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Protein

Oligophrenin-1

Gene

OPHN1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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

Keywordsi

Molecular functionGTPase activation
Biological processEndocytosis, Neurogenesis

Enzyme and pathway databases

ReactomeiR-HSA-194840 Rho GTPase cycle

Names & Taxonomyi

Protein namesi
Recommended name:
Oligophrenin-1
Gene namesi
Name:OPHN1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

EuPathDBiHostDB:ENSG00000079482.12
HGNCiHGNC:8148 OPHN1
MIMi300127 gene
neXtProtiNX_O60890

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell junction, Cell projection, Cytoplasm, Synapse

Pathology & 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:300486
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_066746199P → PEFSLLMNGLKIFIKCL in MRXSO. 1 Publication1

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

DisGeNETi4983
MalaCardsiOPHN1
MIMi300486 phenotype
OpenTargetsiENSG00000079482
Orphaneti137831 X-linked intellectual disability-cerebellar hypoplasia syndrome
PharmGKBiPA31934

Polymorphism and mutation databases

BioMutaiOPHN1

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000567601 – 802Oligophrenin-1Add BLAST802

Proteomic databases

EPDiO60890
MaxQBiO60890
PaxDbiO60890
PeptideAtlasiO60890
PRIDEiO60890
ProteomicsDBi49656

PTM databases

iPTMnetiO60890
PhosphoSitePlusiO60890
SwissPalmiO60890

Expressioni

Tissue specificityi

Expressed in brain.

Gene expression databases

BgeeiENSG00000079482 Expressed in 96 organ(s), highest expression level in corpus callosum
CleanExiHS_OPHN1

Organism-specific databases

HPAiHPA002919

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

Protein-protein interaction databases

BioGridi111029, 6 interactors
IntActiO60890, 1 interactor
STRINGi9606.ENSP00000347710

Structurei

3D structure databases

ProteinModelPortaliO60890
SMRiO60890
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini265 – 368PHPROSITE-ProRule annotationAdd BLAST104
Domaini380 – 564Rho-GAPPROSITE-ProRule annotationAdd BLAST185

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi629 – 761Pro-richAdd BLAST133

Phylogenomic databases

eggNOGiKOG1451 Eukaryota
ENOG410YJPS LUCA
GeneTreeiENSGT00930000150818
HOGENOMiHOG000018767
HOVERGENiHBG067993
InParanoidiO60890
KOiK20650
OMAiVRKCINA
OrthoDBiEOG091G01TT
PhylomeDBiO60890
TreeFamiTF316851

Family and domain databases

Gene3Di1.10.555.10, 1 hit
1.20.1270.60, 1 hit
2.30.29.30, 1 hit
InterProiView protein in InterPro
IPR027267 AH/BAR_dom_sf
IPR011993 PH-like_dom_sf
IPR001849 PH_domain
IPR008936 Rho_GTPase_activation_prot
IPR000198 RhoGAP_dom
PfamiView protein in Pfam
PF00169 PH, 1 hit
PF00620 RhoGAP, 1 hit
SMARTiView protein in SMART
SM00233 PH, 1 hit
SM00324 RhoGAP, 1 hit
SUPFAMiSSF103657 SSF103657, 1 hit
SSF48350 SSF48350, 1 hit
PROSITEiView protein in PROSITE
PS50003 PH_DOMAIN, 1 hit
PS50238 RHOGAP, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 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.

« Hide
        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
Length:802
Mass (Da):91,641
Last modified:August 1, 1998 - v1
Checksum:iA24D150048071608
GO
Isoform 2 (identifier: O60890-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     278-311: WALGISWVKYYCQYEKETKTLTMTPMEQKPGAKQ → CVWGHRGIHWVSISQELLPLVGCEFWAPLLFIDP
     312-802: Missing.

Note: No experimental confirmation available.
Show »
Length:311
Mass (Da):36,673
Checksum:i48A3897FB3B8BDCB
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06118439V → I1 PublicationCorresponds to variant dbSNP:rs41303733EnsemblClinVar.1
Natural variantiVAR_01363845A → T1 PublicationCorresponds to variant dbSNP:rs148262378EnsemblClinVar.1
Natural variantiVAR_066746199P → PEFSLLMNGLKIFIKCL in MRXSO. 1 Publication1
Natural variantiVAR_013639301T → M1 PublicationCorresponds to variant dbSNP:rs138108344EnsemblClinVar.1
Natural variantiVAR_033452693M → I. Corresponds to variant dbSNP:rs36095561EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_055336278 – 311WALGI…PGAKQ → CVWGHRGIHWVSISQELLPL VGCEFWAPLLFIDP in isoform 2. 1 PublicationAdd BLAST34
Alternative sequenceiVSP_055337312 – 802Missing in isoform 2. 1 PublicationAdd BLAST491

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ001189 mRNA Translation: CAA04579.1
AJ248245
, AJ248246, AJ248247, AJ248248, AJ248249, AJ248250, AJ248251, AJ248252, AJ248253, AJ248254, AJ248255, AJ248256, AJ248257, AJ248258, AJ248259, AJ248260, AJ248261, AJ248262, AJ248263, AJ248264, AJ248265, AJ248266, AJ248267 Genomic DNA Translation: CAB96181.1
AB102656 mRNA Translation: BAC81125.1
AL157700
, AL158201, AL672138, Z82203 Genomic DNA Translation: CAD18899.2
AL158201
, AL157700, AL672138, Z82203 Genomic DNA Translation: CAI40982.1
AL672138
, AL157700, AL158201, Z82203 Genomic DNA Translation: CAI41508.1
Z82203
, AL157700, AL158201, AL672138 Genomic DNA Translation: CAI42695.1
BC059393 mRNA Translation: AAH59393.1
BC140763 mRNA Translation: AAI40764.1
CCDSiCCDS14388.1 [O60890-1]
PIRiH59434
RefSeqiNP_002538.1, NM_002547.2 [O60890-1]
XP_011529263.1, XM_011530961.1 [O60890-1]
UniGeneiHs.128824

Genome annotation databases

EnsembliENST00000355520; ENSP00000347710; ENSG00000079482 [O60890-1]
GeneIDi4983
KEGGihsa:4983
UCSCiuc004dww.5 human [O60890-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ001189 mRNA Translation: CAA04579.1
AJ248245
, AJ248246, AJ248247, AJ248248, AJ248249, AJ248250, AJ248251, AJ248252, AJ248253, AJ248254, AJ248255, AJ248256, AJ248257, AJ248258, AJ248259, AJ248260, AJ248261, AJ248262, AJ248263, AJ248264, AJ248265, AJ248266, AJ248267 Genomic DNA Translation: CAB96181.1
AB102656 mRNA Translation: BAC81125.1
AL157700
, AL158201, AL672138, Z82203 Genomic DNA Translation: CAD18899.2
AL158201
, AL157700, AL672138, Z82203 Genomic DNA Translation: CAI40982.1
AL672138
, AL157700, AL158201, Z82203 Genomic DNA Translation: CAI41508.1
Z82203
, AL157700, AL158201, AL672138 Genomic DNA Translation: CAI42695.1
BC059393 mRNA Translation: AAH59393.1
BC140763 mRNA Translation: AAI40764.1
CCDSiCCDS14388.1 [O60890-1]
PIRiH59434
RefSeqiNP_002538.1, NM_002547.2 [O60890-1]
XP_011529263.1, XM_011530961.1 [O60890-1]
UniGeneiHs.128824

3D structure databases

ProteinModelPortaliO60890
SMRiO60890
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111029, 6 interactors
IntActiO60890, 1 interactor
STRINGi9606.ENSP00000347710

PTM databases

iPTMnetiO60890
PhosphoSitePlusiO60890
SwissPalmiO60890

Polymorphism and mutation databases

BioMutaiOPHN1

Proteomic databases

EPDiO60890
MaxQBiO60890
PaxDbiO60890
PeptideAtlasiO60890
PRIDEiO60890
ProteomicsDBi49656

Protocols and materials databases

DNASUi4983
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000355520; ENSP00000347710; ENSG00000079482 [O60890-1]
GeneIDi4983
KEGGihsa:4983
UCSCiuc004dww.5 human [O60890-1]

Organism-specific databases

CTDi4983
DisGeNETi4983
EuPathDBiHostDB:ENSG00000079482.12
GeneCardsiOPHN1
HGNCiHGNC:8148 OPHN1
HPAiHPA002919
MalaCardsiOPHN1
MIMi300127 gene
300486 phenotype
neXtProtiNX_O60890
OpenTargetsiENSG00000079482
Orphaneti137831 X-linked intellectual disability-cerebellar hypoplasia syndrome
PharmGKBiPA31934
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1451 Eukaryota
ENOG410YJPS LUCA
GeneTreeiENSGT00930000150818
HOGENOMiHOG000018767
HOVERGENiHBG067993
InParanoidiO60890
KOiK20650
OMAiVRKCINA
OrthoDBiEOG091G01TT
PhylomeDBiO60890
TreeFamiTF316851

Enzyme and pathway databases

ReactomeiR-HSA-194840 Rho GTPase cycle

Miscellaneous databases

ChiTaRSiOPHN1 human
GeneWikiiOPHN1
GenomeRNAii4983
PROiPR:O60890
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000079482 Expressed in 96 organ(s), highest expression level in corpus callosum
CleanExiHS_OPHN1

Family and domain databases

Gene3Di1.10.555.10, 1 hit
1.20.1270.60, 1 hit
2.30.29.30, 1 hit
InterProiView protein in InterPro
IPR027267 AH/BAR_dom_sf
IPR011993 PH-like_dom_sf
IPR001849 PH_domain
IPR008936 Rho_GTPase_activation_prot
IPR000198 RhoGAP_dom
PfamiView protein in Pfam
PF00169 PH, 1 hit
PF00620 RhoGAP, 1 hit
SMARTiView protein in SMART
SM00233 PH, 1 hit
SM00324 RhoGAP, 1 hit
SUPFAMiSSF103657 SSF103657, 1 hit
SSF48350 SSF48350, 1 hit
PROSITEiView protein in PROSITE
PS50003 PH_DOMAIN, 1 hit
PS50238 RHOGAP, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiOPHN1_HUMAN
AccessioniPrimary (citable) accession number: O60890
Secondary accession number(s): B9EIP8
, Q5JQ81, Q6PCC1, Q8WX47
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 11, 2002
Last sequence update: August 1, 1998
Last modified: November 7, 2018
This is version 153 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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 proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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