MLLGGPPRSPRSGTSPKGPWSSTGHVQFGKSPQTWPRRTRPRSPEPAAPSGVRGSTWTRRRDTPRRAGPT      1 - 70
ALSRYVGHLWMGRRPPSPEARGPVPRSSAASRARRSLASPGISPGPLTATIGGAVAGGGPRQGRAEAHKE     71 - 140
VFPGQRVGKMAAPMELFCWSGGWGLPSVDLDSLAVLTYARFTGAPLKVHKISNPWQSPSGTLPALRTSHG    141 - 210
EVISVPHKIITHLRKEKYNADYDLSARQGADTLAFMSLLEEKLLPVLVHTFWIDTKNYVEVTRKWYAEAM    211 - 280
PFPLNFFLPGRMQRQYMERLQLLTGEHRPEDEEELEKELYREARECLTLLSQRLGSQKFFFGDAPASLDA    281 - 350
FVFSYLALLLQAKLPSGKLQVHLRGLHNLCAYCTHILSLYFPWDGAEVPPQRQTPAGPETEEEPYRRRNQ    351 - 420
ILSVLAGLAAMVGYALLSGIVSIQRATPARAPGTRTLGMAEEDEEE                            421 - 466
//

Publication (25)

PMID Year Title
25997101 2015 QIL1 is a novel mitochondrial protein required for MICOS complex stability and cristae morphology.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25621951 2015 USP30 and parkin homeostatically regulate atypical ubiquitin chains on mitochondria.
22797727 2012 Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.
22114354 2012 MINOS1 is a conserved component of mitofilin complexes and required for mitochondrial function and cristae organization.
21837367 2011 Homozygosity for the MTX1 c.184T>A (p.S63T) alteration modifies the age of onset in GBA-associated Parkinson's disease.
21269460 2011 Initial characterization of the human central proteome.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17624330 2007 The mitochondrial inner membrane protein mitofilin exists as a complex with SAM50, metaxins 1 and 2, coiled-coil-helix coiled-coil-helix domain-containing protein 3 and 6 and DnaJC11.
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