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UniProtKB - O75962 (TRIO_HUMAN)

Entry version 215 (07 Apr 2021)
Sequence version 2 (01 Sep 2009)
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Protein

Triple functional domain protein

Gene

TRIO

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

Guanine nucleotide exchange factor (GEF) for RHOA and RAC1 GTPases (PubMed:8643598, PubMed:22155786, PubMed:27418539). Involved in coordinating actin remodeling, which is necessary for cell migration and growth (PubMed:10341202, PubMed:22155786). Plays a key role in the regulation of neurite outgrowth and lamellipodia formation (PubMed:32109419). In developing hippocampal neurons, limits dendrite formation, without affecting the establishment of axon polarity. Once dendrites are formed, involved in the control of synaptic function by regulating the endocytosis of AMPA-selective glutamate receptors (AMPARs) at CA1 excitatory synapses (By similarity). May act as a regulator of adipogenesis (By similarity).By similarity5 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei2825ATPPROSITE-ProRule annotation1
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei2915By similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi2802 – 2810ATPPROSITE-ProRule annotation9

<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 functionGuanine-nucleotide releasing factor, Kinase, Serine/threonine-protein kinase, Transferase
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		O75962

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-193648, NRAGE signals death through JNK
R-HSA-194840, Rho GTPase cycle
R-HSA-416476, G alpha (q) signalling events
R-HSA-416482, G alpha (12/13) signalling events
R-HSA-418885, DCC mediated attractive signaling

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		O75962

SIGNOR Signaling Network Open Resource

More...SIGNORi		O75962

<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:
Triple functional domain protein (EC:2.7.11.1)
Alternative name(s):
PTPRF-interacting protein
<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:TRIO
<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 5

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:12303, TRIO

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		601893, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_O75962

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000038382.17

<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 projection, Cytoplasm

<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

Intellectual developmental disorder, autosomal dominant 44, with microcephaly (MRD44)3 Publications
The disease may be caused by variants affecting the gene represented in this entry.
Disease descriptionA disorder characterized by developmental delay, variable intellectual disability, distinctive facial features, and abnormalities of the fingers. Most patients also have microcephaly.
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_083915768 – 3097Missing in MRD44. 1 PublicationAdd BLAST2330
Natural variantiVAR_077093924R → S in MRD44; unknown pathological significance. 1 Publication1
Natural variantiVAR_0770951238Y → H in MRD44; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs756004023Ensembl.1
Natural variantiVAR_0839201299E → K in MRD44; severely decreased activation of RAC1-mediated signaling; severely decreased neurite outgrowth. 1 Publication1
Natural variantiVAR_0770961428R → Q in MRD44; severely decreased activation of RAC1-mediated signaling; severely decreased neurite outgrowth. 2 PublicationsCorresponds to variant dbSNP:rs879255626EnsemblClinVar.1
Natural variantiVAR_0770971461P → T in MRD44; no effect on RAC1-mediated signaling; no effect on neurite outgrowth. 2 PublicationsCorresponds to variant dbSNP:rs879255627EnsemblClinVar.1
Natural variantiVAR_0839221469H → R in MRD44; decreased activation of RAC1-mediated signaling; severely decreased neurite outgrowth. 1 PublicationCorresponds to variant dbSNP:rs1554070777EnsemblClinVar.1
Natural variantiVAR_0770981922A → T in MRD44; unknown pathological significance. 1 Publication1
Natural variantiVAR_0770991939S → N in MRD44; unknown pathological significance. 1 Publication1
Natural variantiVAR_0771002201L → V in MRD44; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs771342869Ensembl.1
Natural variantiVAR_0771012247E → D in MRD44; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1258664728Ensembl.1
Natural variantiVAR_0771022707R → Q in MRD44; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs768858988Ensembl.1
Intellectual developmental disorder, autosomal dominant 63, with macrocephaly (MRD63)2 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD63 is characterized by moderate to severe impaired intellectual development with poor or absent speech, global developmental delay, and variable behavioral abnormalities. Variable dysmorphic features are preset in half of the patients.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0839161075T → I in MRD63; slightly increased occipitofrontal circumference; increased activation of RAC1-mediated signaling; increased lamellipodia formation. 1 Publication1
Natural variantiVAR_0839171078R → G in MRD63; increased activation of RAC1-mediated signaling; increased neurite outgrowth. 1 Publication1
Natural variantiVAR_0839181078R → Q in MRD63; increased activation of RAC1-mediated signaling; increased neurite outgrowth. 1 Publication1
Natural variantiVAR_0839191078R → W in MRD63; increased activation of RAC1-mediated signaling; increased neurite outgrowth. 1 PublicationCorresponds to variant dbSNP:rs1554065887Ensembl.1
Natural variantiVAR_0770941080N → I in MRD63; slightly increased occipitofrontal circumference; increased activation of RAC1-mediated signaling; increased neurite outgrowth. 2 PublicationsCorresponds to variant dbSNP:rs879255628EnsemblClinVar.1
Natural variantiVAR_0839211461P → L in MRD63; slightly increased occipitofrontal circumference; slightly increased RAC1-mediated signaling; slightly increased neurite outgrowth. 1 Publication1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi1299E → A: 50% decrease in nucleotide exchange activity. 1 Publication1
Mutagenesisi1303T → A: 40% decrease in nucleotide exchange activity. 1 Publication1
Mutagenesisi1389N → A: No change in nucleotide exchange activity. 1 Publication1
Mutagenesisi1426V → A: 90% decrease in nucleotide exchange activity. 1 Publication1
Mutagenesisi1427Q → A: 80% decrease in nucleotide exchange activity. 1 Publication1
Mutagenesisi1428R → A: 80% decrease in nucleotide exchange activity. 1 Publication1
Mutagenesisi1430T → A: 80% decrease in nucleotide exchange activity. 1 Publication1
Mutagenesisi1431K → A: Loss of nucleotide exchange activity. 1 Publication1
Mutagenesisi1434L → A: 40% decrease in nucleotide exchange activity. 1 Publication1
Mutagenesisi1437K → A: No change in nucleotide exchange activity. 1 Publication1
Mutagenesisi1438E → A: 30% decrease in nucleotide exchange activity. 1 Publication1
Mutagenesisi2917K → A: Expected to disrupt kinase activity. Causes reorganization of the actin cytoskeleton in the absence of NGF. 1 Publication1

Keywords - Diseasei

Disease variant, Mental retardation

Organism-specific databases

DisGeNET

More...DisGeNETi		7204

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		TRIO

MalaCards human disease database

More...MalaCardsi		TRIO
MIMi617061, phenotype
618825, phenotype

Open Targets

More...OpenTargetsi		ENSG00000038382

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

More...Orphaneti		476126, Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA36982

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		O75962, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		TRIO

<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_00000809781 – 3097Triple functional domain proteinAdd BLAST3097

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei1627PhosphoserineBy similarity1
Modified residuei1632PhosphoserineBy similarity1
Modified residuei1633PhosphoserineBy similarity1
Modified residuei1824PhosphothreonineBy similarity1
Modified residuei2282PhosphoserineCombined sources1
Modified residuei2455PhosphoserineCombined sources1
Modified residuei2459PhosphoserineCombined sources1
Modified residuei2631PhosphoserineCombined sources1
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi2696 ↔ 2759PROSITE-ProRule annotation

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Phosphorylated on serine residue(s).

Keywords - PTMi

Disulfide bond, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		O75962

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		O75962

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		O75962

MaxQB - The MaxQuant DataBase

More...MaxQBi		O75962

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

More...PaxDbi		O75962

PeptideAtlas

More...PeptideAtlasi		O75962

PRoteomics IDEntifications database

More...PRIDEi		O75962

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		50323 [O75962-1]
50324 [O75962-2]
50325 [O75962-3]
50326 [O75962-4]
50327 [O75962-5]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		O75962

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

More...PhosphoSitePlusi		O75962

<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

Widely expressed, with highest levels in heart, skeletal muscle, and brain.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000038382, Expressed in stomach and 232 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		O75962, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		O75962, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000038382, 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 CARMIL1 (PubMed:19846667).

Interacts with PTPRF/LAR (PubMed:8643598).

Interacts with ANKRD26 (PubMed:22666460).

Interacts with Bassoon/BSN and Piccolo/PCLO (By similarity).

Interacts with the cytoplasmic region of the heterodimer formed by NGFR and SORCS2. ProNGF binding mediates dissociation of TRIO from the receptor complex (PubMed:22155786).

By similarity4 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		113055, 51 interactors

Database of interacting proteins

More...DIPi		DIP-37578N

Protein interaction database and analysis system

More...IntActi		O75962, 31 interactors

Molecular INTeraction database

More...MINTi		O75962

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000339299

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		O75962, 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

Secondary structure

13097
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

More...SMRi		O75962

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		O75962

<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>Domaini65 – 210CRAL-TRIOPROSITE-ProRule annotationAdd BLAST146
<p>This subsection of the 'Family and Domains' section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati311 – 418Spectrin 1Add BLAST108
Repeati538 – 644Spectrin 2Add BLAST107
Repeati878 – 984Spectrin 3Add BLAST107
Repeati1109 – 1216Spectrin 4Add BLAST108
Domaini1292 – 1467DH 1PROSITE-ProRule annotationAdd BLAST176
Domaini1480 – 1591PH 1PROSITE-ProRule annotationAdd BLAST112
Domaini1656 – 1721SH3 1PROSITE-ProRule annotationAdd BLAST66
Domaini1969 – 2145DH 2PROSITE-ProRule annotationAdd BLAST177
Domaini2157 – 2271PH 2PROSITE-ProRule annotationAdd BLAST115
Domaini2551 – 2616SH3 2PROSITE-ProRule annotationAdd BLAST66
Domaini2685 – 2775Ig-like C2-typeAdd BLAST91
Domaini2796 – 3052Protein kinasePROSITE-ProRule annotationAdd BLAST257

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 biasi715 – 718Poly-Gln4
Compositional biasi1845 – 1850Poly-Ser6
Compositional biasi2292 – 2312Poly-GlyAdd BLAST21
Compositional biasi2545 – 2551Poly-Ser7

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The N-terminal DBL/GEF domain specifically catalyzes nucleotide exchange for RAC1, leading to the activation of Jun kinase and the production of membrane ruffles. The second DBL/GEF domain is an exchange factor for rhoa and induces the formation of stress fibers.

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family.Curated

Keywords - Domaini

Immunoglobulin domain, Repeat, SH3 domain

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG0032, Eukaryota
KOG4240, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000154766

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_000288_76_3_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		O75962

Identification of Orthologs from Complete Genome Data

More...OMAi		IRYLHNC

Database of Orthologous Groups

More...OrthoDBi		5761at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		O75962

TreeFam database of animal gene trees

More...TreeFami		TF318080

Family and domain databases

Conserved Domains Database

More...CDDi		cd00160, RhoGEF, 2 hits
cd00170, SEC14, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.20.900.10, 2 hits
2.30.29.30, 2 hits
2.60.40.10, 1 hit
3.40.525.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR001251, CRAL-TRIO_dom
IPR036865, CRAL-TRIO_dom_sf
IPR035899, DBL_dom_sf
IPR000219, DH-domain
IPR007110, Ig-like_dom
IPR036179, Ig-like_dom_sf
IPR013783, Ig-like_fold
IPR013098, Ig_I-set
IPR003599, Ig_sub
IPR003598, Ig_sub2
IPR028570, Kalirin/TRIO
IPR011009, Kinase-like_dom_sf
IPR011993, PH-like_dom_sf
IPR001849, PH_domain
IPR000719, Prot_kinase_dom
IPR008271, Ser/Thr_kinase_AS
IPR036028, SH3-like_dom_sf
IPR001452, SH3_domain
IPR018159, Spectrin/alpha-actinin
IPR002017, Spectrin_repeat

The PANTHER Classification System

More...PANTHERi		PTHR22826:SF104, PTHR22826:SF104, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00650, CRAL_TRIO, 1 hit
PF07679, I-set, 1 hit
PF00169, PH, 2 hits
PF00069, Pkinase, 1 hit
PF00621, RhoGEF, 2 hits
PF00018, SH3_1, 1 hit
PF00435, Spectrin, 4 hits

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00409, IG, 1 hit
SM00408, IGc2, 1 hit
SM00233, PH, 2 hits
SM00325, RhoGEF, 2 hits
SM00220, S_TKc, 1 hit
SM00516, SEC14, 1 hit
SM00326, SH3, 2 hits
SM00150, SPEC, 6 hits

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF48065, SSF48065, 2 hits
SSF48726, SSF48726, 1 hit
SSF50044, SSF50044, 2 hits
SSF52087, SSF52087, 1 hit
SSF56112, SSF56112, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50191, CRAL_TRIO, 1 hit
PS50010, DH_2, 2 hits
PS50835, IG_LIKE, 1 hit
PS50003, PH_DOMAIN, 2 hits
PS50011, PROTEIN_KINASE_DOM, 1 hit
PS00108, PROTEIN_KINASE_ST, 1 hit
PS50002, SH3, 2 hits

<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 (5+)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 5 <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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 5 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: O75962-1) [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
MSGSSGGAAA PAASSGPAAA ASAAGSGCGG GAGEGAEEAA KDLADIAAFF 
        60         70         80         90        100
RSGFRKNDEM KAMDVLPILK EKVAYLSGGR DKRGGPILTF PARSNHDRIR 
       110        120        130        140        150
QEDLRRLISY LACIPSEEVC KRGFTVIVDM RGSKWDSIKP LLKILQESFP 
       160        170        180        190        200
CCIHVALIIK PDNFWQKQRT NFGSSKFEFE TNMVSLEGLT KVVDPSQLTP 
       210        220        230        240        250
EFDGCLEYNH EEWIEIRVAF EDYISNATHM LSRLEELQDI LAKKELPQDL 
       260        270        280        290        300
EGARNMIEEH SQLKKKVIKA PIEDLDLEGQ KLLQRIQSSE SFPKKNSGSG 
       310        320        330        340        350
NADLQNLLPK VSTMLDRLHS TRQHLHQMWH VRKLKLDQCF QLRLFEQDAE 
       360        370        380        390        400
KMFDWITHNK GLFLNSYTEI GTSHPHAMEL QTQHNHFAMN CMNVYVNINR 
       410        420        430        440        450
IMSVANRLVE SGHYASQQIR QIASQLEQEW KAFAAALDER STLLDMSSIF 
       460        470        480        490        500
HQKAEKYMSN VDSWCKACGE VDLPSELQDL EDAIHHHQGI YEHITLAYSE 
       510        520        530        540        550
VSQDGKSLLD KLQRPLTPGS SDSLTASANY SKAVHHVLDV IHEVLHHQRQ 
       560        570        580        590        600
LENIWQHRKV RLHQRLQLCV FQQDVQQVLD WIENHGEAFL SKHTGVGKSL 
       610        620        630        640        650
HRARALQKRH EDFEEVAQNT YTNADKLLEA AEQLAQTGEC DPEEIYQAAH 
       660        670        680        690        700
QLEDRIQDFV RRVEQRKILL DMSVSFHTHV KELWTWLEEL QKELLDDVYA 
       710        720        730        740        750
ESVEAVQDLI KRFGQQQQTT LQVTVNVIKE GEDLIQQLRD SAISSNKTPH 
       760        770        780        790        800
NSSINHIETV LQQLDEAQSQ MEELFQERKI KLELFLQLRI FERDAIDIIS 
       810        820        830        840        850
DLESWNDELS QQMNDFDTED LTIAEQRLQH HADKALTMNN LTFDVIHQGQ 
       860        870        880        890        900
DLLQYVNEVQ ASGVELLCDR DVDMATRVQD LLEFLHEKQQ ELDLAAEQHR 
       910        920        930        940        950
KHLEQCVQLR HLQAEVKQVL GWIRNGESML NAGLITASSL QEAEQLQREH 
       960        970        980        990       1000
EQFQHAIEKT HQSALQVQQK AEAMLQANHY DMDMIRDCAE KVASHWQQLM 
      1010       1020       1030       1040       1050
LKMEDRLKLV NASVAFYKTS EQVCSVLESL EQEYKREEDW CGGADKLGPN 
      1060       1070       1080       1090       1100
SETDHVTPMI SKHLEQKEAF LKACTLARRN ADVFLKYLHR NSVNMPGMVT 
      1110       1120       1130       1140       1150
HIKAPEQQVK NILNELFQRE NRVLHYWTMR KRRLDQCQQY VVFERSAKQA 
      1160       1170       1180       1190       1200
LEWIHDNGEF YLSTHTSTGS SIQHTQELLK EHEEFQITAK QTKERVKLLI 
      1210       1220       1230       1240       1250
QLADGFCEKG HAHAAEIKKC VTAVDKRYRD FSLRMEKYRT SLEKALGISS 
      1260       1270       1280       1290       1300
DSNKSSKSLQ LDIIPASIPG SEVKLRDAAH ELNEEKRKSA RRKEFIMAEL 
      1310       1320       1330       1340       1350
IQTEKAYVRD LRECMDTYLW EMTSGVEEIP PGIVNKELII FGNMQEIYEF 
      1360       1370       1380       1390       1400
HNNIFLKELE KYEQLPEDVG HCFVTWADKF QMYVTYCKNK PDSTQLILEH 
      1410       1420       1430       1440       1450
AGSYFDEIQQ RHGLANSISS YLIKPVQRIT KYQLLLKELL TCCEEGKGEI 
      1460       1470       1480       1490       1500
KDGLEVMLSV PKRANDAMHL SMLEGFDENI ESQGELILQE SFQVWDPKTL 
      1510       1520       1530       1540       1550
IRKGRERHLF LFEMSLVFSK EVKDSSGRSK YLYKSKLFTS ELGVTEHVEG 
      1560       1570       1580       1590       1600
DPCKFALWVG RTPTSDNKIV LKASSIENKQ DWIKHIREVI QERTIHLKGA 
      1610       1620       1630       1640       1650
LKEPIHIPKT APATRQKGRR DGEDLDSQGD GSSQPDTISI ASRTSQNTLD 
      1660       1670       1680       1690       1700
SDKLSGGCEL TVVIHDFTAC NSNELTIRRG QTVEVLERPH DKPDWCLVRT 
      1710       1720       1730       1740       1750
TDRSPAAEGL VPCGSLCIAH SRSSMEMEGI FNHKDSLSVS SNDASPPASV 
      1760       1770       1780       1790       1800
ASLQPHMIGA QSSPGPKRPG NTLRKWLTSP VRRLSSGKAD GHVKKLAHKH 
      1810       1820       1830       1840       1850
KKSREVRKSA DAGSQKDSDD SAATPQDETV EERGRNEGLS SGTLSKSSSS 
      1860       1870       1880       1890       1900
GMQSCGEEEG EEGADAVPLP PPMAIQQHSL LQPDSQDDKA SSRLLVRPTS 
      1910       1920       1930       1940       1950
SETPSAAELV SAIEELVKSK MALEDRPSSL LVDQGDSSSP SFNPSDNSLL 
      1960       1970       1980       1990       2000
SSSSPIDEME ERKSSSLKRR HYVLQELVET ERDYVRDLGY VVEGYMALMK 
      2010       2020       2030       2040       2050
EDGVPDDMKG KDKIVFGNIH QIYDWHRDFF LGELEKCLED PEKLGSLFVK 
      2060       2070       2080       2090       2100
HERRLHMYIA YCQNKPKSEH IVSEYIDTFF EDLKQRLGHR LQLTDLLIKP 
      2110       2120       2130       2140       2150
VQRIMKYQLL LKDFLKYSKK ASLDTSELER AVEVMCIVPR RCNDMMNVGR 
      2160       2170       2180       2190       2200
LQGFDGKIVA QGKLLLQDTF LVTDQDAGLL PRCRERRIFL FEQIVIFSEP 
      2210       2220       2230       2240       2250
LDKKKGFSMP GFLFKNSIKV SCLCLEENVE NDPCKFALTS RTGDVVETFI 
      2260       2270       2280       2290       2300
LHSSSPSVRQ TWIHEINQIL ENQRNFLNAL TSPIEYQRNH SGGGGGGGSG 
      2310       2320       2330       2340       2350
GSGGGGGSGG GGAPSGGSGH SGGPSSCGGA PSTSRSRPSR IPQPVRHHPP 
      2360       2370       2380       2390       2400
VLVSSAASSQ AEADKMSGTS TPGPSLPPPG AAPEAGPSAP SRRPPGADAE 
      2410       2420       2430       2440       2450
GSEREAEPIP KMKVLESPRK GAANASGSSP DAPAKDARAS LGTLPLGKPR 
      2460       2470       2480       2490       2500
AGAASPLNSP LSSAVPSLGK EPFPPSSPLQ KGGSFWSSIP ASPASRPGSF 
      2510       2520       2530       2540       2550
TFPGDSDSLQ RQTPRHAAPG KDTDRMSTCS SASEQSVQST QSNGSESSSS 
      2560       2570       2580       2590       2600
SNISTMLVTH DYTAVKEDEI NVYQGEVVQI LASNQQNMFL VFRAATDQCP 
      2610       2620       2630       2640       2650
AAEGWIPGFV LGHTSAVIVE NPDGTLKKST SWHTALRLRK KSEKKDKDGK 
      2660       2670       2680       2690       2700
REGKLENGYR KSREGLSNKV SVKLLNPNYI YDVPPEFVIP LSEVTCETGE 
      2710       2720       2730       2740       2750
TVVLRCRVCG RPKASITWKG PEHNTLNNDG HYSISYSDLG EATLKIVGVT 
      2760       2770       2780       2790       2800
TEDDGIYTCI AVNDMGSASS SASLRVLGPG MDGIMVTWKD NFDSFYSEVA 
      2810       2820       2830       2840       2850
ELGRGRFSVV KKCDQKGTKR AVATKFVNKK LMKRDQVTHE LGILQSLQHP 
      2860       2870       2880       2890       2900
LLVGLLDTFE TPTSYILVLE MADQGRLLDC VVRWGSLTEG KIRAHLGEVL 
      2910       2920       2930       2940       2950
EAVRYLHNCR IAHLDLKPEN ILVDESLAKP TIKLADFGDA VQLNTTYYIH 
      2960       2970       2980       2990       3000
QLLGNPEFAA PEIILGNPVS LTSDTWSVGV LTYVLLSGVS PFLDDSVEET 
      3010       3020       3030       3040       3050
CLNICRLDFS FPDDYFKGVS QKAKEFVCFL LQEDPAKRPS AALALQEQWL 
      3060       3070       3080       3090 
QAGNGRSTGV LDTSRLTSFI ERRKHQNDVR PIRSIKNFLQ SRLLPRV
Length:3,097
Mass (Da):346,900
Last modified:September 1, 2009 - v2
<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:iEA9236DF88B0EA24
GO
Isoform 2 (identifier: O75962-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     2368-2368: G → E
     2369-2544: Missing.

Show »
Length:2,921
Mass (Da):329,389
Checksum:i7F2AEF630EF984C9
GO
Isoform 3 (identifier: O75962-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-2501: Missing.
     2502-2544: FPGDSDSLQR...QSVQSTQSNG → MLPSQAQGLL...LARNTFLKAC

Show »
Length:596
Mass (Da):66,206
Checksum:iF6DA7D25AE9E7F0C
GO
Isoform 4 (identifier: O75962-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-59: Missing.

Show »
Length:3,038
Mass (Da):341,598
Checksum:i2E9F96D84514638C
GO
Isoform 5 (identifier: O75962-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     2545-2563: SESSSSSNISTMLVTHDYT → VSASGGPRPPAPLPLSRQL
     2564-3097: Missing.

Show »
Length:2,563
Mass (Da):287,377
Checksum:iD55716EE24B33EFE
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 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E7EPJ7E7EPJ7_HUMAN
Non-specific serine/threonine prote...
TRIO
2,546Annotation score:

Annotation score:3 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>
E7EWP2E7EWP2_HUMAN
Triple functional domain protein
TRIO
2,309Annotation score:

Annotation score:2 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>
A0A1W2PRD7A0A1W2PRD7_HUMAN
Triple functional domain protein
TRIO
458Annotation 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>
F5H228F5H228_HUMAN
Triple functional domain protein
TRIO
1,508Annotation 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>
A0A087X139A0A087X139_HUMAN
Triple functional domain protein
TRIO
255Annotation 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>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAC34245 differs from that shown. Reason: Frameshift.Curated
The sequence AAC34245 differs from that shown. Reason: Frameshift.Curated
The sequence AAC34245 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence AAC43042 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti550 – 553QLEN → HVRT in AAC34245 (PubMed:8643598).Curated4
Sequence conflicti550 – 553QLEN → HVRT in AAC43042 (Ref. 6) Curated4
Sequence conflicti574D → E in AAC34245 (PubMed:8643598).Curated1
Sequence conflicti574D → E in AAC43042 (Ref. 6) Curated1
Sequence conflicti787 – 788QL → HV in AAC34245 (PubMed:8643598).Curated2
Sequence conflicti787 – 788QL → HV in AAC43042 (Ref. 6) Curated2

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_041899291S → T1 PublicationCorresponds to variant dbSNP:rs55772118Ensembl.1
Natural variantiVAR_059802348D → E. Corresponds to variant dbSNP:rs16903367Ensembl.1
Natural variantiVAR_083915768 – 3097Missing in MRD44. 1 PublicationAdd BLAST2330
Natural variantiVAR_077093924R → S in MRD44; unknown pathological significance. 1 Publication1
Natural variantiVAR_0839161075T → I in MRD63; slightly increased occipitofrontal circumference; increased activation of RAC1-mediated signaling; increased lamellipodia formation. 1 Publication1
Natural variantiVAR_0839171078R → G in MRD63; increased activation of RAC1-mediated signaling; increased neurite outgrowth. 1 Publication1
Natural variantiVAR_0839181078R → Q in MRD63; increased activation of RAC1-mediated signaling; increased neurite outgrowth. 1 Publication1
Natural variantiVAR_0839191078R → W in MRD63; increased activation of RAC1-mediated signaling; increased neurite outgrowth. 1 PublicationCorresponds to variant dbSNP:rs1554065887Ensembl.1
Natural variantiVAR_0770941080N → I in MRD63; slightly increased occipitofrontal circumference; increased activation of RAC1-mediated signaling; increased neurite outgrowth. 2 PublicationsCorresponds to variant dbSNP:rs879255628EnsemblClinVar.1
Natural variantiVAR_0770951238Y → H in MRD44; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs756004023Ensembl.1
Natural variantiVAR_0839201299E → K in MRD44; severely decreased activation of RAC1-mediated signaling; severely decreased neurite outgrowth. 1 Publication1
Natural variantiVAR_0693711368D → V Found in patient with severe intellectual disability; unknown pathological significance. 1 Publication1
Natural variantiVAR_0770961428R → Q in MRD44; severely decreased activation of RAC1-mediated signaling; severely decreased neurite outgrowth. 2 PublicationsCorresponds to variant dbSNP:rs879255626EnsemblClinVar.1
Natural variantiVAR_0839211461P → L in MRD63; slightly increased occipitofrontal circumference; slightly increased RAC1-mediated signaling; slightly increased neurite outgrowth. 1 Publication1
Natural variantiVAR_0770971461P → T in MRD44; no effect on RAC1-mediated signaling; no effect on neurite outgrowth. 2 PublicationsCorresponds to variant dbSNP:rs879255627EnsemblClinVar.1
Natural variantiVAR_0839221469H → R in MRD44; decreased activation of RAC1-mediated signaling; severely decreased neurite outgrowth. 1 PublicationCorresponds to variant dbSNP:rs1554070777EnsemblClinVar.1
Natural variantiVAR_0598031613A → T. Corresponds to variant dbSNP:rs16903474EnsemblClinVar.1
Natural variantiVAR_0419001644T → M1 PublicationCorresponds to variant dbSNP:rs55687522Ensembl.1
Natural variantiVAR_0419011690H → R1 PublicationCorresponds to variant dbSNP:rs56292586Ensembl.1
Natural variantiVAR_0770981922A → T in MRD44; unknown pathological significance. 1 Publication1
Natural variantiVAR_0770991939S → N in MRD44; unknown pathological significance. 1 Publication1
Natural variantiVAR_0419021978V → M in a metastatic melanoma sample; somatic mutation. 1 Publication1
Natural variantiVAR_0771002201L → V in MRD44; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs771342869Ensembl.1
Natural variantiVAR_0419032242T → M1 PublicationCorresponds to variant dbSNP:rs55916212EnsemblClinVar.1
Natural variantiVAR_0771012247E → D in MRD44; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1258664728Ensembl.1
Natural variantiVAR_0693722563T → M Found in patient with severe intellectual disability; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs751663099EnsemblClinVar.1
Natural variantiVAR_0771022707R → Q in MRD44; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs768858988Ensembl.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_0233061 – 2501Missing in isoform 3. 1 PublicationAdd BLAST2501
Alternative sequenceiVSP_0378601 – 59Missing in isoform 4. 1 PublicationAdd BLAST59
Alternative sequenceiVSP_0044672368G → E in isoform 2. 1 Publication1
Alternative sequenceiVSP_0044682369 – 2544Missing in isoform 2. 1 PublicationAdd BLAST176
Alternative sequenceiVSP_0233072502 – 2544FPGDS…TQSNG → MLPSQAQGLLWWVFPLFPAS SLSYPPVSYRADGLARNTFL KAC in isoform 3. 1 PublicationAdd BLAST43
Alternative sequenceiVSP_0378612545 – 2563SESSS…THDYT → VSASGGPRPPAPLPLSRQL in isoform 5. 1 PublicationAdd BLAST19
Alternative sequenceiVSP_0378622564 – 3097Missing in isoform 5. 1 PublicationAdd BLAST534

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
AK131423 mRNA Translation: BAD18570.1
AC010419 Genomic DNA No translation available.
AC016549 Genomic DNA No translation available.
AC016654 Genomic DNA No translation available.
AC016656 Genomic DNA No translation available.
AC026456 Genomic DNA No translation available.
CH471102 Genomic DNA Translation: EAX08047.1
CH471102 Genomic DNA Translation: EAX08048.1
BC035585 mRNA Translation: AAH35585.1
BC017268 mRNA Translation: AAH17268.1
U42390 mRNA Translation: AAC34245.1 Sequence problems.
AF091395 mRNA Translation: AAC43042.1 Different initiation.
AB209754 mRNA Translation: BAD92991.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS3883.1 [O75962-1]

NCBI Reference Sequences

More...RefSeqi		NP_009049.2, NM_007118.3 [O75962-1]
XP_011512412.1, XM_011514110.2 [O75962-4]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000344135; ENSP00000339291; ENSG00000038382 [O75962-3]
ENST00000344204; ENSP00000339299; ENSG00000038382 [O75962-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		7204

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:7204

UCSC genome browser

More...UCSCi		uc003jff.4, human [O75962-1]

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

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross%5Freferences%5Fsection">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK131423 mRNA Translation: BAD18570.1
AC010419 Genomic DNA No translation available.
AC016549 Genomic DNA No translation available.
AC016654 Genomic DNA No translation available.
AC016656 Genomic DNA No translation available.
AC026456 Genomic DNA No translation available.
CH471102 Genomic DNA Translation: EAX08047.1
CH471102 Genomic DNA Translation: EAX08048.1
BC035585 mRNA Translation: AAH35585.1
BC017268 mRNA Translation: AAH17268.1
U42390 mRNA Translation: AAC34245.1 Sequence problems.
AF091395 mRNA Translation: AAC43042.1 Different initiation.
AB209754 mRNA Translation: BAD92991.1
CCDSiCCDS3883.1 [O75962-1]
RefSeqiNP_009049.2, NM_007118.3 [O75962-1]
XP_011512412.1, XM_011514110.2 [O75962-4]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1NTYX-ray1.70A1284-1594[»]
2NZ8X-ray2.00B1285-1594[»]
6D8ZX-ray2.65A/B/C1960-2275[»]
SMRiO75962
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi113055, 51 interactors
DIPiDIP-37578N
IntActiO75962, 31 interactors
MINTiO75962
STRINGi9606.ENSP00000339299

PTM databases

iPTMnetiO75962
PhosphoSitePlusiO75962

Genetic variation databases

BioMutaiTRIO

Proteomic databases

EPDiO75962
jPOSTiO75962
MassIVEiO75962
MaxQBiO75962
PaxDbiO75962
PeptideAtlasiO75962
PRIDEiO75962
ProteomicsDBi50323 [O75962-1]
50324 [O75962-2]
50325 [O75962-3]
50326 [O75962-4]
50327 [O75962-5]

Protocols and materials databases

ABCD curated depository of sequenced antibodies

More...ABCDi		O75962, 4 sequenced antibodies

Antibodypedia a portal for validated antibodies

More...Antibodypediai		2116, 77 antibodies

Genome annotation databases

EnsembliENST00000344135; ENSP00000339291; ENSG00000038382 [O75962-3]
ENST00000344204; ENSP00000339299; ENSG00000038382 [O75962-1]
GeneIDi7204
KEGGihsa:7204
UCSCiuc003jff.4, human [O75962-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		7204
DisGeNETi7204

GeneCards: human genes, protein and diseases

More...GeneCardsi		TRIO
GeneReviewsiTRIO
HGNCiHGNC:12303, TRIO
HPAiENSG00000038382, Low tissue specificity
MalaCardsiTRIO
MIMi601893, gene
617061, phenotype
618825, phenotype
neXtProtiNX_O75962
OpenTargetsiENSG00000038382
Orphaneti476126, Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
PharmGKBiPA36982
VEuPathDBiHostDB:ENSG00000038382.17

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0032, Eukaryota
KOG4240, Eukaryota
GeneTreeiENSGT00940000154766
HOGENOMiCLU_000288_76_3_1
InParanoidiO75962
OMAiIRYLHNC
OrthoDBi5761at2759
PhylomeDBiO75962
TreeFamiTF318080

Enzyme and pathway databases

PathwayCommonsiO75962
ReactomeiR-HSA-193648, NRAGE signals death through JNK
R-HSA-194840, Rho GTPase cycle
R-HSA-416476, G alpha (q) signalling events
R-HSA-416482, G alpha (12/13) signalling events
R-HSA-418885, DCC mediated attractive signaling
SignaLinkiO75962
SIGNORiO75962

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		7204, 19 hits in 1015 CRISPR screens

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

More...ChiTaRSi		TRIO, human
EvolutionaryTraceiO75962

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		TRIO_(gene)

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

More...GenomeRNAii		7204
PharosiO75962, Tbio

Protein Ontology

More...PROi		PR:O75962
RNActiO75962, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000038382, Expressed in stomach and 232 other tissues
ExpressionAtlasiO75962, baseline and differential
GenevisibleiO75962, HS

Family and domain databases

CDDicd00160, RhoGEF, 2 hits
cd00170, SEC14, 1 hit
Gene3Di1.20.900.10, 2 hits
2.30.29.30, 2 hits
2.60.40.10, 1 hit
3.40.525.10, 1 hit
InterProiView protein in InterPro
IPR001251, CRAL-TRIO_dom
IPR036865, CRAL-TRIO_dom_sf
IPR035899, DBL_dom_sf
IPR000219, DH-domain
IPR007110, Ig-like_dom
IPR036179, Ig-like_dom_sf
IPR013783, Ig-like_fold
IPR013098, Ig_I-set
IPR003599, Ig_sub
IPR003598, Ig_sub2
IPR028570, Kalirin/TRIO
IPR011009, Kinase-like_dom_sf
IPR011993, PH-like_dom_sf
IPR001849, PH_domain
IPR000719, Prot_kinase_dom
IPR008271, Ser/Thr_kinase_AS
IPR036028, SH3-like_dom_sf
IPR001452, SH3_domain
IPR018159, Spectrin/alpha-actinin
IPR002017, Spectrin_repeat
PANTHERiPTHR22826:SF104, PTHR22826:SF104, 1 hit
PfamiView protein in Pfam
PF00650, CRAL_TRIO, 1 hit
PF07679, I-set, 1 hit
PF00169, PH, 2 hits
PF00069, Pkinase, 1 hit
PF00621, RhoGEF, 2 hits
PF00018, SH3_1, 1 hit
PF00435, Spectrin, 4 hits
SMARTiView protein in SMART
SM00409, IG, 1 hit
SM00408, IGc2, 1 hit
SM00233, PH, 2 hits
SM00325, RhoGEF, 2 hits
SM00220, S_TKc, 1 hit
SM00516, SEC14, 1 hit
SM00326, SH3, 2 hits
SM00150, SPEC, 6 hits
SUPFAMiSSF48065, SSF48065, 2 hits
SSF48726, SSF48726, 1 hit
SSF50044, SSF50044, 2 hits
SSF52087, SSF52087, 1 hit
SSF56112, SSF56112, 1 hit
PROSITEiView protein in PROSITE
PS50191, CRAL_TRIO, 1 hit
PS50010, DH_2, 2 hits
PS50835, IG_LIKE, 1 hit
PS50003, PH_DOMAIN, 2 hits
PS50011, PROTEIN_KINASE_DOM, 1 hit
PS00108, PROTEIN_KINASE_ST, 1 hit
PS50002, SH3, 2 hits

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

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 nameiTRIO_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: O75962
Secondary accession number(s): D3DTD1
, Q13458, Q59EQ7, Q6PJC9, Q6ZN05, Q8IWK8
<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: December 1, 2000
Last sequence update: September 1, 2009
Last modified: April 7, 2021
This is version 215 of the entry and version 2 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

3D-structure, Reference proteome

Documents

  1. Human and mouse protein kinases
    Human and mouse protein kinases: classification and index
  2. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  3. Human entries with genetic variants
    List of human entries with genetic variants
  4. Human variants curated from literature reports
    Index of human variants curated from literature reports
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. SIMILARITY comments
    Index of protein domains and families
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