Property Summary

NCBI Gene PubMed Count 14
PubMed Score 7.23
PubTator Score 4.78

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (12)

Disease log2 FC p
osteosarcoma -1.589 0.000
atypical teratoid / rhabdoid tumor -1.400 0.000
glioblastoma -1.300 0.004
medulloblastoma -1.200 0.001
medulloblastoma, large-cell -1.500 0.002
pancreatic ductal adenocarcinoma liver m... -1.865 0.027
breast carcinoma 1.500 0.000
Pick disease -1.100 0.000
ductal carcinoma in situ 1.300 0.011
invasive ductal carcinoma 2.300 0.004
ovarian cancer 1.800 0.000
pituitary cancer 1.200 0.000

Synonym

Accession Q330K2 A8MT28 A8MWF0 B4DQ45 Q8N6U6
Symbols C8orf38

Gene

Gene RIF (3)

PMID Text
23509070 In a forward genetic screen to identify genes that cause neurodegeneration, we identified sicily, the Drosophila melanogaster homologue of human C8ORF38, the loss of which causes Leigh syndrome.
22019594 C8orf38 is a crucial factor required for the translation and/or integration of ND1 into an early-stage assembly intermediate
20877624 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MAASAHGSVWGPLRLGIPGLCCRRPPLGLYARMRRLPGPEVSGRSVAAASGPGAWGTDHYCLELLRKRDY      1 - 70
EGYLCSLLLPAESRSSVFALRAFNVELAQVKDSVSEKTIGLMRMQFWKKTVEDIYCDNPPHQPVAIELWK     71 - 140
AVKRHNLTKRWLMKIVDEREKNLDDKAYRNIKELENYAENTQSSLLYLTLEILGIKDLHADHAASHIGKA    141 - 210
QGIVTCLRATPYHGSRRKVFLPMDICMLHGVSQEDFLRRNQDKNVRDVIYDIASQAHLHLKHARSFHKTV    211 - 280
PVKAFPAFLQTVSLEDFLKKIQRVDFDIFHPSLQQKNTLLPLYLYIQSWRKTY                     281 - 333
//

Text Mined References (18)

PMID Year Title
27466185 2016 Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6.
26741492 2016 A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
24162737 2013 Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.
23509070 2013 The C8ORF38 homologue Sicily is a cytosolic chaperone for a mitochondrial complex I subunit.
22019594 2011 Mutations in the gene encoding C8orf38 block complex I assembly by inhibiting production of the mitochondria-encoded subunit ND1.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20552642 2010 Assembly factors of human mitochondrial complex I and their defects in disease.
19463981 2009 Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease.
18614015 2008 A mitochondrial protein compendium elucidates complex I disease biology.
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