Property Summary

NCBI Gene PubMed Count 19
PubMed Score 231.12
PubTator Score 68.76

Knowledge Summary

Patent

No data available

TINX Plot

Expression

Gene RIF (2)

PMID Text
20877624 Observational study of gene-disease association. (HuGE Navigator)
15082224 ES1 protein expression was two-fold elevated (P < 0.01) in fetal Down syndrome brain compared to controls and may be a candidate protein involved in the pathogenesis of the brain deficit in DS.

AA Sequence

MAAVRVLVASRLAAASAFTSLSPGGRTPSQRAALHLSVPRPAARVALVLSGCGVYDGTEIHEASAILVHL      1 - 70
SRGGAEVQIFAPDVPQMHVIDHTKGQPSEGESRNVLTESARIARGKITDLANLSAANHDAAIFPGGFGAA     71 - 140
KNLSTFAVDGKDCKVNKEVERVLKEFHQAGKPIGLCCIAPVLAAKVLRGVEVTVGHEQEEGGKWPYAGTA    141 - 210
EAIKALGAKHCVKEVVEAHVDQKNKVVTTPAFMCETALHYIHDGIGAMVRKVLELTGK                211 - 268
//

Text Mined References (20)

PMID Year Title
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23128233 2012 Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
21297633 2011 Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.
21102463 2010 Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
18587394 2008 Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease.
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.
15082224 2004 Expression of cystathionine beta-synthase, pyridoxal kinase, and ES1 protein homolog (mitochondrial precursor) in fetal Down syndrome brain.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
10830953 2000 The DNA sequence of human chromosome 21.
9205129 1997 Genomic organization and complete nucleotide sequence of the human PWP2 gene on chromosome 21.
9179495 1997 Localization of 16 exons to a 450-kb region involved in the autoimmune polyglandular disease type I (APECED) on human chromosome 21q22.3.
9150728 1997 Isolation of a human gene (HES1) with homology to an Escherichia coli and a zebrafish protein that maps to chromosome 21q22.3.
8975701 1996 Isolation and characterization of GT335, a novel human gene conserved in Escherichia coli and mapping to 21q22.3.
8889549 1996 Generation and analysis of 280,000 human expressed sequence tags.
8753807 1996 Isolation of cDNA for a novel human protein KNP-I that is homologous to the E. coli SCRP-27A protein from the autoimmune polyglandular disease type I (APECED) region of chromosome 21q22.3.
2290832 1990 Cleavage-site motifs in mitochondrial targeting peptides.
1286669 1992 Human liver protein map: a reference database established by microsequencing and gel comparison.