Property Summary

NCBI Gene PubMed Count 16
PubMed Score 4.44
PubTator Score 8.64

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (5)

Disease Target Count P-value
atypical teratoid / rhabdoid tumor 4369 1.73830032044719E-7
pilocytic astrocytoma 3086 2.62378956621399E-7
medulloblastoma 1524 3.88442000778959E-7
pediatric high grade glioma 2712 5.01869941858099E-7
medulloblastoma, large-cell 6234 3.6823378231203E-6
glioblastoma 5572 3.79864367452833E-6
primitive neuroectodermal tumor 3031 1.56424910647682E-5
tuberculosis and treatment for 6 months 686 4.1901820248943E-5
lung cancer 4473 2.37690784463521E-4
hepatocellular carcinoma 550 3.67486591410056E-4
invasive ductal carcinoma 2950 0.0017167511750751
astrocytic glioma 2241 0.00348027358752479
ovarian cancer 8492 0.0043990791463835
ependymoma 2514 0.0101089004443636
pancreatic ductal adenocarcinoma liver metastasis 1795 0.0105124539588999
oligodendroglioma 2849 0.0167858338346452
active ulcerative colitis 477 0.0384692287252484
Disease Target Count Z-score Confidence
Mitochondrial encephalomyopathy 18 3.263 1.6
Disease Target Count
Mitochondrial Complex 1 Deficiency 28

Expression

  Differential Expression (17)

Synonym

Accession Q9P032 B2R4J5
Symbols My013
C6orf66
HRPAP20
HSPC125
bA22L21.1

Gene

  Ortholog (14)

Species Source
Chimp OMA EggNOG
Macaque OMA EggNOG Inparanoid
Mouse OMA EggNOG Inparanoid
Rat OMA EggNOG
Dog OMA EggNOG Inparanoid
Horse OMA EggNOG Inparanoid
Cow OMA EggNOG Inparanoid
Pig OMA EggNOG
Opossum OMA EggNOG Inparanoid
Chicken OMA EggNOG
Anole lizard OMA EggNOG Inparanoid
Xenopus OMA EggNOG Inparanoid
Zebrafish OMA EggNOG Inparanoid
Fruitfly OMA EggNOG Inparanoid

Gene RIF (6)

PMID Text
20877624 Observational study of gene-disease association. (HuGE Navigator)
19463981 Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease.
19352385 Specific lack of complex I was detected in thyroid cancers expressing less than 5% of the amount in surrounding non-cancerous tissue.
18179882 Homozygosity mapping of 5 patients from a consanguineous family with infantile mitochondrial encephalomyopathy resulted in the identification of a missense mutation in a conserved residue of the C6ORF66.
17909269 HRPAP20 and TIMELESS as promising markers of tamoxifen resistance in women with ER alpha-positive breast tumors.
17001319 observations suggest that HRPAP20 may be an important regulator of breast tumor cell invasion by a CaM-mediated mechanism that leads to increased MMP-9 secretion

AA Sequence

MGALVIRGIRNFNLENRAEREISKMKPSVAPRHPSTNSLLREQISLYPEVKGEIARKDEKLLSFLKDVYV      1 - 70
DSKDPVSSLQVKAAETCQEPKEFRLPKDHHFDMINIKSIPKGKISIVEALTLLNNHKLFPETWTAEKIMQ     71 - 140
EYQLEQKDVNSLLKYFVTFEVEIFPPEDKKAIRSK                                       141 - 175
//

Text Mined References (21)

PMID Year Title
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25416956 2014 A proteome-scale map of the human interactome network.
25255805 2014 Global profiling of co- and post-translationally N-myristoylated proteomes in human cells.
23670274 2013 Replacement of the C6ORF66 assembly factor (NDUFAF4) restores complex I activity in patient cells.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
21269460 2011 Initial characterization of the human central proteome.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
19463981 2009 Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease.
19352385 2009 Lack of complex I is associated with oncocytic thyroid tumours.
18179882 2008 C6ORF66 is an assembly factor of mitochondrial complex I.
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