Property Summary

NCBI Gene PubMed Count 15
PubMed Score 8.78
PubTator Score 9.76

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (7)

Disease log2 FC p
astrocytic glioma -1.300 0.022
ependymoma -1.500 0.048
psoriasis -1.300 0.003
osteosarcoma 1.093 0.000
medulloblastoma, large-cell 1.100 0.025
interstitial cystitis -1.100 0.005
ovarian cancer -1.400 0.000

Gene RIF (6)

PMID Text
26928228 Expression of ESR1, RMND1 and CCDC170 associated with variants in separate enhancer elements predisposing breast cancer. [meta-analysis]
26395190 Hearing impairment and renal failure are associated with RMND1 mutations.
23022099 The RMND1 mutation caused haploinsufficiency that was rescued by overexpression of the wild-type transcript in mutant fibroblasts; this overexpression increased the levels and activities of mitochondrial respiratory-chain proteins.
23022098 Results demonstrate that the RMND1 complex is necessary for mitochondrial translation, possibly by coordinating the assembly or maintenance of the mitochondrial ribosome.
20877624 Observational study of gene-disease association. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)

AA Sequence

MPATLLRAVARSHHILSKAHQCRRIGHLMLKPLKEFENTTCSTLTIRQSLDLFLPDKTASGLNKSQILEM      1 - 70
NQKKSDTSMLSPLNAARCQDEKAHLPTMKSFGTHRRVTHKPNLLGSKWFIKILKRHFSSVSTETFVPKQD     71 - 140
FPQVKRPLKASRTRQPSRTNLPVLSVNEDLMHCTAFATADEYHLGNLSQDLASHGYVEVTSLPRDAANIL    141 - 210
VMGVENSAKEGDPGTIFFFREGAAVFWNVKDKTMKHVMKVLEKHEIQPYEIALVHWENEELNYIKIEGQS    211 - 280
KLHRGEIKLNSELDLDDAILEKFAFSNALCLSVKLAIWEASLDKFIESIQSIPEALKAGKKVKLSHEEVM    281 - 350
QKIGELFALRHRINLSSDFLITPDFYWDRENLEGLYDKTCQFLSIGRRVKVMNEKLQHCMELTDLMRNHL    351 - 420
NEKRALRLEWMIVILITIEVMFELGRVFF                                             421 - 449
//

Publication (19)

PMID Year Title
26928228 2016 Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170.
26395190 2016 Hearing impairment and renal failure associated with RMND1 mutations.
26238252 2016 Periventricular Calcification, Abnormal Pterins and Dry Thickened Skin: Expanding the Clinical Spectrum of RMND1?
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25604853 2015 RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multiorgan involvement.
25416956 2014 A proteome-scale map of the human interactome network.
25370037 2015 C6ORF97-ESR1 breast cancer susceptibility locus: influence on progression and survival in breast cancer patients.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23022099 2012 Infantile encephaloneuromyopathy and defective mitochondrial translation are due to a homozygous RMND1 mutation.
23022098 2012 An RMND1 Mutation causes encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defect.
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