Property Summary

NCBI Gene PubMed Count 14
PubMed Score 1.72
PubTator Score 3.23

Knowledge Summary

Patent

No data available

Expression

Gene RIF (1)

PMID Text
23099647 The results suggest that EPS8L3 is a causative gene for Marie Unna hereditary hypotrichosis.

AA Sequence

MSRPSSRAIYLHRKEYSQNLTSEPTLLQHRVEHLMTCKQGSQRVQGPEDALQKLFEMDAQGRVWSQDLIL      1 - 70
QVRDGWLQLLDIETKEELDSYRLDSIQAMNVALNTCSYNSILSITVQEPGLPGTSTLLFQCQEVGAERLK     71 - 140
TSLQKALEEELEQRPRLGGLQPGQDRWRGPAMERPLPMEQARYLEPGIPPEQPHQRTLEHSLPPSPRPLP    141 - 210
RHTSAREPSAFTLPPPRRSSSPEDPERDEEVLNHVLRDIELFMGKLEKAQAKTSRKKKFGKKNKDQGGLT    211 - 280
QAQYIDCFQKIKHSFNLLGRLATWLKETSAPELVHILFKSLNFILARCPEAGLAAQVISPLLTPKAINLL    281 - 350
QSCLSPPESNLWMGLGPAWTTSRADWTGDEPLPYQPTFSDDWQLPEPSSQAPLGYQDPVSLRRGSHRLGS    351 - 420
TSHFPQEKTHNHDPQPGDPNSRPSSPKPAQPALKMQVLYEFEARNPRELTVVQGEKLEVLDHSKRWWLVK    421 - 490
NEAGRSGYIPSNILEPLQPGTPGTQGQSPSRVPMLRLSSRPEEVTDWLQAENFSTATVRTLGSLTGSQLL    491 - 560
RIRPGELQMLCPQEAPRILSRLEAVRRMLGISP                                         561 - 593
//

Text Mined References (15)

PMID Year Title
24236410 2014 Two cases of Marie Unna hereditary hypotrichosis: clinical features and mutation analysis of the U2HR and EPS8L3 genes.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
23099647 2012 Exome sequencing identified a missense mutation of EPS8L3 in Marie Unna hereditary hypotrichosis.
19807924 2009 Identification of SH3 domain interaction partners of human FasL (CD178) by phage display screening.
16712791 2006 Identification of intrahepatic cholangiocarcinoma related genes by comparison with normal liver tissues using expressed sequence tags.
16710414 2006 The DNA sequence and biological annotation of human chromosome 1.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16341674 2005 Transcriptome analysis of human gastric cancer.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
More...