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 4.4e-07
atypical teratoid / rhabdoid tumor -1.400 2.5e-05
glioblastoma -1.300 4.3e-03
medulloblastoma -1.200 5.5e-04
medulloblastoma, large-cell -1.500 2.1e-03
pancreatic ductal adenocarcinoma liver m... -1.865 2.7e-02
breast carcinoma 1.500 8.4e-26
Pick disease -1.100 1.6e-04
ductal carcinoma in situ 1.300 1.1e-02
invasive ductal carcinoma 2.300 4.4e-03
ovarian cancer 1.800 2.8e-04
pituitary cancer 1.200 4.8e-06

 IMPC Phenotype (1)

Protein-protein Interaction (3)

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.
16421571 2006 DNA sequence and analysis of human chromosome 8.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16341674 2005 Transcriptome analysis of human gastric cancer.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15342556 2004 Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions.
15146197 2004 Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.