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OPHN1 (oligophrenin 1)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4983
Gene nameGene Name - the full gene name approved by the HGNC.
Oligophrenin 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
OPHN1
SynonymsGene synonyms aliases
ARHGAP41, MRX60, MRXSBL, OPN1
ChromosomeChromosome number
X
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xq12
SummarySummary of gene provided in NCBI Entrez Gene.
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
SNPsSNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs137854493 G>A Pathogenic Coding sequence variant, stop gained
rs143713841 G>T Conflicting-interpretations-of-pathogenicity, benign, benign-likely-benign Coding sequence variant, intron variant, missense variant, genic downstream transcript variant
rs368803937 G>A Conflicting-interpretations-of-pathogenicity, benign Synonymous variant, coding sequence variant, genic downstream transcript variant
rs369382527 A>C,G Conflicting-interpretations-of-pathogenicity, uncertain-significance Intron variant
rs587784234 G>A Pathogenic Stop gained, coding sequence variant
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT571129 hsa-miR-3662 HITS-CLIP 24906430
MIRT571128 hsa-miR-8084 HITS-CLIP 24906430
MIRT608591 hsa-miR-7153-3p HITS-CLIP 24906430
MIRT571127 hsa-miR-1272 HITS-CLIP 24906430
MIRT608590 hsa-miR-4789-5p HITS-CLIP 24906430
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003779 Function Actin binding IEA
GO:0005096 Function GTPase activator activity IBA 21873635
GO:0005543 Function Phospholipid binding IDA 18954304
GO:0005737 Component Cytoplasm IBA 21873635
GO:0005829 Component Cytosol TAS
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID O60890
Protein name Oligophrenin-1
Protein 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. Critical for the stabilization of AMPA receptors
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16746 BAR_3
6 249
Domain
PF00169 PH
266 365
PH domain
Domain
PF00620 RhoGAP
388 541
RhoGAP domain
Domain
Sequence
MGHPPLEFSDCYLDSPDFRERLKCYEQELERTNKFIKDVIKDGNALISAMRNYSSAVQKF
SQTLQSFQFDFIGDTLTDDEINIAESFKEFAELLNEVENERMMMVHNASDLLIKPLENFR
KEQIGFTKERKKKFEKDGERFYSLLDRHLHLSSKKKESQLQEADLQVDKERHNFFESSLD
YVYQIQEVQESKKFNIVEPVLAFLHSLFISNSLTVELTQDFLPYKQQLQLSLQNTRNHFS
STREEMEEL
KKRMKEAPQTCKLPGQPTIEGYLYTQEKWALGISWVKYYCQYEKETKTLTM
TPMEQKPGAKQGPLDLTLKYCVRRKTESIDKRFCFDIETNERPGTITLQALSEANRRLWM
EAMDG
KEPIYHSPITKQQEMELNEVGFKFVRKCINIIETKGIKTEGLYRTVGSNIQVQKL
LNAFFDPKCPGDVDFHNSDWDIKTITSSLKFYLRNLSEPVMTYRLHKELVSAAKSDNLDY
RLGAIHSLVYKLPEKNREMLELLIRHLVNVCEHSKENLMTPSNMGVIFGPTLMRAQEDTV
A
AMMNIKFQNIVVEILIEHFGKIYLGPPEESAAPPVPPPRVTARRHKPITISKRLLRERT
VFYTSSLDESEDEIQHQTPNGTITSSIEPPKPPQHPKLPIQRSGETDPGRKSPSRPILDG
KLEPCPEVDVGKLVSRLQDGGTKITPKATNGPMPGSGPTKTPSFHIKRPAPRPLAHHKEG
DADSFSKVRPPGEKPTIIRPPVRPPDPPCRAATPQKPEPKPDIVAGNAGEITSSVVASRT
RFFETASRKTGSSQGRLPGDES
Sequence length 802
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
Reactome
    Rho GTPase cycle
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Attention deficit hyperactivity disorder Attention deficit hyperactivity disorder rs120074176, rs786205019
Autism Autistic Disorder rs121964908, rs121912597, rs2710102, rs7794745, rs142990298, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542, rs1751123722, rs1750373491, rs1751075634
Cryptorchidism Cryptorchidism rs121912555, rs104894697, rs104894698, rs398122886
Developmental delay Global developmental delay, Gross motor development delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Unknown
Disease name Disease term dbSNP ID References
Alopecia Alopecia 28196072
Alopecia, male pattern Alopecia, Male Pattern 29146897, 22693459
Androgenetic alopecia Androgenetic Alopecia, Alopecia, Androgenetic, 3, Alopecia, Androgenetic, 2, Alopecia, Androgenetic, 1 29146897
Cerebellar hypoplasia Cerebellar Hypoplasia

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