• Gene id: 4983

Gene Summary

• Gene Symbol: OPHN1   Gene   UCSC   Ensembl
• Aliases: ARHGAP41, MRX60, OPN1
• Gene name: oligophrenin 1
• Alternate names: oligophrenin-1, mental retardation, X-linked 60, oligophrenin-1, Rho-GTPase activating protein,
• Gene location: Xq12 (68433840: 68042343)     Exons: 27     NC_000023.11
• Gene summary(Entrez): 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
• OMIM: 613198

Protein Summary

• Protein general information: O60890  
  • Name: Oligophrenin 1
  • Length: 802  
  • Mass: 91641
  • Tissue specificity: Expressed in brain.
• Sequence:

  MGHPPLEFSDCYLDSPDFRERLKCYEQELERTNKFIKDVIKDGNALISAMRNYSSAVQKFSQTLQSFQFDFIGDT
  LTDDEINIAESFKEFAELLNEVENERMMMVHNASDLLIKPLENFRKEQIGFTKERKKKFEKDGERFYSLLDRHLH
  LSSKKKESQLQEADLQVDKERHNFFESSLDYVYQIQEVQESKKFNIVEPVLAFLHSLFISNSLTVELTQDFLPYK
  QQLQLSLQNTRNHFSSTREEMEELKKRMKEAPQTCKLPGQPTIEGYLYTQEKWALGISWVKYYCQYEKETKTLTM
  TPMEQKPGAKQGPLDLTLKYCVRRKTESIDKRFCFDIETNERPGTITLQALSEANRRLWMEAMDGKEPIYHSPIT
  KQQEMELNEVGFKFVRKCINIIETKGIKTEGLYRTVGSNIQVQKLLNAFFDPKCPGDVDFHNSDWDIKTITSSLK
  FYLRNLSEPVMTYRLHKELVSAAKSDNLDYRLGAIHSLVYKLPEKNREMLELLIRHLVNVCEHSKENLMTPSNMG
  VIFGPTLMRAQEDTVAAMMNIKFQNIVVEILIEHFGKIYLGPPEESAAPPVPPPRVTARRHKPITISKRLLRERT
  VFYTSSLDESEDEIQHQTPNGTITSSIEPPKPPQHPKLPIQRSGETDPGRKSPSRPILDGKLEPCPEVDVGKLVS
  RLQDGGTKITPKATNGPMPGSGPTKTPSFHIKRPAPRPLAHHKEGDADSFSKVRPPGEKPTIIRPPVRPPDPPCR
  AATPQKPEPKPDIVAGNAGEITSSVVASRTRFFETASRKTGSSQGRLPGDES

• Structural information:
  • Protein Domains: (265..36-)
    (/note="PH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145-)
    (380..56-)
    (/note="Rho-GAP-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00172"-)
  • Interpro: IPR027267  IPR011993  IPR001849  IPR008936  IPR000198  
  • Prosite: PS50003 PS50238
  • STRING: ENSP00000347710
• Other Databases: GeneCards:  OPHN1  Malacards:  OPHN1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0035023	regulation of Rho protein signal transduction	IMP	biological process
GO:0031175	neuron projection development	IMP	biological process
GO:0048667	cell morphogenesis involved in neuron differentiation	IMP	biological process
GO:0021707	cerebellar granule cell differentiation	IMP	biological process
GO:0021895	cerebral cortex neuron differentiation	IMP	biological process
GO:0030182	neuron differentiation	IMP	biological process
GO:0043195	terminal bouton	IBA	cellular component
GO:0030036	actin cytoskeleton organization	IBA	biological process
GO:0015629	actin cytoskeleton	IBA	cellular component
GO:1901799	negative regulation of proteasomal protein catabolic process	IBA	biological process
GO:0051966	regulation of synaptic transmission, glutamatergic	IBA	biological process
GO:0048488	synaptic vesicle endocytosis	IBA	biological process
GO:0043197	dendritic spine	IBA	cellular component
GO:0030100	regulation of endocytosis	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0005096	GTPase activator activity	IBA	molecular function
GO:0034329	cell junction assembly	IMP	biological process
GO:0045198	establishment of epithelial cell apical/basal polarity	IMP	biological process
GO:0007165	signal transduction	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0007399	nervous system development	IEA	biological process
GO:0045202	synapse	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006897	endocytosis	IEA	biological process
GO:0005096	GTPase activator activity	TAS	molecular function
GO:0006930	substrate-dependent cell migration, cell extension	TAS	biological process
GO:0007399	nervous system development	TAS	biological process
GO:0007411	axon guidance	TAS	biological process
GO:0007165	signal transduction	TAS	biological process
GO:0005543	phospholipid binding	IDA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0051056	regulation of small GTPase mediated signal transduction	TAS	biological process
GO:0003779	actin binding	IEA	molecular function
GO:0015629	actin cytoskeleton	IEA	cellular component
GO:0030036	actin cytoskeleton organization	IEA	biological process
GO:0030425	dendrite	IEA	cellular component
GO:0043195	terminal bouton	IEA	cellular component
GO:0035255	ionotropic glutamate receptor binding	IEA	molecular function
GO:0098880	maintenance of postsynaptic specialization structure	IEA	biological process
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0030100	regulation of endocytosis	IEA	biological process
GO:0043197	dendritic spine	IEA	cellular component
GO:0048488	synaptic vesicle endocytosis	IEA	biological process
GO:0051966	regulation of synaptic transmission, glutamatergic	IEA	biological process
GO:1901799	negative regulation of proteasomal protein catabolic process	IEA	biological process
GO:0043197	dendritic spine	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0098793	presynapse	IEA	cellular component
GO:0098794	postsynapse	IEA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0030424	axon	IEA	cellular component
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0099149	regulation of postsynaptic neurotransmitter receptor internalization	IMP	biological process
GO:0099149	regulation of postsynaptic neurotransmitter receptor internalization	EXP	biological process
GO:0099149	regulation of postsynaptic neurotransmitter receptor internalization	IDA	biological process
GO:0099149	regulation of postsynaptic neurotransmitter receptor internalization	IMP	biological process
GO:0099149	regulation of postsynaptic neurotransmitter receptor internalization	IDA	biological process
GO:0099149	regulation of postsynaptic neurotransmitter receptor internalization	IDA	biological process
GO:0098978	glutamatergic synapse	IMP	cellular component
GO:0098978	glutamatergic synapse	EXP	cellular component
GO:0098978	glutamatergic synapse	IDA	cellular component
GO:0098978	glutamatergic synapse	IMP	cellular component
GO:0098978	glutamatergic synapse	IDA	cellular component
GO:0098978	glutamatergic synapse	IDA	cellular component

Diseases

Associated diseases	References
Syndromic X-linked mental retardation	KEGG:H00658
Syndromic X-linked mental retardation	KEGG:H00658
X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance	PMID:16158428
X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance	PMID:24105372
X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance	PMID:18261018
X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance	PMID:12807966
X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance	PMID:20528889
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881