Property Summary

NCBI Gene PubMed Count 31
Grant Count 13
R01 Count 11
Funding $709,518.34
PubMed Score 51.62
PubTator Score 47.40

Knowledge Summary

Patent

No data available

Expression

Gene RIF (17)

PMID Text
27160703 A neuronal stem cell-based model for the treatment of OPHN1 syndrome and other neurological disorders due to ROCK dysfunction.
25170626 results suggest that oligophrenin-1 is involved in tumor progression in prostate cancer
24637888 Our results demonstrate that multiple post-transcriptional events occur on OPHN1, a gene playing an important role in brain function and development.
24105372 This is the first description of an in-frame deletion within the BAR domain of OPHN1 and could provide new insights into the role of this domain in relation to brain and cognitive development or function.
23619296 In response to GPVI stimulation, OPHN1 becomes phosphorylated at Tyr370 and plays a role in the formation of filopodia during platelet spreading on collagen.
22238370 Several genes expressed at exceptionally high levels were identified associated with early oocyte development, TMEFF2, the Rho-GTPase-activating protein oligophrenin 1 (OPHN1) and the mitochondrial-encoded ATPase6 (ATP6).
21796728 This mutation determines the production of a mutant oligophrenin 1 protein with 16 extra amino acids inserted in-frame in the N-terminal BAR (Bin1/amphiphysin/Rvs167) domain. (oligophrenin 1 protein )
20528889 Data suggest that OPHN1 defect may be an important contributory factor to XLMR.
20479760 Observational study of gene-disease association. (HuGE Navigator)
19911011 Observational study of gene-disease association. (HuGE Navigator)
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AA Sequence

MGHPPLEFSDCYLDSPDFRERLKCYEQELERTNKFIKDVIKDGNALISAMRNYSSAVQKFSQTLQSFQFD      1 - 70
FIGDTLTDDEINIAESFKEFAELLNEVENERMMMVHNASDLLIKPLENFRKEQIGFTKERKKKFEKDGER     71 - 140
FYSLLDRHLHLSSKKKESQLQEADLQVDKERHNFFESSLDYVYQIQEVQESKKFNIVEPVLAFLHSLFIS    141 - 210
NSLTVELTQDFLPYKQQLQLSLQNTRNHFSSTREEMEELKKRMKEAPQTCKLPGQPTIEGYLYTQEKWAL    211 - 280
GISWVKYYCQYEKETKTLTMTPMEQKPGAKQGPLDLTLKYCVRRKTESIDKRFCFDIETNERPGTITLQA    281 - 350
LSEANRRLWMEAMDGKEPIYHSPITKQQEMELNEVGFKFVRKCINIIETKGIKTEGLYRTVGSNIQVQKL    351 - 420
LNAFFDPKCPGDVDFHNSDWDIKTITSSLKFYLRNLSEPVMTYRLHKELVSAAKSDNLDYRLGAIHSLVY    421 - 490
KLPEKNREMLELLIRHLVNVCEHSKENLMTPSNMGVIFGPTLMRAQEDTVAAMMNIKFQNIVVEILIEHF    491 - 560
GKIYLGPPEESAAPPVPPPRVTARRHKPITISKRLLRERTVFYTSSLDESEDEIQHQTPNGTITSSIEPP    561 - 630
KPPQHPKLPIQRSGETDPGRKSPSRPILDGKLEPCPEVDVGKLVSRLQDGGTKITPKATNGPMPGSGPTK    631 - 700
TPSFHIKRPAPRPLAHHKEGDADSFSKVRPPGEKPTIIRPPVRPPDPPCRAATPQKPEPKPDIVAGNAGE    701 - 770
ITSSVVASRTRFFETASRKTGSSQGRLPGDES                                          771 - 802
//

Text Mined References (32)

PMID Year Title
27160703 2016 Rho Kinase Inhibition Is Essential During In Vitro Neurogenesis and Promotes Phenotypic Rescue of Human Induced Pluripotent Stem Cell-Derived Neurons With Oligophrenin-1 Loss of Function.
25170626 2014 Oligophrenin-1 is associated with cell adhesion and migration in prostate cancer.
24637888 2014 Oligophrenin-1 (OPHN1), a gene involved in X-linked intellectual disability, undergoes RNA editing and alternative splicing during human brain development.
24105372 2014 A novel in-frame deletion affecting the BAR domain of OPHN1 in a family with intellectual disability and hippocampal alterations.
23619296 2013 Targeted phosphotyrosine profiling of glycoprotein VI signaling implicates oligophrenin-1 in platelet filopodia formation.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22238370 2012 Global gene analysis of oocytes from early stages in human folliculogenesis shows high expression of novel genes in reproduction.
21796728 2011 Insertion of 16 amino acids in the BAR domain of the oligophrenin 1 protein causes mental retardation and cerebellar hypoplasia in an Italian family.
20528889 2011 Novel intragenic deletion in OPHN1 in a family causing XLMR with cerebellar hypoplasia and distinctive facial appearance.
20479760 2011 Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia.
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