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UniProtKB - Q92888 (ARHG1_HUMAN)

Entry version 189 (22 Apr 2020)
Sequence version 2 (29 Aug 2003)
Previous versions | rss
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Protein

Rho guanine nucleotide exchange factor 1

Gene

ARHGEF1

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

Seems to play a role in the regulation of RhoA GTPase by guanine nucleotide-binding alpha-12 (GNA12) and alpha-13 (GNA13) subunits (PubMed:9641915, PubMed:9641916). Acts as GTPase-activating protein (GAP) for GNA12 and GNA13, and as guanine nucleotide exchange factor (GEF) for RhoA GTPase (PubMed:9641915, PubMed:9641916, PubMed:8810315, PubMed:30521495). Activated G alpha 13/GNA13 stimulates the RhoGEF activity through interaction with the RGS-like domain (PubMed:9641916). This GEF activity is inhibited by binding to activated GNA12 (PubMed:9641916). Mediates angiotensin-2-induced RhoA activation (PubMed:20098430).5 Publications

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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

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

Molecular functionGTPase activation, Guanine-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

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q92888

<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:
Rho guanine nucleotide exchange factor 1
Alternative name(s):
115 kDa guanine nucleotide exchange factor
Short name:
p115-RhoGEF
Short name:
p115RhoGEF
Sub1.5
<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:ARHGEF1
<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 19

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:681 ARHGEF1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		601855 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q92888

<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

Cytoplasm, Membrane

<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

Immunodeficiency 62 (IMD62)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive, primary immunologic disorder characterized by recurrent severe respiratory tract infections and bronchiectasis, due to antibody deficiency. Affected individuals have an abnormal B cell immunophenotype, with low levels of circulating memory B cells.
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_082652285 – 912Missing in IMD62; impairs RhoA GTPase activation and GNA12- and GNA13-mediated signaling; reduces actin polymerization. 1 PublicationCorresponds to variant dbSNP:rs1568815169Add BLAST628

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>Mutagenesisi487Y → F: No effect. 1 Publication1
Mutagenesisi738Y → F: Lowers the exchange activity. 1 Publication1

Organism-specific databases

DisGeNET

More...DisGeNETi		9138

MalaCards human disease database

More...MalaCardsi		ARHGEF1
MIMi618459 phenotype

Open Targets

More...OpenTargetsi		ENSG00000076928

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA24966

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q92888 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		ARHGEF1

Domain mapping of disease mutations (DMDM)

More...DMDMi		34395524

<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_00000809061 – 912Rho guanine nucleotide exchange factor 1Add BLAST912

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 residuei374PhosphoserineCombined sources1
Modified residuei409PhosphoserineCombined sources1
Modified residuei695PhosphothreonineCombined sources1
Modified residuei738Phosphotyrosine; by JAK21 Publication1
Modified residuei863PhosphoserineCombined sources1

<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 by PKCA. Angiotensin-2 induced Tyr-738 phosphorylation is mediated by JAK2.2 Publications

Keywords - PTMi

Phosphoprotein

Proteomic databases

The CPTAC Assay portal

More...CPTACi		CPTAC-1231

Encyclopedia of Proteome Dynamics

More...EPDi		Q92888

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q92888

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q92888

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q92888

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

More...PaxDbi		Q92888

PeptideAtlas

More...PeptideAtlasi		Q92888

PRoteomics IDEntifications database

More...PRIDEi		Q92888

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		66748
75572 [Q92888-1]
75573 [Q92888-2]
75574 [Q92888-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q92888

MetOSite database of methionine sulfoxide sites

More...MetOSitei		Q92888

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

More...PhosphoSitePlusi		Q92888

<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

Ubiquitously expressed.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000076928 Expressed in small intestine Peyer's patch and 213 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q92888 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q92888 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000076928 Tissue enhanced (lymphoid)

<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 RHOA, GNA12 and GNA13. Homooligomerizes through the coiled coil region. May interact with CCPG1 (By similarity).

Interacts with CTNNAL1.

By similarity3 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection%27">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

Show more details

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		114585, 34 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q92888

Protein interaction database and analysis system

More...IntActi		Q92888, 35 interactors

Molecular INTeraction database

More...MINTi		Q92888

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000337261

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q92888 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

1912
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		Q92888

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		Q92888

<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>Domaini41 – 232RGSLAdd BLAST192
Domaini416 – 605DHPROSITE-ProRule annotationAdd BLAST190
Domaini647 – 760PHPROSITE-ProRule annotationAdd BLAST114

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and domains' section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili865 – 896Sequence analysisAdd BLAST32

<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 RGSL domain, also known as rgRGS domain, is necessary but not sufficient for GAP activity.
The DH domain is involved in interaction with CCPG1.By similarity

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG3520 Eukaryota
COG5422 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000161180

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_003962_2_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q92888

KEGG Orthology (KO)

More...KOi		K12330

Database of Orthologous Groups

More...OrthoDBi		319635at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q92888

TreeFam database of animal gene trees

More...TreeFami		TF106495

Family and domain databases

Conserved Domains Database

More...CDDi		cd08755 RGS_p115RhoGEF, 1 hit
cd00160 RhoGEF, 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
IPR035899 DBL_dom_sf
IPR000219 DH-domain
IPR037887 p115RhoGEF_RGS
IPR011993 PH-like_dom_sf
IPR041020 PH_16
IPR001849 PH_domain
IPR015212 RGS-like_dom
IPR036305 RGS_sf

Pfam protein domain database

More...Pfami		View protein in Pfam
PF17838 PH_16, 1 hit
PF09128 RGS-like, 1 hit
PF00621 RhoGEF, 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

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF48065 SSF48065, 1 hit
SSF48097 SSF48097, 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

<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 (4+)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 4 <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 4 described isoforms and 8 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q92888-1) [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
MEDFARGAAS PGPSRPGLVP VSIIGAEDED FENELETNSE EQNSQFQSLE 
        60         70         80         90        100
QVKRRPAHLM ALLQHVALQF EPGPLLCCLH ADMLGSLGPK EAKKAFLDFY 
       110        120        130        140        150
HSFLEKTAVL RVPVPPNVAF ELDRTRADLI SEDVQRRFVQ EVVQSQQVAV 
       160        170        180        190        200
GRQLEDFRSK RLMGMTPWEQ ELAQLEAWVG RDRASYEARE RHVAERLLMH 
       210        220        230        240        250
LEEMQHTIST DEEKSAAVVN AIGLYMRHLG VRTKSGDKKS GRNFFRKKVM 
       260        270        280        290        300
GNRRSDEPAK TKKGLSSILD AARWNRGEPQ VPDFRHLKAE VDAEKPGATD 
       310        320        330        340        350
RKGGVGMPSR DRNIGAPGQD TPGVSLHPLS LDSPDREPGA DAPLELGDSS 
       360        370        380        390        400
PQGPMSLESL APPESTDEGA ETESPEPGDE GEPGRSGLEL EPEEPPGWRE 
       410        420        430        440        450
LVPPDTLHSL PKSQVKRQEV ISELLVTEAA HVRMLRVLHD LFFQPMAECL 
       460        470        480        490        500
FFPLEELQNI FPSLDELIEV HSLFLDRLMK RRQESGYLIE EIGDVLLARF 
       510        520        530        540        550
DGAEGSWFQK ISSRFCSRQS FALEQLKAKQ RKDPRFCAFV QEAESRPRCR 
       560        570        580        590        600
RLQLKDMIPT EMQRLTKYPL LLQSIGQNTE EPTEREKVEL AAECCREILH 
       610        620        630        640        650
HVNQAVRDME DLLRLKDYQR RLDLSHLRQS SDPMLSEFKN LDITKKKLVH 
       660        670        680        690        700
EGPLTWRVTK DKAVEVHVLL LDDLLLLLQR QDERLLLKSH SRTLTPTPDG 
       710        720        730        740        750
KTMLRPVLRL TSAMTREVAT DHKAFYVLFT WDQEAQIYEL VAQTVSERKN 
       760        770        780        790        800
WCALITETAG SLKVPAPASR PKPRPSPSST REPLLSSSEN GNGGRETSPA 
       810        820        830        840        850
DARTERILSD LLPFCRPGPE GQLAATALRK VLSLKQLLFP AEEDNGAGPP 
       860        870        880        890        900
RDGDGVPGGG PLSPARTQEI QENLLSLEET MKQLEELEEE FCRLRPLLSQ 
       910 
LGGNSVPQPG CT
Length:912
Mass (Da):102,435
Last modified:August 29, 2003 - 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:i1E773D041652190D
GO
Isoform 2 (identifier: Q92888-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     76-108: Missing.

Show »
Length:879
Mass (Da):98,768
Checksum:i1D0863A5D1A57C9B
GO
Isoform 3 (identifier: Q92888-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MASLSTWSSPAEPREM

Show »
Length:927
Mass (Da):104,066
Checksum:iB2E593D5B2DCE417
GO
Isoform 4 (identifier: Q92888-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MASLSTWSSPAEPREM
     76-108: Missing.
     831-912: VLSLKQLLFP...GNSVPQPGCT → GVGGGILPPE...PKCLRSVFIP

Show »
Length:948
Mass (Da):105,854
Checksum:iD4F76D1F6EADD661
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 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
M0QZR4M0QZR4_HUMAN
Rho guanine nucleotide exchange fac...
ARHGEF1
968Annotation 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>
M0QYS3M0QYS3_HUMAN
Rho guanine nucleotide exchange fac...
ARHGEF1
307Annotation 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>
M0QYC1M0QYC1_HUMAN
Rho guanine nucleotide exchange fac...
ARHGEF1
702Annotation 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>
M0QZH8M0QZH8_HUMAN
Rho guanine nucleotide exchange fac...
ARHGEF1
275Annotation 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>
M0R2C7M0R2C7_HUMAN
Rho guanine nucleotide exchange fac...
ARHGEF1
291Annotation 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>
M0R1K8M0R1K8_HUMAN
Rho guanine nucleotide exchange fac...
ARHGEF1
128Annotation 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>
M0R3H5M0R3H5_HUMAN
Rho guanine nucleotide exchange fac...
ARHGEF1
88Annotation 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>
M0QXV6M0QXV6_HUMAN
Rho guanine nucleotide exchange fac...
ARHGEF1
68Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<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 CAA70356 differs from that shown. Contaminating sequence. Sequence of unknown origin in the N-terminal part.Curated
The sequence CAA70356 differs from that shown. Reason: Frameshift.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 conflicti257 – 259EPA → DPP in AAB17896 (PubMed:8810315).Curated3
Sequence conflicti305 – 308VGMP → GGDA in CAA70356 (PubMed:9135076).Curated4
Sequence conflicti339Missing in CAA70356 (PubMed:9135076).Curated1
Sequence conflicti346 – 352LGDSSPQ → PGGLIPA in CAA70356 (PubMed:9135076).Curated7
Sequence conflicti549C → S in CAA70356 (PubMed:9135076).Curated1
Sequence conflicti752C → S in CAA70356 (PubMed:9135076).Curated1
Sequence conflicti776S → R in AAB17896 (PubMed:8810315).Curated1
Sequence conflicti862L → R in CAA70356 (PubMed:9135076).Curated1
Sequence conflicti876S → R in CAA70356 (PubMed:9135076).Curated1
Sequence conflicti883Q → T in CAA70356 (PubMed:9135076).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_035969165M → V in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_082652285 – 912Missing in IMD62; impairs RhoA GTPase activation and GNA12- and GNA13-mediated signaling; reduces actin polymerization. 1 PublicationCorresponds to variant dbSNP:rs1568815169Add BLAST628
Natural variantiVAR_033521375P → L. Corresponds to variant dbSNP:rs2303797Ensembl.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_0377661M → MASLSTWSSPAEPREM in isoform 3 and isoform 4. 1 Publication1
Alternative sequenceiVSP_00812576 – 108Missing in isoform 2 and isoform 4. 1 PublicationAdd BLAST33
Alternative sequenceiVSP_057289831 – 912VLSLK…QPGCT → GVGGGILPPETPPVSAWGEL CPPAWLHLRFPPRKAFCKKE RNGGEDVRDHPHPHSCRSIS HPEGLRRGSCGPRLGGAQLG LLAPHEPRPSLPPALCLGDS GLHSGGHHGDPGHLSIACGG HPSTPTPKCLRSVFIP in isoform 4. 1 PublicationAdd BLAST82

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
U64105 mRNA Translation: AAB17896.1
AC010616 Genomic DNA No translation available.
AC243967 Genomic DNA No translation available.
CH471126 Genomic DNA Translation: EAW57084.1
BC005155 mRNA Translation: AAH05155.2
BC011726 mRNA Translation: AAH11726.1
BC015652 mRNA No translation available.
BC034013 mRNA Translation: AAH34013.2
BC067262 mRNA Translation: AAH67262.1
Y09160 mRNA Translation: CAA70356.1 Sequence problems.
BT007421 mRNA Translation: AAP36089.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS12590.1 [Q92888-3]
CCDS12591.1 [Q92888-1]
CCDS12592.1 [Q92888-2]

NCBI Reference Sequences

More...RefSeqi		NP_004697.2, NM_004706.3 [Q92888-1]
NP_945328.1, NM_198977.1 [Q92888-2]
NP_945353.1, NM_199002.1 [Q92888-3]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000337665; ENSP00000337261; ENSG00000076928 [Q92888-3]
ENST00000347545; ENSP00000344429; ENSG00000076928 [Q92888-2]
ENST00000354532; ENSP00000346532; ENSG00000076928 [Q92888-1]
ENST00000378152; ENSP00000367394; ENSG00000076928 [Q92888-4]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		9138

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:9138

UCSC genome browser

More...UCSCi		uc002orx.4 human [Q92888-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U64105 mRNA Translation: AAB17896.1
AC010616 Genomic DNA No translation available.
AC243967 Genomic DNA No translation available.
CH471126 Genomic DNA Translation: EAW57084.1
BC005155 mRNA Translation: AAH05155.2
BC011726 mRNA Translation: AAH11726.1
BC015652 mRNA No translation available.
BC034013 mRNA Translation: AAH34013.2
BC067262 mRNA Translation: AAH67262.1
Y09160 mRNA Translation: CAA70356.1 Sequence problems.
BT007421 mRNA Translation: AAP36089.1
CCDSiCCDS12590.1 [Q92888-3]
CCDS12591.1 [Q92888-1]
CCDS12592.1 [Q92888-2]
RefSeqiNP_004697.2, NM_004706.3 [Q92888-1]
NP_945328.1, NM_198977.1 [Q92888-2]
NP_945353.1, NM_199002.1 [Q92888-3]

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
1IAPX-ray1.90A42-252[»]
1SHZX-ray2.85C/F7-239[»]
3AB3X-ray2.40B/D1-233[»]
3ODOX-ray2.90A/B395-766[»]
3ODWX-ray3.20A/B240-766[»]
3ODXX-ray3.20A/B353-766[»]
3P6AX-ray2.50A/B395-766[»]
SMRiQ92888
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi114585, 34 interactors
CORUMiQ92888
IntActiQ92888, 35 interactors
MINTiQ92888
STRINGi9606.ENSP00000337261

PTM databases

iPTMnetiQ92888
MetOSiteiQ92888
PhosphoSitePlusiQ92888

Polymorphism and mutation databases

BioMutaiARHGEF1
DMDMi34395524

Proteomic databases

CPTACiCPTAC-1231
EPDiQ92888
jPOSTiQ92888
MassIVEiQ92888
MaxQBiQ92888
PaxDbiQ92888
PeptideAtlasiQ92888
PRIDEiQ92888
ProteomicsDBi66748
75572 [Q92888-1]
75573 [Q92888-2]
75574 [Q92888-3]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		2765 257 antibodies

The DNASU plasmid repository

More...DNASUi		9138

Genome annotation databases

EnsembliENST00000337665; ENSP00000337261; ENSG00000076928 [Q92888-3]
ENST00000347545; ENSP00000344429; ENSG00000076928 [Q92888-2]
ENST00000354532; ENSP00000346532; ENSG00000076928 [Q92888-1]
ENST00000378152; ENSP00000367394; ENSG00000076928 [Q92888-4]
GeneIDi9138
KEGGihsa:9138
UCSCiuc002orx.4 human [Q92888-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		9138
DisGeNETi9138

GeneCards: human genes, protein and diseases

More...GeneCardsi		ARHGEF1
HGNCiHGNC:681 ARHGEF1
HPAiENSG00000076928 Tissue enhanced (lymphoid)
MalaCardsiARHGEF1
MIMi601855 gene
618459 phenotype
neXtProtiNX_Q92888
OpenTargetsiENSG00000076928
PharmGKBiPA24966

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3520 Eukaryota
COG5422 LUCA
GeneTreeiENSGT00940000161180
HOGENOMiCLU_003962_2_0_1
InParanoidiQ92888
KOiK12330
OrthoDBi319635at2759
PhylomeDBiQ92888
TreeFamiTF106495

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
SIGNORiQ92888

Miscellaneous databases

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

More...ChiTaRSi		ARHGEF1 human
EvolutionaryTraceiQ92888

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		ARHGEF1

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

More...GenomeRNAii		9138
PharosiQ92888 Tbio

Protein Ontology

More...PROi		PR:Q92888
RNActiQ92888 protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000076928 Expressed in small intestine Peyer's patch and 213 other tissues
ExpressionAtlasiQ92888 baseline and differential
GenevisibleiQ92888 HS

Family and domain databases

CDDicd08755 RGS_p115RhoGEF, 1 hit
cd00160 RhoGEF, 1 hit
Gene3Di1.20.900.10, 1 hit
2.30.29.30, 1 hit
InterProiView protein in InterPro
IPR035899 DBL_dom_sf
IPR000219 DH-domain
IPR037887 p115RhoGEF_RGS
IPR011993 PH-like_dom_sf
IPR041020 PH_16
IPR001849 PH_domain
IPR015212 RGS-like_dom
IPR036305 RGS_sf
PfamiView protein in Pfam
PF17838 PH_16, 1 hit
PF09128 RGS-like, 1 hit
PF00621 RhoGEF, 1 hit
SMARTiView protein in SMART
SM00233 PH, 1 hit
SM00325 RhoGEF, 1 hit
SUPFAMiSSF48065 SSF48065, 1 hit
SSF48097 SSF48097, 1 hit
PROSITEiView protein in PROSITE
PS50010 DH_2, 1 hit
PS50003 PH_DOMAIN, 1 hit

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 nameiARHG1_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: Q92888
Secondary accession number(s): O00513
, Q6NX52, Q8N4J4, Q96BF4, Q96F17, Q9BSB1
<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: August 29, 2003
Last sequence update: August 29, 2003
Last modified: April 22, 2020
This is version 189 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 entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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