Property Summary

NCBI Gene PubMed Count 14
PubMed Score 53.89
PubTator Score 32.82

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
osteosarcoma 1.765 2.2e-04
ovarian cancer -1.100 8.9e-06

Gene RIF (5)

PMID Text
23553477 Our data show that NUBPL mutations are associated with a unique, consistent, and recognizable MRI pattern.
20921969 Observational study and genome-wide association study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20877624 Observational study of gene-disease association. (HuGE Navigator)
20818383 Mutations in NUBPL is associated with complex I deficiency.
19752196 These data identify huInd1 as a new assembly factor for human respiratory complex I with a possible role in the delivery of one or more Fe/S clusters to complex I subunits.[Ind1]

AA Sequence

MGIWQRLLLFGGVSLRAGGGATAPLGGSRAMVCGRQLSGAGSETLKQRRTQIMSRGLPKQKPIEGVKQVI      1 - 70
VVASGKGGVGKSTTAVNLALALAANDSSKAIGLLDVDVYGPSVPKMMNLKGNPELSQSNLMRPLLNYGIA     71 - 140
CMSMGFLVEESEPVVWRGLMVMSAIEKLLRQVDWGQLDYLVVDMPPGTGDVQLSVSQNIPITGAVIVSTP    141 - 210
QDIALMDAHKGAEMFRRVHVPVLGLVQNMSVFQCPKCKHKTHIFGADGARKLAQTLGLEVLGDIPLHLNI    211 - 280
REASDTGQPIVFSQPESDEAKAYLRIAVEVVRRLPSPSE                                   281 - 319
//

Text Mined References (16)

PMID Year Title
24722188 2014 Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism.
23553477 2013 NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern.
22072591 2012 Next-generation sequencing in molecular diagnosis: NUBPL mutations highlight the challenges of variant detection and interpretation.
21269460 2011 Initial characterization of the human central proteome.
20921969 2012 Genome-wide association study of antipsychotic-induced QTc interval prolongation.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20818383 2010 High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.
19752196 2009 Human ind1, an iron-sulfur cluster assembly factor for respiratory complex I.
19010793 2009 Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.
18521091 2009 Whole genome association study identifies polymorphisms associated with QT prolongation during iloperidone treatment of schizophrenia.
17207965 2007 hORFeome v3.1: a resource of human open reading frames representing over 10,000 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.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.