Property Summary

NCBI Gene PubMed Count 16
PubMed Score 4.44
PubTator Score 8.64

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (17)

Synonym

Accession Q9P032 B2R4J5
Symbols My013
C6orf66
HRPAP20
HSPC125
bA22L21.1

Gene

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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