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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

OPHN1 Gene

protein-coding   GIFtS: 59
GCID: GC0XM067262

oligophrenin 1

(Previous names: mental retardation, X-linked 60 )
(Previous symbol: MRX60)
 Explore 14 diseases affiliated with
OPHN1 via our new
 Human Malady Compendium 
Biological research products
for OPHN1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Oligophrenin 11 2     Mental Retardation, X-Linked 601 2
MRX601 2 5     Oligophrenin-11
ARHGAP411 2     Oligophrenin-1, Rho-GTPase Activating Protein2
OPN11 2     

External Ids:    HGNC: 81481   Entrez Gene: 49832   Ensembl: ENSG000000794827   OMIM: 3001275   UniProtKB: O608903   

Export aliases for OPHN1 gene to outside databases

Previous GC identifers: GC0XM063483 GC0XM064728 GC0XM065495 GC0XM066129 GC0XM067045 GC0XM067178 GC0XM061092


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for OPHN1:
This gene encodes a Rho-GTPase-activating protein that promotes GTP hydrolysis of Rho subfamily members. Rho proteins
are important mediators of intracellular signal transduction, which affects cell migration and cell morphogenesis.
Mutations in this gene are responsible for OPHN1-related X-linked mental retardation with cerebellar hypoplasia and
distinctive facial dysmorhphism. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: OPHN1_HUMAN, O60890
Function: Stimulates GTP hydrolysis of members of the Rho family. Its action on RHOA activity and signaling is
implicated in growth and stabilization of dendritic spines, and therefore in synaptic function (By similarity).
Critical for the stabilization of AMPA receptors at postsynaptic sites (By similarity). Critical for the regulation of
synaptic vesicle endocytosis at presynaptic terminals (By similarity)

Gene Wiki entry for OPHN1


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.1  NT_011669.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the OPHN1 gene promoter:
         GATA-3   MyoD   Lmo2   Nkx2-5   NF-AT   GATA-1   GATA-2   NF-AT2   IRF-7A   NF-AT1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidOPHN1 promoter sequence
   Search SABiosciences Chromatin IP Primers for OPHN1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat OPHN1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xq12   Ensembl cytogenetic band:  Xq12   HGNC cytogenetic band: Xq12

OPHN1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
OPHN1 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM067262:  view genomic region     (about GC identifiers)

Start:
67,262,186 bp from pter      End:
67,653,755 bp from pter
Size:
391,570 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: OPHN1_HUMAN, O60890 (See protein sequence)
Recommended Name: Oligophrenin-1  
Size: 802 amino acids; 91641 Da
Subunit: Interacts with HOMER1. Interacts with AMPA receptor complexes. Interacts with SH3GL2 (endophilin-A1) (By
similarity)
Subcellular location: Cell junction, synapse. Cell projection, axon. Cell projection, dendritic spine. Note=Present in
both presynaptic and postsynaptic sites (By similarity)
Secondary accessions: B9EIP8 Q5JQ81 Q8WX47

Explore the universe of human proteins at neXtProt for OPHN1: NX_O60890

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O60890

  • OPHN1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_002538.1  
    ENSEMBL proteins: 
     ENSP00000347710   ENSP00000438617  
    Reactome Protein details: O60890
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    Uscn Proteins for OPHN1

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005829cytosol TAS--
    GO:0015629actin cytoskeleton IEA--
    GO:0030054cell junction IEA--
    GO:0043195terminal bouton IEA--


    OPHN1 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    OPHN1 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR008936 Rho_GTPase_activation_prot
     IPR001849 Pleckstrin_homology
     IPR011993 PH_like_dom
     IPR000198 RhoGAP_dom

    Graphical View of Domain Structure for InterPro Entry O60890

    ProtoNet protein and cluster: O60890

    2 Blocks protein families:
    IPB000198 RhoGAP domain
    IPB001849 Pleckstrin-like


    UniProtKB/Swiss-Prot: OPHN1_HUMAN, O60890
    Similarity: Contains 1 PH domain
    Similarity: Contains 1 Rho-GAP domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: OPHN1_HUMAN, O60890
    Function: Stimulates GTP hydrolysis of members of the Rho family. Its action on RHOA activity and signaling is
    implicated in growth and stabilization of dendritic spines, and therefore in synaptic function (By similarity).
    Critical for the stabilization of AMPA receptors at postsynaptic sites (By similarity). Critical for the regulation of
    synaptic vesicle endocytosis at presynaptic terminals (By similarity)

    miRNA
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    hsa-miR-323-3p hsa-miR-3685 hsa-miR-513a-5p hsa-miR-128 hsa-miR-488 hsa-miR-570 hsa-miR-3658 hsa-miR-4330
    SwitchGear 3'UTR luciferase reporter plasmidOPHN1 3' UTR sequence
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    Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding IEA--
    GO:0005096GTPase activator activity ----
    GO:0005100Rho GTPase activator activity IEA--
    GO:0005515protein binding ----
    GO:0005543phospholipid binding IEA--


    OPHN1 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Ophn1tm1Bill for OPHN1
         3 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Ophn1):
     behavior/neurological  mortality/aging  nervous system 

    OPHN1 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Cell death signalling via NRAGE, NRIF and NADE
    Signaling by Rho GTPases0.25
    Rho GTPase cycle0.25
    2Neuroscience
    Neuroscience1.00
    3Regulation of RhoA activity
    Regulation of RhoA activity1.00
    4Signaling by GPCR
    Signal Transduction0.56

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for OPHN1
        Neuroscience

    1 BioSystems Pathway for OPHN1 
        Regulation of RhoA activity

    3        Reactome Pathways for OPHN1
        Signaling by Rho GTPases
    Signal Transduction
    Rho GTPase cycle



    OPHN1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for OPHN1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/38 Interacting proteins for OPHN1 (O608903 ENSP000003477104) via UniProtKB, MINT, STRING, and/or I2D (see all 38)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RHOAP615863, ENSP000004001754I2D: score=2 STRING: ENSP00000400175
    MYCP011063, ENSP000003672074I2D: score=1 STRING: ENSP00000367207
    CDC42P609533, ENSP000003144584I2D: score=2 STRING: ENSP00000314458
    RAC1P630003, ENSP000003484614I2D: score=2 STRING: ENSP00000348461
    ARHGAP4ENSP000002037864STRING: ENSP00000203786
    About this table

    Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006930substrate-dependent cell migration, cell extension TAS9582072
    GO:0007165signal transduction TAS9582072
    GO:0007264small GTPase mediated signal transduction TAS--
    GO:0007399nervous system development TAS9582072
    GO:0007411axon guidance TAS9582072


    OPHN1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for OPHN1

    1 HMDB Compound for OPHN1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--
    Search CenterWatch for drugs/clinical trials and news about OPHN1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for OPHN1 gene: 
    NM_002547.2  

    Unigene Cluster for OPHN1:

    Oligophrenin 1
    Hs.128824  [show with all ESTs]
    Unigene Representative Sequence: NM_002547
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000355520(uc004dww.4 uc011mpg.2) ENST00000484842 ENST00000467444
    ENST00000486068 ENST00000491714 ENST00000540071(uc004dwx.3 uc010nku.1)


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    hsa-miR-323-3p hsa-miR-3685 hsa-miR-513a-5p hsa-miR-128 hsa-miR-488 hsa-miR-570 hsa-miR-3658 hsa-miR-4330
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    Inhib. RNA
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    Additional cDNA sequence: 

    AB102656.1 AJ001189.1 AK130340.1 AK295769.1 AK309665.1 AK309696.1 BC059393.1 BC140763.1 

    8 DOTS entries:

    DT.115370  DT.202572  DT.100676949  DT.121309966  DT.95143726  DT.95342357  DT.100018949  DT.121309979 

    24/50 AceView cDNA sequences (see all 50):

    BX641302 CR605867 AI400949 AW572478 CB266029 CF529728 CB266700 CA390085 
    BQ011131 BU621294 BP357826 AA532382 AB102656 BP337692 CD358119 BM995047 
    AW131775 AA706097 AI866744 BQ013636 AW444450 AL697889 AL603381 BP358525 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    OPHN1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TGACTTTCAA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See OPHN1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for OPHN1

    SOURCE GeneReport for Unigene cluster: Hs.128824

    UniProtKB/Swiss-Prot: OPHN1_HUMAN, O60890
    Tissue specificity: Expressed in brain

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for OPHN1 gene from 6/19 species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves OPHN11 oligophrenin 1 74.96(n)
    83.29(a)
      422162  XM_420161.3  XP_420161.3 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    57(a)
    1 ↔ 1
    GL343465.1(375298-384749)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC688562 hypothetical protein MGC68856 75.18(n)    BC059290.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ophn16
    oligophrenin 1
    63(a)
    1 ↔ 1
    5(37300581-37361639)
    fruit fly
    (Drosophila melanogaster)
    Insecta Graf3 RAL interactor 38(a)   13E14   --
    worm
    (Caenorhabditis elegans)
    Secernentea T04C9.16
    Protein T04C9.1, isoform c
    27(a)
    1 → many
    III(5993181-6006318)


    ENSEMBL Gene Tree for OPHN1 (if available)
    TreeFam Gene Tree for OPHN1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for OPHN1 gene
    HMHA12  ARHGAP212  ARHGAP272  ARHGAP102  CHN22  ARHGAP232  ARHGAP92  ARHGAP292  
    CHN12  ARHGAP262  ARHGAP152  ARHGAP122  GMIP2  ARHGAP422  
    17 SIMAP similar genes for OPHN1 using alignment to 4 protein entries:     OPHN1_HUMAN (see all proteins):
    GRAF    ARHGAP42    CHN2-3    ARHGAP26    CHN2    ARHGAP27
    ARHGAP10    ARHGAP12    CHN1    ARHGAP21    ARHGAP24    ARHGAP31
    ARHGAP23    HMHA1    DKFZp667D142    ARHGAP5    ARHGAP9

    OPHN1 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for OPHN1
    PGOHUM00000240312 PGOHUM00000240907


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/3929 NCBI SNPs in OPHN1 are shown (see all 3929    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1832928711,2
    --67261791(+) TCTTCC/TCCATT 1 -- ds50010--------
    rs27659521,2
    C,F,A,H,--67261919(+) CTCAGC/TTCCCT 1 -- ds500117Minor allele frequency- T:0.45NS EA WA NA CSA 1982
    rs1876200421,2
    --67262136(+) CCTCAA/TTGATA 1 -- ds50010--------
    rs1906916381,2
    --67262351(+) AATGAA/CGGCTT 1 -- ut310--------
    rs1829274471,2
    --67262385(+) AAGGTA/GTCTTG 1 -- ut310--------
    rs1879873891,2
    --67262442(+) ATGCAC/GCCAAA 1 -- ut310--------
    rs78831841,2
    C,A,--67263222(+) aaaaaG/AaaaaA 1 -- ut31 trp31Minor allele frequency- A:0.00NA 2
    rs580902781,2
    C,--67263222(+) AAAAA-/GAAAAA 1 -- ut310--------
    rs1845109221,2
    C,--67263229(+) AAAAAA/GAAAGA 1 -- ut310--------
    rs78882121,2
    C,F,A,H,--67263293(+) TTTCCA/GGGCTT 1 -- ut3122Minor allele frequency- G:0.52NS EA NA WA CSA 2015

    HapMap Linkage Disequilibrium report for OPHN1 (67262186 - 67512186 bp, first 250kb of OPHN1)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 8 variations for OPHN1
         8 CNVs: 53021 9347 22600 53020 53023 3266 103255 53022
    Human Gene Mutation Database (HGMD): OPHN1

    Locus Specific Mutation Databases (LSDB): OPHN1

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    OPHN1 for disorders           About GeneDecksing

    OMIM gene information: 300127   
    OMIM disorders: 300486  
    UniProtKB/Swiss-Prot: OPHN1_HUMAN, O60890
  • Defects in OPHN1 are the cause of mental retardation X-linked OPHN1-related (MRXSO) [MIM:300486]; formerly
  • designated MRX60. MRXSO is a syndromic mental retardation. Patients present mental retardation associated with
    cerebellar hypoplasia and distinctive facial dysmorphism

    14 diseases for OPHN1:    About MalaCards
    mental retardation, x-linked    cerebellar hypoplasia    x-linked mental retardation with epilepsy    mental retardation epilepsy
    autism spectrum disorder    strabismus    craniofrontonasal syndrome    intellectual disability
    spasticity    seizures    gastric cancer    ataxia
    cerebritis    schizophrenia

    1 disease from the University of Copenhagen DISEASES database for OPHN1:
    Intellectual disability

    5 Novoseek disease relationships for OPHN1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cerebellar hypoplasia 89.2 8 16221952 (2), 16506132 (1), 18512229 (1), 12805098 (1) (see all 6)
    mental retardation 85.7 37 16221952 (4), 10818214 (3), 16158428 (2), 18930891 (2) (see all 23)
    strabismus 43.7 1 18512229 (1)
    epilepsy 11.3 4 12805098 (2)
    tumors 0 1 11172594 (1)

    Genetic Association Database (GAD): OPHN1
    Human Genome Epidemiology (HuGE) Navigator: OPHN1 (3 documents)

    Export disorders for OPHN1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for OPHN1 gene, integrated from 9 sources (see all 56):
    (articles sorted by number of sources associating them with OPHN1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation. (PubMed id 9582072)1, 2, 3, 9 Billuart P....Chelly J. (1998)
    2. Determination of the gene structure of human oligophrenin-1 and identification of three novel polymorphisms by screening of DNA from 164 patients with non-specific X-linked mental retardation. (PubMed id 10818214)1, 2, 9 Billuart P.... Bienvenu T. (2000)
    3. Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia. (PubMed id 16221952)1, 4, 9 Zanni G....Chelly J. (2005)
    4. Deletion including the oligophrenin-1 gene associated with enlarged cerebral ventricles, cerebellar hypoplasia, seizures and ataxia. (PubMed id 10439959)1, 2, 9 Tentler D.... Dahl N. (1999)
    5. Insertion of 16 amino acids in the BAR domain of the oligophrenin 1 protein causes mental retardation and cerebellar hypoplasia in an Italian family. (PubMed id 21796728)1, 2 Pirozzi F.... Chiurazzi P. (2011)
    6. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (2005)
    7. Gene diversity patterns at 10 X-chromosomal loci in humans and chimpanzees. (PubMed id 12777533)1, 2 Kitano T.... Paeaebo S. (2003)
    8. Mapping of the X-breakpoint involved in a balanced X;12 translocation in a female with mild mental retardation. (PubMed id 9195162)1, 3 Bienvenu T....Cherif D. (1997)
    9. Oligophrenin 1 (OPHN1) gene mutation causes syndromic X-linked mental retardation with epilepsy, rostral ventricular enlargement and cerebellar hypoplasia. (PubMed id 12805098)1, 9 Bergmann C....Ramaekers V.T. (2003)
    10. Evidence that a major site of expression of the RHO-GTPASE activating protein, oligophrenin-1, is peripheral myelin. (PubMed id 15026118)1, 9 Xiao J....Furness J.B. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 4983 HGNC: 8148 AceView: OPHN1 Ensembl:ENSG00000079482 euGenes: HUgn4983
    ECgene: OPHN1 H-InvDB: OPHN1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for OPHN1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/OPHN1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for OPHN1 gene:
    Search GeneIP for patents involving OPHN1

    GeneCards and IP:
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