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UniProtKB - O60890 (OPHN1_HUMAN)

Entry version 171 (02 Jun 2021)
Sequence version 1 (01 Aug 1998)
Previous versions | rss
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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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		O60890

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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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

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

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000079482.12

<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

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 variants 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.
Related information in OMIM
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 variant, 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

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		O60890, Tbio

Genetic variation 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 or proteolytic cleavage.<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

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		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: a multi-organism proteome resource

More...ProteomicsDBi		49656 [O60890-1]

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 corpus callosum and 117 other tissues

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000079482, Low tissue specificity

<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%5Fsection">'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%5Fsection">'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

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		111029, 8 interactors

Protein interaction database and analysis system

More...IntActi		O60890, 2 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000347710

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		O60890, protein

<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

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

More...SMRi		O60890

Database of comparative protein structure models

More...ModBasei		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%5Fand%5Fdomains%5Fsection">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

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni569 – 588DisorderedSequence analysisAdd BLAST20
Regioni607 – 666DisorderedSequence analysisAdd BLAST60
Regioni680 – 770DisorderedSequence analysisAdd BLAST91
Regioni783 – 802DisorderedSequence analysisAdd BLAST20

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 type of amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi713 – 728Basic and acidic residuesSequence analysisAdd BLAST16
Compositional biasi734 – 755Pro residuesSequence analysisAdd BLAST22

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG1451, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000160157

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_011532_2_1_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		O60890

Identification of Orthologs from Complete Genome Data

More...OMAi		KHLVNVC

Database of Orthologous Groups

More...OrthoDBi		693048at2759

Database for complete collections of gene phylogenies

More...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%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<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%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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

This entry has 2 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: O60890-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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.

Show »
Length:311
Mass (Da):36,673
Checksum:i48A3897FB3B8BDCB
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A7P0T8V5A0A7P0T8V5_HUMAN
Oligophrenin-1
OPHN1
597Annotation score:

Annotation score:1 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>
A0A7P0T9G2A0A7P0T9G2_HUMAN
Oligophrenin-1
OPHN1
227Annotation score:

Annotation score:1 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>
A0A7P0T9W4A0A7P0T9W4_HUMAN
Oligophrenin-1
OPHN1
641Annotation score:

Annotation score:1 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>
A0A7P0TBB6A0A7P0TBB6_HUMAN
Oligophrenin-1
OPHN1
68Annotation score:

Annotation score:1 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>
A0A7P0TBH4A0A7P0TBH4_HUMAN
Oligophrenin-1
OPHN1
767Annotation score:

Annotation score:1 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>
A0A7P0Z4E9A0A7P0Z4E9_HUMAN
Oligophrenin-1
OPHN1
694Annotation score:

Annotation score:1 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>

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

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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

The Consensus CDS (CCDS) project

More...CCDSi		CCDS14388.1 [O60890-1]

Protein sequence database of the Protein Information Resource

More...PIRi		H59434

NCBI Reference Sequences

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

Genome annotation databases

Ensembl eukaryotic genome annotation project

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

Database of genes from NCBI RefSeq genomes

More...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

<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 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
CCDSiCCDS14388.1 [O60890-1]
PIRiH59434
RefSeqiNP_002538.1, NM_002547.2 [O60890-1]
XP_011529263.1, XM_011530961.1 [O60890-1]

3D structure databases

SMRiO60890
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi111029, 8 interactors
IntActiO60890, 2 interactors
STRINGi9606.ENSP00000347710

PTM databases

iPTMnetiO60890
PhosphoSitePlusiO60890
SwissPalmiO60890

Genetic variation databases

BioMutaiOPHN1

Proteomic databases

EPDiO60890
jPOSTiO60890
MassIVEiO60890
MaxQBiO60890
PaxDbiO60890
PeptideAtlasiO60890
PRIDEiO60890
ProteomicsDBi49656 [O60890-1]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		494, 108 antibodies

The DNASU plasmid repository

More...DNASUi		4983

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

GeneCards: human genes, protein and diseases

More...GeneCardsi		OPHN1
HGNCiHGNC:8148, OPHN1
HPAiENSG00000079482, Low tissue specificity
MalaCardsiOPHN1
MIMi300127, gene
300486, phenotype
neXtProtiNX_O60890
OpenTargetsiENSG00000079482
Orphaneti137831, X-linked intellectual disability-cerebellar hypoplasia syndrome
PharmGKBiPA31934
VEuPathDBiHostDB:ENSG00000079482.12

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG1451, Eukaryota
GeneTreeiENSGT00940000160157
HOGENOMiCLU_011532_2_1_1
InParanoidiO60890
OMAiKHLVNVC
OrthoDBi693048at2759
PhylomeDBiO60890
TreeFamiTF316851

Enzyme and pathway databases

PathwayCommonsiO60890
ReactomeiR-HSA-194840, Rho GTPase cycle

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		4983, 4 hits in 624 CRISPR screens

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

More...ChiTaRSi		OPHN1, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		OPHN1

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

More...GenomeRNAii		4983
PharosiO60890, Tbio

Protein Ontology

More...PROi		PR:O60890
RNActiO60890, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000079482, Expressed in corpus callosum and 117 other tissues

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

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<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%5Fand%5Fisoforms">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: June 2, 2021
This is version 171 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

Reference proteome

Documents

  1. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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