Protein detail
OPHN1
Oligophrenin-1
Protein symbol OPHN1 | UniProt ID | EVMP score 0.38 |
Frequency 1 | Transmembrane count | Protein classification Disease related genesHuman disease related genesPlasma proteinsPredicted intracellular proteins |
EVMP score: annotation confidence score.
Extremely high >= 0.85High >= 0.70Medium >= 0.55Low >= 0.40
Basic Information
Protein Names
Oligophrenin-1
Protein Class
Disease related genesHuman disease related genesPlasma proteinsPredicted intracellular proteins
Protein Function
- Disease related genes
- Human disease related genes:Other diseases:Mental and behavioural disorders
- Predicted intracellular proteins
Ensembl
Entrez Gene Symbol
Gene Synonym
ARHGAP41MRX60OPN1
Gene Description
Oligophrenin 1
Chromosome
X
Position
67949349-68433913
Frequency
1
EVMP Score
0.38
Fluorescence & Localization
Tissue SpecificbrainCell SpecificBrain inhibitory neuronsSingle-Nuclei Brain Specificmedium spiny neuron
Function & Pathway
Protein Function
- Disease related genes
- Human disease related genes:Other diseases:Mental and behavioural disorders
- Predicted intracellular proteins
Cellular Component
Molecular Function
Biological Process
Reactome
- R-hsa-9013148 cdc42 gtpase cycle
- R-hsa-9013149 rac1 gtpase cycle
- R-hsa-9013404 rac2 gtpase cycle
- R-hsa-9013423 rac3 gtpase cycle
- R-hsa-8980692 rhoa gtpase cycle
- R-hsa-9013026 rhob gtpase cycle
- R-hsa-9013106 rhoc gtpase cycle
- R-hsa-9013408 rhog gtpase cycle
- R-hsa-9013409 rhoj gtpase cycle
- R-hsa-9013406 rhoq gtpase cycle
- R-hsa-9012999 rho gtpase cycle
- R-hsa-9716542 signaling by rho gtpases miro gtpases and rhobtb3
Mediation Categories
Adhesion and uptake mediationFusion and delivery mediationReceptor-signaling mediation
Relations & Evidence
Enzyme-Mediated Modification
0 records.
Ligand-Receptor Signaling
5 records.
| Category | Parent | Database | Transmitter | Receiver | Secreted | Plasma Membrane (Transmembrane) | Plasma Membrane (Peripheral) |
|---|---|---|---|---|---|---|---|
| intracellular | intracellular | LOCATE | No | No | No | No | No |
| intracellular | intracellular | ComPPI | No | No | No | No | No |
| intracellular | intracellular | GO_Intercell | No | No | No | No | No |
| intracellular | intracellular | UniProt_location | No | No | No | No | No |
| intracellular | intracellular | OmniPath | No | No | No | No | No |
Regulatory Interaction Network
4 records.
| Source Protein Symbol | Source UniProt ID | Target Protein Symbol | Target UniProt ID | Is Directed | Is Stimulation | Is Inhibition | Database | References |
|---|---|---|---|---|---|---|---|---|
| OPHN1 | O60890 | RHOA | P61586 | Yes | Yes | Yes | HPRDWangSIGNOR | HPRD:11998687HPRD:9582072SIGNOR:12932438 |
| OPHN1 | O60890 | CDC42 | P60953 | Yes | Yes | No | HPRDSIGNORBioGRID | HPRD:11998687HPRD:9582072BioGRID:9582072SIGNOR:12932438 |
| NR1D1 | P20393 | OPHN1 | O60890 | Yes | Yes | No | SIGNOR | SIGNOR:35267019 |
| OPHN1 | O60890 | RAC1 | P63000 | Yes | Yes | No | HPRDSIGNOR | HPRD:11998687HPRD:9582072SIGNOR:12932438 |
Protein Complex Composition
2 records.
| Component Name | Component Gene Symbols | Component UniProt ID | Stoichiometry | Database | Database IDs | References |
|---|---|---|---|---|---|---|
| ARHGAP10ARHGAP26OPHN1 | A1A4S6O60890Q9UNA1 | 0:0:0 | hu.MAP2 | |||
| ARHGAP27ARHGAP31CDC42NCF1OPHN1PAK5PLEKHG2RAC1TBC1D3F | A6NER0O60890P14598P60953P63000Q2M1Z3Q6ZUM4Q9H7P9Q9P286 | 1:1:1:1:1:1:1:1:1 | NetworkBlastCompleat | Compleat:HC6350 |
Sequence, Structure & Domains
Sequences
Length
802
Mass
91,641
Sequence
MGHPPLEFSDCYLDSPDFRERLKCYEQELERTNKFIKDVIKDGNALISAMRNYSSAVQKFSQTLQSFQFDFIGDTLTDDEINIAESFKEFAELLNEVENERMMMVHNASDLLIKPLENFRKEQIGFTKERKKKFEKDGERFYSLLDRHLHLSSKKKESQLQEADLQVDKERHNFFESSLDYVYQIQEVQESKKFNIVEPVLAFLHSLFISNSLTVELTQDFLPYKQQLQLSLQNTRNHFSSTREEMEELKKRMKEAPQTCKLPGQPTIEGYLYTQEKWALGISWVKYYCQYEKETKTLTMTPMEQKPGAKQGPLDLTLKYCVRRKTESIDKRFCFDIETNERPGTITLQALSEANRRLWMEAMDGKEPIYHSPITKQQEMELNEVGFKFVRKCINIIETKGIKTEGLYRTVGSNIQVQKLLNAFFDPKCPGDVDFHNSDWDIKTITSSLKFYLRNLSEPVMTYRLHKELVSAAKSDNLDYRLGAIHSLVYKLPEKNREMLELLIRHLVNVCEHSKENLMTPSNMGVIFGPTLMRAQEDTVAAMMNIKFQNIVVEILIEHFGKIYLGPPEESAAPPVPPPRVTARRHKPITISKRLLRERTVFYTSSLDESEDEIQHQTPNGTITSSIEPPKPPQHPKLPIQRSGETDPGRKSPSRPILDGKLEPCPEVDVGKLVSRLQDGGTKITPKATNGPMPGSGPTKTPSFHIKRPAPRPLAHHKEGDADSFSKVRPPGEKPTIIRPPVRPPDPPCRAATPQKPEPKPDIVAGNAGEITSSVVASRTRFFETASRKTGSSQGRLPGDES
Alternative Products
Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O60890-1; Sequence=Displayed; Name=2; IsoId=O60890-2; Sequence=VSP_055336, VSP_055337
Alternative Sequence
278..311; WALGISWVKYYCQYEKETKTLTMTPMEQKPGAKQ -> CVWGHRGIHWVSISQELLPLVGCEFWAPLLFIDP (in isoform 2); 312..802; Missing (in isoform 2)
3D Structural Models
Domain & Motif Annotations
Compositional Bias
616..627; Polar residues; 716..732; Basic and acidic residues
Domain (FT)
265..368; PH; 380..564; Rho-GAP
Region
569..588; Disordered; 607..666; Disordered; 680..770; Disordered; 783..802; Disordered
Clinical Relevance
Disease Involvement
Disease variantIntellectual disability
Antibody