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Entry version 156 (13 Feb 2019)
Sequence version 1 (01 Aug 1998)
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Protein

Oligophrenin-1

Gene

OPHN1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>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

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionGTPase activation
Biological processEndocytosis, Neurogenesis

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-194840 Rho GTPase cycle

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Oligophrenin-1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:OPHN1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome X

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000079482.12

Human Gene Nomenclature Database

More...
HGNCi
HGNC:8148 OPHN1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
300127 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O60890

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_066746199P → PEFSLLMNGLKIFIKCL in MRXSO. 1 Publication1

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

DisGeNET

More...
DisGeNETi
4983

MalaCards human disease database

More...
MalaCardsi
OPHN1
MIMi300486 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000079482

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
137831 X-linked intellectual disability-cerebellar hypoplasia syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA31934

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
OPHN1

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000567601 – 802Oligophrenin-1Add BLAST802

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
O60890

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
O60890

MaxQB - The MaxQuant DataBase

More...
MaxQBi
O60890

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
O60890

PeptideAtlas

More...
PeptideAtlasi
O60890

PRoteomics IDEntifications database

More...
PRIDEi
O60890

ProteomicsDB human proteome resource

More...
ProteomicsDBi
49656

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
O60890

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
O60890

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
O60890

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in brain.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000079482 Expressed in 96 organ(s), highest expression level in corpus callosum

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA002919

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
111029, 6 interactors

Protein interaction database and analysis system

More...
IntActi
O60890, 1 interactor

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000347710

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
O60890

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
O60890

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini265 – 368PHPROSITE-ProRule annotationAdd BLAST104
Domaini380 – 564Rho-GAPPROSITE-ProRule annotationAdd BLAST185

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi629 – 761Pro-richAdd BLAST133

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG1451 Eukaryota
ENOG410YJPS LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000160157

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000018767

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG067993

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
O60890

KEGG Orthology (KO)

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KOi
K20650

Identification of Orthologs from Complete Genome Data

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OMAi
VRKCINA

Database of Orthologous Groups

More...
OrthoDBi
693048at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
O60890

TreeFam database of animal gene trees

More...
TreeFami
TF316851

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.10.555.10, 1 hit
1.20.1270.60, 1 hit
2.30.29.30, 1 hit

Integrated resource of protein families, domains and functional sites

More...
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

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00169 PH, 1 hit
PF00620 RhoGAP, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00233 PH, 1 hit
SM00324 RhoGAP, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF103657 SSF103657, 1 hit
SSF48350 SSF48350, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50003 PH_DOMAIN, 1 hit
PS50238 RHOGAP, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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

The Consensus CDS (CCDS) project

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CCDSi
CCDS14388.1 [O60890-1]

Protein sequence database of the Protein Information Resource

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PIRi
H59434

NCBI Reference Sequences

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RefSeqi
NP_002538.1, NM_002547.2 [O60890-1]
XP_011529263.1, XM_011530961.1 [O60890-1]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.128824

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000355520; ENSP00000347710; ENSG00000079482 [O60890-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
4983

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:4983

UCSC genome browser

More...
UCSCi
uc004dww.5 human [O60890-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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
jPOSTiO60890
MaxQBiO60890
PaxDbiO60890
PeptideAtlasiO60890
PRIDEiO60890
ProteomicsDBi49656

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
4983
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
4983
DisGeNETi4983
EuPathDBiHostDB:ENSG00000079482.12

GeneCards: human genes, protein and diseases

More...
GeneCardsi
OPHN1
HGNCiHGNC:8148 OPHN1
HPAiHPA002919
MalaCardsiOPHN1
MIMi300127 gene
300486 phenotype
neXtProtiNX_O60890
OpenTargetsiENSG00000079482
Orphaneti137831 X-linked intellectual disability-cerebellar hypoplasia syndrome
PharmGKBiPA31934

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG1451 Eukaryota
ENOG410YJPS LUCA
GeneTreeiENSGT00940000160157
HOGENOMiHOG000018767
HOVERGENiHBG067993
InParanoidiO60890
KOiK20650
OMAiVRKCINA
OrthoDBi693048at2759
PhylomeDBiO60890
TreeFamiTF316851

Enzyme and pathway databases

ReactomeiR-HSA-194840 Rho GTPase cycle

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
OPHN1 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
OPHN1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
4983

Protein Ontology

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PROi
PR:O60890

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

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

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

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiOPHN1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: O60890
Secondary accession number(s): B9EIP8
, Q5JQ81, Q6PCC1, Q8WX47
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated 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.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

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