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OPHN1 oligophrenin 1 [ Homo sapiens (human) ]

Gene ID: 4983, updated on 11-Sep-2014
Official Symbol
OPHN1provided by HGNC
Official Full Name
oligophrenin 1provided by HGNC
Primary source
HGNC:HGNC:8148
Locus tag
RP6-201G10.1
See related
Ensembl:ENSG00000079482; HPRD:02130; MIM:300127; Vega:OTTHUMG00000021744
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
OPN1; MRX60; ARHGAP41
Summary
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]
See OPHN1 in Epigenomics, MapViewer
Location:
Xq12
Exon count:
26
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) X NC_000023.11 (68042344..68433647, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (67262186..67653369, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene androgen receptor Neighboring gene BMI1 polycomb ring finger oncogene pseudogene Neighboring gene phosphoglycerate kinase 1, pseudogene 1 Neighboring gene nuclear distribution protein nudE-like 1-like Neighboring gene Yip1 domain family, member 6

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance
MedGen: C1845366 OMIM: 300486 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-07-27)

ISCA Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-07-27)

ISCA Genome Curation PagePubMed
  • Regulation of RhoA activity, organism-specific biosystem (from Pathway Interaction Database)
    Regulation of RhoA activity, organism-specific biosystem
    Regulation of RhoA activity
  • Rho GTPase cycle, organism-specific biosystem (from REACTOME)
    Rho GTPase cycle, organism-specific biosystemThe cycling of Rho GTPases is tightly controlled by three classes of protein. These are (1) guanine nucleotide dissociation inhibitors or GDIs, which maintain Rho proteins in an inactive state in the...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by Rho GTPases, organism-specific biosystem (from REACTOME)
    Signaling by Rho GTPases, organism-specific biosystemThe Rho family of small guanine nucleotide binding proteins is one of five generally recognized branches of the Ras superfamily. Like most Ras superfamily members, typical Rho proteins function as bi...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
Rho GTPase activator activity IEA
Inferred from Electronic Annotation
more info
 
actin binding IEA
Inferred from Electronic Annotation
more info
 
ionotropic glutamate receptor binding IEA
Inferred from Electronic Annotation
more info
 
phospholipid binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
actin cytoskeleton organization IEA
Inferred from Electronic Annotation
more info
 
axon guidance TAS
Traceable Author Statement
more info
PubMed 
negative regulation of proteasomal protein catabolic process IEA
Inferred from Electronic Annotation
more info
 
nervous system development TAS
Traceable Author Statement
more info
PubMed 
positive regulation of Rho GTPase activity IEA
Inferred from Electronic Annotation
more info
 
regulation of endocytosis IEA
Inferred from Electronic Annotation
more info
 
regulation of small GTPase mediated signal transduction TAS
Traceable Author Statement
more info
 
regulation of synaptic transmission, glutamatergic IEA
Inferred from Electronic Annotation
more info
 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
small GTPase mediated signal transduction TAS
Traceable Author Statement
more info
 
substrate-dependent cell migration, cell extension TAS
Traceable Author Statement
more info
PubMed 
synaptic vesicle endocytosis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
actin cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
cell junction IEA
Inferred from Electronic Annotation
more info
 
cytosol TAS
Traceable Author Statement
more info
 
dendritic spine IEA
Inferred from Electronic Annotation
more info
 
terminal bouton IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
oligophrenin-1
Names
oligophrenin-1
mental retardation, X-linked 60
oligophrenin-1, Rho-GTPase activating protein

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008960.1 

    Range
    5001..396114
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_002547.2NP_002538.1  oligophrenin-1

    See proteins identical to NP_002538.1

    Status: REVIEWED

    Source sequence(s)
    AJ001189, AL157700, BP357826
    Consensus CDS
    CCDS14388.1
    UniProtKB/Swiss-Prot
    O60890
    Related
    ENSP00000347710, OTTHUMP00000023451, ENST00000355520, OTTHUMT00000057011
    Conserved Domains (3) summary
    cd07633
    Location:19225
    Blast Score: 1102
    BAR_OPHN1; The Bin/Amphiphysin/Rvs (BAR) domain of Oligophrenin-1
    cd04374
    Location:363559
    Blast Score: 996
    RhoGAP_Graf; RhoGAP_Graf: GTPase-activator protein (GAP) domain for Rho-like GTPases found in GRAF (GTPase regulator associated with focal adhesion kinase); Graf is a multi-domain protein, containing SH3 and PH domains, that binds focal adhesion kinase and influences ...
    cd01249
    Location:267370
    Blast Score: 473
    BAR-PH_GRAF_family; GTPase Regulator Associated with Focal adhesion and related proteins Pleckstrin homology (PH) domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000023.11 

    Range
    68042344..68433647
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006724652.1XP_006724715.1  

    See proteins identical to XP_006724715.1

    UniProtKB/Swiss-Prot
    O60890
    Conserved Domains (3) summary
    cd07633
    Location:19225
    Blast Score: 1102
    BAR_OPHN1; The Bin/Amphiphysin/Rvs (BAR) domain of Oligophrenin-1
    cd04374
    Location:363559
    Blast Score: 996
    RhoGAP_Graf; RhoGAP_Graf: GTPase-activator protein (GAP) domain for Rho-like GTPases found in GRAF (GTPase regulator associated with focal adhesion kinase); Graf is a multi-domain protein, containing SH3 and PH domains, that binds focal adhesion kinase and influences ...
    cd01249
    Location:267370
    Blast Score: 473
    BAR-PH_GRAF_family; GTPase Regulator Associated with Focal adhesion and related proteins Pleckstrin homology (PH) domain
  2. XM_005262270.1XP_005262327.1  

    See proteins identical to XP_005262327.1

    UniProtKB/TrEMBL
    F5H2E3
    Conserved Domains (3) summary
    cd07633
    Location:19225
    Blast Score: 1075
    BAR_OPHN1; The Bin/Amphiphysin/Rvs (BAR) domain of Oligophrenin-1
    cd04374
    Location:363559
    Blast Score: 988
    RhoGAP_Graf; RhoGAP_Graf: GTPase-activator protein (GAP) domain for Rho-like GTPases found in GRAF (GTPase regulator associated with focal adhesion kinase); Graf is a multi-domain protein, containing SH3 and PH domains, that binds focal adhesion kinase and influences ...
    cd01249
    Location:267370
    Blast Score: 468
    BAR-PH_GRAF_family; GTPase Regulator Associated with Focal adhesion and related proteins Pleckstrin homology (PH) domain
  3. XM_006724653.1XP_006724716.1  

    Conserved Domains (3) summary
    cd07633
    Location:19225
    Blast Score: 1102
    BAR_OPHN1; The Bin/Amphiphysin/Rvs (BAR) domain of Oligophrenin-1
    cd04374
    Location:363559
    Blast Score: 994
    RhoGAP_Graf; RhoGAP_Graf: GTPase-activator protein (GAP) domain for Rho-like GTPases found in GRAF (GTPase regulator associated with focal adhesion kinase); Graf is a multi-domain protein, containing SH3 and PH domains, that binds focal adhesion kinase and influences ...
    cd01249
    Location:267370
    Blast Score: 472
    BAR-PH_GRAF_family; GTPase Regulator Associated with Focal adhesion and related proteins Pleckstrin homology (PH) domain

Alternate HuRef

Genomic

  1. AC_000155.1 

    Range
    61092466..61481527
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018934.2 

    Range
    67154622..67546029
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)