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 9.2e-11
glioblastoma -1.600 4.1e-06
atypical teratoid / rhabdoid tumor -1.700 4.1e-09
medulloblastoma -1.200 7.0e-06
medulloblastoma, large-cell -1.500 3.2e-05
pediatric high grade glioma -1.100 3.3e-05
subependymal giant cell astrocytoma -1.102 9.6e-03
ovarian cancer 1.200 2.7e-04

Synonym

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

Gene

PANTHER Protein Class (2)

  Ortholog (1)

Species Source Disease
Chimp OMA EggNOG Inparanoid

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.
19064571 2008 Polymorphisms in mitochondrial genes and prostate cancer risk.
19027726 2009 The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative.
18977241 2008 Oxidative stress, telomere length and biomarkers of physical aging in a cohort aged 79 years from the 1932 Scottish Mental Survey.
18287540 2008 GRIM-19 is essential for maintenance of mitochondrial membrane potential.
17601350 2007 A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognition.
17353931 2007 Large-scale mapping of human protein-protein interactions by mass spectrometry.
17209039 2007 Identification of mitochondrial complex I assembly intermediates by tracing tagged NDUFS3 demonstrates the entry point of mitochondrial subunits.
17207965 2007 hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes.
16806233 2007 Identifying leukocyte gene expression patterns associated with plasma lipid levels in human subjects.
16712791 2006 Identification of intrahepatic cholangiocarcinoma related genes by comparison with normal liver tissues using expressed sequence tags.
16023078 2005 Fulminant neurological deterioration in a neonate with Leigh syndrome due to a maternally transmitted missense mutation in the mitochondrial ND3 gene.
15965058 2005 Calcium stimulates mitochondrial biogenesis in human granulosa cells.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
12611891 2003 The subunit composition of the human NADH dehydrogenase obtained by rapid one-step immunopurification.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11112787 2001 Human complex I defects can be resolved by monoclonal antibody analysis into distinct subunit assembly patterns.
9878551 1998 cDNA of eight nuclear encoded subunits of NADH:ubiquinone oxidoreductase: human complex I cDNA characterization completed.
8486360 1993 Construction and evaluation of a hncDNA library of human 12p transcribed sequences derived from a somatic cell hybrid.
8012384 1994 Purification of CpG islands using a methylated DNA binding column.
1832859 1991 NADH:ubiquinone oxidoreductase from bovine heart mitochondria. cDNA sequences of the import precursors of the nuclear-encoded 39 kDa and 42 kDa subunits.