UniProtKB - O60890 (OPHN1_HUMAN)
Protein
Oligophrenin-1
Gene
OPHN1
Organism
Homo sapiens (Human)
Status
Functioni
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 at postsynaptic sites. Critical for the regulation of synaptic vesicle endocytosis at presynaptic terminals. Required for the localization of NR1D1 to dendrites, can suppress its repressor activity and protect it from proteasomal degradation (By similarity).By similarity
GO - Molecular functioni
- actin binding Source: Ensembl
- GTPase activator activity Source: GO_Central
- ionotropic glutamate receptor binding Source: Ensembl
- phospholipid binding Source: FlyBase
GO - Biological processi
- actin cytoskeleton organization Source: GO_Central
- axon guidance Source: ProtInc
- cell junction assembly Source: UniProtKB
- cell morphogenesis involved in neuron differentiation Source: ARUK-UCL
- cerebellar granule cell differentiation Source: ARUK-UCL
- cerebral cortex neuron differentiation Source: ARUK-UCL
- establishment of epithelial cell apical/basal polarity Source: UniProtKB
- maintenance of postsynaptic specialization structure Source: Ensembl
- negative regulation of proteasomal protein catabolic process Source: GO_Central
- nervous system development Source: ProtInc
- neuron differentiation Source: ARUK-UCL
- neuron projection development Source: ARUK-UCL
- regulation of endocytosis Source: GO_Central
- regulation of postsynaptic neurotransmitter receptor internalization Source: SynGO
- regulation of Rho protein signal transduction Source: ARUK-UCL
- regulation of small GTPase mediated signal transduction Source: Reactome
- regulation of synaptic transmission, glutamatergic Source: GO_Central
- signal transduction Source: ProtInc
- substrate-dependent cell migration, cell extension Source: ProtInc
- synaptic vesicle endocytosis Source: GO_Central
Keywordsi
Molecular function | GTPase activation |
Biological process | Endocytosis, Neurogenesis |
Enzyme and pathway databases
Reactomei | R-HSA-194840 Rho GTPase cycle |
Names & Taxonomyi
Protein namesi | Recommended name: Oligophrenin-1 |
Gene namesi | Name:OPHN1 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000079482.12 |
HGNCi | HGNC:8148 OPHN1 |
MIMi | 300127 gene |
neXtProti | NX_O60890 |
Subcellular locationi
Other locations
- synapse
- axon
- dendritic spine
- dendrite By similarity
- Cytoplasm By similarity
Note: Present in both presynaptic and postsynaptic sites.By similarity
Cytoskeleton
- actin cytoskeleton Source: GO_Central
Cytosol
- cytosol Source: Reactome
Other locations
- cell junction Source: UniProtKB-KW
- cytoplasm Source: GO_Central
- dendritic spine Source: GO_Central
- glutamatergic synapse Source: SynGO
- terminal bouton Source: GO_Central
Keywords - Cellular componenti
Cell junction, Cell projection, Cytoplasm, SynapsePathology & Biotechi
Involvement in diseasei
Mental retardation, X-linked, syndromic, OPHN1-related (MRXSO)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXSO patients manifest mental retardation associated with cerebellar hypoplasia and distinctive facial dysmorphism.
See also OMIM:300486Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_066746 | 199 | P → PEFSLLMNGLKIFIKCL in MRXSO. 1 Publication | 1 |
Keywords - Diseasei
Disease mutation, Mental retardationOrganism-specific databases
DisGeNETi | 4983 |
MalaCardsi | OPHN1 |
MIMi | 300486 phenotype |
OpenTargetsi | ENSG00000079482 |
Orphaneti | 137831 X-linked intellectual disability-cerebellar hypoplasia syndrome |
PharmGKBi | PA31934 |
Polymorphism and mutation databases
BioMutai | OPHN1 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000056760 | 1 – 802 | Oligophrenin-1Add BLAST | 802 |
Proteomic databases
EPDi | O60890 |
jPOSTi | O60890 |
MaxQBi | O60890 |
PaxDbi | O60890 |
PeptideAtlasi | O60890 |
PRIDEi | O60890 |
ProteomicsDBi | 49656 |
PTM databases
iPTMneti | O60890 |
PhosphoSitePlusi | O60890 |
SwissPalmi | O60890 |
Expressioni
Tissue specificityi
Expressed in brain.
Gene expression databases
Bgeei | ENSG00000079482 Expressed in 96 organ(s), highest expression level in corpus callosum |
Organism-specific databases
HPAi | HPA002919 |
Interactioni
Subunit structurei
Interacts with HOMER1. Interacts with AMPA receptor complexes. Interacts with SH3GL2 (endophilin-A1) (By similarity). Interacts (via C-terminus) with NR1D1 (By similarity).By similarity
GO - Molecular functioni
- actin binding Source: Ensembl
- ionotropic glutamate receptor binding Source: Ensembl
Protein-protein interaction databases
BioGridi | 111029, 6 interactors |
IntActi | O60890, 1 interactor |
STRINGi | 9606.ENSP00000347710 |
Structurei
3D structure databases
ProteinModelPortali | O60890 |
SMRi | O60890 |
ModBasei | Search... |
MobiDBi | Search... |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 265 – 368 | PHPROSITE-ProRule annotationAdd BLAST | 104 | |
Domaini | 380 – 564 | Rho-GAPPROSITE-ProRule annotationAdd BLAST | 185 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 629 – 761 | Pro-richAdd BLAST | 133 |
Phylogenomic databases
eggNOGi | KOG1451 Eukaryota ENOG410YJPS LUCA |
GeneTreei | ENSGT00940000160157 |
HOGENOMi | HOG000018767 |
HOVERGENi | HBG067993 |
InParanoidi | O60890 |
KOi | K20650 |
OMAi | VRKCINA |
OrthoDBi | 693048at2759 |
PhylomeDBi | O60890 |
TreeFami | TF316851 |
Family and domain databases
Gene3Di | 1.10.555.10, 1 hit 1.20.1270.60, 1 hit 2.30.29.30, 1 hit |
InterProi | View protein in InterPro IPR027267 AH/BAR_dom_sf IPR011993 PH-like_dom_sf IPR001849 PH_domain IPR008936 Rho_GTPase_activation_prot IPR000198 RhoGAP_dom |
Pfami | View protein in Pfam PF00169 PH, 1 hit PF00620 RhoGAP, 1 hit |
SMARTi | View protein in SMART SM00233 PH, 1 hit SM00324 RhoGAP, 1 hit |
SUPFAMi | SSF103657 SSF103657, 1 hit SSF48350 SSF48350, 1 hit |
PROSITEi | View protein in PROSITE PS50003 PH_DOMAIN, 1 hit PS50238 RHOGAP, 1 hit |
s (2)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketIsoform 1 (identifier: O60890-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
10 20 30 40 50
MGHPPLEFSD CYLDSPDFRE RLKCYEQELE RTNKFIKDVI KDGNALISAM
60 70 80 90 100
RNYSSAVQKF SQTLQSFQFD FIGDTLTDDE INIAESFKEF AELLNEVENE
110 120 130 140 150
RMMMVHNASD LLIKPLENFR KEQIGFTKER KKKFEKDGER FYSLLDRHLH
160 170 180 190 200
LSSKKKESQL QEADLQVDKE RHNFFESSLD YVYQIQEVQE SKKFNIVEPV
210 220 230 240 250
LAFLHSLFIS NSLTVELTQD FLPYKQQLQL SLQNTRNHFS STREEMEELK
260 270 280 290 300
KRMKEAPQTC KLPGQPTIEG YLYTQEKWAL GISWVKYYCQ YEKETKTLTM
310 320 330 340 350
TPMEQKPGAK QGPLDLTLKY CVRRKTESID KRFCFDIETN ERPGTITLQA
360 370 380 390 400
LSEANRRLWM EAMDGKEPIY HSPITKQQEM ELNEVGFKFV RKCINIIETK
410 420 430 440 450
GIKTEGLYRT VGSNIQVQKL LNAFFDPKCP GDVDFHNSDW DIKTITSSLK
460 470 480 490 500
FYLRNLSEPV MTYRLHKELV SAAKSDNLDY RLGAIHSLVY KLPEKNREML
510 520 530 540 550
ELLIRHLVNV CEHSKENLMT PSNMGVIFGP TLMRAQEDTV AAMMNIKFQN
560 570 580 590 600
IVVEILIEHF GKIYLGPPEE SAAPPVPPPR VTARRHKPIT ISKRLLRERT
610 620 630 640 650
VFYTSSLDES EDEIQHQTPN GTITSSIEPP KPPQHPKLPI QRSGETDPGR
660 670 680 690 700
KSPSRPILDG KLEPCPEVDV GKLVSRLQDG GTKITPKATN GPMPGSGPTK
710 720 730 740 750
TPSFHIKRPA PRPLAHHKEG DADSFSKVRP PGEKPTIIRP PVRPPDPPCR
760 770 780 790 800
AATPQKPEPK PDIVAGNAGE ITSSVVASRT RFFETASRKT GSSQGRLPGD
ES
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_061184 | 39 | V → I1 PublicationCorresponds to variant dbSNP:rs41303733EnsemblClinVar. | 1 | |
Natural variantiVAR_013638 | 45 | A → T1 PublicationCorresponds to variant dbSNP:rs148262378EnsemblClinVar. | 1 | |
Natural variantiVAR_066746 | 199 | P → PEFSLLMNGLKIFIKCL in MRXSO. 1 Publication | 1 | |
Natural variantiVAR_013639 | 301 | T → M1 PublicationCorresponds to variant dbSNP:rs138108344EnsemblClinVar. | 1 | |
Natural variantiVAR_033452 | 693 | M → I. Corresponds to variant dbSNP:rs36095561EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_055336 | 278 – 311 | WALGI…PGAKQ → CVWGHRGIHWVSISQELLPL VGCEFWAPLLFIDP in isoform 2. 1 PublicationAdd BLAST | 34 | |
Alternative sequenceiVSP_055337 | 312 – 802 | Missing in isoform 2. 1 PublicationAdd BLAST | 491 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AJ001189 mRNA Translation: CAA04579.1 AJ248245 AJ248267 Genomic DNA Translation: CAB96181.1 AB102656 mRNA Translation: BAC81125.1 AL157700 Z82203 Genomic DNA Translation: CAD18899.2 AL158201 Z82203 Genomic DNA Translation: CAI40982.1 AL672138 Z82203 Genomic DNA Translation: CAI41508.1 Z82203 AL672138 Genomic DNA Translation: CAI42695.1 BC059393 mRNA Translation: AAH59393.1 BC140763 mRNA Translation: AAI40764.1 |
CCDSi | CCDS14388.1 [O60890-1] |
PIRi | H59434 |
RefSeqi | NP_002538.1, NM_002547.2 [O60890-1] XP_011529263.1, XM_011530961.1 [O60890-1] |
UniGenei | Hs.128824 |
Genome annotation databases
Ensembli | ENST00000355520; ENSP00000347710; ENSG00000079482 [O60890-1] |
GeneIDi | 4983 |
KEGGi | hsa:4983 |
UCSCi | uc004dww.5 human [O60890-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AJ001189 mRNA Translation: CAA04579.1 AJ248245 AJ248267 Genomic DNA Translation: CAB96181.1 AB102656 mRNA Translation: BAC81125.1 AL157700 Z82203 Genomic DNA Translation: CAD18899.2 AL158201 Z82203 Genomic DNA Translation: CAI40982.1 AL672138 Z82203 Genomic DNA Translation: CAI41508.1 Z82203 AL672138 Genomic DNA Translation: CAI42695.1 BC059393 mRNA Translation: AAH59393.1 BC140763 mRNA Translation: AAI40764.1 |
CCDSi | CCDS14388.1 [O60890-1] |
PIRi | H59434 |
RefSeqi | NP_002538.1, NM_002547.2 [O60890-1] XP_011529263.1, XM_011530961.1 [O60890-1] |
UniGenei | Hs.128824 |
3D structure databases
ProteinModelPortali | O60890 |
SMRi | O60890 |
ModBasei | Search... |
MobiDBi | Search... |
Protein-protein interaction databases
BioGridi | 111029, 6 interactors |
IntActi | O60890, 1 interactor |
STRINGi | 9606.ENSP00000347710 |
PTM databases
iPTMneti | O60890 |
PhosphoSitePlusi | O60890 |
SwissPalmi | O60890 |
Polymorphism and mutation databases
BioMutai | OPHN1 |
Proteomic databases
EPDi | O60890 |
jPOSTi | O60890 |
MaxQBi | O60890 |
PaxDbi | O60890 |
PeptideAtlasi | O60890 |
PRIDEi | O60890 |
ProteomicsDBi | 49656 |
Protocols and materials databases
DNASUi | 4983 |
Structural Biology Knowledgebase | Search... |
Genome annotation databases
Ensembli | ENST00000355520; ENSP00000347710; ENSG00000079482 [O60890-1] |
GeneIDi | 4983 |
KEGGi | hsa:4983 |
UCSCi | uc004dww.5 human [O60890-1] |
Organism-specific databases
CTDi | 4983 |
DisGeNETi | 4983 |
EuPathDBi | HostDB:ENSG00000079482.12 |
GeneCardsi | OPHN1 |
HGNCi | HGNC:8148 OPHN1 |
HPAi | HPA002919 |
MalaCardsi | OPHN1 |
MIMi | 300127 gene 300486 phenotype |
neXtProti | NX_O60890 |
OpenTargetsi | ENSG00000079482 |
Orphaneti | 137831 X-linked intellectual disability-cerebellar hypoplasia syndrome |
PharmGKBi | PA31934 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1451 Eukaryota ENOG410YJPS LUCA |
GeneTreei | ENSGT00940000160157 |
HOGENOMi | HOG000018767 |
HOVERGENi | HBG067993 |
InParanoidi | O60890 |
KOi | K20650 |
OMAi | VRKCINA |
OrthoDBi | 693048at2759 |
PhylomeDBi | O60890 |
TreeFami | TF316851 |
Enzyme and pathway databases
Reactomei | R-HSA-194840 Rho GTPase cycle |
Miscellaneous databases
ChiTaRSi | OPHN1 human |
GeneWikii | OPHN1 |
GenomeRNAii | 4983 |
PROi | PR:O60890 |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000079482 Expressed in 96 organ(s), highest expression level in corpus callosum |
Family and domain databases
Gene3Di | 1.10.555.10, 1 hit 1.20.1270.60, 1 hit 2.30.29.30, 1 hit |
InterProi | View protein in InterPro IPR027267 AH/BAR_dom_sf IPR011993 PH-like_dom_sf IPR001849 PH_domain IPR008936 Rho_GTPase_activation_prot IPR000198 RhoGAP_dom |
Pfami | View protein in Pfam PF00169 PH, 1 hit PF00620 RhoGAP, 1 hit |
SMARTi | View protein in SMART SM00233 PH, 1 hit SM00324 RhoGAP, 1 hit |
SUPFAMi | SSF103657 SSF103657, 1 hit SSF48350 SSF48350, 1 hit |
PROSITEi | View protein in PROSITE PS50003 PH_DOMAIN, 1 hit PS50238 RHOGAP, 1 hit |
ProtoNeti | Search... |
Entry informationi
Entry namei | OPHN1_HUMAN | |
Accessioni | O60890Primary (citable) accession number: O60890 Secondary accession number(s): B9EIP8 Q8WX47 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | July 11, 2002 |
Last sequence update: | August 1, 1998 | |
Last modified: | February 13, 2019 | |
This is version 156 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Complete proteome, Reference proteomeDocuments
- Human chromosome X
Human chromosome X: entries, gene names and cross-references to MIM - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations