Property Summary

NCBI Gene PubMed Count 23
PubMed Score 43.55
PubTator Score 20.61

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (2)

Disease Target Count Z-score Confidence
Hypotrichosis 29 0.0 4.0
Disease Target Count
Hypotrichosis 12 1
Hypotrichosis simplex 7

Expression

 OMIM Phenotype (1)

Gene RIF (1)

PMID Text
21412954 The cause of hereditary hypotrichosis in this family was identified as a c.95G>A (p.Arg32Gln) mutation in the ribosomal protein L21.

AA Sequence

MTNTKGKRRGTRYMFSRPFRKHGVVPLATYMRIYKKGDIVDIKGMGTVQKGMPHKCYHGKTGRVYNVTQH      1 - 70
AVGIVVNKQVKGKILAKRINVRIEHIKHSKSRDSFLKRVKENDQKKKEAKEKGTWVQLKRQPAPPREAHF     71 - 140
VRTNGKEPELLEPIPYEFMA                                                      141 - 160
//

Text Mined References (28)

PMID Year Title
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
24965446 2014 Host factors that interact with the pestivirus N-terminal protease, Npro, are components of the ribonucleoprotein complex.
23636399 2013 Structures of the human and Drosophila 80S ribosome.
22814378 2012 N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
22681889 2012 The mRNA-bound proteome and its global occupancy profile on protein-coding transcripts.
22658674 2012 Insights into RNA biology from an atlas of mammalian mRNA-binding proteins.
21412954 2011 Mutation in ribosomal protein L21 underlies hereditary hypotrichosis simplex.
21269460 2011 Initial characterization of the human central proteome.
19946888 2010 Defining the membrane proteome of NK cells.
17903306 2007 Genome-wide association study of electrocardiographic and heart rate variability traits: the Framingham Heart Study.
15635413 2005 Nucleolar proteome dynamics.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15189156 2004 The molecular mechanics of eukaryotic translation.
14567916 2003 Regulated release of L13a from the 60S ribosomal subunit as a mechanism of transcript-specific translational control.
12962325 2003 Characterization and analysis of posttranslational modifications of the human large cytoplasmic ribosomal subunit proteins by mass spectrometry and Edman sequencing.
12690205 2003 Human chromosome 7: DNA sequence and biology.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11875025 2002 The human ribosomal protein genes: sequencing and comparative analysis of 73 genes.
11773032 2002 Decreased expression of ribosomal proteins in human age-related cataract.
11751223 2001 Differential expression of genes coding for ribosomal proteins in different human tissues.
11401437 2001 A complete map of the human ribosomal protein genes: assignment of 80 genes to the cytogenetic map and implications for human disorders.
11181995 2001 The sequence of the human genome.
9582194 1998 A map of 75 human ribosomal protein genes.
8722009 Structure and evolution of mammalian ribosomal proteins.
7951316 1994 A physical map and candidate genes in the BRCA1 region on chromosome 17q12-21.
7821789 1994 Construction of a human full-length cDNA bank.
7772601 1995 Cloning, sequencing and expression of the L5, L21, L27a, L28, S5, S9, S10 and S29 human ribosomal protein mRNAs.
7581362 1995 Comparison of the positional cloning methods used to isolate the BRCA1 gene.