Property Summary

NCBI Gene PubMed Count 13
PubMed Score 6.37
PubTator Score 10.15

Knowledge Summary

Patent

No data available

TINX Plot

Expression

  Differential Expression (1)

Disease log2 FC p
medulloblastoma, large-cell -1.200 0.000

Gene RIF (5)

PMID Text
20877624 Observational study of gene-disease association. (HuGE Navigator)
18978678 Observational study of gene-disease association. (HuGE Navigator)
18541145 The methylation of HMRF1L by HMPrmC in human mitochondria is involved in the control of the translation termination process.
18429816 Study identified a human mitochondrial release factor candidate, HMRF1L, and demonstrated that HMRF1L is indeed a mitochondrial protein that functions specifically as an RF for the decoding of mitochondrial UAA and UAG termination codons in vitro.
17803939 mtRF1a is a mitochondrial translation release factor that is capable in vitro and in vivo of terminating translation at UAA/UAG codons.

AA Sequence

MRSRVLWGAARWLWPRRAVGPARRPLSSGSPPLEELFTRGGPLRTFLERQAGSEAHLKVRRPELLAVIKL      1 - 70
LNEKERELRETEHLLHDENEDLRKLAENEITLCQKEITQLKHQIILLLVPSEETDENDLILEVTAGVGGQ     71 - 140
EAMLFTSEIFDMYQQYAAFKRWHFETLEYFPSELGGLRHASASIGGSEAYRHMKFEGGVHRVQRVPKTEK    141 - 210
QGRVHTSTMTVAILPQPTEINLVINPKDLRIDTKRASGAGGQHVNTTDSAVRIVHLPTGVVSECQQERSQ    211 - 280
LKNKELAMTKLRAKLYSMHLEEEINKRQNARKIQIGSKGRSEKIRTYNFPQNRVTDHRINKTLHDLETFM    281 - 350
QGDYLLDELVQSLKEYADYESLVEIISQKV                                            351 - 380
//

Text Mined References (15)

PMID Year Title
23535732 2013 Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20598281 2010 Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect.
18978678 2008 Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts.
18541145 2008 The human mitochondrial translation release factor HMRF1L is methylated in the GGQ motif by the methyltransferase HMPrmC.
18429816 2008 HMRF1L is a human mitochondrial translation release factor involved in the decoding of the termination codons UAA and UAG.
17803939 2007 mtRF1a is a human mitochondrial translation release factor decoding the major termination codons UAA and UAG.
17207965 2007 hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
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