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)

Disease log2 FC p
hepatocellular carcinoma 1.100 3.7e-04
astrocytic glioma -2.300 3.5e-03
ependymoma -2.300 1.0e-02
oligodendroglioma -2.100 1.7e-02
glioblastoma -2.500 3.8e-06
atypical teratoid / rhabdoid tumor -2.200 1.7e-07
medulloblastoma -1.500 3.9e-07
medulloblastoma, large-cell -1.800 3.7e-06
primitive neuroectodermal tumor -1.500 1.6e-05
tuberculosis and treatment for 6 months -1.500 4.2e-05
pancreatic ductal adenocarcinoma liver m... -1.021 1.1e-02
lung cancer 2.700 2.4e-04
active ulcerative colitis -1.176 3.8e-02
pediatric high grade glioma -2.100 5.0e-07
pilocytic astrocytoma -1.600 2.6e-07
invasive ductal carcinoma -1.300 1.7e-03
ovarian cancer 1.100 4.4e-03

Synonym

Accession Q9P032 B2R4J5
Symbols My013
C6orf66
HRPAP20
HSPC125
bA22L21.1

Gene

  Ortholog (1)

Species Source Disease
Chimp OMA EggNOG

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.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17909269 2007 Oligonucleotide microarray analysis of estrogen receptor alpha-positive postmenopausal breast carcinomas: identification of HRPAP20 and TIMELESS as outstanding candidate markers to predict the response to tamoxifen.
17001319 2007 HRPAP20: a novel calmodulin-binding protein that increases breast cancer cell invasion.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
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.
14871833 2004 Identification of HRPAP20: a novel phosphoprotein that enhances growth and survival in hormone-responsive tumor cells.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14574404 2003 The DNA sequence and analysis of human chromosome 6.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11042152 2000 Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells.