Property Summary

NCBI Gene PubMed Count 28
PubMed Score 46.63
PubTator Score 15.14

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (8)

Disease log2 FC p
ependymoma -1.300 0.000
glioblastoma -1.600 0.000
atypical teratoid / rhabdoid tumor -1.700 0.000
medulloblastoma -1.200 0.000
medulloblastoma, large-cell -1.500 0.000
pediatric high grade glioma -1.100 0.000
subependymal giant cell astrocytoma -1.102 0.010
ovarian cancer 1.200 0.000

Synonym

Accession Q16795 Q14076 Q2NKX0
Symbols CC6
CI39k
CI-39k
NDUFS2L
SDR22E1

Gene

PANTHER Protein Class (2)

Gene RIF (7)

PMID Text
23223238 NDUFA9 protein is essential for stabilizing the junction between membrane and matrix arms of complex I.
22114105 A pathogenic mutation was found in the complex I subunit encoding the NDUFA9 gene, changing a highly conserved arginine at position 321 to proline
20877624 Observational study of gene-disease association. (HuGE Navigator)
19064571 Observational study of gene-disease association. (HuGE Navigator)
18977241 Observational study of gene-disease association. (HuGE Navigator)
17601350 Observational study of gene-disease association. (HuGE Navigator)
1832859 Study identifies mitochondrial transit peptide and determines mature protein cleavage site in cow ortholog.

AA Sequence

MAAAAQSRVVRVLSMSRSAITAIATSVCHGPPCRQLHHALMPHGKGGRSSVSGIVATVFGATGFLGRYVV      1 - 70
NHLGRMGSQVIIPYRCDKYDIMHLRPMGDLGQLLFLEWDARDKDSIRRVVQHSNVVINLIGRDWETKNFD     71 - 140
FEDVFVKIPQAIAQLSKEAGVEKFIHVSHLNANIKSSSRYLRNKAVGEKVVRDAFPEAIIVKPSDIFGRE    141 - 210
DRFLNSFASMHRFGPIPLGSLGWKTVKQPVYVVDVSKGIVNAVKDPDANGKSFAFVGPSRYLLFHLVKYI    211 - 280
FAVAHRLFLPFPLPLFAYRWVARVFEISPFEPWITRDKVERMHITDMKLPHLPGLEDLGIQATPLELKAI    281 - 350
EVLRRHRTYRWLSAEIEDVKPAKTVNI                                               351 - 377
//

Text Mined References (30)

PMID Year Title
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23223238 2013 Gene knockout using transcription activator-like effector nucleases (TALENs) reveals that human NDUFA9 protein is essential for stabilizing the junction between membrane and matrix arms of complex I.
23209302 2012 KIF14 negatively regulates Rap1a-Radil signaling during breast cancer progression.
22309213 2012 Identification of a molecular component of the mitochondrial acetyltransferase programme: a novel role for GCN5L1.
22114105 2012 Defective NDUFA9 as a novel cause of neonatally fatal complex I disease.
21630459 2011 Proteomic characterization of the human sperm nucleus.
21269460 2011 Initial characterization of the human central proteome.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
19103604 2009 hNOA1 interacts with complex I and DAP3 and regulates mitochondrial respiration and apoptosis.
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