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Entry version 156 (08 May 2019)
Sequence version 3 (17 Oct 2006)
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Protein

Rho guanine nucleotide exchange factor 9

Gene

ARHGEF9

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

Acts as guanine nucleotide exchange factor (GEF) for CDC42. Promotes formation of GPHN clusters (By similarity).By similarity1 Publication

<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

GO - Biological processi

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

Molecular functionGuanine-nucleotide releasing factor

Enzyme and pathway databases

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-416482 G alpha (12/13) signalling events
R-HSA-977443 GABA receptor activation

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

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Rho guanine nucleotide exchange factor 9
Alternative name(s):
Collybistin
PEM-2 homolog
Rac/Cdc42 guanine nucleotide exchange factor 9
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:ARHGEF9
Synonyms:ARHDH9, KIAA0424
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome X

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:14561 ARHGEF9

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
300429 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O43307

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

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

Keywords - Cellular componenti

Cell junction, Cell membrane, Cytoplasm, Membrane, Postsynaptic cell membrane, 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

Epileptic encephalopathy, early infantile, 8 (EIEE8)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by hyperekplexia and early infantile epileptic encephalopathy. Neurologic features include exaggerated startle response, seizures, impaired psychomotor development, and mental retardation. Seizures can be provoked by tactile stimulation or extreme emotion.
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_02875255G → A in EIEE8; affects dendritic gephrin clustering and trafficking of GABA-A receptors to synapses. 1 PublicationCorresponds to variant dbSNP:rs121918361EnsemblClinVar.1
Natural variantiVAR_072742290R → H in EIEE8. 2 Publications1

Keywords - Diseasei

Disease mutation, Epilepsy

Organism-specific databases

DisGeNET

More...
DisGeNETi
23229

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

More...
GeneReviewsi
ARHGEF9

MalaCards human disease database

More...
MalaCardsi
ARHGEF9
MIMi300607 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000131089

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

More...
Orphaneti
163985 Hyperekplexia-epilepsy syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA24978

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
ARHGEF9

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

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002538951 – 516Rho guanine nucleotide exchange factor 9Add BLAST516

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 residuei502PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
O43307

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
O43307

MaxQB - The MaxQuant DataBase

More...
MaxQBi
O43307

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

More...
PaxDbi
O43307

PeptideAtlas

More...
PeptideAtlasi
O43307

PRoteomics IDEntifications database

More...
PRIDEi
O43307

ProteomicsDB human proteome resource

More...
ProteomicsDBi
48882
48883 [O43307-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
O43307

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

More...
PhosphoSitePlusi
O43307

<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

Detected in brain. Detected at low levels in heart.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000131089 Expressed in 215 organ(s), highest expression level in caudate nucleus

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
O43307 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
O43307 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA035419
HPA055291

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

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

Interacts with GPHN.By similarity

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
116834, 8 interactors

Protein interaction database and analysis system

More...
IntActi
O43307, 8 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000253401

<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

1516
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

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SMRi
O43307

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
O43307

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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini8 – 67SH3PROSITE-ProRule annotationAdd BLAST60
Domaini103 – 287DHPROSITE-ProRule annotationAdd BLAST185
Domaini318 – 425PHPROSITE-ProRule annotationAdd BLAST108

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>Regioni100 – 110Interaction with GPHNBy similarityAdd BLAST11

Keywords - Domaini

SH3 domain

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3519 Eukaryota
ENOG410XT9S LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000154103

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000237363

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
O43307

KEGG Orthology (KO)

More...
KOi
K20686

Database of Orthologous Groups

More...
OrthoDBi
428887at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
O43307

TreeFam database of animal gene trees

More...
TreeFami
TF316832

Family and domain databases

Conserved Domains Database

More...
CDDi
cd00160 RhoGEF, 1 hit
cd11975 SH3_ARHGEF9, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.20.900.10, 1 hit
2.30.29.30, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR035728 ARHGEF9_SH3
IPR035899 DBL_dom_sf
IPR000219 DH-domain
IPR011993 PH-like_dom_sf
IPR001849 PH_domain
IPR036028 SH3-like_dom_sf
IPR001452 SH3_domain

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00169 PH, 1 hit
PF00621 RhoGEF, 1 hit
PF00018 SH3_1, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00233 PH, 1 hit
SM00325 RhoGEF, 1 hit
SM00326 SH3, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF48065 SSF48065, 1 hit
SSF50044 SSF50044, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50010 DH_2, 1 hit
PS50003 PH_DOMAIN, 1 hit
PS50002 SH3, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. 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 (3+)i

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

This entry describes 3 <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 3 described isoforms and 21 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: O43307-1) [UniParc]FASTAAdd to basket
Also known as: CB3(SH3+)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MTLLITGDSI VSAEAVWDHV TMANRELAFK AGDVIKVLDA SNKDWWWGQI
60 70 80 90 100
DDEEGWFPAS FVRLWVNQED EVEEGPSDVQ NGHLDPNSDC LCLGRPLQNR
110 120 130 140 150
DQMRANVINE IMSTERHYIK HLKDICEGYL KQCRKRRDMF SDEQLKVIFG
160 170 180 190 200
NIEDIYRFQM GFVRDLEKQY NNDDPHLSEI GPCFLEHQDG FWIYSEYCNN
210 220 230 240 250
HLDACMELSK LMKDSRYQHF FEACRLLQQM IDIAIDGFLL TPVQKICKYP
260 270 280 290 300
LQLAELLKYT AQDHSDYRYV AAALAVMRNV TQQINERKRR LENIDKIAQW
310 320 330 340 350
QASVLDWEGE DILDRSSELI YTGEMAWIYQ PYGRNQQRVF FLFDHQMVLC
360 370 380 390 400
KKDLIRRDIL YYKGRIDMDK YEVVDIEDGR DDDFNVSMKN AFKLHNKETE
410 420 430 440 450
EIHLFFAKKL EEKIRWLRAF REERKMVQED EKIGFEISEN QKRQAAMTVR
460 470 480 490 500
KVPKQKGVNS ARSVPPSYPP PQDPLNHGQY LVPDGIAQSQ VFEFTEPKRS
510
QSPFWQNFSR LTPFKK
Length:516
Mass (Da):60,982
Last modified:October 17, 2006 - v3
<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:iAAEE17366B46B707
GO
Isoform 2 (identifier: O43307-2) [UniParc]FASTAAdd to basket
Also known as: CB3(SH3-)

The sequence of this isoform differs from the canonical sequence as follows:
     1-10: MTLLITGDSI → MQWIRGGSGM
     11-63: Missing.

Show »
Length:463
Mass (Da):54,965
Checksum:i046F5EC27274EC71
GO
Isoform 3 (identifier: O43307-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-102: Missing.

Show »
Length:414
Mass (Da):49,458
Checksum:i65A0F069D8E0A009
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 21 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A1B0GWI5A0A1B0GWI5_HUMAN
Rho guanine nucleotide exchange fac...
ARHGEF9
529Annotation 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>
B1AMR3B1AMR3_HUMAN
Rho guanine nucleotide exchange fac...
ARHGEF9
495Annotation 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>
A0A1B0GV84A0A1B0GV84_HUMAN
Rho guanine nucleotide exchange fac...
ARHGEF9
506Annotation 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>
A0A1B0GTC2A0A1B0GTC2_HUMAN
Rho guanine nucleotide exchange fac...
ARHGEF9
489Annotation 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>
A0A1B0GVC4A0A1B0GVC4_HUMAN
Rho guanine nucleotide exchange fac...
ARHGEF9
454Annotation 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>
A0A0A6YYF8A0A0A6YYF8_HUMAN
Rho guanine nucleotide exchange fac...
ARHGEF9
564Annotation 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>
A0A1B0GV82A0A1B0GV82_HUMAN
Rho guanine nucleotide exchange fac...
ARHGEF9
455Annotation 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>
B1AMR4B1AMR4_HUMAN
Cdc42 guanine nucleotide exchange f...
ARHGEF9 hCG_17692
487Annotation 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>
A0A096LPE7A0A096LPE7_HUMAN
Rho guanine nucleotide exchange fac...
ARHGEF9
134Annotation 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>
A0A0A6YYB3A0A0A6YYB3_HUMAN
Rho guanine nucleotide exchange fac...
ARHGEF9
483Annotation 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>
There are more potential isoformsShow all

<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 BAA24854 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.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 conflicti109N → D in BAF82682 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02875255G → A in EIEE8; affects dendritic gephrin clustering and trafficking of GABA-A receptors to synapses. 1 PublicationCorresponds to variant dbSNP:rs121918361EnsemblClinVar.1
Natural variantiVAR_072742290R → H in EIEE8. 2 Publications1
Natural variantiVAR_069370401E → K Probable disease-associated mutation found in a patient with moderate mental retardation, speech delay and sleep disturbances. 1 Publication1

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_0445551 – 102Missing in isoform 3. 1 PublicationAdd BLAST102
Alternative sequenceiVSP_0429201 – 10MTLLITGDSI → MQWIRGGSGM in isoform 2. 1 Publication10
Alternative sequenceiVSP_04292111 – 63Missing in isoform 2. 1 PublicationAdd BLAST53

Sequence databases

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EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AB007884 mRNA Translation: BAA24854.2 Different initiation.
AK289993 mRNA Translation: BAF82682.1
AK295033 mRNA Translation: BAG58088.1
AL451106 Genomic DNA No translation available.
AL391277 Genomic DNA No translation available.
AL355142 Genomic DNA No translation available.
BC056892 mRNA No translation available.
BC117406 mRNA Translation: AAI17407.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS35315.1 [O43307-1]
CCDS55429.1 [O43307-3]
CCDS55430.1 [O43307-2]

NCBI Reference Sequences

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RefSeqi
NP_001166950.1, NM_001173479.1 [O43307-2]
NP_001166951.1, NM_001173480.1 [O43307-3]
NP_056000.1, NM_015185.2 [O43307-1]
XP_016884855.1, XM_017029366.1 [O43307-1]
XP_016884862.1, XM_017029373.1 [O43307-3]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000253401; ENSP00000253401; ENSG00000131089 [O43307-1]
ENST00000623517; ENSP00000485369; ENSG00000131089 [O43307-2]
ENST00000624843; ENSP00000485626; ENSG00000131089 [O43307-3]

Database of genes from NCBI RefSeq genomes

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GeneIDi
23229

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:23229

UCSC genome browser

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UCSCi
uc004dvj.3 human [O43307-1]

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
AB007884 mRNA Translation: BAA24854.2 Different initiation.
AK289993 mRNA Translation: BAF82682.1
AK295033 mRNA Translation: BAG58088.1
AL451106 Genomic DNA No translation available.
AL391277 Genomic DNA No translation available.
AL355142 Genomic DNA No translation available.
BC056892 mRNA No translation available.
BC117406 mRNA Translation: AAI17407.1
CCDSiCCDS35315.1 [O43307-1]
CCDS55429.1 [O43307-3]
CCDS55430.1 [O43307-2]
RefSeqiNP_001166950.1, NM_001173479.1 [O43307-2]
NP_001166951.1, NM_001173480.1 [O43307-3]
NP_056000.1, NM_015185.2 [O43307-1]
XP_016884855.1, XM_017029366.1 [O43307-1]
XP_016884862.1, XM_017029373.1 [O43307-3]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2YSQNMR-A7-75[»]
SMRiO43307
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116834, 8 interactors
IntActiO43307, 8 interactors
STRINGi9606.ENSP00000253401

PTM databases

iPTMnetiO43307
PhosphoSitePlusiO43307

Polymorphism and mutation databases

BioMutaiARHGEF9

Proteomic databases

EPDiO43307
jPOSTiO43307
MaxQBiO43307
PaxDbiO43307
PeptideAtlasiO43307
PRIDEiO43307
ProteomicsDBi48882
48883 [O43307-2]

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
23229
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000253401; ENSP00000253401; ENSG00000131089 [O43307-1]
ENST00000623517; ENSP00000485369; ENSG00000131089 [O43307-2]
ENST00000624843; ENSP00000485626; ENSG00000131089 [O43307-3]
GeneIDi23229
KEGGihsa:23229
UCSCiuc004dvj.3 human [O43307-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
23229
DisGeNETi23229

GeneCards: human genes, protein and diseases

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GeneCardsi
ARHGEF9
GeneReviewsiARHGEF9
HGNCiHGNC:14561 ARHGEF9
HPAiHPA035419
HPA055291
MalaCardsiARHGEF9
MIMi300429 gene
300607 phenotype
neXtProtiNX_O43307
OpenTargetsiENSG00000131089
Orphaneti163985 Hyperekplexia-epilepsy syndrome
PharmGKBiPA24978

Human Unidentified Gene-Encoded large proteins database

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HUGEi
Search...

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3519 Eukaryota
ENOG410XT9S LUCA
GeneTreeiENSGT00940000154103
HOGENOMiHOG000237363
InParanoidiO43307
KOiK20686
OrthoDBi428887at2759
PhylomeDBiO43307
TreeFamiTF316832

Enzyme and pathway databases

ReactomeiR-HSA-193648 NRAGE signals death through JNK
R-HSA-194840 Rho GTPase cycle
R-HSA-416482 G alpha (12/13) signalling events
R-HSA-977443 GABA receptor activation

Miscellaneous databases

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

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ChiTaRSi
ARHGEF9 human
EvolutionaryTraceiO43307

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
ARHGEF9

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

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GenomeRNAii
23229

Protein Ontology

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PROi
PR:O43307

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000131089 Expressed in 215 organ(s), highest expression level in caudate nucleus
ExpressionAtlasiO43307 baseline and differential
GenevisibleiO43307 HS

Family and domain databases

CDDicd00160 RhoGEF, 1 hit
cd11975 SH3_ARHGEF9, 1 hit
Gene3Di1.20.900.10, 1 hit
2.30.29.30, 1 hit
InterProiView protein in InterPro
IPR035728 ARHGEF9_SH3
IPR035899 DBL_dom_sf
IPR000219 DH-domain
IPR011993 PH-like_dom_sf
IPR001849 PH_domain
IPR036028 SH3-like_dom_sf
IPR001452 SH3_domain
PfamiView protein in Pfam
PF00169 PH, 1 hit
PF00621 RhoGEF, 1 hit
PF00018 SH3_1, 1 hit
SMARTiView protein in SMART
SM00233 PH, 1 hit
SM00325 RhoGEF, 1 hit
SM00326 SH3, 1 hit
SUPFAMiSSF48065 SSF48065, 1 hit
SSF50044 SSF50044, 1 hit
PROSITEiView protein in PROSITE
PS50010 DH_2, 1 hit
PS50003 PH_DOMAIN, 1 hit
PS50002 SH3, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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 nameiARHG9_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: O43307
Secondary accession number(s): A8K1S8
, B4DHC7, F8W7P8, Q5JSL6
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 17, 2006
Last sequence update: October 17, 2006
Last modified: May 8, 2019
This is version 156 of the entry and version 3 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, Complete proteome, Reference proteome

Documents

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